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
GPR113	165082	broad.mit.edu	37	2	26532440	26532440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:26532440C>T	uc010yky.1	-	12	2997	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	GPR113_uc002rhb.1_Missense_Mutation_p.E654K|GPR113_uc010eyk.1_Missense_Mutation_p.E852K|GPR113_uc002rhc.1_Missense_Mutation_p.E654K|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145169	NP_001138641	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 2, mRNA.	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCAGCCTTCATTTGTGGCC	0.507000														15			4		0	0	0.009096	0	0
OR52A1	23538	broad.mit.edu	37	11	5173472	5173472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5173472C>T	uc010qyy.2	-	0	128	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	43					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGAATTTCCAATCATAGC	0.468000														65			18		0	0	0.006122	0	0
CLVS1	157807	broad.mit.edu	37	8	62212642	62212642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:62212642C>T	uc003xuh.3	+	1	580	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	CLVS1_uc003xug.2_Missense_Mutation_p.H86Y|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	86					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAGGAAGTTTCACCAAGCGGA	0.468000														36			8		0	0	0.003080	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010837	173010837	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:173010837T>A	uc001giu.2	-	2	271	c.270A>T	c.(268-270)aaA>aaT	p.K90N		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	90					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						CCATTTGCCATTTTGAGGGTA	0.343000														127			27		0	0	0.009535	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	RNA	SNP	A	G	G	rs111976783		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:96593000A>G	uc010yug.1	-	26		c.1913T>C			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000														39			4		0	0	0.009096	0	0
KLHL13	90293	broad.mit.edu	37	X	117043590	117043590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:117043590C>T	uc011mtp.2	-	5	1182	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	KLHL13_uc004eqk.3_Missense_Mutation_p.G296E|KLHL13_uc004eql.3_Missense_Mutation_p.G347E|KLHL13_uc011mtn.2_Missense_Mutation_p.G187E|KLHL13_uc011mto.2_Missense_Mutation_p.G341E|KLHL13_uc011mtq.2_Missense_Mutation_p.G331E|KLHL13_uc004eqm.3_Missense_Mutation_p.G305E|KLHL13_uc022cde.1_Missense_Mutation_p.G331E	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	347					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G347V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTCAGCACTCCTCCTAGTGT	0.498000														43			11		0	0	0.010729	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216149	140216149	+	Silent	SNP	C	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140216149C>G	uc003lhq.2	+	0	2181	c.2181C>G	c.(2179-2181)tcC>tcG	p.S727S	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_Silent_p.S727S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	735					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCCGTCCTCTGAGGGCG	0.612000														45			12		0	0	0.013537	0	0
SEMA3D	223117	broad.mit.edu	37	7	84702398	84702398	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:84702398C>T	uc003uic.3	-	4	416	c.376_splice	c.e4-1	p.T126_splice	SEMA3D_uc010led.3_Splice_Site_p.T126_splice|SEMA3D_uc010lee.1_Splice_Site_p.T126_splice	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	126	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CACATTCTGTCTGTTGGGCAC	0.333000														29			8		0	0	0.004482	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392629	22392630	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22392629_22392630GT>AA	uc010aiz.2	+	1	227_228	c.152_153GT>AA	c.(151-153)agt>aAA	p.S51K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_Non-coding_Transcript					SubName: Full=HADV14S1; Flags: Fragment;																		AGTGATCAAAGTTATGGTCTAT	0.460000														73			15		0	0	0.004672	0	0
C11orf42	160298	broad.mit.edu	37	11	6231301	6231301	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:6231301G>A	uc001mcj.3	+	1	342	c.294G>A	c.(292-294)cgG>cgA	p.R98R		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	98								p.R98Q(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCACTCGGGAATACTCAC	0.607000														51			12		0	0	0.010729	0	0
LIPC	3990	broad.mit.edu	37	15	58855829	58855829	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:58855829C>G	uc010bga.2	+	9	1903	c.1295C>G	c.(1294-1296)aCg>aGg	p.T432R	LIPC_uc010bfz.1_Missense_Mutation_p.T432R|LIPC_uc002afa.2_Missense_Mutation_p.T432R|LIPC_uc010bgb.1_Missense_Mutation_p.T330R|LIPC_uc010ugy.2_Missense_Mutation_p.T371R	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	432	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GTCTGGGACACGGTCCAGACC	0.532000														27			5		0	0	0.000602	0	0
F2R	2149	broad.mit.edu	37	5	76028685	76028685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:76028685C>T	uc003ken.4	+	1	900	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	212					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CAGTCCCTCTCCTGGCGTACT	0.532000														144			31		0	0	0.012213	0	0
ZNF558	148156	broad.mit.edu	37	19	8922646	8922646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:8922646G>A	uc002mkn.1	-	5	750	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	ZNF558_uc010xkh.1_Missense_Mutation_p.H103Y|ZNF558_uc010dwg.1_Missense_Mutation_p.H174Y	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCTCCAGTATGAATTCTCTTG	0.393000														36			4		0	0	0.009096	0	0
POLR2A	5430	broad.mit.edu	37	17	7415630	7415630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:7415630C>T	uc002ghf.4	+	25	4845	c.4459C>T	c.(4459-4461)Ccc>Tcc	p.P1487S		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1487					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)				CATGGAGATCCCCACCAATAT	0.642000														45			10		0	0	0.013537	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971629	79971629	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:79971629A>T	uc010ysh.2	+	1	224	c.219A>T	c.(217-219)gaA>gaT	p.E73D	CTNNA2_uc010yse.2_Missense_Mutation_p.E73D|CTNNA2_uc010ysf.2_Missense_Mutation_p.E73D|CTNNA2_uc010ysg.2_Missense_Mutation_p.E73D	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	73					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATTTCCTGGAAAAGGGTGAAC	0.458000														26			11		0	0	0.008291	0	0
ZNF239	8187	broad.mit.edu	37	10	44053482	44053482	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:44053482G>A	uc001jaw.4	-	1	699	c.46C>T	c.(46-48)Cga>Tga	p.R16*	ZNF239_uc001jax.4_Nonsense_Mutation_p.R16*|ZNF239_uc009xmj.3_Nonsense_Mutation_p.R16*|ZNF239_uc009xmk.3_Nonsense_Mutation_p.R16*|ZNF239_uc021pph.1_Nonsense_Mutation_p.R16*	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTTCCCCTCGATGATTCACA	0.463000														38			7		0	0	0.001984	0	0
HSH2D	84941	broad.mit.edu	37	19	16268269	16268269	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:16268269G>A	uc002ndp.4	+	8	1254	c.723G>A	c.(721-723)gtG>gtA	p.V241V	HSH2D_uc002ndr.3_Missense_Mutation_p.D185N|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	241						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GATCCACGGTGATCTCAGGCC	0.597000														51			17		0	0	0.007413	0	0
HDAC8	55869	broad.mit.edu	37	X	71549926	71549926	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:71549926C>T	uc004eau.3	-	11	1454	c.1112_splice	c.e11-1	p.G371_splice	HDAC8_uc011mqe.2_Splice_Site_p.G228_splice|HDAC8_uc011mqg.2_Splice_Site_p.G280_splice|HDAC8_uc011mqf.2_Splice_Site	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	371					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTCAGATTCCCTGCAAACAG	0.393000														21			10		0	0	0.010729	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479098	32479098	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:32479098G>A	uc003amc.3	+	6	871	c.621G>A	c.(619-621)caG>caA	p.Q207Q	SLC5A1_uc011alz.2_Silent_p.Q80Q	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	207					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACACCTTGCAGACGGTGATCA	0.582000														38			10		0	0	0.013537	0	0
CCDC147	159686	broad.mit.edu	37	10	106163540	106163540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:106163540G>A	uc001kyh.3	+	13	2227	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	698										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACACGCTGCCGAGCCCTGGAG	0.488000														13			4		0	0	0.000602	0	0
ATP10B	23120	broad.mit.edu	37	5	160025933	160025933	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:160025933G>A	uc003lym.1	-	21	4255	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	ATP10B_uc010jit.1_Intron	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1136					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	p.F1136I(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGCTGGAGAAACCACAGA	0.498000														60			14		0	0	0.001855	0	0
SLIT2	9353	broad.mit.edu	37	4	20525515	20525515	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:20525515C>T	uc003gpr.1	+	12	1467	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	SLIT2_uc003gps.1_Silent_p.A421A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	421					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.A421T(1)|p.R420L(1)|p.R420W(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCTTCGGGCCATTCAAACTA	0.418000														93			9		0	0	0.006214	0	0
ADARB2	105	broad.mit.edu	37	10	1313167	1313167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:1313167C>T	uc009xhq.3	-	3	1501	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	392					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CATGACGATTCCTGCCAGCGC	0.532000														21			5		0	0	0.003080	0	0
F10	2159	broad.mit.edu	37	13	113795286	113795286	+	Missense_Mutation	SNP	G	A	A	rs61753266	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:113795286G>A	uc001vsx.3	+	4	481	c.424G>A	c.(424-426)Gag>Aag	p.E142K	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E142K	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	142	EGF-like 2.		E -> K (in FA10D; uncertain pathological significance; detected in patients carrying K-54 or P-374; slightly reduced activity).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCTGCCACGAGGAACAGAA	0.612000														69			14		0	0	0.003163	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380249	6380249	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:6380249G>A	uc003gja.3	-	2	243	c.219C>T	c.(217-219)ttC>ttT	p.F73F	PPP2R2C_uc003gjb.3_Silent_p.F56F|PPP2R2C_uc003gjc.3_Silent_p.F73F|PPP2R2C_uc011bwd.2_Silent_p.F66F|PPP2R2C_uc011bwe.2_Silent_p.F66F|PPP2R2C_uc003gjd.1_Silent_p.F161F	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	73					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CGTGGCTCTGGAAAGTGCTGT	0.577000														91			33		0	0	0.003271	0	0
HHATL	57467	broad.mit.edu	37	3	42735179	42735179	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:42735179T>G	uc003clw.3	-	10	1325	c.1178A>C	c.(1177-1179)aAc>aCc	p.N393T	HHATL_uc003clx.3_Missense_Mutation_p.N393T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	393					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCAAAGCAGTTAAGGAATGA	0.562000														23			9		0	0	0.008291	0	0
DSC3	1825	broad.mit.edu	37	18	28611119	28611119	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:28611119G>A	uc002kwj.4	-	2	329	c.174C>T	c.(172-174)ttC>ttT	p.F58F	DSC3_uc002kwi.4_Silent_p.F58F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	58					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGCAGACCTGAAGCACTCTT	0.358000														24			10		0	0	0.008291	0	0
DACH1	1602	broad.mit.edu	37	13	72255957	72255957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:72255957G>A	uc021rkj.1	-	1	1363	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	DACH1_uc021rkk.1_Missense_Mutation_p.L314F|DACH1_uc021rkl.1_Missense_Mutation_p.L314F	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	312	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGAGACATGAGACCAGGGACA	0.428000														61			16		0	0	0.007413	0	0
OR6B1	135946	broad.mit.edu	37	7	143701563	143701563	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:143701563G>A	uc003wdt.1	+	0	474	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A158A(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCCTGGCGAAGATCTACT	0.532000														25			7		0	0	0.001984	0	0
EDC4	23644	broad.mit.edu	37	16	67914531	67914531	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:67914531C>T	uc002eur.3	+	17	2408	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S	EDC4_uc010cer.3_Silent_p.S342S|EDC4_uc002eus.3_Silent_p.S453S|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	723					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCAAGCCTCCCCTAGCCGCA	0.617000														161			37		0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179440423	179440423	+	Missense_Mutation	SNP	C	T	T	rs140127488	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179440423C>T	uc021vsy.1	-	274	62957	c.62732G>A	c.(62731-62733)cGg>cAg	p.R20911Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14606Q|TTN_uc021vta.1_Missense_Mutation_p.R14539Q|TTN_uc021vtb.1_Missense_Mutation_p.R14414Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21838	Ig-like 112.						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)			ATAAGATTTCCGTGTTGCTTC	0.453000														73			20		0	0	0.007413	0	0
SCARB1	949	broad.mit.edu	37	12	125298774	125298774	+	Missense_Mutation	SNP	T	C	C	rs141478587		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:125298774T>C	uc001ugp.3	-	3	857	c.604A>G	c.(604-606)Aag>Gag	p.K202E	SCARB1_uc001ugm.4_Missense_Mutation_p.K202E|SCARB1_uc001ugn.4_Missense_Mutation_p.K202E|SCARB1_uc010tbd.2_Missense_Mutation_p.K202E|SCARB1_uc001ugo.4_Missense_Mutation_p.K202E	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	202					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AACTTGTCCTTGAAGGGGAAC	0.527000														89			15		0	0	0.004007	0	0
CDC20	991	broad.mit.edu	37	1	43825482	43825482	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:43825482T>C	uc001cix.3	+	3	518	c.417T>C	c.(415-417)aaT>aaC	p.N139N	CDC20_uc001ciy.3_Silent_p.N139N	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	139					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACCACAAAATGCGCCAGAGG	0.502000														113			21		0	0	0.008871	0	0
C10orf2	56652	broad.mit.edu	37	10	102748876	102748876	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:102748876G>A	uc001ksf.2	+	0	1584	c.909G>A	c.(907-909)cgG>cgA	p.R303R	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Silent_p.R303R|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	303			R -> Q (in PEOA3).|R -> W (in PEOA3; also detected in a case showing digenic inheritance).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGTTCCGGCGGATTGTATTCT	0.572000														143			33		0	0	0.013726	0	0
ST7L	54879	broad.mit.edu	37	1	113153605	113153605	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:113153605G>A	uc001ecd.3	-	2	614	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_5'UTR|ST7L_uc010owg.2_Silent_p.F103F|ST7L_uc010owh.2_Silent_p.F103F|ST7L_uc001ecf.3_Silent_p.F86F|ST7L_uc001ece.3_Silent_p.F103F|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.F38F|ST7L_uc001ech.3_Silent_p.F86F|ST7L_uc001eci.3_Silent_p.F103F|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.F86F	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	103					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGCTTATGGAAGTACCACC	0.393000														25			4		0	0	0.009096	0	0
GOLM1	51280	broad.mit.edu	37	9	88650316	88650316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:88650316C>T	uc004aol.3	-	7	1188	c.982G>A	c.(982-984)Gga>Aga	p.G328R	GOLM1_uc004aom.3_Missense_Mutation_p.G328R	NM_016548	NP_808800	Q8NBJ4	GOLM1_HUMAN	Homo sapiens golgi membrane protein 1 (GOLM1), transcript variant 1, mRNA.	328						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCCTCCTGTCCGTCGGGGATG	0.637000											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			19		0	0	0.010504	0	0
RNF4	6047	broad.mit.edu	37	4	2514858	2514858	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:2514858G>A	uc003gfb.3	+	7	771	c.423_splice	c.e7+1	p.E141_splice	RNF4_uc010icj.3_Splice_Site_p.R88_splice|RNF4_uc003gfc.3_Splice_Site_p.E141_splice	NM_002938	NP_002929	P78317	RNF4_HUMAN	Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNA.	141					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	PML body|cytoplasm	DNA binding|SUMO polymer binding|androgen receptor binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				GATACTCAGAGGTAAGTAAAC	0.468000														168			47		0	0	0.014410	0	0
ZNF831	128611	broad.mit.edu	37	20	57828097	57828097	+	Silent	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:57828097A>G	uc002yan.3	+	3	4092	c.4092A>G	c.(4090-4092)gaA>gaG	p.E1364E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1364						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGGGAAGGAAGAGAAGAAGG	0.478000														73			4		0	0	0.009096	0	0
RYR1	6261	broad.mit.edu	37	19	38985093	38985093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:38985093C>T	uc002oit.3	+	38	6506	c.6376C>T	c.(6376-6378)Cgg>Tgg	p.R2126W	RYR1_uc002oiu.3_Missense_Mutation_p.R2126W|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2126	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCCTGCACCGGCAGTACGA	0.672000														60			12		0	0	0.010729	0	0
RNPEP	6051	broad.mit.edu	37	1	201966479	201966479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:201966479C>T	uc001gxd.3	+	4	916	c.887C>T	c.(886-888)cCa>cTa	p.P296L	RNPEP_uc001gxe.3_5'UTR	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	296					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CCGTCCTTTCCATTTGGAGGA	0.587000														93			15		0	0	0.006122	0	0
GRM7	2917	broad.mit.edu	37	3	7340474	7340474	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:7340474C>T	uc003bqm.2	+	2	1114	c.840C>T	c.(838-840)tcC>tcT	p.S280S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.S280S|GRM7_uc003bql.2_Silent_p.S280S|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	280					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCCCCAACTCCAGGGCCGTCG	0.438000														34			12		0	0	0.013537	0	0
TBPL2	387332	broad.mit.edu	37	14	55902631	55902631	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:55902631G>A	uc001xby.3	-	2	630	c.630C>T	c.(628-630)aaC>aaT	p.N210N		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	210					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TACAGGCCAGGTTTACAGTGG	0.299000														44			6		0	0	0.003080	0	0
GPR31	2853	broad.mit.edu	37	6	167571113	167571113	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:167571113G>A	uc011egq.2	-	0	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	69						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGCGGCCAGGAAAGGCAGGC	0.657000														30			4		0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61840357	61840357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61840357C>T	uc001jky.3	-	35	4708	c.4370G>A	c.(4369-4371)cGa>cAa	p.R1457Q	ANK3_uc001jkw.3_Missense_Mutation_p.R582Q|ANK3_uc009xpa.3_Missense_Mutation_p.R582Q|ANK3_uc001jkx.3_Missense_Mutation_p.R626Q|ANK3_uc010qih.2_Missense_Mutation_p.R1449Q|ANK3_uc001jkz.4_Missense_Mutation_p.R1442Q|ANK3_uc001jla.1_Missense_Mutation_p.R514Q|ANK3_uc001jkv.3_5'UTR|ANK3_uc009xpb.1_Non-coding_Transcript|ANK3_uc009xpc.1_Non-coding_Transcript|Y_RNA_uc021prg.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1457					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						GAAGCTCTGTCGTCTATCTGT	0.388000														29			6		0	0	0.001168	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290867	20290867	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:20290867C>T	uc001iqg.1	+	1	913	c.276C>T	c.(274-276)ttC>ttT	p.F92F	PLXDC2_uc001iqh.1_Silent_p.F92F	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCAGAAGCTTCACAGACCTGC	0.468000														25			4		0	0	0.009096	0	0
AGPAT4	56895	broad.mit.edu	37	6	161560492	161560492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:161560492G>A	uc003qtr.1	-	7	1231	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	AGPAT4_uc003qts.1_Missense_Mutation_p.S195F|AGPAT4_uc011egb.1_Missense_Mutation_p.S173F	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	335					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGCGTCAGGGAAGACCCGCT	0.627000														112			10		0	0	0.010729	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726650	25726650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:25726650G>A	uc003nfc.3	-	0	141	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	36					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTCCCTTACGAAGCAGACGA	0.552000														48			5		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	19	36227864	36227864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:36227864G>A	uc021usv.1	+	31	7349	c.7349G>A	c.(7348-7350)cGa>cAa	p.R2450Q	MLL2_uc021usu.1_Missense_Mutation_p.R1264Q	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5279	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGCATGCCCGACTCAGACAT	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				16			6		0	0	0.001984	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926716	130926716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:130926716G>A	uc001uil.2	-	7	1346	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	RIMBP2_uc001uim.3_Missense_Mutation_p.S285L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	377	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGCTCATCCGAGCTGCCCCT	0.642000														40			13		0	0	0.013537	0	0
SERPINA3	12	broad.mit.edu	37	14	95088707	95088707	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:95088707T>A	uc001ydp.3	+	3	1106	c.947T>A	c.(946-948)tTt>tAt	p.F316Y	SERPINA3_uc001ydo.4_Missense_Mutation_p.F341Y|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.F316Y|SERPINA3_uc001yds.3_Missense_Mutation_p.F316Y	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	316					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGCCAAAGTTTTCCATCTCG	0.507000														47			20		0	0	0.003330	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595300	140595300	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140595300C>T	uc003lja.1	+	0	1792	c.1605C>T	c.(1603-1605)gaC>gaT	p.D535D		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	535	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.D535E(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTTCAGACCACGGCTCCC	0.677000														52			15		0	0	0.003163	0	0
MMP16	4325	broad.mit.edu	37	8	89053914	89053914	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:89053914A>C	uc003yeb.4	-	9	1881	c.1599T>G	c.(1597-1599)gaT>gaG	p.D533E		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	533					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTGTTGGTCCATCACAGCCCA	0.428000														67			20		0	0	0.007413	0	0
POSTN	10631	broad.mit.edu	37	13	38153461	38153461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:38153461G>A	uc001uwo.4	-	12	1814	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y	POSTN_uc010tet.2_Missense_Mutation_p.H94Y|POSTN_uc001uwp.4_Missense_Mutation_p.H566Y|POSTN_uc001uwr.3_Missense_Mutation_p.H566Y|POSTN_uc001uwq.3_Missense_Mutation_p.H566Y|POSTN_uc010teu.1_Missense_Mutation_p.H566Y|POSTN_uc010tev.1_Missense_Mutation_p.H566Y|POSTN_uc010tew.1_Missense_Mutation_p.H566Y|POSTN_uc010tex.1_Missense_Mutation_p.H481Y	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	566	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGTGTCAGGTGATAAAGAATG	0.318000														59			7		0	0	0.006214	0	0
GKN1	56287	broad.mit.edu	37	2	69204770	69204770	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:69204770A>G	uc002sfc.3	+	3	172	c.109_splice	c.e3-1	p.N37_splice		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	37					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AAACTTCAGAATATCAACGTC	0.373000														38			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179490104C>T	uc021vsy.1	-	189	36965	c.36740G>A	c.(36739-36741)gGa>gAa	p.G12247E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5942E|TTN_uc021vta.1_Missense_Mutation_p.G5875E|TTN_uc021vtb.1_Missense_Mutation_p.G5750E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13174	Ig-like 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAACTTTTCCTTCTGAACG	0.353000														133			26		0	0	0.007291	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029410	41029410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:41029410G>A	uc003opl.3	+	1	622	c.475G>A	c.(475-477)Gag>Aag	p.E159K	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	159					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATGTGGGAGGAGCCGGAGAT	0.537000														82			19		0	0	0.008871	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190579	72190579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:72190579C>T	uc001xms.3	+	15	4848	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1496F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S950F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1496					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1496F(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCATAAACTCCGTGGGATTT	0.478000														76			21		0	0	0.010504	0	0
KIF1B	23095	broad.mit.edu	37	1	10342482	10342482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:10342482C>T	uc001aqx.4	+	14	1527	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	KIF1B_uc001aqv.4_Missense_Mutation_p.S396F|KIF1B_uc001aqw.4_Missense_Mutation_p.S396F|KIF1B_uc001aqy.3_Missense_Mutation_p.S416F|KIF1B_uc001aqz.3_Missense_Mutation_p.S442F|KIF1B_uc001ara.3_Missense_Mutation_p.S402F|KIF1B_uc001arb.3_Missense_Mutation_p.S428F	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	442					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTCACTTCATCCCCATCTTCC	0.478000														55			11		0	0	0.010729	0	0
OR4C13	283092	broad.mit.edu	37	11	49974850	49974850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:49974850G>A	uc010rhz.2	+	0	908	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCTCAAATGAAAAATGCCA	0.383000														35			5		0	0	0.001168	0	0
SALL1	6299	broad.mit.edu	37	16	51174572	51174572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:51174572G>A	uc021tif.1	-	1	1592	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S	SALL1_uc021tid.1_Missense_Mutation_p.P424S|SALL1_uc021tie.1_Missense_Mutation_p.P521S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	521					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTACTCGTGGGGATATTGTCC	0.517000														63			7		0	0	0.004482	0	0
MYOCD	93649	broad.mit.edu	37	17	12626207	12626207	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:12626207G>A	uc002gno.2	+	4	596	c.297G>A	c.(295-297)ctG>ctA	p.L99L	MYOCD_uc002gnn.2_Silent_p.L99L|MYOCD_uc002gnp.1_Silent_p.L3L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	99					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGATGAAGCTGAAAAGAGCCC	0.458000														119			31		0	0	0.008361	0	0
OR6C65	403282	broad.mit.edu	37	12	55794670	55794670	+	Missense_Mutation	SNP	C	T	T	rs146463326		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:55794670C>T	uc010spl.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTCTTATGATCGCTATGTGGC	0.383000														89			24		0	0	0.005443	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507419	74507419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:74507419C>T	uc001dfy.4	-	6	1388	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	399								p.R399R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCGCTCCAATCGTATGTCTTT	0.343000														53			17		0	0	0.004990	0	0
MTHFR	4524	broad.mit.edu	37	1	11854540	11854540	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:11854540G>A	uc001atb.1	-	6	1489	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	MTHFR_uc001atc.2_Silent_p.L408L	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	408					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TTGCTCTTCAGGTAGAAGAGG	0.567000														80			20		0	0	0.012319	0	0
IL37	27178	broad.mit.edu	37	2	113674773	113674773	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:113674773C>T	uc002tij.3	+	2	255	c.213C>T	c.(211-213)gtC>gtT	p.V71V	IL37_uc002tim.3_Intron|IL37_uc002tik.3_Silent_p.V50V|IL37_uc002til.3_Intron|IL37_uc002tin.3_Silent_p.V45V	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	71					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAGTACTGGTCCTGGACTCTG	0.448000														48			22		0	0	0.012319	0	0
BPIFC	254240	broad.mit.edu	37	22	32853335	32853335	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:32853335G>A	uc003amn.2	-	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR|BPIFC_uc003amo.4_Silent_p.F13F	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	13						extracellular region	lipopolysaccharide binding|phospholipid binding										TCCACAGGAGGAAACATCCCC	0.408000											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		46			13		0	0	0.002450	0	0
NOVA1	4857	broad.mit.edu	37	14	26917661	26917661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:26917661C>T	uc001wqa.3	-	5	1448	c.662G>A	c.(661-663)gGg>gAg	p.G221E	NOVA1_uc001wpy.3_Missense_Mutation_p.G343E|NOVA1_uc001wpz.3_Missense_Mutation_p.G319E	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	346	KH 2.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.V221A(1)|p.V220A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		agccaaagcccctgttgctgc	0.522000														15			5		0	0	0.000602	0	0
USP54	159195	broad.mit.edu	37	10	75289647	75289647	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:75289647T>C	uc001juo.3	-	12	1868	c.1851A>G	c.(1849-1851)gaA>gaG	p.E617E	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.E617E|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Silent_p.E617E	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	617					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCTTGCTTGGTTCATCTGGTA	0.463000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			11		0	0	0.008291	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54730003	54730003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:54730003G>A	uc003xrl.3	-	4	546	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	ATP6V1H_uc003xrk.3_Missense_Mutation_p.R92C|ATP6V1H_uc003xrm.3_Missense_Mutation_p.R132C|ATP6V1H_uc003xrn.3_Missense_Mutation_p.R132C|ATP6V1H_uc011ldv.2_Missense_Mutation_p.R52C|ATP6V1H_uc010lyd.3_Missense_Mutation_p.R68C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	132					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GGATCCTGGCGATTCAACATT	0.368000														35			7		0	0	0.001984	0	0
SCARA3	51435	broad.mit.edu	37	8	27516292	27516292	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:27516292T>G	uc003xga.1	+	4	746	c.605T>G	c.(604-606)cTg>cGg	p.L202R	SCARA3_uc003xgb.1_Missense_Mutation_p.L202R	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	202					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACAGCTGGCCTGGACCTCTCT	0.602000														21			6		0	0	0.001168	0	0
GJA4	2701	broad.mit.edu	37	1	35260119	35260119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:35260119G>A	uc009vul.3	+	1	557	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	GJA4_uc001bya.3_Missense_Mutation_p.R102Q|GJA4_uc009vum.1_Missense_Mutation_p.R102Q|GJA4_uc021olb.1_Missense_Mutation_p.R102Q	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	102					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGTCTCGGCGAGAAGAGCGG	0.662000														36			6		0	0	0.001984	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187597	37187597	+	RNA	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:37187597C>T	uc002hrd.1	+	0		c.1439C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TCAGGAGACCCCAACTTAGCC	0.507000														55			13		0	0	0.013537	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133527	119133527	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:119133527C>T	uc003ecj.4	+	11	3283	c.2751C>T	c.(2749-2751)ccC>ccT	p.P917P		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	917					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGACGAGTCCCCTTCACTCTC	0.607000														85			22		0	0	0.002780	0	0
EIF4G3	8672	broad.mit.edu	37	1	21205977	21205977	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:21205977A>C	uc001bec.3	-	14	2549	c.2293T>G	c.(2293-2295)Ttg>Gtg	p.L765V	EIF4G3_uc010odi.2_Missense_Mutation_p.L369V|EIF4G3_uc010odj.2_Missense_Mutation_p.L764V|EIF4G3_uc009vpz.3_Missense_Mutation_p.L485V|EIF4G3_uc001bef.3_Missense_Mutation_p.L801V|EIF4G3_uc001bee.3_Missense_Mutation_p.L771V	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	765	MIF4G.|eIF3/EIF4A-binding (By similarity).				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGTGGTGTCAATTTATTTAAG	0.383000														171			42		0	0	0.008740	0	0
SEMA7A	8482	broad.mit.edu	37	15	74708937	74708937	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:74708937G>A	uc002axv.3	-	6	820	c.780C>T	c.(778-780)tcC>tcT	p.S260S	SEMA7A_uc010ulk.2_Silent_p.S95S|SEMA7A_uc010ull.2_Silent_p.S246S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	260	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGGCCACACGGGACACATTGA	0.557000														46			9		0	0	0.004482	0	0
ARSI	340075	broad.mit.edu	37	5	149677766	149677766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:149677766G>A	uc003lrv.2	-	1	1310	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	241						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTGCAGGGGTGTGTGTACT	0.622000														51			9		0	0	0.008291	0	0
PTPRF	5792	broad.mit.edu	37	1	44087635	44087635	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:44087635C>T	uc001cjr.3	+	33	6025	c.5685C>T	c.(5683-5685)gcC>gcT	p.A1895A	PTPRF_uc001cjs.3_Silent_p.A1886A|PTPRF_uc001cju.3_Silent_p.A1284A|PTPRF_uc009vwt.3_Silent_p.A1455A|PTPRF_uc001cjv.3_Silent_p.A1366A|PTPRF_uc001cjw.3_Silent_p.A1121A	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1895	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.H1894N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGTGCGGCCCTGGAGTACC	0.652000														59			16		0	0	0.003163	0	0
MEIS2	4212	broad.mit.edu	37	15	37390313	37390313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:37390313G>A	uc001zjr.3	-	1	1174	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	MEIS2_uc001zjl.3_Missense_Mutation_p.P21S|MEIS2_uc010ucj.2_Missense_Mutation_p.P21S|MEIS2_uc001zjm.3_5'UTR|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Missense_Mutation_p.P34S|MEIS2_uc001zjp.3_Missense_Mutation_p.P34S|MEIS2_uc001zjs.3_Missense_Mutation_p.P34S|MEIS2_uc001zju.3_Missense_Mutation_p.P21S|MEIS2_uc001zjt.3_Missense_Mutation_p.P34S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	34					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGAACCGGGGGGATCGGCCGC	0.677000														51			9		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9010677	9010677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9010677C>T	uc002mkp.3	-	37	39188	c.38984G>A	c.(38983-38985)gGg>gAg	p.G12995E	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12997					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						GGATGGAGTCCCTGAGGTCCC	0.522000														38			8		0	0	0.004482	0	0
ZNF165	7718	broad.mit.edu	37	6	28056379	28056379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:28056379G>A	uc021yro.1	+	3	1416	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	ZNF165_uc003nkh.3_Missense_Mutation_p.E197K|ZNF165_uc003nki.4_Missense_Mutation_p.E197K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	197					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCAAAGCTGGAAATTTTTGA	0.333000														72			11		0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9060313	9060313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9060313C>T	uc002mkp.3	-	2	27337	c.27133G>A	c.(27133-27135)Gga>Aga	p.G9045R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9047	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						GGGCTAGGTCCTCTGCTAGAG	0.498000														59			6		0	0	0.001168	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535171	190535171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:190535171C>T	uc002uqt.3	+	5	2085	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	551	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTTAGATTTCCTTTCCTGGA	0.299000														44			7		0	0	0.004482	0	0
GABBR2	9568	broad.mit.edu	37	9	101125068	101125068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:101125068C>T	uc004ays.3	-	12	2282	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	608					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATACACAGGTCGATCAGCAGC	0.587000														38			8		0	0	0.003080	0	0
MAML2	84441	broad.mit.edu	37	11	95712580	95712580	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:95712580T>C	uc001pfw.1	-	4	4288	c.3003A>G	c.(3001-3003)caA>caG	p.Q1001Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	1001					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTACTGCCTGTTGCAGTGACT	0.522000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									21			5		0	0	0.001168	0	0
BLK	640	broad.mit.edu	37	8	11407735	11407735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:11407735G>A	uc003wty.3	+	5	1017	c.436G>A	c.(436-438)Ggc>Agc	p.G146S		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	146	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAACAAGGCCGGCTCCTTTCT	0.557000														76			23		0	0	0.006320	0	0
SAMD9	54809	broad.mit.edu	37	7	92731372	92731372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:92731372G>A	uc003umf.3	-	2	4309	c.4039C>T	c.(4039-4041)Ctc>Ttc	p.L1347F	SAMD9_uc003umg.3_Missense_Mutation_p.L1347F|SAMD9_uc022ahg.1_Missense_Mutation_p.L1347F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1347						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCCAAGAGCCCAGAAAAC	0.368000														108			19		0	0	0.006122	0	0
FLT1	2321	broad.mit.edu	37	13	28893576	28893576	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:28893576C>T	uc001usb.3	-	23	3555	c.3270G>A	c.(3268-3270)tgG>tgA	p.W1090*	FLT1_uc010aap.2_Nonsense_Mutation_p.W95*|FLT1_uc010aaq.2_Nonsense_Mutation_p.W215*|FLT1_uc001usa.3_Nonsense_Mutation_p.W308*	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1090	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.L1089L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGAAGATTTCCCACAGCAATA	0.433000														19			3		0	0	0.009096	0	0
IGF2R	3482	broad.mit.edu	37	6	160525776	160525776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:160525776C>T	uc003qta.3	+	47	7284	c.7136C>T	c.(7135-7137)cCa>cTa	p.P2379L		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2379					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)		CTGCCTCCTCCACGGCAGGGA	0.542000														43			14		0	0	0.002450	0	0
KRT10	3858	broad.mit.edu	37	17	38975971	38975971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:38975971C>T	uc002hvi.3	-	5	1197	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	391	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GCCAAGGAGGCTTCCAGGGAT	0.443000														48			6		0	0	0.003080	0	0
RAI1	10743	broad.mit.edu	37	17	17698654	17698654	+	Missense_Mutation	SNP	C	T	T	rs148947371		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:17698654C>T	uc002grm.3	+	2	2861	c.2392C>T	c.(2392-2394)Ccc>Tcc	p.P798S	RAI1_uc002grn.1_Missense_Mutation_p.P798S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	798						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)		GGAGGAGGACCCCCCTGGGGA	0.667000														23			8		0	0	0.003080	0	0
ABCA12	26154	broad.mit.edu	37	2	215845306	215845306	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:215845306G>A	uc002vew.3	-	30	4861	c.4641C>T	c.(4639-4641)atC>atT	p.I1547I	ABCA12_uc002vev.3_Silent_p.I1229I|ABCA12_uc010zjn.2_Silent_p.I474I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1547	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.R1546H(1)		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)		CCAGGAAGGCGATGCGGTCAC	0.517000														87			12		0	0	0.010729	0	0
FAM83C	128876	broad.mit.edu	37	20	33875020	33875020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:33875020C>T	uc021wck.1	-	3	1680	c.1562G>A	c.(1561-1563)gGa>gAa	p.G521E	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.G176E	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	521								p.V520V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTCAGGGTCTCCCACTTCTCG	0.642000														60			18		0	0	0.008871	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3805956	3805956	+	Silent	SNP	G	A	A	rs139345952	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:3805956G>A	uc010sen.1	-	3	782	c.210C>T	c.(208-210)atC>atT	p.I70I	EFCAB4B_uc001qmj.2_Silent_p.I70I	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	70	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTTCCTGGCGATGAAGCCCT	0.567000														47			6		0	0	0.003080	0	0
FAM131A	131408	broad.mit.edu	37	3	184062652	184062653	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:184062652_184062653GC>TT	uc003foe.3	+	5	1138_1139	c.995_996GC>TT	c.(994-996)tgc>tTT	p.C332F	FAM131A_uc003foc.3_Missense_Mutation_p.C247F|FAM131A_uc003fog.3_Missense_Mutation_p.C301F	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	301						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGCCACTCTGCCCACCACTAA	0.644000														32			10		0	0	0.004672	0	0
KPNA1	3836	broad.mit.edu	37	3	122156098	122156098	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:122156098C>T	uc003efe.2	-	10	1229	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	KPNA1_uc003efb.1_Silent_p.L146L|KPNA1_uc003efc.1_Silent_p.L146L|KPNA1_uc011bjr.1_Silent_p.L146L|KPNA1_uc010hrh.2_Silent_p.L146L	NM_002264	NP_002255	P52294	IMA1_HUMAN	Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.	347	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTGGGCTACTCAGCAAATGCA	0.343000														56			13		0	0	0.001855	0	0
COL6A3	1293	broad.mit.edu	37	2	238244917	238244917	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:238244917C>T	uc002vwl.2	-	39	9111	c.8826G>A	c.(8824-8826)gcG>gcA	p.A2942A	COL6A3_uc002vwo.2_Silent_p.A2736A|COL6A3_uc010znj.1_Silent_p.A2335A|COL6A3_uc002vwj.2_Silent_p.A323A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2942	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2942A(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTACAGGCTTCGCTGCCGTTG	0.632000														80			20		0	0	0.014323	0	0
ATMIN	23300	broad.mit.edu	37	16	81077221	81077221	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:81077221A>G	uc002ffz.1	+	3	1136	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	ATMIN_uc002fga.2_Missense_Mutation_p.N215S|ATMIN_uc010vnn.1_Missense_Mutation_p.N144S|ATMIN_uc002fgb.1_Missense_Mutation_p.N215S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	373	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAAATTGCTAATCCTATTGCT	0.433000														61			8		0	0	0.003080	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131315	52131315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:52131315G>A	uc002pxe.3	-	4	908	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	257	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGGACCGGAAGGTATGAGGTG	0.622000														65			14		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179582511	179582511	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179582511T>A	uc021vsy.1	-	83	21583	c.21358A>T	c.(21358-21360)Aga>Tga	p.R7120*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R3781*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8047	Ig-like 53.						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)			TTCAGTTTTCTTGCAAAGAAA	0.408000														12			7		0	0	0.001984	0	0
GPR98	84059	broad.mit.edu	37	5	90041427	90041427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:90041427G>A	uc003kju.3	+	51	10885	c.10789G>A	c.(10789-10791)Gaa>Aaa	p.E3597K	GPR98_uc003kjt.3_Missense_Mutation_p.E1303K|GPR98_uc003kjv.3_Missense_Mutation_p.E1197K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3597	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.E3597K(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTGATATTTGAACCTGGTGA	0.313000														46			9		0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884687	228884687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:228884687C>T	uc002vpq.2	-	6	930	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	SPHKAP_uc002vpp.2_Missense_Mutation_p.A295T|SPHKAP_uc010zlx.1_Missense_Mutation_p.A295T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	295						cytoplasm	protein binding	p.T294T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGCAAGGCTGTGTTCTTT	0.418000														129			44		0	0	0.013114	0	0
DCTN4	51164	broad.mit.edu	37	5	150112930	150112930	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:150112930C>T	uc010jhi.3	-	5	639	c.537_splice	c.e5+1	p.S179_splice	DCTN4_uc003lsu.3_Splice_Site_p.S122_splice|DCTN4_uc003lsv.3_Splice_Site_p.S179_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.S122_splice	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	179						centrosome|nucleus	protein N-terminus binding	p.S179S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATTCTCACCGAAAAAGCCA	0.413000														41			12		0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9082421	9082421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9082421C>T	uc002mkp.3	-	0	9598	c.9394G>A	c.(9394-9396)Gaa>Aaa	p.E3132K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3133	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						GCTGTGGGTTCTGTGGGAGAA	0.483000														113			33		0	0	0.013726	0	0
C3orf20	84077	broad.mit.edu	37	3	14725854	14725854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:14725854G>A	uc003byy.3	+	3	1042	c.590G>A	c.(589-591)gGg>gAg	p.G197E	C3orf20_uc003byz.3_Missense_Mutation_p.G75E|C3orf20_uc003bza.3_Missense_Mutation_p.G75E|C3orf20_uc003byx.2_Missense_Mutation_p.G197E	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	197						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCACAGCCGGGAGAAGTGGC	0.547000														53			18		0	0	0.007413	0	0
GRID2	2895	broad.mit.edu	37	4	94377028	94377028	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:94377028G>A	uc011cdt.2	+	10	2019	c.1761G>A	c.(1759-1761)ttG>ttA	p.L587L	GRID2_uc011cdu.2_Silent_p.L492L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	587					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTACCTCTTGAACTGGCTTA	0.453000														85			26		0	0	0.006320	0	0
CCDC108	255101	broad.mit.edu	37	2	219883791	219883791	+	Missense_Mutation	SNP	C	T	T	rs147747619		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:219883791C>T	uc002vjl.1	-	20	3668	c.3584G>A	c.(3583-3585)gGa>gAa	p.G1195E	CCDC108_uc002vjm.3_Missense_Mutation_p.G80E	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1195						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGACACCACTCCGCTGTTCTT	0.597000														106			16		0	0	0.004007	0	0
GNRH2	2797	broad.mit.edu	37	20	3026366	3026366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:3026366C>T	uc002whr.1	+	3	398	c.347C>T	c.(346-348)tCc>tTc	p.S116F	GNRH2_uc002whp.1_Missense_Mutation_p.S109F|GNRH2_uc002whq.1_Missense_Mutation_p.S108F|GNRH2_uc010gau.1_Missense_Mutation_p.S116F|MRPS26_uc002whs.3_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	Homo sapiens gonadotropin-releasing hormone 2 (GNRH2), transcript variant 1, mRNA.	116					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						GCCCCGCCATCCTCCAATAAA	0.647000														58			12		0	0	0.006122	0	0
EPX	8288	broad.mit.edu	37	17	56272400	56272400	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:56272400T>C	uc002ivq.3	+	5	789	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	224					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AGCCCTCATGTTCATGCAGTG	0.602000														34			5		0	0	0.000602	0	0
BACH2	60468	broad.mit.edu	37	6	90718397	90718397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:90718397G>A	uc011eab.2	-	5	1041	c.167C>T	c.(166-168)gCc>gTc	p.A56V	BACH2_uc003pnw.3_Missense_Mutation_p.A56V|BACH2_uc010kch.3_Missense_Mutation_p.A56V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	56	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGCATGCGGCCAGCACAGC	0.512000														78			12		0	0	0.013537	0	0
OR6C3	254786	broad.mit.edu	37	12	55725574	55725574	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:55725574C>T	uc010spj.2	+	0	90	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	30					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						TTTTATTTATCACGTATATAT	0.418000														94			17		0	0	0.004990	0	0
LTN1	26046	broad.mit.edu	37	21	30357190	30357190	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:30357190G>A	uc002ymr.2	-	3	550	c.537C>T	c.(535-537)atC>atT	p.I179I	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	133							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTACTTTAAGGATAAGTTTTT	0.373000														32			9		0	0	0.006214	0	0
C14orf39	317761	broad.mit.edu	37	14	60921816	60921816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:60921816G>A	uc001xez.4	-	15	1516	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	C14orf39_uc010apo.3_Missense_Mutation_p.S180F	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	469										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAGTCCAGGGGATTCCTTTTC	0.294000														58			10		0	0	0.008291	0	0
MMP17	4326	broad.mit.edu	37	12	132323164	132323164	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:132323164C>T	uc001ujc.1	+	2	399	c.300C>T	c.(298-300)gcC>gcT	p.A100A	MMP17_uc001ujd.1_Silent_p.A16A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	100					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CAGACGAGGCCACCCTGGCCC	0.662000														20			5		0	0	0.001168	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090780	91090780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:91090780C>T	uc004efk.2	+	0	1122	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	PCDH11X_uc004efl.2_Missense_Mutation_p.R93C|PCDH11X_uc010nmv.2_Missense_Mutation_p.R93C|PCDH11X_uc004efm.2_Missense_Mutation_p.R93C|PCDH11X_uc004efn.2_Missense_Mutation_p.R93C|PCDH11X_uc004efo.2_Missense_Mutation_p.R93C|PCDH11X_uc004efh.2_Missense_Mutation_p.R93C|PCDH11X_uc004efj.1_Missense_Mutation_p.R93C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	93	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCGCATTGATCGTGAGAAATT	0.443000														78			41		0	0	0.009718	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329826	21329826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:21329826G>A	uc001req.4	+	4	580	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	159					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GAGATAGTGGGAAAAGGTAAG	0.259000														37			6		0	0	0.001984	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21550559	21550559	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:21550559C>T	uc001vzp.3	+	14	3437	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	ARHGEF40_uc001vzo.1_Silent_p.F215F|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Silent_p.F422F	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	1136	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TTCGCAGCTTCCACCGGACAC	0.652000														38			4		0	0	0.009096	0	0
SAG	6295	broad.mit.edu	37	2	234247353	234247353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:234247353G>A	uc002vuh.2	+	11	1364	c.976G>A	c.(976-978)Gga>Aga	p.G326R	SAG_uc010zmq.1_Missense_Mutation_p.G192R	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	326					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GACCGTCCTGGGAATCCTGGT	0.552000														68			13		0	0	0.004007	0	0
RMND5A	64795	broad.mit.edu	37	2	86979111	86979111	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:86979111C>T	uc002srr.2	+	2	755	c.378C>T	c.(376-378)ttC>ttT	p.F126F	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	126	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGGAGCACTTCTTTCGACAAG	0.483000														40			5		0	0	0.001168	0	0
LRP2	4036	broad.mit.edu	37	2	170055365	170055365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:170055365G>A	uc002ues.3	-	44	8722	c.8509C>T	c.(8509-8511)Cct>Tct	p.P2837S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2837	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAAACGCGAGGAATACAAATA	0.358000														17			8		0	0	0.004482	0	0
TLR4	7099	broad.mit.edu	37	9	120470847	120470847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:120470847C>T	uc004bjz.3	+	1	391	c.100C>T	c.(100-102)Cct>Tct	p.P34S	TLR4_uc004bkb.3_Intron|TLR4_uc004bka.3_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	34					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.P34S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCAGGTGGTTCCTAATATTAC	0.463000														53			16		0	0	0.004007	0	0
RSPO2	340419	broad.mit.edu	37	8	109001381	109001381	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:109001381G>A	uc003yms.3	-	2	844	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	62					Wnt receptor signaling pathway	extracellular region	heparin binding	p.F62S(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCTTCGAAGGAAGAAGAACA	0.473000														44			8		0	0	0.003080	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735289	55735289	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:55735289C>T	uc010rit.2	-	0	651	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGACAATTTCAAAATGTTGG	0.393000														26			7		0	0	0.003080	0	0
OR8J1	219477	broad.mit.edu	37	11	56128027	56128027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56128027G>A	uc010rjh.2	+	0	337	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCCAACTGGGAGGGTTCTTG	0.413000														83			30		0	0	0.008361	0	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:10920116C>T	uc002yip.1	-	18	1506	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E362K|TPTE_uc002yir.1_Missense_Mutation_p.E342K|TPTE_uc010gkv.1_Missense_Mutation_p.E242K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(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)		TGAAATTTTTCGCTGTGGGTT	0.393000														63			8		0	0	0.004482	0	0
KIF18B	146909	broad.mit.edu	37	17	43009545	43009545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:43009545C>T	uc010wji.2	-	9	1405	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	KIF18B_uc002iht.3_Missense_Mutation_p.G435E|KIF18B_uc010wjh.2_Missense_Mutation_p.G423E	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCTCTAGGCCCTGCAGGGAG	0.637000														41			11		0	0	0.010729	0	0
PMS2	5395	broad.mit.edu	37	7	6042238	6042238	+	Missense_Mutation	SNP	G	A	A	rs116373169	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:6042238G>A	uc003spl.3	-	4	470	c.383C>T	c.(382-384)tCg>tTg	p.S128L	PMS2_uc003spj.3_Missense_Mutation_p.S22L|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_5'UTR|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.S128L|PMS2_uc010ktf.2_Missense_Mutation_p.S128L	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	128					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AACCTTCGCCGATGCGTGGCA	0.522000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					98			21		0	0	0.004656	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947246	57947246	+	Silent	SNP	C	T	T	rs139179075	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:57947246C>T	uc021qjm.1	+	0	330	c.330C>T	c.(328-330)atC>atT	p.I110I	OR9Q1_uc001nmj.3_Silent_p.I110I	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGGTTCCATCGACTGCTACC	0.562000														52			29		0	0	0.009535	0	0
GPR98	84059	broad.mit.edu	37	5	89990344	89990344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:89990344G>A	uc003kju.3	+	32	7867	c.7771G>A	c.(7771-7773)Gaa>Aaa	p.E2591K	GPR98_uc003kjt.3_Missense_Mutation_p.E297K|GPR98_uc003kjv.3_Missense_Mutation_p.E191K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2591					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.E2591D(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAATACTTCCGAAGATGGCTT	0.458000														195			42		0	0	0.014410	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599645	136599645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:136599645G>A	uc003qgx.1	-	3	627	c.374C>T	c.(373-375)tCc>tTc	p.S125F	BCLAF1_uc003qgy.1_Missense_Mutation_p.S123F|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S123F|BCLAF1_uc003qgw.1_Missense_Mutation_p.S125F	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	125					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGCTTCTGGATCTTTGAGA	0.448000														199			23		0	0	0.003330	0	0
CPEB3	22849	broad.mit.edu	37	10	93952255	93952255	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:93952255T>C	uc001khw.2	-	2	1348	c.1144A>G	c.(1144-1146)Atg>Gtg	p.M382V	CPEB3_uc001khu.2_Missense_Mutation_p.M382V|CPEB3_uc001khv.2_Intron|CPEB3_uc010qnn.2_Intron	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	382							RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTCCTCCACATTATATCAGCG	0.373000														55			12		0	0	0.003163	0	0
IQSEC3	440073	broad.mit.edu	37	12	274620	274620	+	Silent	SNP	G	A	A	rs144152224		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:274620G>A	uc001qhw.2	+	9	2730	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	IQSEC3_uc001qhu.1_Silent_p.K607K	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	910	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TTTGCCCGAAGAAGAAGAGCT	0.522000														134			36		0	0	0.007835	0	0
USP26	83844	broad.mit.edu	37	X	132160265	132160265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:132160265C>T	uc011mvf.2	-	0	2036	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	USP26_uc010nrm.1_Missense_Mutation_p.E662K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	662					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GAGGTATCTTCCAGATACGTC	0.428000														21			15		0	0	0.004990	0	0
SYNE1	23345	broad.mit.edu	37	6	152552588	152552588	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:152552588C>A	uc021zhb.1	-	111	21200	c.20977G>T	c.(20977-20979)Gct>Tct	p.A6993S	SYNE1_uc003qos.4_Missense_Mutation_p.A1517S|SYNE1_uc003qot.4_Missense_Mutation_p.A6922S|SYNE1_uc003qou.4_Missense_Mutation_p.A6993S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6993					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTGCTCAGCAAAATCAGTC	0.423000										HNSCC(10;0.0054)				49			9		3.09899e-07	3.38232e-07	0.004482	1	0
ITGAD	3681	broad.mit.edu	37	16	31419746	31419746	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:31419746G>A	uc010cap.1	+	10	1059	c.1010_splice	c.e10-1	p.G337_splice	ITGAD_uc010vfl.1_Splice_Site|ITGAD_uc002ebv.1_Splice_Site_p.G337_splice|ITGAD_uc002ebw.1_Splice_Site	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	337					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCCCCACAGGAACCCAGTCC	0.547000														34			5		0	0	0.000602	0	0
ERBB4	2066	broad.mit.edu	37	2	212495282	212495282	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:212495282A>G	uc002veg.1	-	16	2082	c.1984T>C	c.(1984-1986)Ttc>Ctc	p.F662L	ERBB4_uc002veh.1_Missense_Mutation_p.F662L|ERBB4_uc010zji.1_Missense_Mutation_p.F652L|ERBB4_uc010zjj.1_Missense_Mutation_p.F652L|ERBB4_uc010fut.1_Missense_Mutation_p.F662L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	662					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.F662L(2)|p.L661V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCAGAATGAAGAGCCCACCA	0.403000										TSP Lung(8;0.080)				65			20		0	0	0.012319	0	0
CUZD1	50624	broad.mit.edu	37	10	124593224	124593224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:124593224G>A	uc001lgs.3	-	9	2566	c.1615C>T	c.(1615-1617)Cgt>Tgt	p.R539C	CUZD1_uc001lgp.3_Missense_Mutation_p.R258C|CUZD1_uc009yad.3_Missense_Mutation_p.R258C|CUZD1_uc009yaf.3_Missense_Mutation_p.R173C|CUZD1_uc001lgr.3_Missense_Mutation_p.R258C|CUZD1_uc010qty.2_Missense_Mutation_p.R258C|CUZD1_uc009yae.3_Missense_Mutation_p.R258C|CUZD1_uc010qtz.2_Missense_Mutation_p.R539C	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	539					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTTTCAGACGAATGGGTCCT	0.423000														97			26		0	0	0.008361	0	0
GLI3	2737	broad.mit.edu	37	7	42004227	42004227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:42004227G>A	uc011kbh.2	-	14	4535	c.4444C>T	c.(4444-4446)Cca>Tca	p.P1482S	GLI3_uc011kbg.2_Missense_Mutation_p.P1423S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1482					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTAGCACCTGGGGAAAGTAAC	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					44			19		0	0	0.014323	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45218339	45218339	+	Missense_Mutation	SNP	G	A	A	rs55849456	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:45218339G>A	uc003bfd.3	+	10	1382	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.E281K|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.E195K|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.E159K|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.E159K|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.E190K|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.E159K|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CATCCCTCCCGAAGTTTTGCG	0.468000														59			13		0	0	0.013537	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703807	60703807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:60703807G>A	uc001nqi.3	+	10	2696	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	TMEM132A_uc001nqj.3_Missense_Mutation_p.E834K	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	834	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ggaagaggaggaggagATGGT	0.607000														107			40		0	0	0.008740	0	0
EIF2C4	192670	broad.mit.edu	37	1	36299718	36299718	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:36299718A>G	uc001bzj.2	+	11	1697	c.1507A>G	c.(1507-1509)Act>Gct	p.T503A		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	503					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTGAAAATGACTTATGTGGG	0.453000														44			5		0	0	0.001168	0	0
SIK3	23387	broad.mit.edu	37	11	116732561	116732561	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:116732561G>A	uc001ppy.3	-	16	2029	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*	SIK3_uc001ppz.3_Nonsense_Mutation_p.Q564*|SIK3_uc001pqa.3_Nonsense_Mutation_p.Q665*|SIK3_uc001ppw.3_Nonsense_Mutation_p.Q82*|SIK3_uc001ppx.3_Silent_p.S139S|SIK3_uc001pqb.3_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	665	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATACCTCTGGAGCTGATGG	0.488000											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		220			36		0	0	0.005524	0	0
NRP1	8829	broad.mit.edu	37	10	33545362	33545362	+	Silent	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:33545362T>G	uc001iwx.4	-	4	1219	c.696A>C	c.(694-696)acA>acC	p.T232T	NRP1_uc001iwv.4_Silent_p.T232T|NRP1_uc001iwy.4_Silent_p.T232T|NRP1_uc009xlz.3_Silent_p.T232T|NRP1_uc001iww.4_Silent_p.T51T|NRP1_uc001iwz.2_Silent_p.T232T|NRP1_uc001ixa.2_Silent_p.T232T|NRP1_uc001ixb.2_Silent_p.T232T|NRP1_uc001ixc.1_Silent_p.T232T	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	232	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCGACCTGGTGTTTTCTGTC	0.473000														38			5		0	0	0.001168	0	0
APBA1	320	broad.mit.edu	37	9	72082853	72082853	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:72082853G>A	uc004ahh.2	-	4	1644	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	456					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGATTCCATCGATCAAGTCTT	0.562000														142			49		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229995	140229995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140229995G>A	uc003lhu.2	+	0	2639	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.E639K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	650	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGGACGAAACGGACGC	0.667000														53			5		0	0	0.001168	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222575	152222575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:152222575C>T	uc002txk.3	+	2	313	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	FW340097_uc021vqy.1_Intron|MIR4773-1_uc021vqz.1_5'Flank	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	80	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TGCAGGATTTCATGTCTGTGC	0.423000														97			21		0	0	0.002780	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155672	173155672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:173155672C>T	uc001giw.3	-	2	691	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	TNFSF4_uc001giv.3_Missense_Mutation_p.E129K	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	179					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						ACACAGAATTCACCAGGATTT	0.468000														48			8		0	0	0.004482	0	0
OR10J1	26476	broad.mit.edu	37	1	159409881	159409881	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:159409881G>A	uc010piv.2	+	0	370	c.333G>A	c.(331-333)caG>caA	p.Q111Q	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	111					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)					GTGCCACACAGATGTTCTTTT	0.488000														47			8		0	0	0.004482	0	0
LIPH	200879	broad.mit.edu	37	3	185232237	185232237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:185232237C>T	uc003fpm.3	-	7	1165	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	LIPH_uc010hyh.3_Missense_Mutation_p.R318K	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	352					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.R352T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AGCTTTGTCTCTCAATTTGAT	0.363000														398			99		0	0	0.014410	0	0
ISX	91464	broad.mit.edu	37	22	35478635	35478635	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:35478635G>A	uc003anj.3	+	1	1305	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TGGCAGCCAGGATCAACCTCC	0.572000														30			10		0	0	0.010729	0	0
OR52K1	390036	broad.mit.edu	37	11	4511075	4511075	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4511075G>A	uc001lza.2	+	0	967	c.945G>A	c.(943-945)taG>taA	p.*315*		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGAACATGTAGATGGATAGTT	0.398000														54			12		0	0	0.013537	0	0
SPZ1	84654	broad.mit.edu	37	5	79617343	79617343	+	RNA	SNP	G	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:79617343G>T	uc011ctk.1	-	0		c.316C>A			SPZ1_uc003kgn.3_3'UTR			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACCAAAAGCAGATGAAAAGGT	0.393000														27			8		0.00307968	0.00332954	0.003080	1	0
XYLT1	64131	broad.mit.edu	37	16	17235063	17235063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:17235063C>T	uc002dfa.3	-	6	1619	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	512					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCACCAGATCGTCTGTGGAG	0.517000														217			34		0	0	0.005524	0	0
NLGN2	57555	broad.mit.edu	37	17	7318850	7318850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:7318850C>T	uc002ggt.1	+	5	1131	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	353					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCCTTTGGGCCCGTGGTGGAT	0.612000														45			7		0	0	0.001984	0	0
DMBT1	1755	broad.mit.edu	37	10	124358529	124358529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:124358529G>A	uc001lgk.1	+	25	3302	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1056K|DMBT1_uc001lgm.1_Missense_Mutation_p.E567K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1066K|DMBT1_uc021qag.1_Missense_Mutation_p.E1056K|DMBT1_uc021qah.1_Missense_Mutation_p.E567K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1066K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.E27K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1066	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACACGAGTCTTACCT	0.597000														115			25		0	0	0.003330	0	0
KCNN3	3782	broad.mit.edu	37	1	154685954	154685954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:154685954C>T	uc021pah.1	-	7	2244	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	KCNN3_uc001ffo.3_Missense_Mutation_p.V324M|KCNN3_uc001ffp.3_Missense_Mutation_p.V629M	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	634						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GAAAGGTCCACCAGAGTGTTG	0.547000														54			11		0	0	0.013537	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708900	96708900	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:96708900C>T	uc001kka.4	+	4	703	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CYP2C9_uc009xut.3_Silent_p.F226F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	226					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTGATTACTTCCCGGGAACTC	0.269000														44			9		0	0	0.004482	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118065	118065	+	RNA	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrGL000205.1:118065G>A	uc002kgk.4	+	0		c.1443G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTTTGCTCGGGGTCTGTTG	0.572000														48			6		0	0	0.003080	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019062	41019062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:41019062G>A	uc003jmj.4	-	24	2990	c.2500C>T	c.(2500-2502)Cgg>Tgg	p.R834W	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R389W	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	834							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						AGCAGCCTCCGAATATTCTCC	0.463000														30			8		0	0	0.003080	0	0
TBC1D9	23158	broad.mit.edu	37	4	141583072	141583072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:141583072C>T	uc010ioj.3	-	9	2050	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	593	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GTTGGGATTTCGAAAAGCATA	0.398000														26			12		0	0	0.010729	0	0
WRAP73	49856	broad.mit.edu	37	1	3551599	3551600	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:3551599_3551600CC>TT	uc001ako.3	-	7	885_886	c.777_778GG>AA	c.(775-780)acggag>acAAag	p.E260K	WRAP73_uc001akn.3_Missense_Mutation_p.E260K|WRAP73_uc010nzi.2_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	260						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TGCCCAAACTCCGTGATCATTT	0.564000														147			33		0	0	0.004672	0	0
F13A1	2162	broad.mit.edu	37	6	6225016	6225016	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:6225016G>A	uc003mwv.3	-	6	999	c.876C>T	c.(874-876)gcC>gcT	p.A292A	F13A1_uc011dib.2_Silent_p.A229A	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	292					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCAGTCCAGGCCGATGGGG	0.498000														72			19		0	0	0.007413	0	0
SCAF1	58506	broad.mit.edu	37	19	50156263	50156263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50156263C>T	uc002poq.3	+	6	2741	c.2617C>T	c.(2617-2619)Cgc>Tgc	p.R873C		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	873					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCGCGAGAGTCGCTCCCCCTT	0.652000														35			6		0	0	0.001168	0	0
RP1	6101	broad.mit.edu	37	8	55538031	55538031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:55538031C>T	uc003xsd.1	+	3	1737	c.1589C>T	c.(1588-1590)tCa>tTa	p.S530L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	530					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGAGTCATCATTAGAAAGA	0.333000														23			9		0	0	0.004482	0	0
PARD3	56288	broad.mit.edu	37	10	34573160	34573160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:34573160G>A	uc010qej.2	-	20	3418	c.3088C>T	c.(3088-3090)Cga>Tga	p.R1030*	PARD3_uc010qep.2_Nonsense_Mutation_p.R940*|PARD3_uc010qeq.2_Intron|PARD3_uc010qek.2_Nonsense_Mutation_p.R1027*|PARD3_uc010qel.2_Intron|PARD3_uc010qem.2_Nonsense_Mutation_p.R1014*|PARD3_uc010qen.2_Nonsense_Mutation_p.R984*|PARD3_uc010qeo.2_Intron	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1030	Lys-rich.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCTTTTCGATGTTTGCCA	0.338000														76			13		0	0	0.013537	0	0
CCDC141	285025	broad.mit.edu	37	2	179736992	179736992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179736992C>T	uc002une.2	-	12	2065	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	CCDC141_uc002unf.1_Missense_Mutation_p.M128I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	74							protein binding	p.M74I(1)|p.M649I(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGGTGTTCTTCATGAGGTACA	0.408000														50			5		0	0	0.000602	0	0
WDR96	80217	broad.mit.edu	37	10	105942240	105942240	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:105942240G>A	uc001kxw.3	-	16	2289	c.2173C>T	c.(2173-2175)Ctg>Ttg	p.L725L	WDR96_uc009xxq.3_Silent_p.L33L|WDR96_uc001kxx.4_Silent_p.L726L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	725										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAATAGTCCAGAATTTCACTG	0.348000														44			6		0	0	0.001168	0	0
SOAT1	6646	broad.mit.edu	37	1	179304712	179304712	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:179304712G>A	uc001gml.3	+	3	480	c.249G>A	c.(247-249)aaG>aaA	p.K83K	SOAT1_uc010pni.2_Silent_p.K18K|SOAT1_uc001gmm.3_Silent_p.K25K|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Silent_p.K18K	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCATTGAAAAGTCAGCATCAT	0.358000														56			9		0	0	0.004482	0	0
KITLG	4254	broad.mit.edu	37	12	88900815	88900815	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:88900815A>G	uc001tav.3	-	6	899	c.704T>C	c.(703-705)tTa>tCa	p.L235S	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Missense_Mutation_p.L207S|KITLG_uc009zso.1_Non-coding_Transcript	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	235					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CTTCCAGTATAAGGCTCCAAA	0.388000									Testicular Cancer, Familial Clustering of					61			17		0	0	0.008871	0	0
MYH9	4627	broad.mit.edu	37	22	36715637	36715637	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:36715637G>A	uc003apg.3	-	9	1287	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	MYH9_uc003aph.1_Silent_p.I216I	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	352	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTTGAAGACGATGTTGCCGA	0.592000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					32			8		0	0	0.003080	0	0
C22orf31	25770	broad.mit.edu	37	22	29456719	29456719	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:29456719T>C	uc003aej.1	-	1	243	c.116A>G	c.(115-117)aAc>aGc	p.N39S		NM_015370	NP_056185	O95567	CV031_HUMAN	Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.	39										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CATCCAGATGTTGGTGAGAGC	0.498000														124			27		0	0	0.012213	0	0
PTPRT	11122	broad.mit.edu	37	20	40747136	40747136	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:40747136C>T	uc002xkg.3	-	20	3073	c.2889G>A	c.(2887-2889)ccG>ccA	p.P963P	PTPRT_uc010ggj.3_Silent_p.P982P|PTPRT_uc010ggi.3_Silent_p.P166P	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	963	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTCCTGCATCGGACCTGCCA	0.537000														44			23		0	0	0.003330	0	0
SLC22A16	85413	broad.mit.edu	37	6	110757128	110757128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:110757128C>T	uc003puf.3	-	5	1415	c.1348G>A	c.(1348-1350)Gga>Aga	p.G450R	SLC22A16_uc003pue.3_Missense_Mutation_p.G431R	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	450					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCAAATTTTCCAACCATAGCT	0.348000														37			11		0	0	0.010729	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092868	151092868	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:151092868G>A	uc022cgv.1	+	0	732	c.732G>A	c.(730-732)agG>agA	p.R244R	MAGEA4_uc004fez.3_Silent_p.R244R|MAGEA4_uc004ffa.3_Silent_p.R244R|MAGEA4_uc004ffb.3_Silent_p.R244R|MAGEA4_uc022cgu.1_Silent_p.R272R|MAGEA4_uc004ffc.3_Silent_p.R244R|MAGEA4_uc004ffd.3_Silent_p.R244R	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	244	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGCCCAGGAAACTGCTCA	0.592000														43			22		0	0	0.014323	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:51025778C>T	uc002lfe.2	+	26	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_uc010dpf.2_Nonsense_Mutation_p.R970*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1337					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)		AGCTTGTGTTCGACCAACTCA	0.532000														73			24		0	0	0.002780	0	0
VWA5A	4013	broad.mit.edu	37	11	123989280	123989280	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:123989280A>G	uc001pzu.3	+	5	719	c.510A>G	c.(508-510)atA>atG	p.I170M	VWA5A_uc001pzr.3_Missense_Mutation_p.I170M|VWA5A_uc001pzs.3_Missense_Mutation_p.I170M|VWA5A_uc010sae.2_Missense_Mutation_p.I186M|VWA5A_uc001pzt.3_Missense_Mutation_p.I170M	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	170										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTCCTATAGTCCCTGTGG	0.478000														93			27		0	0	0.003954	0	0
SH3GL2	6456	broad.mit.edu	37	9	17791249	17791249	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:17791249C>T	uc003zna.3	+	6	933	c.645C>T	c.(643-645)ctC>ctT	p.L215L	SH3GL2_uc011lmy.2_Silent_p.L168L	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	215	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGAGCCAGCTCTCTGCACTTG	0.473000														100			10		0	0	0.001855	0	0
TLR9	54106	broad.mit.edu	37	3	52265180	52265180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:52265180G>A	uc003ddd.3	-	4	597	c.446C>T	c.(445-447)tCg>tTg	p.S149L	TLR9_uc003ddb.3_5'UTR|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCTCTCAGCCGAGGTCAGCGG	0.617000														136			30		0	0	0.013726	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217156	150217156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:150217156G>A	uc003whk.3	+	1	224	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	GIMAP7_uc022apu.1_Missense_Mutation_p.E32K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	32							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGGAGAGGAAATCTTTGA	0.507000														38			12		0	0	0.010729	0	0
EBF2	64641	broad.mit.edu	37	8	25708118	25708118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:25708118C>T	uc003xes.2	-	14	1953	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	563					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G563R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCTCTGAATCCATTTCCATT	0.488000														70			14		0	0	0.004007	0	0
VPS13D	55187	broad.mit.edu	37	1	12374214	12374214	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12374214C>T	uc001atv.3	+	29	7119	c.6978C>T	c.(6976-6978)tcC>tcT	p.S2326S	VPS13D_uc001atw.3_Silent_p.S2326S|VPS13D_uc001atx.3_Silent_p.S1514S|VPS13D_uc001aty.1_Silent_p.S64S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2326					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAGTTTTTCCAACCAAACCA	0.403000														24			5		0	0	0.000602	0	0
CDC25B	994	broad.mit.edu	37	20	3779074	3779074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:3779074C>T	uc002wjn.3	+	2	1122	c.344C>T	c.(343-345)tCc>tTc	p.S115F	CDC25B_uc010zqk.2_Missense_Mutation_p.S51F|CDC25B_uc010zql.2_Missense_Mutation_p.S37F|CDC25B_uc010zqm.2_Missense_Mutation_p.S51F|CDC25B_uc002wjl.3_Missense_Mutation_p.S3F|CDC25B_uc002wjm.3_Missense_Mutation_p.S3F|CDC25B_uc021waa.1_Missense_Mutation_p.S3F|CDC25B_uc002wjo.3_Missense_Mutation_p.S101F|CDC25B_uc002wjp.3_Missense_Mutation_p.S115F|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.	115					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						TGCATGGATTCCCCCAGCCCT	0.478000														122			25		0	0	0.007291	0	0
SNHG12	85028	broad.mit.edu	37	1	28905116	28905116	+	RNA	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:28905116A>C	uc001bqk.3	-	5		c.673T>G			SNHG12_uc001bql.3_Non-coding_Transcript|SNHG12_uc001bqm.3_Non-coding_Transcript|SNHG12_uc001bqn.3_Non-coding_Transcript|SNHG12_uc001bqo.3_Non-coding_Transcript					Homo sapiens small nucleolar RNA host gene 12 (non-protein coding) (SNHG12), non-coding RNA.																		ACACTGCATAATTTTTTGCAT	0.368000														27			7		0	0	0.001984	0	0
ACVR1C	130399	broad.mit.edu	37	2	158400965	158400965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:158400965C>T	uc002tzk.4	-	4	1178	c.935G>A	c.(934-936)gGt>gAt	p.G312D	ACVR1C_uc002tzl.4_Missense_Mutation_p.G232D|ACVR1C_uc010fof.3_Missense_Mutation_p.G155D|ACVR1C_uc010foe.3_Missense_Mutation_p.G262D	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	312	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ACCTTGTGTACCAACAATCTC	0.333000														44			8		0	0	0.008291	0	0
TRIO	7204	broad.mit.edu	37	5	14304662	14304662	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:14304662C>T	uc003jff.3	+	7	1467	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.H438H|TRIO_uc003jfh.1_Silent_p.H136H	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	487					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCATCACCACCAGGGAATAT	0.443000														74			14		0	0	0.002450	0	0
SETBP1	26040	broad.mit.edu	37	18	42530559	42530559	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:42530559G>A	uc010dni.3	+	3	1550	c.1254G>A	c.(1252-1254)agG>agA	p.R418R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	418						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCATAAGAGGAAAAAAAGAC	0.453000									Schinzel-Giedion syndrome					34			11		0	0	0.010729	0	0
SEPT11	55752	broad.mit.edu	37	4	77941690	77941690	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:77941690C>T	uc011cca.2	+	8	1202	c.850C>T	c.(850-852)Cga>Tga	p.R284*	SEPT11_uc010ijh.1_Nonsense_Mutation_p.R266*|SEPT11_uc003hkj.3_Nonsense_Mutation_p.R274*|SEPT11_uc003hkk.1_Nonsense_Mutation_p.R74*			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	274					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.R274*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGTGAAACTTCGAGAGATGCT	0.473000														45			10		0	0	0.008291	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348180	77348180	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:77348180A>T	uc002bcj.3	-	2	555	c.281T>A	c.(280-282)tTt>tAt	p.F94Y	TSPAN3_uc002bck.3_Intron|TSPAN3_uc010ump.2_Missense_Mutation_p.F30Y	NM_005724	NP_005715	O60637	TSN3_HUMAN	Homo sapiens tetraspanin 3 (TSPAN3), transcript variant 1, mRNA.	94						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		TTCTGTGACAAAAACCAAGAG	0.299000														67			14		0	0	0.007413	0	0
TMEM39B	55116	broad.mit.edu	37	1	32560427	32560427	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:32560427C>T	uc010ogv.2	+	6	1116	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Silent_p.L197L|TMEM39B_uc001buf.4_Silent_p.L125L|TMEM39B_uc010ogw.2_Silent_p.L125L	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	Homo sapiens transmembrane protein 39B (TMEM39B), mRNA.	324						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAACTCTTCCTGCTGGTGTC	0.582000														80			17		0	0	0.007413	0	0
NPNT	255743	broad.mit.edu	37	4	106879666	106879666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:106879666G>A	uc011cfd.2	+	9	1501	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	NPNT_uc011cfc.2_Missense_Mutation_p.E417K|NPNT_uc011cfe.2_Intron|NPNT_uc003hya.3_Missense_Mutation_p.E400K|NPNT_uc011cff.2_Intron	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	400	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAAATATTTGAAATAGAAAG	0.388000														26			6		0	0	0.001984	0	0
TLE2	7089	broad.mit.edu	37	19	3013779	3013779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:3013779G>A	uc010dth.3	-	10	1027	c.764C>T	c.(763-765)cCc>cTc	p.P255L	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.P254L|TLE2_uc010xhc.2_Missense_Mutation_p.P132L|TLE2_uc010dti.3_Missense_Mutation_p.P268L|TLE2_uc010xhd.1_Missense_Mutation_p.P162L	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	254	CCN domain.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCCGCAGGGGGTGGTAGC	0.607000														104			16		0	0	0.004007	0	0
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:47527697G>A	uc002leb.2	-	4	828	c.540C>T	c.(538-540)ttC>ttT	p.F180F	MYO5B_uc021ukb.1_Silent_p.F179F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	180	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACGGTGGCGAAATAGCGCA	0.532000														100			20		0	0	0.010504	0	0
LRP1B	53353	broad.mit.edu	37	2	142004865	142004865	+	Silent	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:142004865T>A	uc002tvj.1	-	4	1494	c.522A>T	c.(520-522)ggA>ggT	p.G174G	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	174	EGF-like 2; calcium-binding (Potential).				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)		AAGTGTAGGATCCATGTGTGT	0.388000										TSP Lung(27;0.18)				62			16		0	0	0.004007	0	0
BIRC8	112401	broad.mit.edu	37	19	53793219	53793219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:53793219G>A	uc002qbk.3	-	0	1657	c.409C>T	c.(409-411)Caa>Taa	p.Q137*		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	137					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CCAGATGTTTGAATTCTTTCC	0.373000														96			15		0	0	0.003163	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001140	121001140	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:121001140A>G	uc003eec.4	+	19	2278	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	STXBP5L_uc011bji.2_Intron	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	713					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)		GGCCTGTCTAACTTTTATCCT	0.388000														42			7		0	0	0.006214	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801341	185801341	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:185801341G>A	uc002uph.3	+	3	1812	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	406						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATACTGAAGAGGTTAACATAA	0.388000														96			18		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720972	140720973	+	Missense_Mutation	DNP	CT	GA	GA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140720972_140720973CT>GA	uc011dao.2	+	0	2619_2620	c.2434_2435CT>GA	c.(2434-2436)ctt>GAt	p.L812D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dap.2_5'Flank	NM_032009	NP_114398	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 2, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAATCTATCTTTTCACAACA	0.376000														44			7		0	0	0.004672	0	0
UPB1	51733	broad.mit.edu	37	22	24919732	24919732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:24919732G>A	uc003aaf.3	+	8	2357	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	UPB1_uc003aae.3_Nonsense_Mutation_p.W286*|UPB1_uc021wnh.1_Non-coding_Transcript	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	354	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ATGATGTCTGGAACTTCAAGG	0.597000														108			20		0	0	0.002780	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870404	51870404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:51870404C>T	uc002xwo.3	+	1	1294	c.407C>T	c.(406-408)tCc>tTc	p.S136F	TSHZ2_uc021wex.1_Missense_Mutation_p.S133F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	136					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGTCGGATTCCTACTGGTCA	0.512000														65			7		0	0	0.004482	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349733	6349733	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:6349733G>A	uc003gja.3	-	5	654	c.630C>T	c.(628-630)atC>atT	p.I210I	PPP2R2C_uc003gjb.3_Silent_p.I193I|PPP2R2C_uc003gjc.3_Silent_p.I210I|PPP2R2C_uc011bwd.2_Silent_p.I203I|PPP2R2C_uc011bwe.2_Silent_p.I203I|PPP2R2C_uc003gjd.1_Silent_p.I298I	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	210					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGATGTCCACGATGTCTGGGG	0.597000														46			11		0	0	0.013537	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001861	41001861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:41001861C>T	uc003opi.3	-	2	544	c.445G>A	c.(445-447)Gac>Aac	p.D149N	UNC5CL_uc010jxe.1_Missense_Mutation_p.D149N	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	149	ZU5.				signal transduction	cytoplasm|integral to membrane		p.S148S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GATGGGGCGTCCGACAGGTCC	0.652000														35			10		0	0	0.006214	0	0
RORB	6096	broad.mit.edu	37	9	77275589	77275589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:77275589G>A	uc004aji.3	+	4	776	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	RORB_uc004ajh.3_Missense_Mutation_p.E232K	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	243	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATACACCATGGAAGAGCTGCA	0.403000														88			15		0	0	0.002450	0	0
FGFR1	2260	broad.mit.edu	37	8	38282033	38282033	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:38282033G>A	uc022aua.1	-	6	1872	c.930C>T	c.(928-930)atC>atT	p.I310I	FGFR1_uc011lbu.2_Silent_p.I341I|FGFR1_uc011lbv.2_Silent_p.I308I|FGFR1_uc011lbw.2_Silent_p.I221I|FGFR1_uc003xlp.3_Silent_p.I310I|FGFR1_uc022aub.1_Silent_p.I308I|FGFR1_uc022auc.1_Silent_p.I221I|FGFR1_uc022aud.1_Silent_p.I219I|FGFR1_uc010lwk.3_Silent_p.I302I|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Silent_p.I150I|FGFR1_uc011lbt.1_Silent_p.I219I|FGFR1_uc011lbx.1_Silent_p.I221I|FGFR1_uc003xlv.3_Silent_p.I221I|FGFR1_uc003xlu.3_Silent_p.I219I	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	310	Ig-like C2-type 3.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTACCTTCAAGATCTGGACAT	0.567000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							70			13		0	0	0.001855	0	0
GRM3	2913	broad.mit.edu	37	7	86493639	86493639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:86493639G>A	uc003uid.3	+	5	3707	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	GRM3_uc010lef.3_Missense_Mutation_p.G512E|GRM3_uc010leg.3_Missense_Mutation_p.E742K|GRM3_uc010leh.3_Missense_Mutation_p.E462K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	870					synaptic transmission	integral to plasma membrane		p.R869R(2)|p.E870K(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAATGGGCGGGAAGTCCTCGA	0.468000														95			20		0	0	0.004656	0	0
CARD14	79092	broad.mit.edu	37	17	78165120	78165120	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:78165120A>C	uc002jxw.1	+	8	1284	c.1090_splice	c.e8-2	p.A364_splice	CARD14_uc002jxt.1_Splice_Site|CARD14_uc002jxv.3_Splice_Site_p.A364_splice|CARD14_uc010wud.1_Splice_Site|CARD14_uc002jxx.3_Splice_Site_p.A127_splice|CARD14_uc010dhu.1_Splice_Site_p.A162_splice	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	364					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTGGCCCACAGGCGTACTCC	0.632000														47			5		0	0	0.001984	0	0
MLKL	197259	broad.mit.edu	37	16	74729605	74729605	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:74729605C>T	uc002fdb.2	-	1	492	c.51G>A	c.(49-51)cgG>cgA	p.R17R	MLKL_uc002fdc.2_Silent_p.R17R	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	17							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTCTTCACACCGTTTGTGGA	0.498000														64			8		0	0	0.006214	0	0
COL5A2	1290	broad.mit.edu	37	2	189933543	189933543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:189933543G>A	uc002uqk.3	-	18	1501	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	409					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGACCTGGGGGCCCAGTTTC	0.498000														54			7		0	0	0.003080	0	0
TGM4	7047	broad.mit.edu	37	3	44945383	44945383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:44945383C>T	uc003coc.4	+	8	1052	c.979C>T	c.(979-981)Cat>Tat	p.H327Y		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	327					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.F326L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CAGGAATTTCCATGTGTGGAC	0.587000														132			25		0	0	0.003954	0	0
KRT34	3885	broad.mit.edu	37	17	39535215	39535215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39535215C>T	uc002hwm.3	-	5	1228	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	406	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CACTTGCAGTCCTCACTCTCC	0.537000														70			9		0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784793	140784793	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140784793C>T	uc003lkh.2	+	0	2274	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	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_uc011dax.2_Silent_p.S758S|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	763					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)			AGGAGTTCTCCCTCACCGCTG	0.537000														53			11		0	0	0.002450	0	0
F5	2153	broad.mit.edu	37	1	169510174	169510174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:169510174G>A	uc001ggg.1	-	12	4299	c.4154C>T	c.(4153-4155)tCc>tTc	p.S1385F		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1385	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGGTCTGGGGAAAGGTTTGT	0.527000														131			33		0	0	0.012213	0	0
OR1S2	219958	broad.mit.edu	37	11	57971493	57971493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:57971493C>T	uc010rkb.2	-	0	161	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGCCCGTTCCCAACCACAGT	0.458000														61			36		0	0	0.003755	0	0
CXCR2	3579	broad.mit.edu	37	2	219000400	219000400	+	Silent	SNP	C	T	T	rs34747313		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:219000400C>T	uc002vgz.2	+	3	1086	c.876C>T	c.(874-876)atC>atT	p.I292I	CXCR2_uc002vha.2_Silent_p.I292I|CXCR2_uc002vhb.2_Silent_p.I292I|CXCR2_uc021vwp.1_Silent_p.I292I	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	292					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCAATCACATCGACCGGGCTC	0.597000														74			26		0	0	0.004656	0	0
TCN1	6947	broad.mit.edu	37	11	59626734	59626734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:59626734C>T	uc001noj.2	-	4	661	c.563G>A	c.(562-564)gGt>gAt	p.G188D		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	188					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCATTGCACCAGTATCTGT	0.448000														52			21		0	0	0.002780	0	0
LRP1	4035	broad.mit.edu	37	12	57570936	57570936	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:57570936C>T	uc001snd.3	+	24	4570	c.4104C>T	c.(4102-4104)atC>atT	p.I1368I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1368					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGATCAGATCGAGGTGGCCA	0.612000														52			9		0	0	0.004482	0	0
MYO3A	53904	broad.mit.edu	37	10	26491913	26491913	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:26491913T>A	uc001isn.2	+	33	4967	c.4607T>A	c.(4606-4608)tTg>tAg	p.L1536*	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1536					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTATTAGATTTGGAAGATTTC	0.343000														23			4		0	0	0.009096	0	0
NETO2	81831	broad.mit.edu	37	16	47117523	47117523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:47117523G>A	uc002eer.2	-	8	1600	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	NETO2_uc002eeq.2_Missense_Mutation_p.P131L|NETO2_uc010vgf.2_Missense_Mutation_p.P389L	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	396						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCATAATGAGGAGGATCAAA	0.423000										HNSCC(25;0.065)				62			16		0	0	0.004990	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166981	180166981	+	Silent	SNP	G	A	A	rs146483228		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:180166981G>A	uc003mmf.1	-	0	78	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACAAACAGGATGGGCTCCA	0.468000														22			8		0	0	0.004482	0	0
LDB2	9079	broad.mit.edu	37	4	16760786	16760786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:16760786C>T	uc003goz.3	-	1	546	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	LDB2_uc003gpa.3_Missense_Mutation_p.R77Q|LDB2_uc011bxh.2_Missense_Mutation_p.R77Q|LDB2_uc003gpb.3_Missense_Mutation_p.R77Q|LDB2_uc010iee.3_Missense_Mutation_p.R77Q	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	77							LIM domain binding|transcription cofactor activity	p.R77*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTTACTGTATCGCTTTGGTCC	0.428000														35			8		0	0	0.003080	0	0
PPARG	5468	broad.mit.edu	37	3	12421299	12421299	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:12421299T>G	uc003bwx.3	+	1	270	c.179T>G	c.(178-180)tTt>tGt	p.F60C	PPARG_uc003bwr.3_Missense_Mutation_p.F32C|PPARG_uc003bws.3_Missense_Mutation_p.F32C|PPARG_uc003bwu.3_Missense_Mutation_p.F32C|PPARG_uc003bwv.3_Missense_Mutation_p.F32C|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.F32C|PPARG_uc003bww.1_Missense_Mutation_p.F60C	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	60					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TCCCACTCCTTTGATATCAAG	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							472			111		0	0	0.014410	0	0
OR8K1	390157	broad.mit.edu	37	11	56113517	56113517	+	Missense_Mutation	SNP	G	A	A	rs146780927		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56113517G>A	uc010rjg.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTACCAAGATGAATCATGTGG	0.358000										HNSCC(65;0.19)				26			10		0	0	0.010729	0	0
AADAC	13	broad.mit.edu	37	3	151545928	151545928	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:151545928C>T	uc003eze.3	+	4	1258	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	390					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACTTATAAATCAGTATATTGA	0.323000														48			5		0	0	0.000602	0	0
ATAD5	79915	broad.mit.edu	37	17	29171041	29171041	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:29171041C>T	uc002hfs.1	+	4	2695	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	ATAD5_uc002hft.1_Silent_p.S681S	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	784					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTAACACATCCACTAAAAATG	0.299000														67			12		0	0	0.013537	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35926016	35926016	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:35926016G>A	uc001byx.3	-	8	1575	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	KIAA0319L_uc010ohv.1_Silent_p.I81I|KIAA0319L_uc010ohw.2_Non-coding_Transcript	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	439	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTACTGAACGATTTTATCAT	0.393000														78			15		0	0	0.003163	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293530	120293530	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:120293530C>T	uc001eid.3	-	9	1509	c.1421_splice	c.e9-1	p.V474_splice	HMGCS2_uc010oxj.2_Splice_Site_p.V432_splice|HMGCS2_uc021osw.1_Splice_Site_p.V240_splice	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	474					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGAGAAATTCACTGTGGAAT	0.498000														148			39		0	0	0.007835	0	0
OR1N2	138882	broad.mit.edu	37	9	125315479	125315479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:125315479G>A	uc011lyx.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGATCACACGAACTACAAGG	0.453000														42			18		0	0	0.004990	0	0
PRSS1	5644	broad.mit.edu	37	7	142459787	142459787	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142459787C>T	uc003wak.2	+	2	380	c.363C>T	c.(361-363)gcC>gcT	p.A121A	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.A61A	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	121	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.A121V(1)|p.A121T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TAATCAACGCCCGCGTGTCCA	0.577000														69			17		0	0	0.004990	0	0
CFHR5	81494	broad.mit.edu	37	1	196965275	196965275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:196965275G>A	uc001gts.4	+	5	1042	c.914G>A	c.(913-915)gGa>gAa	p.G305E		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	305	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCAATGATTGGAAATAACATG	0.363000														60			11		0	0	0.013537	0	0
TINAG	27283	broad.mit.edu	37	6	54254639	54254639	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:54254639G>A	uc003pcj.2	+	10	1493	c.1347G>A	c.(1345-1347)agG>agA	p.R449R	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	449					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTATTTCAGGATTCTTCGAG	0.388000														82			9		0	0	0.008291	0	0
NME8	51314	broad.mit.edu	37	7	37927934	37927934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:37927934G>A	uc003tfn.3	+	14	1675	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	435	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GTATGGCAGCGATTCATTAGA	0.393000														37			11		0	0	0.001855	0	0
SYT3	84258	broad.mit.edu	37	19	51140553	51140553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:51140553C>T	uc002pst.3	-	0	750	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	SYT3_uc002psv.3_Missense_Mutation_p.R39Q|SYT3_uc010ycd.2_Missense_Mutation_p.R39Q|Mir_324_uc021uye.1_5'Flank	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	39						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCTCGGATTCGGTCATTGAA	0.632000														107			24		0	0	0.004656	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552966	140552966	+	Missense_Mutation	SNP	G	A	A	rs146757937		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140552966G>A	uc003lit.3	+	0	724	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGTCCATGATAGCGGGGA	0.478000														39			10		0	0	0.006214	0	0
EXOC4	60412	broad.mit.edu	37	7	133059705	133059705	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:133059705C>T	uc003vrk.3	+	6	1166	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	EXOC4_uc011kpo.2_Silent_p.I276I|EXOC4_uc003vri.3_Silent_p.I377I|EXOC4_uc003vrj.3_Silent_p.I377I	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	377					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGGAAGATATCAAACTGTATG	0.438000														44			5		0	0	0.000602	0	0
RNF216	54476	broad.mit.edu	37	7	5680976	5680976	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:5680976T>A	uc003sox.2	-	14	2450	c.2191A>T	c.(2191-2193)Aaa>Taa	p.K731*	RNF216_uc010ksz.2_Nonsense_Mutation_p.K296*|RNF216_uc010kta.2_Nonsense_Mutation_p.K296*|RNF216_uc003soy.2_Nonsense_Mutation_p.K674*|RNF216_uc011jwj.2_Nonsense_Mutation_p.K296*	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	674					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTGTGGCATTTTCTAATGCGG	0.458000														40			7		0	0	0.003080	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58256196	58256196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:58256196G>A	uc002aex.3	-	8	1246	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R304C|ALDH1A2_uc002aey.3_Missense_Mutation_p.R287C|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R296C|ALDH1A2_uc002aew.3_Missense_Mutation_p.R229C	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	325					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACGAAGATGCGAGAGCCTGCA	0.562000														46			15		0	0	0.003163	0	0
NLRP7	199713	broad.mit.edu	37	19	55450331	55450331	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55450331T>G	uc002qih.4	-	3	1932	c.1856A>C	c.(1855-1857)aAa>aCa	p.K619T	NLRP7_uc010esk.3_Missense_Mutation_p.K619T|NLRP7_uc002qig.4_Missense_Mutation_p.K619T|NLRP7_uc002qii.4_Missense_Mutation_p.K619T|NLRP7_uc010esl.3_Missense_Mutation_p.K647T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	619							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)		CAGTGAGAGTTTCTGCAAGTC	0.443000														51			4		0	0	0.009096	0	0
PAK7	57144	broad.mit.edu	37	20	9520198	9520198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:9520198C>T	uc002wnl.2	-	10	2616	c.2071G>A	c.(2071-2073)Gcc>Acc	p.A691T	PAK7_uc002wnk.2_Missense_Mutation_p.A691T|PAK7_uc002wnj.2_Missense_Mutation_p.A691T|PAK7_uc010gby.1_Missense_Mutation_p.A604T	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	691	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)			AGTTCCTGGGCTGTTGCTCTC	0.507000														156			29		0	0	0.006320	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55363708	55363708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55363708C>T	uc002qho.4	+	2	359	c.326C>T	c.(325-327)cCc>cTc	p.P109L	KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc002qhn.1_Intron|KIR3DL2_uc010esh.3_Missense_Mutation_p.P109L	NM_006737	NP_006728	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 (KIR3DL2), transcript variant 1, mRNA.	109					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)		TGGTCGGCACCCAGCAACCCC	0.607000														100			24		0	0	0.004656	0	0
COL11A2	1302	broad.mit.edu	37	6	33156203	33156203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:33156203G>A	uc003ocx.1	-	3	770	c.542C>T	c.(541-543)cCa>cTa	p.P181L	COL11A2_uc003ocy.1_Missense_Mutation_p.P181L|COL11A2_uc003ocz.1_Missense_Mutation_p.P181L|COL11A2_uc003oda.3_Missense_Mutation_p.P181L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	181	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCAATACTGGACGAGCACT	0.547000														65			21		0	0	0.010504	0	0
CHD9	80205	broad.mit.edu	37	16	53283919	53283919	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:53283919A>T	uc002ehb.3	+	15	3966	c.3802A>T	c.(3802-3804)Act>Tct	p.T1268S	CHD9_uc002egy.3_Missense_Mutation_p.T1268S|CHD9_uc002ehc.3_Missense_Mutation_p.T1268S|CHD9_uc002ehf.3_Missense_Mutation_p.T382S|CHD9_uc002ehg.2_Missense_Mutation_p.T382S|CHD9_uc002ehd.2_Missense_Mutation_p.T794S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1268	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATCAACTTAACTGCAGCTGA	0.353000														83			18		0	0	0.010504	0	0
SH2B2	10603	broad.mit.edu	37	7	101957774	101957774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:101957774C>T	uc011kko.2	+	5	1220	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	436					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GCAGGGGGGCCCCGGAACCAC	0.627000														27			4		0	0	0.009096	0	0
C1orf194	127003	broad.mit.edu	37	1	109650610	109650610	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:109650610C>T	uc009wev.3	-	1	199	c.131G>A	c.(130-132)tGg>tAg	p.W44*	C1orf194_uc001dwp.4_Intron|C1orf194_uc009wew.3_Nonsense_Mutation_p.W32*	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	44										large_intestine(2)|lung(2)|ovary(2)	6						GAGCCGACTCCAGGGTTCCTG	0.473000														141			34		0	0	0.003755	0	0
UNC79	57578	broad.mit.edu	37	14	94044256	94044256	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:94044256C>T	uc001ybv.1	+	14	1832	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	UNC79_uc001ybs.1_Silent_p.F583F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	760						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATAGTCCTTTCCAGAGTCCGT	0.453000														150			40		0	0	0.010771	0	0
MYOF	26509	broad.mit.edu	37	10	95107489	95107489	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:95107489G>A	uc001kin.3	-	36	4257	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I	MYOF_uc001kio.3_Silent_p.I1365I|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1378					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCTGTGGTCGATGACCTTGA	0.572000														37			15		0	0	0.003163	0	0
ZNF831	128611	broad.mit.edu	37	20	57766789	57766789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:57766789G>A	uc002yan.3	+	0	715	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	239						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGATGCACGAAGGCGCCTC	0.701000														60			14		0	0	0.004007	0	0
CD55	1604	broad.mit.edu	37	1	207499049	207499049	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:207499049C>T	uc001hfq.4	+	3	855	c.561C>T	c.(559-561)tcC>tcT	p.S187S	CD55_uc001hfr.4_Silent_p.S187S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Silent_p.S123S|CD55_uc009xce.3_Silent_p.S187S	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	187	Sushi 3.			S -> T (in Ref. 9; AAB48622).	complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CAACCATCTCCTTCTCATGTA	0.373000														41			10		0	0	0.010729	0	0
NLRC5	84166	broad.mit.edu	37	16	57056215	57056215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:57056215C>T	uc021tiu.1	+	2	470	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	NLRC5_uc021tit.1_Nonsense_Mutation_p.Q115*|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	115					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTGAATCTCAGCTCCACCA	0.602000														19			4		0	0	0.009096	0	0
CHCHD8	51287	broad.mit.edu	37	11	73584408	73584408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:73584408G>A	uc021qne.1	-	0	16	c.16C>T	c.(16-18)Cct>Tct	p.P6S	CHCHD8_uc001ouj.3_Missense_Mutation_p.P6S	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 8 (CHCHD8), mRNA.	6										lung(2)	2	Breast(11;7.42e-05)					TGGCCTTGAGGGACTGAGGTT	0.502000														77			9		0	0	0.006214	0	0
FAM13C	220965	broad.mit.edu	37	10	61014154	61014154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61014154C>T	uc010qif.1	-	10	1418	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K	FAM13C_uc010qid.2_Missense_Mutation_p.R346K|FAM13C_uc001jkn.3_Missense_Mutation_p.R429K|FAM13C_uc001jko.3_Missense_Mutation_p.R331K|FAM13C_uc010qie.2_Missense_Mutation_p.R346K|FAM13C_uc001jkp.3_Missense_Mutation_p.R346K	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	429										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGATAATTCTGTATCGGTC	0.353000														95			28		0	0	0.012213	0	0
ODZ3	55714	broad.mit.edu	37	4	183651352	183651352	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:183651352G>A	uc003ivd.1	+	14	2661	c.2586_splice	c.e14-1	p.S862_splice	ODZ3_uc003ive.1_Splice_Site_p.S268_splice	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	862					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)		TTTTCCAACAGCCTTGCATCT	0.373000														62			15		0	0	0.003163	0	0
LRP2	4036	broad.mit.edu	37	2	170002290	170002290	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:170002290G>A	uc002ues.3	-	69	13168	c.12955C>T	c.(12955-12957)Cga>Tga	p.R4319*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4319					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R4319Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGAAAGATTCGAACTTGAGTG	0.363000														51			7		0	0	0.003080	0	0
STK11IP	114790	broad.mit.edu	37	2	220471783	220471783	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:220471783C>T	uc002vml.3	+	12	1219	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	STK11IP_uc010zll.2_Silent_p.V349V|STK11IP_uc002vmm.1_Silent_p.V381V	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	392					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCCGAGTCCGTGTGAGGC	0.577000														35			9		0	0	0.008291	0	0
ALMS1	7840	broad.mit.edu	37	2	73716847	73716847	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:73716847C>T	uc002sje.1	+	9	7869	c.7758C>T	c.(7756-7758)ttC>ttT	p.F2586F	ALMS1_uc002sjf.1_Silent_p.F2544F|ALMS1_uc002sjg.3_Silent_p.F1974F|ALMS1_uc002sjh.1_Silent_p.F1974F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2586					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGGGATGTTTCCGGACTCTAA	0.458000														71			17		0	0	0.004007	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428491	170428491	+	Missense_Mutation	SNP	G	A	A	rs150394417		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:170428491G>A	uc002uev.4	-	1	437	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.R3C|FASTKD1_uc002uey.2_Missense_Mutation_p.R3C	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	17					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GCTCTTAGACGAAGCATATTT	0.363000														41			4		0	0	0.009096	0	0
TP63	8626	broad.mit.edu	37	3	189612176	189612176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:189612176G>A	uc003fry.2	+	13	2017	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.R549Q|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.R464Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	643	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATGCTGTGCGATTCACCCTC	0.552000										HNSCC(45;0.13)				79			15		0	0	0.004007	0	0
UNC79	57578	broad.mit.edu	37	14	94041415	94041415	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:94041415G>A	uc001ybv.1	+	13	1634	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	UNC79_uc001ybs.1_Silent_p.E517E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	694						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATTATCGGAGTTAGATATCA	0.323000														21			7		0	0	0.003080	0	0
OR9G4	283189	broad.mit.edu	37	11	56510651	56510651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56510651C>T	uc010rjo.2	-	0	637	c.637G>A	c.(637-639)Gtc>Atc	p.V213I		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAGCAGGACTTTTTCGTAG	0.453000														41			8		0	0	0.003080	0	0
CCDC116	164592	broad.mit.edu	37	22	21988630	21988630	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:21988630G>C	uc002zve.3	+	2	485	c.392G>C	c.(391-393)aGc>aCc	p.S131T	CCDC116_uc011aih.1_Missense_Mutation_p.S131T	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	131										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCAGCCTCAGCACCGTACAC	0.657000														84			14		0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9082689	9082689	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9082689G>A	uc002mkp.3	-	0	9330	c.9126C>T	c.(9124-9126)ttC>ttT	p.F3042F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3043	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						TGGGGGAAAGGAAGCTTGTTT	0.483000														67			25		0	0	0.003330	0	0
CSMD2	114784	broad.mit.edu	37	1	34285407	34285407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:34285407C>T	uc001bxm.1	-	8	1408	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	CSMD2_uc001bxn.1_Missense_Mutation_p.E371K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	371	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCATAGCCCTCGTTGCAGGTG	0.607000														43			4		0	0	0.000602	0	0
CUL9	23113	broad.mit.edu	37	6	43164422	43164422	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:43164422C>T	uc003ouk.3	+	10	2700	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N	CUL9_uc003oul.3_Silent_p.N875N|CUL9_uc010jyk.3_Silent_p.N27N	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	875					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCCTGCTCAACCTACTTTTGT	0.502000														87			25		0	0	0.003954	0	0
MUC2	4583	broad.mit.edu	37	11	1093904	1093904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:1093904C>T	uc001lsx.1	+	31	5738	c.5711C>T	c.(5710-5712)cCa>cTa	p.P1904L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1980						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)	ACACTGTCTCCACCGCCCAGC	0.647000														51			5		0	0	0.000602	0	0
SEZ6	124925	broad.mit.edu	37	17	27308743	27308743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:27308743G>A	uc002hdp.2	-	1	564	c.370C>T	c.(370-372)Cca>Tca	p.P124S	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P124S|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.P124S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	124	Pro-rich.					integral to membrane|plasma membrane		p.T123I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCATGGCTGGAGTGGGGCTG	0.647000														37			6		0	0	0.001984	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458979	45458979	+	RNA	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:45458979C>T	uc001rol.3	-	0		c.216G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCTTGTATTTCCCCAGCTCAT	0.433000														14			4		0	0	0.000602	0	0
DHX16	8449	broad.mit.edu	37	6	30632959	30632959	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:30632959G>A	uc003nqz.3	-	5	1226	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	DHX16_uc011dmo.2_Silent_p.S278S	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	338					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CAAACTTCAGGGACGCTGCCC	0.642000														28			4		0	0	0.000602	0	0
C12orf51	283450	broad.mit.edu	37	12	112699194	112699194	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:112699194G>A	uc021reb.1	-	17	2752	c.2356C>T	c.(2356-2358)Ctg>Ttg	p.L786L	C12orf51_uc010syk.1_Silent_p.L321L|C12orf51_uc001tts.2_Silent_p.L321L|C12orf51_uc001ttt.3_Silent_p.L319L	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CATCCAGTCAGGATTTGGGTG	0.413000														69			21		0	0	0.003330	0	0
ST18	9705	broad.mit.edu	37	8	53077726	53077726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:53077726G>A	uc003xqz.2	-	6	1420	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	ST18_uc011ldq.1_Missense_Mutation_p.H69Y|ST18_uc011ldr.1_Missense_Mutation_p.H387Y|ST18_uc011lds.1_Missense_Mutation_p.H327Y|ST18_uc003xra.2_Missense_Mutation_p.H422Y|ST18_uc003xrb.2_Missense_Mutation_p.H422Y	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	422						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTTCACATGACCCCTTCCT	0.403000														177			42		0	0	0.011902	0	0
PVRL4	81607	broad.mit.edu	37	1	161043552	161043552	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:161043552G>A	uc001fxo.2	-	6	1490	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	PVRL4_uc010pjy.1_Silent_p.S76S|PVRL4_uc010pjz.1_Silent_p.S131S	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	397					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCTCCGGATGGAGTTCTCCC	0.607000														51			13		0	0	0.004007	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256508	32256508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:32256508C>T	uc001bts.1	-	15	3405	c.3347G>A	c.(3346-3348)gGc>gAc	p.G1116D	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Missense_Mutation_p.G1103D|SPOCD1_uc001btv.3_Missense_Mutation_p.G596D	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	1116					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGCGCAAGCCTGGCTCTGG	0.652000														10			4		0	0	0.009096	0	0
TRIM46	80128	broad.mit.edu	37	1	155156563	155156563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:155156563C>T	uc001fhs.1	+	9	2260	c.2177C>T	c.(2176-2178)cCt>cTt	p.P726L	TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.P600L|TRIM46_uc001fhu.1_Missense_Mutation_p.P703L|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	726	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGTGTGCCCTGCCTTTTGC	0.617000														35			4		0	0	0.009096	0	0
RAB31	11031	broad.mit.edu	37	18	9859235	9859235	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:9859235C>T	uc002kog.2	+	6	676	c.501C>T	c.(499-501)atC>atT	p.I167I		NM_006868	NP_006859	Q13636	RAB31_HUMAN	Homo sapiens RAB31, member RAS oncogene family (RAB31), mRNA.	166					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						GCCGCCAGATCCCACCCTTGG	0.537000														24			4		0	0	0.009096	0	0
ALMS1	7840	broad.mit.edu	37	2	73677820	73677820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:73677820G>A	uc002sje.1	+	7	4274	c.4163G>A	c.(4162-4164)aGt>aAt	p.S1388N	ALMS1_uc002sjf.1_Missense_Mutation_p.S1346N|ALMS1_uc002sjg.3_Missense_Mutation_p.S776N|ALMS1_uc002sjh.1_Missense_Mutation_p.S776N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1388	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGAAGCCGAGTATTTTCTAC	0.478000														80			22		0	0	0.014323	0	0
CASC1	55259	broad.mit.edu	37	12	25267700	25267700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:25267700C>T	uc001rgk.3	-	12	1583	c.1501G>A	c.(1501-1503)Gat>Aat	p.D501N	CASC1_uc001rgj.3_Missense_Mutation_p.D455N|CASC1_uc001rgm.4_Missense_Mutation_p.D559N|CASC1_uc001rgl.3_Missense_Mutation_p.D495N|CASC1_uc010sje.2_Missense_Mutation_p.D436N|CASC1_uc010sjf.2_Missense_Mutation_p.D383N|CASC1_uc010sjg.1_3'UTR	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	495										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATATGAGCATCTTGAATCAAG	0.383000														50			10		0	0	0.006214	0	0
HHLA2	11148	broad.mit.edu	37	3	108073967	108073967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:108073967C>T	uc003dwz.3	+	4	838	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	HHLA2_uc011bhl.2_Missense_Mutation_p.L78F|HHLA2_uc010hpu.3_Missense_Mutation_p.L142F|HHLA2_uc003dwy.4_Missense_Mutation_p.L142F	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	142	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGTAGTTTTTCTCACACCCGT	0.383000														18			12		0	0	0.001855	0	0
LGALS2	3957	broad.mit.edu	37	22	37966596	37966596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:37966596C>T	uc003ata.3	-	2	348	c.236G>A	c.(235-237)gGg>gAg	p.G79E		NM_006498	NP_006489	P05162	LEG2_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA.	79	Galectin.							p.P78T(2)|p.P78Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					GACCTCTGACCCTGGGCTGAA	0.587000														126			36		0	0	0.006999	0	0
SCN1A	6323	broad.mit.edu	37	2	166905438	166905438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:166905438C>T	uc002udo.4	-	8	1213	c.986G>A	c.(985-987)gGt>gAt	p.G329D	SCN1A_uc010fpk.3_Missense_Mutation_p.G329D|SCN1A_uc021vsb.1_Missense_Mutation_p.G329D	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	329						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATCTAAAAAACCCTCCAGGAA	0.338000														32			8		0	0	0.004482	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420919	55420919	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:55420919G>A	uc001sgp.4	+	1	1074	c.696G>A	c.(694-696)ttG>ttA	p.L232L	NEUROD4_uc021qyr.1_Silent_p.L232L	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	232					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAAGAGTTTGGGAGAATCGT	0.517000														56			11		0	0	0.013537	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454657	234454657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:234454657G>A	uc001hvy.1	+	5	1260	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	SLC35F3_uc001hwa.1_Missense_Mutation_p.G303E	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	303					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			ATTCCATGGGGAAACCTTTGT	0.423000														123			11		0	0	0.008291	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678318	66678318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:66678318G>A	uc002lkk.2	+	8	1634	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R	CCDC102B_uc002lki.2_Missense_Mutation_p.G471R	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	471										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACTAAAGCAGGGACTCAATCA	0.383000														32			4		0	0	0.009096	0	0
INPPL1	3636	broad.mit.edu	37	11	71948480	71948480	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:71948480C>T	uc001osf.3	+	25	3339	c.3192C>T	c.(3190-3192)ttC>ttT	p.F1064F	INPPL1_uc001osg.3_Silent_p.F822F	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1064	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCCATCTTCCTGCCCCCCA	0.662000														61			18		0	0	0.010504	0	0
DSC3	1825	broad.mit.edu	37	18	28602306	28602306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:28602306C>T	uc002kwj.4	-	6	1093	c.938G>A	c.(937-939)aGa>aAa	p.R313K	DSC3_uc002kwi.4_Missense_Mutation_p.R313K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	313	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGCTACCTCTCTGTCCAAATA	0.433000														91			11		0	0	0.013537	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166389	161166389	+	Silent	SNP	C	T	T	rs150760814		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:161166389C>T	uc001fyt.4	-	1	1343	c.915G>A	c.(913-915)tcG>tcA	p.S305S	ADAMTS4_uc001fyu.2_Silent_p.S305S|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	305	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTCAGGGTCCGAGTCCTCAG	0.637000														72			10		0	0	0.013537	0	0
ADH1B	125	broad.mit.edu	37	4	100235103	100235103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:100235103C>T	uc003hus.4	-	5	787	c.703G>A	c.(703-705)Gag>Aag	p.E235K	ADH1B_uc003hut.4_Missense_Mutation_p.E195K|ADH1B_uc011ceh.2_Missense_Mutation_p.E80K|ADH1B_uc011cei.1_Missense_Mutation_p.E195K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	235				E -> V (in Ref. 13; AAA51592).	ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.K234K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCACCCAACTCTTTGGCCTTT	0.483000														271			62		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745293	140745293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140745293C>T	uc003lju.2	+	0	1396	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.P466S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	468	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAACAATCCCAGAGGTGT	0.532000														125			32		0	0	0.009535	0	0
MAK16	84549	broad.mit.edu	37	8	33342733	33342733	+	Silent	SNP	G	A	A	rs147879677		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:33342733G>A	uc003xjj.3	+	0	49	c.9G>A	c.(7-9)tcG>tcA	p.S3S	TTI2_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA.	3						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CCATGCAGTCGGATGATGTGA	0.597000														79			24		0	0	0.007291	0	0
IQUB	154865	broad.mit.edu	37	7	123097526	123097526	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:123097526C>T	uc003vkn.3	-	11	2679	c.2102G>A	c.(2101-2103)tGg>tAg	p.W701*	IQUB_uc011kny.2_Nonsense_Mutation_p.W34*|IQUB_uc003vko.3_Nonsense_Mutation_p.W701*|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	701										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGATTTATTCCATCTGACCAT	0.473000														117			18		0	0	0.010504	0	0
PRRC2C	23215	broad.mit.edu	37	1	171544202	171544202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:171544202C>T	uc010pmg.2	+	24	7150	c.6884C>T	c.(6883-6885)tCg>tTg	p.S2295L	PRRC2C_uc010pmh.2_Missense_Mutation_p.S1207L|PRRC2C_uc010pmi.2_Missense_Mutation_p.S132L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2295							protein C-terminus binding										AATTACAATTCGTTCTCAAGT	0.443000														24			5		0	0	0.000602	0	0
NR5A2	2494	broad.mit.edu	37	1	200017919	200017919	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:200017919G>A	uc001gvb.3	+	4	1289	c.1083G>A	c.(1081-1083)agG>agA	p.R361R	NR5A2_uc001gvc.3_Silent_p.R315R|NR5A2_uc009wzh.3_Silent_p.R321R|NR5A2_uc010pph.2_Silent_p.R289R	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	361	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGTGGGCCAGGAGTAGTATCT	0.433000														99			26		0	0	0.010818	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284435	47284435	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:47284435G>A	uc001cqn.4	+	11	1572	c.1488G>A	c.(1486-1488)aaG>aaA	p.K496K	CYP4B1_uc001cqm.4_Silent_p.K495K|CYP4B1_uc009vym.3_Silent_p.K481K|CYP4B1_uc010omk.2_Silent_p.K332K	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	495					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGCGCTCCAAGAATGGCTTTC	0.592000														80			25		0	0	0.003954	0	0
SFMBT2	57713	broad.mit.edu	37	10	7213004	7213004	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:7213004C>T	uc009xio.2	-	19	2521	c.2430G>A	c.(2428-2430)gaG>gaA	p.E810E	SFMBT2_uc001ijn.2_Silent_p.E810E|SFMBT2_uc010qay.2_Silent_p.E645E	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	810					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCTCCTCCTCCTCCTGTTTCG	0.612000														87			24		0	0	0.003954	0	0
ARID2	196528	broad.mit.edu	37	12	46230613	46230613	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:46230613C>T	uc001ros.1	+	7	862	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q288*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	288					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L287I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCGGGTACTTCAGATTGCAGT	0.418000			"""N, S, F"""		hepatocellular carcinoma									60			14		0	0	0.002450	0	0
HTR1E	3354	broad.mit.edu	37	6	87725844	87725844	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:87725844G>A	uc003pli.3	+	1	1495	c.792G>A	c.(790-792)agG>agA	p.R264R	HTR1E_uc021zcg.1_Silent_p.R264R	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	264					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.I263V(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCTCCATCAGGATCCCCCCCT	0.502000														112			12		0	0	0.013537	0	0
GABRE	2564	broad.mit.edu	37	X	151128324	151128324	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:151128324G>A	uc004ffi.3	-	5	825	c.771C>T	c.(769-771)atC>atT	p.I257I	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	257					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGTTGTGATTATTTCAG	0.453000														17			17		0	0	0.007413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347637	140347637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140347637G>A	uc003lii.3	+	0	1891	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.R429Q	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R429R(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)			CCACTGGACCGAGAGCGGGTG	0.572000														97			22		0	0	0.002780	0	0
C1orf173	127254	broad.mit.edu	37	1	75039065	75039065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:75039065C>T	uc001dgg.3	-	13	2548	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	777	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						GCTTCATCTTCCTCCATTGCT	0.488000														94			16		0	0	0.004990	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769837	112769837	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:112769837T>C	uc003kqm.2	-	0	892	c.700A>G	c.(700-702)Aac>Gac	p.N234D	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	234	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CGTGGGAAGTTGACGCGGTGC	0.587000														48			15		0	0	0.003163	0	0
MYH14	79784	broad.mit.edu	37	19	50796837	50796837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50796837G>A	uc010enu.1	+	38	5409	c.5362G>A	c.(5362-5364)Gag>Aag	p.E1788K	MYH14_uc002prq.1_Missense_Mutation_p.E1755K|MYH14_uc002prr.1_Missense_Mutation_p.E1747K|MYH14_uc010ycb.2_Missense_Mutation_p.E98K|MYH14_uc002prs.1_Missense_Mutation_p.E98K	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1747					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CATTCTGGAGGAGAAGCGTCA	0.612000														23			11		0	0	0.013537	0	0
SARDH	1757	broad.mit.edu	37	9	136550345	136550345	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:136550345G>A	uc004cep.4	-	16	2267	c.2133C>T	c.(2131-2133)acC>acT	p.T711T	SARDH_uc004ceo.3_Silent_p.T711T|SARDH_uc011mdo.2_Silent_p.T543T|SARDH_uc011mdn.2_Silent_p.T711T|SARDH_uc004cen.3_Silent_p.T139T	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	711					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTAGCTTGTGGGTGGAGAACG	0.637000														36			8		0	0	0.006214	0	0
PHTF2	57157	broad.mit.edu	37	7	77549657	77549657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:77549657C>T	uc003ugs.4	+	8	964	c.838C>T	c.(838-840)Ctt>Ttt	p.L280F	PHTF2_uc003ugo.4_Missense_Mutation_p.L242F|PHTF2_uc003ugp.3_Missense_Mutation_p.L242F|PHTF2_uc010ldv.3_Missense_Mutation_p.L242F|PHTF2_uc003ugq.4_Missense_Mutation_p.L242F|PHTF2_uc003ugr.4_Missense_Mutation_p.L246F|PHTF2_uc003ugt.4_Missense_Mutation_p.L246F|PHTF2_uc003ugu.4_Missense_Mutation_p.L242F|PHTF2_uc022agp.1_Missense_Mutation_p.L280F|PHTF2_uc003ugv.3_Missense_Mutation_p.L105F|PHTF2_uc010ldw.2_Missense_Mutation_p.L105F	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CTATGTATCCCTTGATGGGAA	0.373000														30			5		0	0	0.001984	0	0
ITGB4	3691	broad.mit.edu	37	17	73732427	73732427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:73732427C>T	uc002jpg.3	+	14	2007	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	ITGB4_uc002jph.3_Missense_Mutation_p.S607L|ITGB4_uc010dgo.3_Missense_Mutation_p.S607L|ITGB4_uc002jpi.4_Missense_Mutation_p.S607L|ITGB4_uc010dgp.1_Missense_Mutation_p.S607L|ITGB4_uc002jpj.3_Missense_Mutation_p.S607L|ITGB4_uc010wsh.1_Missense_Mutation_p.S162L	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	607	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCAGCAGTCGCTCTACACG	0.637000														65			13		0	0	0.004007	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714678	65714678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:65714678C>T	uc001ogk.1	+	3	411	c.379C>T	c.(379-381)Cca>Tca	p.P127S	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	128										endometrium(2)|kidney(3)|lung(9)	14						GCCAAGCTCCCCAACCCCTGG	0.652000														13			3		0	0	0.004672	0	0
POC1A	25886	broad.mit.edu	37	3	52183354	52183354	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:52183354G>A	uc003dcu.3	-	3	645	c.327C>T	c.(325-327)gtC>gtT	p.V109V	POC1A_uc003dcv.3_Silent_p.V71V|POC1A_uc003dcw.3_Silent_p.V109V	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	109						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TGCAGAAGTGGACACTCCTCA	0.517000														51			13		0	0	0.001855	0	0
CC2D1A	54862	broad.mit.edu	37	19	14028885	14028885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:14028885C>T	uc002mxo.2	+	6	1050	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	CC2D1A_uc002mxn.2_Missense_Mutation_p.P150S|CC2D1A_uc002mxp.2_Missense_Mutation_p.P251S|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'Flank	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	251	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTTCCAGGTCCCTGCAGCCC	0.537000														47			5		0	0	0.001168	0	0
PRR23B	389151	broad.mit.edu	37	3	138738753	138738754	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:138738753_138738754GG>AA	uc003esy.1	-	0	1015_1016	c.750_751CC>TT	c.(748-753)ctcccg>ctTTcg	p.P251S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCGTTCCGGGAGCGGCGAGC	0.673000														38			8		0	0	0.004672	0	0
FSHR	2492	broad.mit.edu	37	2	49217773	49217773	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:49217773T>C	uc002rww.3	-	4	488	c.378A>G	c.(376-378)ttA>ttG	p.L126L	FSHR_uc010fbn.3_Silent_p.L126L|FSHR_uc002rwx.3_Silent_p.L126L|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	126					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGTTGGATATTAACCTAGAGA	0.333000									Gonadal Dysgenesis, 46 XX					53			11		0	0	0.010729	0	0
TXNDC11	51061	broad.mit.edu	37	16	11792183	11792183	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:11792183T>A	uc010buu.1	-	8	1050	c.988_splice	c.e8-1	p.V330_splice	TXNDC11_uc002dbg.1_Splice_Site_p.V303_splice	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	330					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGGAAGACCTGTGAAGGACA	0.547000														32			11		0	0	0.008291	0	0
MYBPC1	4604	broad.mit.edu	37	12	102041880	102041880	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:102041880G>C	uc001tii.3	+	11	1213	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	MYBPC1_uc001tif.2_Missense_Mutation_p.R371T|MYBPC1_uc001tig.3_Missense_Mutation_p.R383T|MYBPC1_uc010svr.2_Missense_Mutation_p.R358T|MYBPC1_uc010svs.2_Missense_Mutation_p.R358T|MYBPC1_uc001tij.3_Missense_Mutation_p.R358T|MYBPC1_uc010svt.2_Missense_Mutation_p.R346T|MYBPC1_uc010svu.2_Missense_Mutation_p.R339T|MYBPC1_uc001tik.3_Missense_Mutation_p.R332T|MYBPC1_uc001tih.3_Missense_Mutation_p.R383T|MYBPC1_uc010svq.2_Missense_Mutation_p.R345T	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	358	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGTGGGGAGAGAGTGGAATTA	0.363000														52			12		0	0	0.002450	0	0
SELPLG	6404	broad.mit.edu	37	12	109017969	109017969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:109017969C>T	uc010sxe.2	-	1	340	c.163G>A	c.(163-165)Gac>Aac	p.D55N	SELPLG_uc001tni.3_Missense_Mutation_p.D39N|SELPLG_uc021rdm.1_Missense_Mutation_p.D39N|SELPLG_uc001tnh.3_Missense_Mutation_p.D39N	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	39					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGTCTCCGGTCCCGGGCAAGC	0.572000														53			13		0	0	0.003163	0	0
SCAND3	114821	broad.mit.edu	37	6	28554392	28554392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:28554392C>T	uc003nlo.3	-	0	721	c.103G>A	c.(103-105)Gat>Aat	p.D35N	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	35					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.W34L(1)		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						GATTCCTGATCCCAAGTGTGG	0.517000														53			15		0	0	0.002450	0	0
C11orf48	79081	broad.mit.edu	37	11	62435109	62435109	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62435109T>A	uc001nuf.3	-	3	640	c.424A>T	c.(424-426)Aca>Tca	p.T142S	METTL12_uc001nuh.3_3'UTR|C11orf48_uc010rmd.1_Missense_Mutation_p.T142S	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	Homo sapiens chromosome 11 open reading frame 48 (C11orf48), mRNA.	168										endometrium(1)|lung(5)|urinary_tract(1)	7						AGACATGCTGTGTCCTCAAGA	0.522000														233			109		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179596537	179596537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179596537C>T	uc021vsy.1	-	54	13558	c.13333G>A	c.(13333-13335)Gat>Aat	p.D4445N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1106N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5372	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGATGATCCTGAATGAAA	0.502000														110			17		0	0	0.007413	0	0
F2RL1	2150	broad.mit.edu	37	5	76129513	76129513	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:76129513T>A	uc003keo.3	+	1	1256	c.1081T>A	c.(1081-1083)Tgc>Agc	p.C361S		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	361					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGCTCTCCTTTGCCGAAGTGT	0.458000														419			90		0	0	0.014410	0	0
WDPCP	51057	broad.mit.edu	37	2	63660906	63660906	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:63660906G>A	uc002sch.3	-	8	1260	c.798C>T	c.(796-798)ctC>ctT	p.L266L	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Silent_p.L107L|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Silent_p.L74L|WDPCP_uc002sci.2_Silent_p.L242L|WDPCP_uc010fcr.1_Silent_p.L156L	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	266					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CATAACCCAGGAGGAGTAGAT	0.383000														39			6		0	0	0.001984	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:35826156C>T	uc010mlc.2	-	1	288	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.M1I	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			10		0	0	0.013537	0	0
CHGB	1114	broad.mit.edu	37	20	5903702	5903702	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:5903702G>A	uc002wmg.3	+	3	1218	c.912G>A	c.(910-912)aaG>aaA	p.K304K	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	304						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTGAGGAAAAGGGACACCCCC	0.587000														12			8		0	0	0.003080	0	0
FAM40B	57464	broad.mit.edu	37	7	129091522	129091522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:129091522C>T	uc011koy.2	+	3	383	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	FAM40B_uc003vow.3_Missense_Mutation_p.R115W	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	115										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCTTGGACCGGCTAGAGGT	0.552000														57			13		0	0	0.013537	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372117	81372117	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:81372117G>A	uc009xry.3	+	3	349	c.267G>A	c.(265-267)ggG>ggA	p.G89G	SFTPA1_uc001kap.3_Silent_p.G74G|SFTPA1_uc001kar.3_Silent_p.G74G|SFTPA1_uc001kaq.3_Silent_p.G74G|SFTPA1_uc001kao.3_Intron|SFTPA1_uc021puu.1_Intron|SFTPA1_uc010qlt.2_Silent_p.G15G|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	74	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GAAATGATGGGCTGCCTGGAG	0.607000														171			46		0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38939119	38939119	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:38939119A>G	uc002oit.3	+	9	1055	c.925A>G	c.(925-927)Aag>Gag	p.K309E	RYR1_uc002oiu.3_Missense_Mutation_p.K309E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	309	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTCACACCAAGGCTACCTC	0.652000														115			29		0	0	0.012213	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314718	107314718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:107314718G>A	uc003vep.3	+	4	749	c.525G>A	c.(523-525)atG>atA	p.M175I	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	175					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.M175I(2)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATACTACTATGATAGACACTG	0.433000									Pendred syndrome					76			16		0	0	0.006122	0	0
UTRN	7402	broad.mit.edu	37	6	144844169	144844170	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:144844169_144844170GG>AA	uc003qkt.3	+	39	5843_5844	c.5751_5752GG>AA	c.(5749-5754)ctggac>ctAAac	p.D1918N		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1918					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGACCAACTGGACAAACTTGG	0.356000														30			8		0	0	0.004672	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368845	86368845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:86368845G>A	uc001vll.1	-	1	2258	c.1799C>T	c.(1798-1800)tCt>tTt	p.S600F	SLITRK6_uc021rla.1_Missense_Mutation_p.S600F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	600						integral to membrane		p.R599*(1)		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)		GTCCGTAAGAGATCGTAAAAT	0.418000														53			12		0	0	0.001855	0	0
ST18	9705	broad.mit.edu	37	8	53038684	53038684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:53038684G>A	uc003xqz.2	-	17	2839	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	ST18_uc011ldq.1_Missense_Mutation_p.L542F|ST18_uc011ldr.1_Missense_Mutation_p.L860F|ST18_uc011lds.1_Missense_Mutation_p.L800F|ST18_uc003xra.2_Missense_Mutation_p.L895F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	895						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGCATTGAGAGGACATCCA	0.363000														51			6		0	0	0.001168	0	0
OR2G3	81469	broad.mit.edu	37	1	247769773	247769773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:247769773G>A	uc010pyz.2	+	0	886	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGAACAAGGATATGAAAGA	0.418000														63			13		0	0	0.001855	0	0
TEX15	56154	broad.mit.edu	37	8	30706271	30706271	+	Missense_Mutation	SNP	G	A	A	rs146070106		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:30706271G>A	uc003xil.3	-	0	263	c.263C>T	c.(262-264)tCg>tTg	p.S88L	TEX15_uc011lbc.2_Missense_Mutation_p.S475L	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	88										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGGTGTCGATTTTATTTC	0.383000														34			5		0	0	0.001168	0	0
RP1L1	94137	broad.mit.edu	37	8	10468112	10468112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:10468112C>T	uc003wtc.3	-	3	3725	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1166					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCAGCTGGTCTTCCCCAACG	0.602000														44			13		0	0	0.001855	0	0
C12orf63	374467	broad.mit.edu	37	12	97043723	97043723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:97043723C>T	uc021rcc.1	+	1	98	c.20C>T	c.(19-21)tCc>tTc	p.S7F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	7										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GAAAATATGTCCAAGACACAA	0.303000														36			5		0	0	0.000602	0	0
GLDN	342035	broad.mit.edu	37	15	51696536	51696536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:51696536G>A	uc002aba.3	+	9	1410	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	GLDN_uc002abb.3_Missense_Mutation_p.R290Q	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	414	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TATTTTGATCGAAAATACCTT	0.373000														101			16		0	0	0.004990	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204876	5204876	+	RNA	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:5204876G>A	uc009xhz.2	-	1		c.284C>T								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCTCCCAAATGGCCTGTCCAA	0.478000														113			19		0	0	0.010504	0	0
C10orf2	56652	broad.mit.edu	37	10	102750629	102750629	+	Silent	SNP	C	T	T	rs146690237	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:102750629C>T	uc001ksf.2	+	3	2271	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	C10orf2_uc010qpv.1_Silent_p.I78I|C10orf2_uc001ksg.2_Silent_p.I532I|C10orf2_uc001ksi.2_Silent_p.I78I|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	532	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCGTAGGATCGCAGCTCAAG	0.468000														126			26		0	0	0.009535	0	0
GABBR2	9568	broad.mit.edu	37	9	101258747	101258747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:101258747G>A	uc004ays.3	-	3	1140	c.680C>T	c.(679-681)tCa>tTa	p.S227L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	227					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTCGGTGTCTGAAATCTCAAT	0.537000														62			9		0	0	0.006214	0	0
OR4D1	26689	broad.mit.edu	37	17	56232981	56232981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:56232981C>T	uc010wno.2	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTGTCCACTCCATTGTCCAA	0.532000														48			15		0	0	0.003163	0	0
IL3RA	3563	broad.mit.edu	37	X	1467418	1467418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:1467418G>A	uc004cps.3	+	3	627	c.278G>A	c.(277-279)tGg>tAg	p.W93*	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	93						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCTCCACGTGGATCCTCTTC	0.483000														212			55		0	0	0.014410	0	0
MXRA5	25878	broad.mit.edu	37	X	3228250	3228250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:3228250C>T	uc004crg.4	-	6	8151	c.7994G>A	c.(7993-7995)gGg>gAg	p.G2665E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2665	Ig-like C2-type 11.					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)				ACGTCCCTGCCCAGCCCCGGG	0.587000														37			27		0	0	0.008361	0	0
KCTD20	222658	broad.mit.edu	37	6	36452569	36452569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:36452569G>A	uc003ome.3	+	6	1326	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	KCTD20_uc011dtn.2_Missense_Mutation_p.R66Q|KCTD20_uc010jwk.3_Missense_Mutation_p.R146Q|KCTD20_uc011dto.2_Missense_Mutation_p.R66Q|KCTD20_uc011dtm.2_Missense_Mutation_p.R167Q	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	312						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTAAAGGAACGGGGCCTAAAA	0.348000														105			10		0	0	0.006214	0	0
CD163	9332	broad.mit.edu	37	12	7639179	7639179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:7639179C>T	uc001qsz.3	-	9	2502	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CD163_uc001qta.3_Missense_Mutation_p.E792K|CD163_uc009zfw.2_Missense_Mutation_p.E825K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	792	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATGCGGGATTCTTTTCCATTG	0.512000														146			30		0	0	0.003271	0	0
OR51S1	119692	broad.mit.edu	37	11	4869932	4869932	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4869932G>A	uc010qyo.2	-	0	507	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169L(2)|p.P168S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAGCAGGAATGGCAGGG	0.552000														103			47		0	0	0.014410	0	0
TPX2	22974	broad.mit.edu	37	20	30371683	30371683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:30371683C>T	uc002wwp.1	+	11	2070	c.1372C>T	c.(1372-1374)Cat>Tat	p.H458Y	TPX2_uc010gdv.1_Missense_Mutation_p.H494Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	458					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTTTGAATTTCATTCCAGACC	0.438000														53			7		0	0	0.004482	0	0
PDK1	5163	broad.mit.edu	37	2	173460628	173460628	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:173460628C>T	uc002uhs.3	+	10	1342	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	PDK1_uc010zdz.1_Silent_p.N259N|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Silent_p.N434N|PDK1_uc010zeb.2_Silent_p.N434N	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	414					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			ACAACACCAACCACGAGGCTG	0.468000									Autosomal Dominant Polycystic Kidney Disease					29			12		0	0	0.013537	0	0
PCLO	27445	broad.mit.edu	37	7	82583827	82583827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:82583827C>T	uc003uhx.2	-	4	6731	c.6442G>A	c.(6442-6444)Gat>Aat	p.D2148N	PCLO_uc003uhv.2_Missense_Mutation_p.D2148N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2079					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGTATAATCGGTTACATAT	0.408000														53			5		0	0	0.001168	0	0
UBR4	23352	broad.mit.edu	37	1	19426927	19426927	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:19426927G>A	uc001bbi.3	-	88	13168	c.13164C>T	c.(13162-13164)aaC>aaT	p.N4388N	UBR4_uc010ocv.2_5'Flank|UBR4_uc009vph.3_Silent_p.N22N|UBR4_uc010ocw.2_Silent_p.N79N|UBR4_uc001bbg.3_Silent_p.N99N|UBR4_uc001bbh.3_Silent_p.N97N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4388					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAAATCTTGTTCTTTATAT	0.527000														101			26		0	0	0.004656	0	0
RARRES3	5920	broad.mit.edu	37	11	63313664	63313664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:63313664G>A	uc001nxf.4	+	3	499	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	144					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ACGGCGCTTGGAATCCTGGTT	0.512000														186			82		0	0	0.014410	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600151	141600151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:141600151G>A	uc010ioj.3	-	4	1068	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	266						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGCAGGGATCGATCTTGTTCA	0.423000														149			34		0	0	0.013726	0	0
CCDC37	348807	broad.mit.edu	37	3	126132978	126132978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:126132978G>A	uc010hsg.1	+	2	240	c.181G>A	c.(181-183)Gat>Aat	p.D61N	CCDC37_uc003eiu.1_Missense_Mutation_p.D61N	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	61										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGGGGATGTGGATTTCTTCTT	0.567000														221			60		0	0	0.014410	0	0
MCM3AP	8888	broad.mit.edu	37	21	47666294	47666294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:47666294G>A	uc002zir.1	-	21	4610	c.4574C>T	c.(4573-4575)tCa>tTa	p.S1525L	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.S20L|MCM3AP_uc002zip.1_Missense_Mutation_p.S266L|MCM3AP_uc002ziq.1_Missense_Mutation_p.S452L|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1525					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGCTTAGCTGAAACCAAGTC	0.408000														28			7		0	0	0.008291	0	0
FRG2B	441581	broad.mit.edu	37	10	135438925	135438925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:135438925C>T	uc010qvg.2	-	3	568	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	172						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAAGCTTTTTCGAATTGACGG	0.562000														153			29		0	0	0.012213	0	0
MAP1A	4130	broad.mit.edu	37	15	43817097	43817097	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:43817097C>T	uc001zrt.3	+	3	3893	c.3426C>T	c.(3424-3426)gaC>gaT	p.D1142D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1142						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATATCCTGACCGAAGCCTCT	0.572000														57			7		0	0	0.001984	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882258	6882258	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:6882258C>T	uc002knc.3	+	10	4468	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	ARHGAP28_uc002kne.3_Silent_p.F312F|ARHGAP28_uc010wzi.2_Silent_p.F294F|ARHGAP28_uc002knf.3_Silent_p.F303F	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	294					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCTCTCTCTTCCCTGTGGAAT	0.388000														40			10		0	0	0.010729	0	0
C8orf80	389643	broad.mit.edu	37	8	27927076	27927077	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:27927076_27927077CC>TT	uc003xgm.4	-	3	384_385	c.241_242GG>AA	c.(241-243)gga>AAa	p.G81K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	81						nucleus	GTP binding|GTPase activity	p.G81R(6)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ATACTTGACTCCATTAGGGATG	0.416000														79			19		0	0	0.004672	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334316	35334316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:35334316G>A	uc001byc.3	-	6	2375	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	792					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCGTCGCGTGGGCAGGGGGA	0.697000														26			12		0	0	0.013537	0	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:57257937C>T	uc001cym.4	-	1	955	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.R183R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	183										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						CCAGCTTTTTCCTGGGTTCCT	0.478000														90			13		0	0	0.013537	0	0
TCRB	0	broad.mit.edu	37	7	142099699	142099699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142099699C>T	uc003vyz.1	-	1	103	c.103G>A	c.(103-105)Gga>Aga	p.G35R	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G35R					SubName: Full=Uncharacterized protein;																		ACATCCTGTCCTCTCTTTGCG	0.468000														50			9		0	0	0.006214	0	0
POLD1	5424	broad.mit.edu	37	19	50905548	50905548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50905548C>T	uc010eny.3	+	4	677	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	POLD1_uc002psb.4_Missense_Mutation_p.L226F|POLD1_uc002psc.4_Missense_Mutation_p.L226F|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	226					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCCGCCGTCTCCTGGAACA	0.692000								DNA polymerases (catalytic subunits)						43			12		0	0	0.013537	0	0
SEC23B	10483	broad.mit.edu	37	20	18541303	18541303	+	Silent	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:18541303A>G	uc002wra.2	+	19	2684	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	SEC23B_uc010zsb.2_Silent_p.G723G|SEC23B_uc002wrb.2_Silent_p.G741G|SEC23B_uc002wqz.2_Silent_p.G741G|SEC23B_uc002wrc.2_Silent_p.G741G	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	741					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						AGGAAACTGGAGCACCCATCC	0.438000														99			25		0	0	0.007291	0	0
MYO16	23026	broad.mit.edu	37	13	109859073	109859073	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:109859073T>C	uc010agk.2	+	34	6154	c.5532T>C	c.(5530-5532)gcT>gcC	p.A1844A	MYO16_uc001vqt.1_Silent_p.A1822A	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1822					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.G1843W(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCACCACGCTGAGCCCAGGG	0.602000														43			12		0	0	0.010729	0	0
RBM11	54033	broad.mit.edu	37	21	15588566	15588566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:15588566G>A	uc002yjo.4	+	0	101	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_5'UTR	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	20	RRM.						RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTAGAGGCCCGAGTTCGGGAA	0.612000														19			6		0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	3046514	3046514	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:3046514G>A	uc022aqr.1	-	34	5808	c.5418C>T	c.(5416-5418)ttC>ttT	p.F1806F	CSMD1_uc011kwj.2_Silent_p.F1199F|CSMD1_uc003wqe.3_Silent_p.F963F|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1807	CUB 11.					integral to membrane		p.F1535F(1)|p.F1806F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGTTGAGTGAAATTGCCAC	0.458000														19			6		0	0	0.003080	0	0
ASTN1	460	broad.mit.edu	37	1	176838078	176838078	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:176838078C>T	uc001glc.3	-	21	3761	c.3549G>A	c.(3547-3549)ctG>ctA	p.L1183L	ASTN1_uc001glb.1_Silent_p.L1183L|ASTN1_uc001gld.1_Silent_p.L1183L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1191					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGGGAACCCAGATCCAGGA	0.512000														67			19		0	0	0.010504	0	0
DMBX1	127343	broad.mit.edu	37	1	46978105	46978105	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:46978105A>C	uc001cpx.3	+	3	1103	c.1088A>C	c.(1087-1089)aAc>aCc	p.N363T	DMBX1_uc001cpw.3_Missense_Mutation_p.N358T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	363					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCATCGAGAACCTGCGGCTC	0.642000														69			13		0	0	0.001855	0	0
F13A1	2162	broad.mit.edu	37	6	6225075	6225075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:6225075C>T	uc003mwv.3	-	6	940	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	F13A1_uc011dib.2_Missense_Mutation_p.E210K	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	273					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGGACACCTTCGTCATCTTTG	0.498000														56			12		0	0	0.013537	0	0
EPHA7	2045	broad.mit.edu	37	6	93956528	93956528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:93956528G>A	uc003poe.3	-	14	2949	c.2708C>T	c.(2707-2709)cCc>cTc	p.P903L	EPHA7_uc003pof.3_Missense_Mutation_p.P898L|EPHA7_uc011eac.2_Missense_Mutation_p.P899L	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(1)		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)		AGTTCCCAGGGGAGTTTTCAG	0.398000														61			17		0	0	0.008871	0	0
DICER1	23405	broad.mit.edu	37	14	95569702	95569702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:95569702G>A	uc001ydw.2	-	21	4243	c.4031C>T	c.(4030-4032)tCa>tTa	p.S1344L	DICER1_uc010avh.1_Missense_Mutation_p.S242L|DICER1_uc021sbc.1_Missense_Mutation_p.S1344L|DICER1_uc001ydv.2_Missense_Mutation_p.S1334L|DICER1_uc001ydx.2_Missense_Mutation_p.S1344L|DICER1_uc001ydy.1_Missense_Mutation_p.S196L|DICER1_uc021sbd.1_Missense_Mutation_p.S626L	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1344	RNase III 1.				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	p.S1344L(2)		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)		TCTCATATATGAAAGGCGGCC	0.413000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					38			9		0	0	0.008291	0	0
MYH7	4625	broad.mit.edu	37	14	23888698	23888698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:23888698C>T	uc001wjx.3	-	27	3953	c.3847G>A	c.(3847-3849)Gag>Aag	p.E1283K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1283					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCACCATTCTCGGTTTGCAAC	0.607000														86			35		0	0	0.004878	0	0
CASZ1	54897	broad.mit.edu	37	1	10708004	10708004	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:10708004G>A	uc001aro.3	-	15	3671	c.3351C>T	c.(3349-3351)ctC>ctT	p.L1117L	CASZ1_uc001arp.1_Silent_p.L1117L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1117	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCTTCCAGGCGAGCAGGGTGG	0.687000														50			12		0	0	0.010729	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211432	74211432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:74211432G>A	uc003ubd.1	-	15	2603	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S	GTF2IRD2_uc010lbt.1_Missense_Mutation_p.P354S	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ttcagggtgggaaagtgggcc	0.488000														132			37		0	0	0.007835	0	0
ABCA13	154664	broad.mit.edu	37	7	48550793	48550793	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:48550793C>T	uc003toq.2	+	50	13662	c.13638C>T	c.(13636-13638)ttC>ttT	p.F4546F	ABCA13_uc010kys.1_Silent_p.F1621F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.F276F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4546					transport	integral to membrane	ATP binding|ATPase activity	p.F4546L(1)|p.F4491L(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						TGTCACTTTTCGGGTATGTGA	0.483000														45			9		0	0	0.004482	0	0
ERC2	26059	broad.mit.edu	37	3	55922419	55922419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:55922419C>T	uc021wzo.1	-	12	2702	c.2562G>A	c.(2560-2562)atG>atA	p.M854I	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.M850I|ERC2_uc003dht.1_Missense_Mutation_p.M333I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	854						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTACTCACTTCATCTCCAGGA	0.532000														108			23		0	0	0.002780	0	0
ITGB8	3696	broad.mit.edu	37	7	20418903	20418903	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:20418903G>A	uc003suu.3	+	3	1323	c.618G>A	c.(616-618)agG>agA	p.R206R	ITGB8_uc011jyh.2_Silent_p.R71R|ITGB8_uc003sut.3_Silent_p.R206R	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACCCCGAAAGGATTCATAATC	0.338000														23			7		0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61959955	61959955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61959955G>A	uc001jky.3	-	12	1761	c.1423C>T	c.(1423-1425)Cgc>Tgc	p.R475C	ANK3_uc010qih.2_Missense_Mutation_p.R458C|ANK3_uc001jkz.4_Missense_Mutation_p.R469C|ANK3_uc001jlb.1_Missense_Mutation_p.R4C|ANK3_uc001jlc.1_Missense_Mutation_p.R136C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	475					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R475C(2)		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						TGGCCGGAGCGAGCTGCCATG	0.453000														34			5		0	0	0.001168	0	0
POLR3D	661	broad.mit.edu	37	8	22107734	22107734	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:22107734C>T	uc003xbl.3	+	7	1151	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	POLR3D_uc003xbm.3_Silent_p.F356F|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	356					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGCTCCTTCCTGCAGGTAA	0.557000														42			8		0	0	0.004482	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136434	40136434	+	Missense_Mutation	SNP	C	T	T	rs74858686	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:40136434C>T	uc021qgf.1	-	0	1409	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	LRRC4C_uc001mxc.1_Missense_Mutation_p.R466Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.R466Q|LRRC4C_uc001mxa.1_Missense_Mutation_p.R470Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.R466Q	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	470					regulation of axonogenesis	integral to membrane	protein binding	p.R470Q(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCTGTGGTCCGTGCCTCATC	0.517000														67			13		0	0	0.001855	0	0
DPCR1	135656	broad.mit.edu	37	6	30920880	30920880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:30920880C>T	uc003nsg.2	+	2	4168	c.4168C>T	c.(4168-4170)Cct>Tct	p.P1390S		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	514						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGGCCAGATCCCTTCCCCACG	0.567000														30			7		0	0	0.003080	0	0
A2M	2	broad.mit.edu	37	12	9264767	9264767	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:9264767G>A	uc001qvk.1	-	3	584	c.471C>T	c.(469-471)ccC>ccT	p.P157P	A2M_uc009zgk.1_Silent_p.P7P	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	157					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)	ACTCATTCAGGGGGTGAAAGT	0.423000														50			6		0	0	0.003080	0	0
RIBC2	26150	broad.mit.edu	37	22	45813720	45813720	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:45813720T>C	uc011aqs.2	+	3	641	c.432T>C	c.(430-432)gaT>gaC	p.D144D		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	77										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGGAGAGGATTTAAACTTCC	0.448000														30			5		0	0	0.001168	0	0
ADAM18	8749	broad.mit.edu	37	8	39502882	39502882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:39502882G>A	uc003xni.3	+	10	990	c.935G>A	c.(934-936)gGa>gAa	p.G312E	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G288E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	312	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGTTTGGAGGGATTTTCGGTT	0.313000														50			10		0	0	0.008291	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364705	142364705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142364705G>A	uc003vzx.3	+	1	374	c.340G>A	c.(340-342)Gat>Aat	p.D114N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCCACCAGTGATTTGCACAG	0.512000														52			12		0	0	0.013537	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439658	145439658	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:145439658C>T	uc003lnt.3	+	8	2023	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	SH3RF2_uc011dbl.1_Silent_p.S595S|SH3RF2_uc011dbm.1_Silent_p.S80S|SH3RF2_uc003lnu.3_Silent_p.S86S|SH3RF2_uc011dbn.1_Silent_p.S86S|SH3RF2_uc011dbo.2_Silent_p.S52S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	595							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.S595F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATCCACTCCGCGGCCAGCT	0.632000														43			11		0	0	0.013537	0	0
SLC22A25	387601	broad.mit.edu	37	11	62985178	62985178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62985178G>A	uc001nwr.1	-	2	536	c.536C>T	c.(535-537)tCt>tTt	p.S179F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.S179F	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	179					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTGGAGGTAAGACCATCTGAG	0.507000														54			9		0	0	0.013537	0	0
ADA	100	broad.mit.edu	37	20	43251572	43251572	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:43251572C>T	uc002xmj.3	-	8	807	c.679_splice	c.e8-1	p.A227_splice		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	227					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGTCCACAGCCTGTAGAGAAG	0.582000									Adenosine Deaminase Deficiency					100			30		0	0	0.007291	0	0
NAALADL1	10004	broad.mit.edu	37	11	64822107	64822107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:64822107G>A	uc001ocn.3	-	4	723	c.707C>T	c.(706-708)tCc>tTc	p.S236F	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	236					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGGTACCAGGAGTTGGGAAA	0.612000											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)		30			10		0	0	0.008291	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386569	56386569	+	Missense_Mutation	SNP	C	T	T	rs139202824	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:56386569C>T	uc002ivx.4	-	21	4935	c.4064G>A	c.(4063-4065)cGa>cAa	p.R1355Q	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.R1295Q|BZRAP1_uc010wnt.2_Missense_Mutation_p.R1355Q	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1355						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCAGGGTCTCGGGAAGAACA	0.612000														42			7		0	0	0.001984	0	0
TRAF7	84231	broad.mit.edu	37	16	2223538	2223538	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:2223538G>T	uc002cow.3	+	10	1168	c.1069G>T	c.(1069-1071)Gac>Tac	p.D357Y		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	357					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R356L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GTTCCGGCGGGACGCATCCAT	0.677000														37			10		6.40141e-05	6.95357e-05	0.010729	1	0
ST18	9705	broad.mit.edu	37	8	53084844	53084844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:53084844C>T	uc003xqz.2	-	4	733	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E158K|ST18_uc011lds.1_Missense_Mutation_p.E98K|ST18_uc003xra.2_Missense_Mutation_p.E193K|ST18_uc003xrb.2_Missense_Mutation_p.E193K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	193						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTACTTTCATTGTCATCA	0.438000														51			7		0	0	0.001984	0	0
PRKG1	5592	broad.mit.edu	37	10	54040660	54040660	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:54040660C>T	uc001jjm.3	+	12	1698	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PRKG1_uc001jjo.3_Silent_p.L505L|PRKG1_uc009xow.2_Silent_p.L208L|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAAAATCTCATCCTAGATC	0.388000														57			10		0	0	0.006214	0	0
PEG3	5178	broad.mit.edu	37	19	57326320	57326320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:57326320C>T	uc002qnu.2	-	6	3841	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1135K|PEG3_uc002qnv.2_Missense_Mutation_p.E1164K|PEG3_uc002qnw.2_Missense_Mutation_p.E1040K|PEG3_uc002qnx.2_Missense_Mutation_p.E1038K|PEG3_uc010etr.2_Missense_Mutation_p.E1164K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1164					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTGGACATTCATACAGCTGC	0.448000														99			24		0	0	0.002780	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:19748188G>A	uc009zzj.3	-	4	1273	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	390					'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)		TGGTCCAGGCGAGCCCAGGCC	0.647000														86			18		0	0	0.006122	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986565	51986565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:51986565C>T	uc002pwv.1	+	4	1151	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	384						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGCAGCTCCCCTCCAGGCTCA	0.602000														27			5		0	0	0.000602	0	0
WNK2	65268	broad.mit.edu	37	9	96030989	96030990	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:96030989_96030990CC>AA	uc004ati.1	+	17	3994_3995	c.3994_3995CC>AA	c.(3994-3996)cca>AAa	p.P1332K	WNK2_uc011lud.1_Missense_Mutation_p.P1332K|WNK2_uc004atj.3_Missense_Mutation_p.P1332K|WNK2_uc004atk.3_Missense_Mutation_p.P969K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1332					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ATCTTCGCCCCCACTTCCTCTA	0.619000														14			6		0	0	0.004672	0	0
DBC1	1620	broad.mit.edu	37	9	122075489	122075489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:122075489G>A	uc004bkc.2	-	1	601	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	DBC1_uc004bkd.2_Missense_Mutation_p.H49Y	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	49					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGGAGTGGTGGAAAGGCCCC	0.502000														51			20		0	0	0.007413	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183957	48183957	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:48183957C>T	uc002phh.4	+	5	1724	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	GLTSCR1_uc002phi.4_Silent_p.I268I	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	510							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GACAGCTCATCGCGAACCCCA	0.726000														57			19		0	0	0.007413	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412860	19412860	+	RNA	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:19412860C>T	uc010tcj.1	-	0		c.33250G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATGCATATTTCCTGTCTGAGT	0.284000														80			15		0	0	0.003163	0	0
DMTF1	9988	broad.mit.edu	37	7	86794346	86794346	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:86794346T>C	uc003uih.3	+	2	415	c.89T>C	c.(88-90)aTt>aCt	p.I30T	DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Intron|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.I30T|DMTF1_uc003uim.1_Missense_Mutation_p.I30T|DMTF1_uc003uin.3_5'UTR	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	30	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GGGAATCTCATTCTTCACTGC	0.413000														28			9		0	0	0.004482	0	0
OR9A4	130075	broad.mit.edu	37	7	141619575	141619575	+	Silent	SNP	C	T	T	rs142578561	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141619575C>T	uc003vwu.1	+	0	900	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	300					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)					TCATAGAGGCCCTTCGGGATG	0.428000														68			13		0	0	0.004990	0	0
LYPD2	137797	broad.mit.edu	37	8	143832508	143832508	+	Missense_Mutation	SNP	C	T	T	rs145933616	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:143832508C>T	uc003ywz.3	-	1	222	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	Homo sapiens LY6/PLAUR domain containing 2 (LYPD2), mRNA.	47	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACATGGTTTCGTTGGTGGTG	0.652000														119			25		0	0	0.005443	0	0
CYYR1	116159	broad.mit.edu	37	21	27852747	27852747	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:27852747C>T	uc002yme.3	-	3	499	c.177_splice	c.e3-1	p.S59_splice	CYYR1_uc002ymd.3_Splice_Site_p.S59_splice|CYYR1_uc011ack.2_Splice_Site	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	59						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATTGCAGTGCCCCTAAAAGGA	0.398000														37			13		0	0	0.001855	0	0
CELSR2	1952	broad.mit.edu	37	1	109795360	109795360	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:109795360T>C	uc001dxa.4	+	0	2720	c.2659T>C	c.(2659-2661)Tat>Cat	p.Y887H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	887	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGGCCCAGTATGTCTTGCG	0.562000														374			116		0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761794	77761794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:77761794G>A	uc003yau.2	+	7	4079	c.3692G>A	c.(3691-3693)cGt>cAt	p.R1231H	ZFHX4_uc003yaw.1_Missense_Mutation_p.R1186H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1186						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)			GACCAAAGTCGTATCCAGATG	0.423000										HNSCC(33;0.089)				72			12		0	0	0.002450	0	0
UNC5A	90249	broad.mit.edu	37	5	176301447	176301447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:176301447G>A	uc003mey.3	+	7	1450	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	UNC5A_uc010jkg.1_Missense_Mutation_p.E380K	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	420					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTGAGGCCGAGGAGTTCGT	0.662000														105			30		0	0	0.013726	0	0
EVC2	132884	broad.mit.edu	37	4	5624563	5624563	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:5624563G>C	uc003gij.3	-	13	2256	c.2202C>G	c.(2200-2202)gaC>gaG	p.D734E	EVC2_uc003gik.3_Missense_Mutation_p.D654E|EVC2_uc011bwb.2_Missense_Mutation_p.D174E	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	734						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCTGAGATCGTCCAGGGCGG	0.647000														70			8		0	0	0.004482	0	0
SLC39A10	57181	broad.mit.edu	37	2	196571356	196571356	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:196571356C>T	uc002utg.4	+	3	1447	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	SLC39A10_uc002uth.4_Silent_p.I411I|SLC39A10_uc010zgp.2_5'UTR	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	411					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTTGTGGTATCATTTCTATCA	0.333000														60			8		0	0	0.004482	0	0
ZNF268	10795	broad.mit.edu	37	12	133779296	133779296	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:133779296A>C	uc010tch.2	+	5	1230	c.1024A>C	c.(1024-1026)Agt>Cgt	p.S342R	ZNF268_uc010tbv.1_Missense_Mutation_p.S181R|ZNF268_uc010tbz.1_Missense_Mutation_p.S181R|ZNF268_uc010tcc.1_Missense_Mutation_p.S181R|ZNF268_uc010tcd.1_Missense_Mutation_p.S181R|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.S342R|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.S259R	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	342						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GAAAACATTCAGTTTCCATTC	0.398000														14			4		0	0	0.009096	0	0
ZNF676	163223	broad.mit.edu	37	19	22363644	22363644	+	Missense_Mutation	SNP	G	A	A	rs11671538		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:22363644G>A	uc002nqs.1	-	2	1193	c.875C>T	c.(874-876)tCg>tTg	p.S292L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	292			S -> W (in dbSNP:rs11671538).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S292S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTTGAGGACGAGTTGGAAGC	0.438000														40			12		0	0	0.013537	0	0
XIRP1	165904	broad.mit.edu	37	3	39227520	39227520	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:39227520C>T	uc003cjk.2	-	1	3646	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.Q1139Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1139							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGATGCCATCCTGAATTGTCA	0.617000														91			9		0	0	0.008291	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54118921	54118921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:54118921G>A	uc001sef.3	-	1	250	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F	CALCOCO1_uc010som.2_Missense_Mutation_p.L36F|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Missense_Mutation_p.L36F|CALCOCO1_uc001seg.3_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.L36F|CALCOCO1_uc010soo.1_Missense_Mutation_p.L36F	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	36	N-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGGGGGAAGGGTGTAGTGA	0.537000														62			14		0	0	0.003163	0	0
KIAA2022	340533	broad.mit.edu	37	X	73959290	73959290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:73959290C>T	uc004eby.3	-	3	5118	c.4501G>A	c.(4501-4503)Gtt>Att	p.V1501I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1501					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						ACAGGTAAAACCCAAAAGGTT	0.358000														10			4		0	0	0.009096	0	0
POU2F2	5452	broad.mit.edu	37	19	42599534	42599534	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:42599534G>A	uc002osp.3	-	10	1097	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	POU2F2_uc002osn.3_Silent_p.F329F|POU2F2_uc002osq.3_Silent_p.F329F|POU2F2_uc002osr.2_Silent_p.F345F	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	345					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)				GCCGGTTGCAGAACCAGACGC	0.622000														45			10		0	0	0.010729	0	0
OR52E2	119678	broad.mit.edu	37	11	5080094	5080094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5080094G>A	uc010qyw.2	-	0	764	c.764C>T	c.(763-765)cCa>cTa	p.P255L		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAAGAGGGCTGGTGTATAGAA	0.473000														70			12		0	0	0.013537	0	0
C12orf54	121273	broad.mit.edu	37	12	48880471	48880471	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:48880471G>A	uc001rrr.3	+	4	228	c.97_splice	c.e4-1	p.E33_splice	C12orf54_uc009zky.1_Splice_Site	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	33										endometrium(1)|large_intestine(4)	5						ATTTCTACAGGAAAAACAGGT	0.438000														13			3		0	0	0.009096	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988476	36988476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:36988476C>T	uc001wtu.3	-	1	273	c.177G>A	c.(175-177)atG>atA	p.M59I	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.M29I|NKX2-1_uc001wtv.3_Missense_Mutation_p.M29I|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	29					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CGCCGCCCTCCATGCCCACTT	0.667000			A		NSCLC									19			5		0	0	0.001168	0	0
ZNF823	55552	broad.mit.edu	37	19	11832642	11832642	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:11832642G>A	uc002msm.2	-	3	1833	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	ZNF823_uc010xmd.1_Silent_p.F387F|ZNF823_uc010dyi.1_Silent_p.F525F	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GTCCTCGAAGGAAACGGGAAC	0.428000										HNSCC(68;0.2)				48			10		0	0	0.006214	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933677	62933677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62933677C>T	uc001nwr.1	-	6	1124	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	375					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AACATTGTTTCCCAGATGCTG	0.478000														41			4		0	0	0.009096	0	0
POGZ	23126	broad.mit.edu	37	1	151378399	151378399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:151378399G>A	uc001eyd.2	-	18	3427	c.3112C>T	c.(3112-3114)Cag>Tag	p.Q1038*	POGZ_uc021oyq.1_Nonsense_Mutation_p.Q985*|POGZ_uc010pdb.2_Nonsense_Mutation_p.Q1029*|POGZ_uc010pdc.2_Nonsense_Mutation_p.Q976*|POGZ_uc009wmv.2_Nonsense_Mutation_p.Q943*|POGZ_uc001eyf.2_Nonsense_Mutation_p.Q994*|POGZ_uc010pdd.2_Nonsense_Mutation_p.Q529*	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1038	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTCGCGCTGGGTTAGCACC	0.517000														99			16		0	0	0.006122	0	0
REPS1	85021	broad.mit.edu	37	6	139262517	139262517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:139262517G>A	uc003qii.3	-	7	1669	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	REPS1_uc003qig.4_Missense_Mutation_p.P364S|REPS1_uc011edr.2_Missense_Mutation_p.P364S|REPS1_uc003qij.3_Missense_Mutation_p.P364S|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	364	EH 2.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AAGCTTTCAGGAAGTTTTTCT	0.403000														95			12		0	0	0.010729	0	0
ZNF831	128611	broad.mit.edu	37	20	57828989	57828989	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:57828989A>G	uc002yan.3	+	4	4225	c.4225A>G	c.(4225-4227)Act>Gct	p.T1409A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1409						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGTGACTGTACTACTCACAG	0.473000														105			16		0	0	0.006122	0	0
BTN1A1	696	broad.mit.edu	37	6	26506930	26506930	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:26506930G>A	uc003nif.4	+	3	786	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	243						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCCAAGGCTGACTCCCTGGA	0.463000														221			34		0	0	0.005524	0	0
CDON	50937	broad.mit.edu	37	11	125889648	125889648	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:125889648A>C	uc009zbw.3	-	3	490	c.362T>G	c.(361-363)tTt>tGt	p.F121C	CDON_uc001qdc.4_Missense_Mutation_p.F121C|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Missense_Mutation_p.F121C	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	121	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGATGAACCAAAATCACCAAG	0.358000														25			14		0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13883121	13883121	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:13883121G>A	uc003jfd.2	-	19	3108	c.3066C>T	c.(3064-3066)gtC>gtT	p.V1022V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1022	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V1022I(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)					CAGGGGCCATGACGATGTTGG	0.522000									Kartagener syndrome					87			22		0	0	0.012319	0	0
ADAM33	80332	broad.mit.edu	37	20	3651787	3651787	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:3651787G>A	uc002wit.3	-	18	2193	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.F702F|ADAM33_uc002wis.3_Silent_p.F198F|ADAM33_uc002wiu.3_Silent_p.F676F|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	702					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCCAGCAGGAAGGTGTCAT	0.662000														17			4		0	0	0.009096	0	0
OR9A4	130075	broad.mit.edu	37	7	141618934	141618934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141618934C>T	uc003vwu.1	+	0	259	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	87					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)					ATTGCTGCTCCCTGGGATGCA	0.522000														104			34		0	0	0.003271	0	0
PHF21A	51317	broad.mit.edu	37	11	45987070	45987070	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:45987070G>A	uc001ncc.4	-	8	1413	c.789C>T	c.(787-789)ccC>ccT	p.P263P	PHF21A_uc001ncb.4_Silent_p.P264P|PHF21A_uc009ykx.3_Silent_p.P264P|PHF21A_uc001nce.2_Silent_p.P264P|PHF21A_uc001nca.1_5'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	263					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TCAGCATGACGGGCCTCTGGA	0.562000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			13		0	0	0.001855	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5240021	5240021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:5240021G>A	uc003jdl.3	+	15	2644	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E836K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	836	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCAACCAACGAGACACTGAT	0.493000														90			20		0	0	0.014323	0	0
HOMER3	9454	broad.mit.edu	37	19	19042209	19042209	+	Silent	SNP	G	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:19042209G>C	uc002nku.2	-	7	1472	c.819C>G	c.(817-819)acC>acG	p.T273T	HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.2_Silent_p.T237T|HOMER3_uc010ebz.2_Silent_p.T273T|HOMER3_uc002nkw.2_Silent_p.T273T|HOMER3_uc002nkv.2_Silent_p.T273T	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	273					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			GACTCTTCAGGGTCTGAATCT	0.637000														82			18		0	0	0.004990	0	0
ATP1B4	23439	broad.mit.edu	37	X	119504679	119504679	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:119504679G>A	uc004esr.3	+	2	522	c.438G>A	c.(436-438)acG>acA	p.T146T	ATP1B4_uc004esq.3_Silent_p.T142T|ATP1B4_uc011mtx.2_Silent_p.T111T|ATP1B4_uc011mty.2_Intron	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	146					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.K146N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAACCTTCACGGAGCGGGTAA	0.478000														93			53		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249777	140249777	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140249777G>A	uc003lia.2	+	0	1947	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.Q363Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	379	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q363H(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)			AGGACGCTCAGCCCAGCACGG	0.582000														52			10		0	0	0.006214	0	0
QSER1	79832	broad.mit.edu	37	11	32953685	32953685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:32953685C>T	uc001mty.3	+	3	761	c.494C>T	c.(493-495)gCc>gTc	p.A165V	QSER1_uc001mtz.1_Missense_Mutation_p.A165V|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	165	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACTCCTCAAGCCTACAGTTCA	0.458000														115			38		0	0	0.006230	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121646	38121646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:38121646C>T	uc003atr.3	+	6	3354	c.3083C>T	c.(3082-3084)tCg>tTg	p.S1028L	TRIOBP_uc003atu.3_Missense_Mutation_p.S856L|TRIOBP_uc003atq.1_Missense_Mutation_p.S1028L|TRIOBP_uc003ats.1_Missense_Mutation_p.S856L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1028					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			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)					CGAGCCTCTTCGCCCCCTCGC	0.657000														91			17		0	0	0.006122	0	0
RTTN	25914	broad.mit.edu	37	18	67671411	67671411	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:67671411G>A	uc002lkp.2	-	48	6725	c.6657C>T	c.(6655-6657)ctC>ctT	p.L2219L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L1307L|RTTN_uc002lkn.2_Intron|RTTN_uc010dqp.2_Silent_p.L471L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	2219							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGAGCTGCACGAGGTTTTCAA	0.413000														39			8		0	0	0.006214	0	0
IQSEC3	440073	broad.mit.edu	37	12	247543	247543	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:247543C>T	uc001qhw.2	+	3	1014	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	IQSEC3_uc001qhu.1_Silent_p.I35I|LOC574538_uc001qhv.1_Non-coding_Transcript	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	338	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.I338I(1)|p.I35I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCGAGAAAATCCGCAACTCGC	0.632000														26			4		0	0	0.009096	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602939	37602940	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:37602939_37602940GG>AA	uc002yvg.3	+	13	1936_1937	c.1857_1858GG>AA	c.(1855-1860)aagggc>aaAAgc	p.G620S	DOPEY2_uc011aeb.2_Missense_Mutation_p.G620S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	620					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGGAAGAAGGGCGGGAGCAT	0.540000														97			13		0	0	0.004672	0	0
C3P1	388503	broad.mit.edu	37	19	10169529	10169529	+	RNA	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:10169529G>A	uc010dwx.2	+	17		c.2164G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TTCCTGGAGAGAAAACTTCCC	0.562000														62			12		0	0	0.004007	0	0
ARAP2	116984	broad.mit.edu	37	4	36083903	36083903	+	Missense_Mutation	SNP	C	T	T	rs144848991		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:36083903C>T	uc003gsq.2	-	29	4852	c.4514G>A	c.(4513-4515)gGa>gAa	p.G1505E		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1505	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGCGGTCAATCCCCAGCTGCA	0.308000														15			7		0	0	0.003080	0	0
CTIF	9811	broad.mit.edu	37	18	46190191	46190191	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:46190191C>T	uc002ldd.3	+	4	680	c.321C>T	c.(319-321)tcC>tcT	p.S107S	CTIF_uc002ldc.3_Silent_p.S107S	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	107	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCTTCGATTCCTTCAGGTAAC	0.562000											OREG0024970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			20		0	0	0.014323	0	0
DHX57	90957	broad.mit.edu	37	2	39090550	39090550	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:39090550T>C	uc002rrf.3	-	2	435	c.336A>G	c.(334-336)aaA>aaG	p.K112K	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Silent_p.K112K	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	112							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGAGAAGAGCTTTCACTTTCT	0.393000														90			17		0	0	0.004990	0	0
MRS2	57380	broad.mit.edu	37	6	24423265	24423265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:24423265C>T	uc011djl.2	+	10	1339	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L	MRS2_uc003nea.3_Missense_Mutation_p.P403L|MRS2_uc003neb.3_Missense_Mutation_p.P403L|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.P353L	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	403					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CTAGAAGCTCCATTGCCTCCT	0.478000														109			14		0	0	0.003163	0	0
SAP130	79595	broad.mit.edu	37	2	128703068	128703068	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:128703068A>G	uc010fmd.2	-	18	3073	c.2941T>C	c.(2941-2943)Tgg>Cgg	p.W981R	SAP130_uc002tpn.2_Missense_Mutation_p.W706R|SAP130_uc002tpp.2_Missense_Mutation_p.W946R	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	946	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.K981K(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGACTTTCCAGCCTTGAGCA	0.438000														49			9		0	0	0.006214	0	0
LY6K	54742	broad.mit.edu	37	8	143784711	143784712	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:143784711_143784712GG>TA	uc011ljv.2	+	2	837_838	c.420_421GG>TA	c.(418-423)atgggt>atTAgt	p.140_141MG>IS	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_3'UTR	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	140	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.A140A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGGAGCATGGGTGAGAGCTG	0.545000														76			14		0	0	0.004672	0	0
SDPR	8436	broad.mit.edu	37	2	192701396	192701396	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:192701396G>A	uc002utb.3	-	1	886	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	177						caveola|cytosol	phosphatidylserine binding|protein binding	p.V176I(1)		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)	CCACGGCACCGGAAACGGGCT	0.488000														33			9		0	0	0.004482	0	0
DOCK2	1794	broad.mit.edu	37	5	169504715	169504715	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:169504715C>T	uc003maf.3	+	48	4947	c.4867_splice	c.e48-1	p.P1623_splice	DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.P1115_splice|DOCK2_uc003mah.3_Splice_Site_p.P179_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1623					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACCACAGCCTGACTTTGAC	0.572000														63			16		0	0	0.004990	0	0
DOCK2	1794	broad.mit.edu	37	5	169122807	169122807	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:169122807G>A	uc003maf.3	+	10	924	c.844_splice	c.e10-1	p.D282_splice	DOCK2_uc011der.2_Splice_Site	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	282					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCCCCCCAGGATCTTGGAAA	0.393000														70			12		0	0	0.001855	0	0
SCN9A	6335	broad.mit.edu	37	2	167056225	167056225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:167056225G>A	uc010fpl.3	-	26	5232	c.4891C>T	c.(4891-4893)Cct>Tct	p.P1631S	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1642						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACAACGCAGGAAGGGACATC	0.488000														95			13		0	0	0.001855	0	0
ITK	3702	broad.mit.edu	37	5	156655358	156655358	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:156655358C>T	uc003lwo.1	+	6	782	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	234					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCAAATAATCTGGAAACCTA	0.294000			T	SYK	peripheral T-cell lymphoma									262			61		0	0	0.014410	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356460	16356460	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:16356460G>A	uc001axu.3	+	14	1378	c.1298_splice	c.e14-1	p.G433_splice	CLCNKA_uc001axt.3_Splice_Site|CLCNKA_uc010obw.2_Splice_Site_p.G390_splice|CLCNKA_uc001axv.3_Splice_Site_p.G433_splice|CLCNKA_uc010obx.1_Splice_Site_p.G80_splice|CLCNKA_uc010oby.1_Splice_Site_p.G169_splice|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	433					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGTGGCCAGGAGCTGCCATC	0.642000														59			12		0	0	0.013537	0	0
RRN3	54700	broad.mit.edu	37	16	15166834	15166834	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:15166834G>A	uc002dde.3	-	11	1169	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Silent_p.F235F|RRN3_uc010uzq.2_Silent_p.F337F	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	367					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GGTAAAACATGAAAAACTGTA	0.383000														39			8		0	0	0.003080	0	0
KRT39	390792	broad.mit.edu	37	17	39118439	39118439	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39118439A>G	uc002hvo.1	-	4	1007	c.971T>C	c.(970-972)gTt>gCt	p.V324A	KRT39_uc010wfm.1_Missense_Mutation_p.V57A	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	324	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGCAGTTCAACCTCCAGAGT	0.498000														215			32		0	0	0.013726	0	0
OR10J3	441911	broad.mit.edu	37	1	159284091	159284091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:159284091C>T	uc010piu.2	-	0	359	c.359G>A	c.(358-360)gGa>gAa	p.G120E		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCGGTCATATCCCATGACTGT	0.517000														57			20		0	0	0.010504	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744484	37744484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:37744484G>A	uc004aag.1	+	15	2499	c.2455G>A	c.(2455-2457)Gga>Aga	p.G819R	FRMPD1_uc004aah.1_Missense_Mutation_p.G819R	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	819						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGGGCCAGATGGAAGACAGCC	0.532000														75			30		0	0	0.007291	0	0
RIMS1	22999	broad.mit.edu	37	6	73108726	73108726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:73108726G>A	uc003pga.3	+	32	4867	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	RIMS1_uc011dyb.2_Missense_Mutation_p.R994Q|RIMS1_uc003pgc.3_Missense_Mutation_p.R1012Q|RIMS1_uc010kaq.3_Missense_Mutation_p.R917Q|RIMS1_uc011dyc.2_Missense_Mutation_p.R722Q|RIMS1_uc010kar.3_Missense_Mutation_p.R665Q|RIMS1_uc011dyd.2_Missense_Mutation_p.R731Q|RIMS1_uc003pge.3_Missense_Mutation_p.R637Q|RIMS1_uc003pgf.3_Missense_Mutation_p.R597Q|RIMS1_uc003pgi.3_Missense_Mutation_p.R413Q|RIMS1_uc003pgg.3_Missense_Mutation_p.R493Q|RIMS1_uc003pgh.3_Missense_Mutation_p.R464Q|RIMS1_uc003pgd.3_Missense_Mutation_p.R663Q|RIMS1_uc011dye.2_Missense_Mutation_p.R403Q|RIMS1_uc011dyf.2_Missense_Mutation_p.R221Q|RIMS1_uc011dyg.2_Missense_Mutation_p.R124Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1597	C2 2.				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	p.R1597Q(2)		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)				AGAATTGCACGAAAAACCCTT	0.353000														30			13		0	0	0.001855	0	0
PUM2	23369	broad.mit.edu	37	2	20508338	20508338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:20508338G>A	uc002rds.1	-	4	544	c.526C>T	c.(526-528)Cct>Tct	p.P176S	PUM2_uc002rdt.1_Missense_Mutation_p.P176S|PUM2_uc002rdr.2_Missense_Mutation_p.P115S|PUM2_uc010yjy.1_Missense_Mutation_p.P176S|PUM2_uc002rdu.1_Missense_Mutation_p.P176S|PUM2_uc010yjz.1_Missense_Mutation_p.P115S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	176	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACTTCCAGGAGTACGACTA	0.398000														48			9		0	0	0.006214	0	0
XIRP2	129446	broad.mit.edu	37	2	168104646	168104646	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:168104646G>A	uc002udx.3	+	8	6833	c.6744G>A	c.(6742-6744)ttG>ttA	p.L2248L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.L2073L|XIRP2_uc010fpq.3_Silent_p.L2026L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2073					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						ATGTTCACTTGAAAAGCCAGG	0.368000														27			5		0	0	0.001168	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411484	105411484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:105411484G>A	uc010axc.1	-	6	10424	c.10304C>T	c.(10303-10305)tCt>tTt	p.S3435F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S3335F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3435						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGGGCAGAGACACCTCCAC	0.632000														117			33		0	0	0.013726	0	0
OR52N4	390072	broad.mit.edu	37	11	5776340	5776340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5776340C>T	uc001mbu.3	+	0	418	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGCCCTGGATCGCTATGTGGC	0.493000														116			22		0	0	0.002780	0	0
ZNF34	80778	broad.mit.edu	37	8	145999437	145999437	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:145999437C>G	uc003zdy.4	-	5	999	c.897G>C	c.(895-897)agG>agC	p.R299S	ZNF34_uc010mgb.3_Missense_Mutation_p.R196S|ZNF34_uc003zdx.4_Missense_Mutation_p.R278S	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTGAGTGCATCCTTCGGTGAT	0.532000														37			10		0	0	0.008291	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54926004	54926004	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:54926004G>A	uc001sgc.4	+	25	2911	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K	NCKAP1L_uc010sox.2_Silent_p.K486K|NCKAP1L_uc010soy.2_Silent_p.K894K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	944					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTGCTTGAAGGAGTTTGTCA	0.438000														56			7		0	0	0.004482	0	0
KLHL1	57626	broad.mit.edu	37	13	70293705	70293705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:70293705G>A	uc001vip.3	-	8	2605	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	KLHL1_uc010thm.2_Missense_Mutation_p.S543L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	604					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACCTCCAACTGAATACAACCT	0.333000														31			6		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179435133	179435133	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179435133C>T	uc021vsy.1	-	274	68247	c.68022G>A	c.(68020-68022)gtG>gtA	p.V22674V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V16369V|TTN_uc021vta.1_Silent_p.V16302V|TTN_uc021vtb.1_Silent_p.V16177V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23601	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCCTTTCCACAATATAAT	0.438000														33			11		0	0	0.008291	0	0
FXYD5	53827	broad.mit.edu	37	19	35657309	35657309	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:35657309T>C	uc010xsq.2	+	7	656	c.568T>C	c.(568-570)Tgg>Cgg	p.W190R	FXYD5_uc002nyg.2_Intron|FXYD5_uc021usk.1_Intron|FXYD5_uc002nyh.2_Intron|FXYD5_uc021usl.1_Intron|FXYD5_uc002nyi.2_Intron|FXYD5_uc002nyj.1_5'Flank	NM_144779	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA.	0					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CAAAGGTCCCTGGGCAATTTT	0.453000														35			5		0	0	0.000602	0	0
CACNG3	10368	broad.mit.edu	37	16	24373110	24373110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:24373110C>T	uc002dmf.3	+	3	2076	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	292					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCTACAGTTCCACAATTCCAC	0.562000														57			24		0	0	0.003330	0	0
XIRP2	129446	broad.mit.edu	37	2	168101368	168101368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:168101368G>A	uc002udx.3	+	8	3555	c.3466G>A	c.(3466-3468)Gag>Aag	p.E1156K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E981K|XIRP2_uc010fpq.3_Missense_Mutation_p.E934K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	981					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						AAAACAGGAGGAGATCCAAGG	0.398000														43			11		0	0	0.010729	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086776	39086776	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:39086776C>T	uc011aej.1	-	2	737	c.684G>A	c.(682-684)agG>agA	p.R228R	KCNJ6_uc002ywo.2_Silent_p.R228R	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	228					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGTGGGAATTCCTAAGGTCCC	0.532000														50			12		0	0	0.001855	0	0
SLIT2	9353	broad.mit.edu	37	4	20620412	20620412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:20620412G>A	uc003gpr.1	+	36	4574	c.4370G>A	c.(4369-4371)aGg>aAg	p.R1457K	SLIT2_uc003gps.1_Missense_Mutation_p.R1449K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1457	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGAGGGGAAAGGATAAGAGAT	0.448000														63			14		0	0	0.002450	0	0
FNBP4	23360	broad.mit.edu	37	11	47776089	47776089	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:47776089G>A	uc009ylv.3	-	2	594	c.441C>T	c.(439-441)aaC>aaT	p.N147N	FNBP4_uc001ngj.3_Silent_p.N54N|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	147										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCGCTAGGAAGTTGGCCAATG	0.418000														66			11		0	0	0.010729	0	0
EGR4	1961	broad.mit.edu	37	2	73519395	73519395	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:73519395C>T	uc010yrj.2	-	1	1035	c.960G>A	c.(958-960)ggG>ggA	p.G320G	EGR4_uc010yrk.1_Silent_p.G319G	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	216						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						ACCCACAGTTCCCTGGGGCCC	0.672000														19			4		0	0	0.000602	0	0
TRA	0	broad.mit.edu	37	14	22180973	22180973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22180973G>A	uc021roz.1	+	1	253	c.245G>A	c.(244-246)cGa>cAa	p.R82Q						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		CAGCAGGGACGATACAACATG	0.512000														151			38		0	0	0.007835	0	0
RNF219	79596	broad.mit.edu	37	13	79191042	79191042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:79191042C>T	uc001vkw.1	-	5	913	c.854G>A	c.(853-855)aGt>aAt	p.S285N	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.S95N	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	285							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ATCCTCCTCACTGCCTTTGCT	0.483000														68			10		0	0	0.006214	0	0
TLR4	7099	broad.mit.edu	37	9	120475079	120475079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:120475079G>A	uc004bjz.3	+	2	964	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	TLR4_uc004bkb.3_Missense_Mutation_p.E25K|TLR4_uc004bka.3_Missense_Mutation_p.E185K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	225					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCATTTAAAGAAATTAGGCT	0.373000														48			12		0	0	0.010729	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561654	11561654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:11561654G>A	uc001ash.4	+	1	743	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	PTCHD2_uc001asi.1_Missense_Mutation_p.R202Q	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	202					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGAGCGGGCGACTTCGGCGT	0.687000														25			8		0	0	0.004482	0	0
CRB1	23418	broad.mit.edu	37	1	197396670	197396670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:197396670C>T	uc001gtz.3	+	6	2424	c.2215C>T	c.(2215-2217)Ctc>Ttc	p.L739F	CRB1_uc010poz.2_Missense_Mutation_p.L670F|CRB1_uc009wza.3_Missense_Mutation_p.L627F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.L220F|CRB1_uc001gub.1_Missense_Mutation_p.L388F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	739	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CACCATCAGCCTCTCCATGTT	0.463000														38			8		0	0	0.003080	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936832	4936832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:4936832C>T	uc002gap.4	-	2	1665	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	SLC52A1_uc002gao.4_Missense_Mutation_p.V318M|SLC52A1_uc010ckw.3_Missense_Mutation_p.V196M|SLC52A1_uc010ckx.3_Missense_Mutation_p.V318M	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	318						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTGCCCAGCACCACAGCCAGG	0.622000														46			6		0	0	0.001984	0	0
KRT35	3886	broad.mit.edu	37	17	39635247	39635247	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39635247C>T	uc002hws.3	-	4	755	c.712_splice	c.e4-1	p.E238_splice		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	238	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GAGTTCACTTCCTATAGCACA	0.557000														38			7		0	0	0.001984	0	0
TIPIN	54962	broad.mit.edu	37	15	66633495	66633495	+	Silent	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:66633495T>A	uc002apr.2	-	6	761	c.675A>T	c.(673-675)ctA>ctT	p.L225L	TIPIN_uc010ujn.1_Silent_p.L124L|TIPIN_uc010ujo.1_Silent_p.L124L	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	Homo sapiens TIMELESS interacting protein (TIPIN), mRNA.	225					DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TACCATTTCCTAGGGTCTGAC	0.358000														97			21		0	0	0.002780	0	0
OTOA	146183	broad.mit.edu	37	16	21709189	21709189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:21709189C>T	uc002djh.3	+	8	834	c.833C>T	c.(832-834)cCt>cTt	p.P278L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.P199L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	278					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAAATTAGTCCTATAGAAGTA	0.383000														55			12		0	0	0.001855	0	0
VPS13C	54832	broad.mit.edu	37	15	62209763	62209763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:62209763C>T	uc002agz.3	-	59	7923	c.7832G>A	c.(7831-7833)tGg>tAg	p.W2611*	VPS13C_uc002aha.3_Nonsense_Mutation_p.W2568*|VPS13C_uc002ahb.2_Nonsense_Mutation_p.W2611*|VPS13C_uc002ahc.2_Nonsense_Mutation_p.W2568*|VPS13C_uc002ahd.1_5'UTR	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2611					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTTCCTTCCAGGAAATATA	0.413000														55			10		0	0	0.008291	0	0
NBAS	51594	broad.mit.edu	37	2	15448367	15448367	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:15448367G>A	uc002rcc.1	-	39	4796	c.4770C>T	c.(4768-4770)ttC>ttT	p.F1590F	NBAS_uc010exl.1_Silent_p.F662F|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1590										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTTGTCCCTGAAACATGGGG	0.453000														73			25		0	0	0.007291	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64698008	64698008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:64698008C>T	uc001obz.3	+	6	1131	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	PPP2R5B_uc001oby.3_Missense_Mutation_p.R280C	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	280					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTTCCTGGTTCGCGTCCTGAT	0.607000														82			18		0	0	0.010504	0	0
MLXIP	22877	broad.mit.edu	37	12	122622109	122622109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:122622109C>T	uc001ubq.3	+	11	2234	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	MLXIP_uc001ubt.3_Missense_Mutation_p.S316F	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCAGGGAAATCCGACCCCAAA	0.567000														105			18		0	0	0.008871	0	0
MPDZ	8777	broad.mit.edu	37	9	13106996	13106996	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:13106996T>C	uc010mhy.3	-	44	6151	c.6094A>G	c.(6094-6096)Aaa>Gaa	p.K2032E	MPDZ_uc003zkx.4_Missense_Mutation_p.K256E|MPDZ_uc003zky.4_Missense_Mutation_p.K595E|MPDZ_uc010mib.3_Missense_Mutation_p.K766E|MPDZ_uc010mhx.3_Missense_Mutation_p.K883E|MPDZ_uc011lmm.2_Missense_Mutation_p.K920E|MPDZ_uc003zkz.4_Missense_Mutation_p.K754E|MPDZ_uc010mhz.3_Missense_Mutation_p.K2028E|MPDZ_uc011lmn.2_Missense_Mutation_p.K1999E|MPDZ_uc003zlb.4_Missense_Mutation_p.K2032E	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	2061	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.T2032A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACAGTGCCTTTTGTCCGTTTA	0.488000														124			31		0	0	0.009535	0	0
IL17RE	132014	broad.mit.edu	37	3	9948439	9948439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:9948439C>T	uc003btu.3	+	5	540	c.536C>T	c.(535-537)tCc>tTc	p.S179F	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.S139F|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Missense_Mutation_p.S23F|IL17RE_uc010hcq.3_Missense_Mutation_p.S139F|IL17RE_uc003btw.3_Missense_Mutation_p.S139F	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	139						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CATCACATTTCCATCCCCTCC	0.532000														104			31		0	0	0.003755	0	0
UBR4	23352	broad.mit.edu	37	1	19494556	19494556	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:19494556G>A	uc001bbi.3	-	27	3868	c.3864C>T	c.(3862-3864)ctC>ctT	p.L1288L	UBR4_uc001bbm.1_Silent_p.L499L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1288					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCAGTGAGAGGAGGGTATGCT	0.498000														106			22		0	0	0.014323	0	0
MDN1	23195	broad.mit.edu	37	6	90421914	90421914	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:90421914G>A	uc003pnn.1	-	48	7608	c.7492C>T	c.(7492-7494)Ctg>Ttg	p.L2498L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2498					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGAATTTCAGGTTCTCAGGG	0.398000														107			32		0	0	0.003755	0	0
ILDR1	286676	broad.mit.edu	37	3	121712802	121712802	+	Missense_Mutation	SNP	G	A	A	rs146027039		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:121712802G>A	uc003ees.3	-	6	997	c.794C>T	c.(793-795)tCc>tTc	p.S265F	ILDR1_uc003eeq.3_Missense_Mutation_p.S233F|ILDR1_uc003eer.3_Missense_Mutation_p.S221F|ILDR1_uc010hrg.3_Missense_Mutation_p.S176F	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	265						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CGGGAGGCTGGACGGCAGGGA	0.493000														42			8		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203659	140203659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140203659G>A	uc003lhl.2	+	0	2299	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	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_uc003lhk.1_Missense_Mutation_p.D767N|PCDHAC2_uc003lhj.1_Missense_Mutation_p.D767N	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	805					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAAAACAGACCTCATGGC	0.542000														33			8		0	0	0.003080	0	0
AFF2	2334	broad.mit.edu	37	X	148037328	148037328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:148037328G>A	uc004fcp.3	+	10	2232	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	AFF2_uc004fcq.3_Missense_Mutation_p.E575K|AFF2_uc004fcr.3_Missense_Mutation_p.E546K|AFF2_uc011mxb.2_Missense_Mutation_p.E550K|AFF2_uc004fcs.3_Missense_Mutation_p.E552K|AFF2_uc011mxc.2_Missense_Mutation_p.E226K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	585					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACCCAAAGAAAGGCCTCT	0.483000														60			45		0	0	0.009718	0	0
DZIP3	9666	broad.mit.edu	37	3	108363531	108363531	+	Silent	SNP	C	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:108363531C>A	uc003dxd.3	+	13	2084	c.1662C>A	c.(1660-1662)ccC>ccA	p.P554P	DZIP3_uc003dxf.1_Silent_p.P554P|DZIP3_uc011bhm.2_Silent_p.P5P|DZIP3_uc003dxe.1_Silent_p.P554P|DZIP3_uc003dxg.1_Silent_p.P277P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	554					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGGAGAATCCCATTGAGAATA	0.398000														68			16		3.45872e-05	3.76062e-05	0.004007	1	0
LILRA5	353514	broad.mit.edu	37	19	54823417	54823417	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:54823417C>T	uc002qfe.3	-	4	245	c.125_splice	c.e4-1	p.G42_splice	LILRA5_uc002qff.3_Splice_Site_p.G30_splice|LILRA5_uc010yev.2_Splice_Site_p.G42_splice|LILRA5_uc010yew.2_Splice_Site_p.G30_splice|LILRA5_uc002qfg.1_Splice_Site_p.G42_splice|LILRA5_uc002qfh.1_Splice_Site_p.G30_splice	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	42					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGAGGTTCCCTGGAAGGA	0.622000														54			9		0	0	0.008291	0	0
ADAM18	8749	broad.mit.edu	37	8	39468211	39468211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:39468211C>T	uc003xni.3	+	5	563	c.508C>T	c.(508-510)Cct>Tct	p.P170S	ADAM18_uc003xnh.3_Missense_Mutation_p.P170S|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.P170S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	170					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P170S(4)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTACAAAGTTCCTTTAAACTC	0.323000														33			6		0	0	0.003080	0	0
GRM7	2917	broad.mit.edu	37	3	7620311	7620311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:7620311G>A	uc003bqm.2	+	7	1992	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R573Q|GRM7_uc003bql.2_Missense_Mutation_p.R573Q|GRM7_uc003bqn.1_Missense_Mutation_p.R156Q|GRM7_uc010hch.1_Missense_Mutation_p.R84Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	573					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AATGAAAATCGAACCGGATGC	0.527000														110			17		0	0	0.004990	0	0
FAP	2191	broad.mit.edu	37	2	163044741	163044741	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:163044741G>A	uc002ucd.3	-	19	1960	c.1752C>T	c.(1750-1752)ctC>ctT	p.L584L	FAP_uc010fpc.3_Silent_p.L133L|FAP_uc010zct.2_Silent_p.L559L	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	584					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CTGCATAGAGGAGTTTGTCAC	0.438000														72			17		0	0	0.004990	0	0
NCKAP5	344148	broad.mit.edu	37	2	133538682	133538682	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:133538682T>C	uc002ttp.3	-	14	5366	c.4992A>G	c.(4990-4992)ggA>ggG	p.G1664G	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1664							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTTGTGGTTTCCTTGAGTAC	0.453000														23			6		0	0	0.001984	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968276	102968276	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:102968276C>T	uc002tbu.1	+	10	1837	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	522	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATAAAAGGTCCCTGAATTCTA	0.512000														54			7		0	0	0.001984	0	0
GGCX	2677	broad.mit.edu	37	2	85788065	85788065	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:85788065C>T	uc002sps.3	-	1	193	c.87G>A	c.(85-87)agG>agA	p.R29R	GGCX_uc010yss.2_5'Flank|GGCX_uc010yst.2_Intron	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	29					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GGCTGTCCTGCCTGGGCCCTG	0.507000														212			14		0	0	0.004007	0	0
COL24A1	255631	broad.mit.edu	37	1	86289269	86289269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:86289269C>T	uc001dlj.3	-	44	3814	c.3739G>A	c.(3739-3741)Gaa>Aaa	p.E1247K	COL24A1_uc001dli.3_Missense_Mutation_p.E383K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E547K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1247	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCACCTGGTTCGCCCTTTAGT	0.313000														54			11		0	0	0.013537	0	0
USP32	84669	broad.mit.edu	37	17	58284461	58284461	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:58284461G>A	uc002iyo.1	-	24	3244	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L	USP32_uc002iyn.1_Silent_p.L656L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	986					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CACTCACTGAGAGTCGTACTT	0.408000														17			6		0	0	0.004482	0	0
APOBR	55911	broad.mit.edu	37	16	28508738	28508738	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:28508738G>A	uc002dqb.2	+	1	2409	c.2376G>A	c.(2374-2376)tcG>tcA	p.S792S	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Silent_p.S321S	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	783	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCTGGGACTCGAAAGAAAAGG	0.592000														22			6		0	0	0.001984	0	0
PNMA2	10687	broad.mit.edu	37	8	26365392	26365392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:26365392G>A	uc022atc.1	-	0	880	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	PNMA2_uc003xez.2_Missense_Mutation_p.R294C	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	294					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tgctccaggcggacctggtcc	0.622000														34			6		0	0	0.001168	0	0
C4orf51	646603	broad.mit.edu	37	4	146653646	146653646	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:146653646T>C	uc003ikk.3	+	5	543	c.543T>C	c.(541-543)tcT>tcC	p.S181S		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA.	181										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TTTGCTCATCTGAGGATTCAG	0.502000														22			8		0	0	0.004482	0	0
NWD1	284434	broad.mit.edu	37	19	16902353	16902353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:16902353G>A	uc002neu.4	+	13	3555	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K	NWD1_uc002net.4_Missense_Mutation_p.E910K|NWD1_uc002nev.4_Missense_Mutation_p.E839K|NWD1_uc021uqg.1_Missense_Mutation_p.E910K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1045							ATP binding	p.R1044R(2)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGCATCAAAGAAGAAACACC	0.507000														67			11		0	0	0.008291	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691111	129691111	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:129691111G>A	uc003vpi.3	-	0	123	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	32					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCAGCTGCCGGATTTTCTGGG	0.592000														68			13		0	0	0.001855	0	0
TRPM2	7226	broad.mit.edu	37	21	45817680	45817680	+	Silent	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:45817680A>G	uc010gpt.1	+	12	2083	c.1983A>G	c.(1981-1983)gaA>gaG	p.E661E	TRPM2_uc002zet.1_Silent_p.E661E|TRPM2_uc002zeu.1_Silent_p.E661E|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.E661E|TRPM2_uc002zex.1_Silent_p.E447E|TRPM2_uc002zey.1_Silent_p.E174E	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	661						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCTGAAGGAACTGTCCAAGG	0.637000														31			5		0	0	0.000602	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635657	141635657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141635657C>T	uc003vwv.1	-	4	499	c.302G>A	c.(301-303)gGa>gAa	p.G101E	CLEC5A_uc011krm.1_Missense_Mutation_p.G78E|CLEC5A_uc003vww.1_Missense_Mutation_p.G101E|CLEC5A_uc010lnq.1_Missense_Mutation_p.G78E|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	101	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGATCCTTTTCCTTTGCAAAA	0.443000														74			14		0	0	0.001855	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578788	44578788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:44578788G>A	uc003tlb.3	-	1	1264	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	NPC1L1_uc011kbw.2_Missense_Mutation_p.P403L|NPC1L1_uc003tlc.3_Missense_Mutation_p.P403L|NPC1L1_uc003tld.3_Missense_Mutation_p.P403L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	403					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.G402A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCGGAAGAAGGGGCCGAAATG	0.582000														121			19		0	0	0.010504	0	0
ZNF878	729747	broad.mit.edu	37	19	12155515	12155515	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:12155515T>A	uc021upl.1	-	3	867	c.701A>T	c.(700-702)aAa>aTa	p.K234I	ZNF878_uc002mta.1_Missense_Mutation_p.K281I	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAAAAGGCTTTCCCACATAT	0.398000														54			13		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222932	140222932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140222932C>T	uc003lhs.2	+	0	2026	c.2026C>T	c.(2026-2028)Cca>Tca	p.P676S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P676S	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	685	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGGCTCCAAAAGCGTC	0.637000														71			21		0	0	0.010504	0	0
OR56A5	390084	broad.mit.edu	37	11	5989503	5989503	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5989503G>A	uc010qzu.2	-	0	222	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	74						integral to membrane|plasma membrane	olfactory receptor activity										GGCAGAGTACGATGTCCAGCA	0.562000														35			17		0	0	0.007413	0	0
RNF17	56163	broad.mit.edu	37	13	25370412	25370412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:25370412C>T	uc001upr.3	+	10	1419	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	RNF17_uc010tdd.1_Missense_Mutation_p.P319S|RNF17_uc010tde.2_Missense_Mutation_p.P460S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P399S|RNF17_uc001upq.1_3'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	460					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACACCTTGATCCTTCAGACAT	0.328000														62			16		0	0	0.003163	0	0
TRHDE	29953	broad.mit.edu	37	12	73046155	73046155	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:73046155A>C	uc001sxa.3	+	15	2624	c.2594A>C	c.(2593-2595)gAt>gCt	p.D865A		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	865					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCACTACTGGATGAGGATGTC	0.383000														60			8		0	0	0.003080	0	0
CCDC42	146849	broad.mit.edu	37	17	8647889	8647889	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:8647889C>T	uc002gln.3	-	0	266	c.39G>A	c.(37-39)gaG>gaA	p.E13E	CCDC42_uc002glo.3_Silent_p.E13E	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	13										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GCCGGAAGTACTCGGCCAGGT	0.607000														50			8		0	0	0.004482	0	0
MGAT2	4247	broad.mit.edu	37	14	50089057	50089057	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:50089057T>C	uc001wwr.3	+	0	1569	c.1071T>C	c.(1069-1071)tgT>tgC	p.C357C	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	357					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTGTATCTTGTCTTCCAAAAT	0.433000														84			15		0	0	0.004007	0	0
AGL	178	broad.mit.edu	37	1	100316674	100316674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:100316674G>A	uc001dsi.1	+	1	476	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	AGL_uc001dsj.1_Missense_Mutation_p.E26K|AGL_uc001dsk.1_Missense_Mutation_p.E26K|AGL_uc001dsl.1_Missense_Mutation_p.E26K|AGL_uc001dsm.1_5'UTR	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	26					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTCAGACTTGAACAAGGTCA	0.348000														51			11		0	0	0.001855	0	0
VPS13B	157680	broad.mit.edu	37	8	100831746	100831746	+	Nonsense_Mutation	SNP	G	T	T	rs143787982		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:100831746G>T	uc003yiv.3	+	47	8914	c.8803G>T	c.(8803-8805)Gaa>Taa	p.E2935*	VPS13B_uc003yiw.3_Nonsense_Mutation_p.E2910*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2935					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATCCTTGACGAATTCTATGG	0.398000														45			12		1.61879e-10	1.77186e-10	0.013537	1	0
NDEL1	81565	broad.mit.edu	37	17	8347657	8347657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:8347657C>T	uc002glj.3	+	1	265	c.68C>T	c.(67-69)tCc>tTc	p.S23F	NDEL1_uc002gli.3_Missense_Mutation_p.S23F	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	23					chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						AAGGAACTTTCCTTGAAGTAT	0.353000														32			10		0	0	0.006214	0	0
EXOSC5	56915	broad.mit.edu	37	19	41893466	41893466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:41893466G>A	uc002oqo.3	-	4	591	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	BCKDHA_uc002oqm.4_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	190					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGCAGCTTCCGTTCCACGCTG	0.582000														13			6		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179584176	179584176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179584176G>A	uc021vsy.1	-	79	20434	c.20209C>T	c.(20209-20211)Cgg>Tgg	p.R6737W	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3398W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7664	Ig-like 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)			GGCACAATCCGATCTATGTGG	0.478000														65			10		0	0	0.008291	0	0
FKBP8	23770	broad.mit.edu	37	19	18649187	18649187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:18649187G>A	uc002njk.1	-	4	721	c.608C>T	c.(607-609)gCt>gTt	p.A203V	FKBP8_uc010xqi.1_Missense_Mutation_p.A232V|FKBP8_uc002njj.1_Missense_Mutation_p.A204V|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	203	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCCGTCCACAGCCGTCTTCAG	0.701000														37			7		0	0	0.001984	0	0
PDE1C	5137	broad.mit.edu	37	7	31918645	31918645	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:31918645A>G	uc003tcm.2	-	3	850	c.389T>C	c.(388-390)aTc>aCc	p.I130T	PDE1C_uc003tcn.1_Missense_Mutation_p.I130T|PDE1C_uc003tco.2_Missense_Mutation_p.I190T|PDE1C_uc003tcr.3_Missense_Mutation_p.I130T|PDE1C_uc003tcs.3_Missense_Mutation_p.I130T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	130					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCGTGAACGATGCTCTTGAA	0.527000														104			24		0	0	0.003954	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426484	6426484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:6426484C>T	uc001qnr.3	+	7	920	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	PLEKHG6_uc001qns.3_Missense_Mutation_p.H258Y|PLEKHG6_uc010sew.2_Missense_Mutation_p.H258Y|PLEKHG6_uc010sex.2_Missense_Mutation_p.H226Y	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	258	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCAGCGGTTCCACCCCTATGT	0.587000														47			9		0	0	0.004482	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447961	96447961	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:96447961G>A	uc001kjv.4	+	2	737	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C19_uc001kjw.4_Silent_p.G137G|CYP2C19_uc009xus.1_Silent_p.G2G|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	137					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGGATGGGGAAGAGGAGCA	0.473000														70			12		0	0	0.001855	0	0
SPTBN5	51332	broad.mit.edu	37	15	42147567	42147567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:42147567C>T	uc001zos.3	-	54	9506	c.9173G>A	c.(9172-9174)aGg>aAg	p.R3058K		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	3093					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCTCCGCCCTCCGCAGCAG	0.692000														41			7		0	0	0.003080	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239944	6239944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:6239944G>A	uc001mck.4	-	7	1680	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	FAM160A2_uc001mcl.4_Missense_Mutation_p.R441C|FAM160A2_uc001mcm.2_Missense_Mutation_p.R441C	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	441					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCACATCACGAACAGCCGGC	0.542000														135			32		0	0	0.013726	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:195701278C>T	uc011btq.1	-	7	1215	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CAGGCCTGCACGACTCTGCGA	0.537000														35			8		0	0	0.001855	0	0
ALOX15B	247	broad.mit.edu	37	17	7942489	7942489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:7942489G>A	uc002gju.3	+	0	132	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	ALOX15B_uc002gjv.3_Missense_Mutation_p.V6I|ALOX15B_uc002gjw.3_Missense_Mutation_p.V6I|ALOX15B_uc010vun.2_Missense_Mutation_p.V6I|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	6	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGAGTTCAGGGTCAGGGTGTC	0.667000														61			11		0	0	0.010729	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536283	31536284	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:31536283_31536284CC>TT	uc003aka.3	-	0	186_187	c.57_58GG>AA	c.(55-60)gggggc>ggAAgc	p.G20S		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	20					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCAGGGGAGCCCCCCAGGGCCA	0.653000														61			10		0	0	0.004672	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208693150	208693150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:208693150G>A	uc002vcl.2	-	7	2669	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	727					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCTCTCGGCGAACACACCTC	0.507000														58			10		0	0	0.008291	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609707	96609707	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:96609707C>T	uc010qnz.2	+	7	1183	c.1183C>T	c.(1183-1185)Cta>Tta	p.L395L	CYP2C19_uc010qny.2_Silent_p.L373L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	395					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CACTTCTGTGCTACATGACAA	0.398000														86			19		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9058282	9058282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9058282C>T	uc002mkp.3	-	2	29368	c.29164G>A	c.(29164-29166)Gaa>Aaa	p.E9722K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9724	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						CTAGTTGTTTCCACAAAGCGA	0.488000														23			4		0	0	0.009096	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	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)				103			34		0	0	0.012213	0	0
ABCA13	154664	broad.mit.edu	37	7	48411914	48411914	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:48411914C>T	uc003toq.2	+	32	10977	c.10953C>T	c.(10951-10953)ttC>ttT	p.F3651F	ABCA13_uc010kys.1_Silent_p.F725F|ABCA13_uc003tos.1_Silent_p.F477F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3651					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTGTTTTCCTCTTTCTCT	0.468000														133			30		0	0	0.013726	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310397	61310397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:61310397G>A	uc002ljf.3	-	2	306	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	SERPINB3_uc002lje.3_Missense_Mutation_p.H74Y|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	74					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.Y73C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGACTCACATGATATGTTGCA	0.408000														25			6		0	0	0.001984	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460392	107460392	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:107460392G>A	uc002tdq.3	-	1	161	c.42C>T	c.(40-42)ttC>ttT	p.F14F	ST6GAL2_uc002tdr.3_Silent_p.F14F|ST6GAL2_uc002tds.3_Silent_p.F14F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	14					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGAATATTCCGAAAAGCATTC	0.512000														53			12		0	0	0.001855	0	0
HYDIN	54768	broad.mit.edu	37	16	71212863	71212863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:71212863C>T	uc002ezr.3	-	3	500	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E117K|HYDIN_uc010vmc.2_Missense_Mutation_p.E134K|HYDIN_uc010vmd.2_Missense_Mutation_p.E144K|HYDIN_uc002ezw.4_Missense_Mutation_p.E134K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	117										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)				AGTGGAACTTCATAGACTTCA	0.393000														105			25		0	0	0.004656	0	0
FAT2	2196	broad.mit.edu	37	5	150887168	150887168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:150887168C>T	uc003lue.4	-	21	12077	c.12064G>A	c.(12064-12066)Gaa>Aaa	p.E4022K	FAT2_uc003lud.4_Missense_Mutation_p.E629K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4022	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTCCATTTCACACCTGCGG	0.552000														16			7		0	0	0.003080	0	0
DSG3	1830	broad.mit.edu	37	18	29046576	29046577	+	Missense_Mutation	DNP	AA	GC	GC			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:29046576_29046577AA>GC	uc002kws.3	+	10	1604_1605	c.1495_1496AA>GC	c.(1495-1497)aaa>GCa	p.K499A		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	499	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTCCTCGAAAAAGATGCAGTT	0.421000														98			25		0	0	0.004672	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204226886	204226886	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:204226886G>A	uc001hau.3	-	8	1436	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PLEKHA6_uc009xaw.1_5'UTR|PLEKHA6_uc009xax.1_5'UTR|PLEKHA6_uc009xay.1_5'UTR|PLEKHA6_uc009xaz.1_5'UTR|PLEKHA6_uc009xba.1_5'UTR|PLEKHA6_uc009xbb.1_5'UTR|PLEKHA6_uc009xbc.1_5'UTR	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	373	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGGAACAGATGCTCTCCGGCC	0.627000														24			7		0	0	0.001984	0	0
SOX5	6660	broad.mit.edu	37	12	23893968	23893968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:23893968G>A	uc001rfw.3	-	4	676	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	SOX5_uc001rfx.3_Missense_Mutation_p.P179S|SOX5_uc001rfy.3_Missense_Mutation_p.P179S|SOX5_uc010siv.2_Missense_Mutation_p.P179S|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.P144S	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	192					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AAGCTCTCGGGAGTCCCTACA	0.418000														35			5		0	0	0.000602	0	0
MGEA5	10724	broad.mit.edu	37	10	103558830	103558830	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:103558830G>A	uc001ktv.2	-	8	2021	c.1578C>T	c.(1576-1578)ccC>ccT	p.P526P	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Silent_p.P473P|MGEA5_uc009xws.2_Silent_p.P473P|MGEA5_uc001ktw.2_Silent_p.P526P|MGEA5_uc009xwt.2_Silent_p.P289P	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	526					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTTTGCATGGGGGCAATGT	0.448000														113			28		0	0	0.007291	0	0
FAM83E	54854	broad.mit.edu	37	19	49104458	49104458	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:49104458A>T	uc002pjn.2	-	4	1410	c.1345T>A	c.(1345-1347)Ttc>Atc	p.F449I		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	449										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCCCACCGAACCGCCTTCGG	0.701000														24			6		0	0	0.001984	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349913	21349913	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:21349913G>A	uc001req.4	+	7	865	c.761G>A	c.(760-762)tGg>tAg	p.W254*		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	254					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.R253P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GATTCTCGATGGGTTGGAGCT	0.358000														67			15		0	0	0.003163	0	0
ZNF445	353274	broad.mit.edu	37	3	44488387	44488387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:44488387G>A	uc003cnf.2	-	7	3124	c.2776C>T	c.(2776-2778)Cgt>Tgt	p.R926C	ZNF445_uc011azv.1_Missense_Mutation_p.R914C|ZNF445_uc011azw.1_Missense_Mutation_p.R926C	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	926					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGCGGGCTACGTTCAGCCTGT	0.498000														80			20		0	0	0.008871	0	0
CUL4A	8451	broad.mit.edu	37	13	113909011	113909011	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:113909011A>G	uc021rmv.1	+	16	1768	c.1757A>G	c.(1756-1758)aAg>aGg	p.K586R	CUL4A_uc021rmu.1_Missense_Mutation_p.K486R|CUL4A_uc010agu.3_Missense_Mutation_p.K447R|CUL4A_uc010tjz.2_Missense_Mutation_p.K265R	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	586					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TTCCAGGGGAAGAAGGAATTC	0.438000														100			15		0	0	0.004990	0	0
FRAS1	80144	broad.mit.edu	37	4	79440574	79440574	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:79440574C>T	uc003hlb.2	+	66	10919	c.10479C>T	c.(10477-10479)tcC>tcT	p.S3493S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3488					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGGGCCTCCTTGGAGCACC	0.532000														183			43		0	0	0.008740	0	0
CD96	10225	broad.mit.edu	37	3	111319612	111319612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:111319612G>A	uc003dxw.3	+	7	1156	c.986G>A	c.(985-987)gGa>gAa	p.G329E	CD96_uc003dxv.3_Missense_Mutation_p.G313E|CD96_uc003dxx.3_Missense_Mutation_p.G313E|CD96_uc010hpy.1_Missense_Mutation_p.G313E	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	329	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						GGCAAAGATGGATTTTTGGAA	0.373000									Opitz Trigonocephaly syndrome					39			7		0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82585599	82585599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:82585599C>T	uc003uhx.2	-	4	4959	c.4670G>A	c.(4669-4671)cGa>cAa	p.R1557Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1557Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1488					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTTGTTTTCGAATGAAGTC	0.418000														72			14		0	0	0.004990	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180898	43180898	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:43180898G>A	uc001uyu.2	+	4	947	c.798G>A	c.(796-798)ggG>ggA	p.G266G	TNFSF11_uc001uyt.2_Silent_p.G193G	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	266					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	p.G266G(2)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATTGGTCAGGGAATTCTGAAT	0.423000														68			12		0	0	0.013537	0	0
OAS3	4940	broad.mit.edu	37	12	113405251	113405251	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:113405251C>T	uc001tug.3	+	12	2805	c.2718C>T	c.(2716-2718)agC>agT	p.S906S		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	906	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCAGGCCCAGCTCTCAAGTCT	0.572000														10			3		0	0	0.004672	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928246	31928246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31928246C>T	uc003nyn.1	+	4	781	c.392C>T	c.(391-393)tCc>tTc	p.S131F	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	131						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCTACAACCTCCTTGTCTCTT	0.562000														374			46		0	0	0.014410	0	0
TREML2	79865	broad.mit.edu	37	6	41165887	41165887	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:41165887G>A	uc010jxm.1	-	1	515	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	112	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)					AGGGGTACAGGATCCCAGAGG	0.622000														32			7		0	0	0.001984	0	0
PGBD1	84547	broad.mit.edu	37	6	28269287	28269287	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:28269287C>T	uc003nky.3	+	6	2076	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	PGBD1_uc003nkz.3_Silent_p.C552C	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	552					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGTGTGAATGCTTTGATAGTG	0.363000														60			21		0	0	0.012319	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325624	79325624	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:79325624G>A	uc010mpk.3	-	7	1690	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	PRUNE2_uc022bih.1_Silent_p.F344F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	522					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTGTTGGGGAAGAAGTCAT	0.507000														16			4		0	0	0.000602	0	0
ALK	238	broad.mit.edu	37	2	29450451	29450451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:29450451G>A	uc002rmy.3	-	16	3855	c.2903C>T	c.(2902-2904)cCa>cTa	p.P968L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	968					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P968Q(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTTTAAAGCTGGGGTGTACAG	0.517000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					107			30		0	0	0.010818	0	0
TMEM52	339456	broad.mit.edu	37	1	1849479	1849479	+	Missense_Mutation	SNP	C	T	T	rs141967299		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:1849479C>T	uc001aij.2	-	4	508	c.472G>A	c.(472-474)Gat>Aat	p.D158N	TMEM52_uc001aii.2_Missense_Mutation_p.D143N	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	158						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACAGCTTCATCGTAGGAGGGT	0.632000														127			27		0	0	0.010818	0	0
CLDN1	9076	broad.mit.edu	37	3	190030677	190030677	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:190030677C>T	uc003fsh.3	-	1	612	c.372G>A	c.(370-372)gcG>gcA	p.A124A		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GAAGAAATATCGCACCCCCAA	0.448000														105			34		0	0	0.012213	0	0
DSC2	1824	broad.mit.edu	37	18	28671044	28671044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:28671044G>A	uc002kwl.4	-	3	875	c.421C>T	c.(421-423)Cct>Tct	p.P141S	DSC2_uc002kwk.4_Missense_Mutation_p.P141S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	141	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATCGAACAAGGAATTGGAGCC	0.398000														19			4		0	0	0.009096	0	0
ARMC4	55130	broad.mit.edu	37	10	28149631	28149631	+	Missense_Mutation	SNP	C	T	T	rs146309511		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:28149631C>T	uc009xky.3	-	18	3042	c.2944G>A	c.(2944-2946)Gcg>Acg	p.A982T	ARMC4_uc010qds.2_Missense_Mutation_p.A507T|ARMC4_uc010qdt.2_Missense_Mutation_p.A674T|ARMC4_uc001itz.3_Missense_Mutation_p.A982T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	982							binding	p.A982V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGAGCTGTCGCCCGATGCACG	0.498000														70			22		0	0	0.002780	0	0
MADD	8567	broad.mit.edu	37	11	47350616	47350616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:47350616C>T	uc001ner.1	+	35	5050	c.4859C>T	c.(4858-4860)tCc>tTc	p.S1620F	MADD_uc001neq.2_Missense_Mutation_p.S1561F|MADD_uc001nev.1_3'UTR|MADD_uc001nes.1_Missense_Mutation_p.S1538F|MADD_uc001net.1_Missense_Mutation_p.S1581F|MADD_uc009yln.1_Missense_Mutation_p.S1514F|MADD_uc001neu.1_Missense_Mutation_p.S1518F|MADD_uc001nez.2_Missense_Mutation_p.S1517F|MADD_uc001new.2_Missense_Mutation_p.S1560F|MADD_uc001nex.2_3'UTR	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1620					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity	p.S1620F(4)|p.S1620S(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATCTGCTACTCCGTATTATGT	0.537000														128			57		0	0	0.014410	0	0
FBXO24	26261	broad.mit.edu	37	7	100187601	100187601	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:100187601T>G	uc011kjz.1	+	2	222	c.154_splice	c.e2-1	p.V52_splice	FBXO24_uc010lha.1_Splice_Site|FBXO24_uc003uvl.1_Splice_Site_p.V14_splice|FBXO24_uc003uvm.1_Splice_Site_p.V14_splice|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Splice_Site_p.V2_splice	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	14	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTGGGTAGGTGAAGAGAAGC	0.557000														89			17		0	0	0.002780	0	0
RFX6	222546	broad.mit.edu	37	6	117240361	117240361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:117240361G>A	uc003pxm.3	+	10	1147	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	362					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						TTCATCCTTGGAAAACTTGCC	0.358000														36			10		0	0	0.006214	0	0
DGKE	8526	broad.mit.edu	37	17	54939586	54939586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:54939586C>T	uc002iur.3	+	10	1678	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	DGKE_uc002ius.1_Nonsense_Mutation_p.R500*	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	500					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.R500*(2)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TAATCCTTTTCGAATAGGACA	0.393000														18			9		0	0	0.010729	0	0
TLL1	7092	broad.mit.edu	37	4	166913964	166913964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:166913964G>A	uc003irh.2	+	2	936	c.289G>A	c.(289-291)Gga>Aga	p.G97R	TLL1_uc021xud.1_Missense_Mutation_p.G97R|TLL1_uc011cjn.2_Missense_Mutation_p.G97R|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	97					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGTGGACTTGGAGACCATGC	0.363000														56			14		0	0	0.002450	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	C	C	rs151151026	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000														24			3		0	0	0.004672	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600733	147600733	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:147600733C>T	uc003weu.2	+	13	2691	c.2175C>T	c.(2173-2175)atC>atT	p.I725I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	725	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCTGGAATCCAGAAATGTG	0.532000										HNSCC(39;0.1)				22			5		0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389474	140389474	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140389474G>A	uc003lii.3	+	3	3581	c.2976G>A	c.(2974-2976)caG>caA	p.Q992Q	PCDHAC2_uc003lha.2_Silent_p.Q671Q|PCDHAC2_uc003lhb.2_Silent_p.Q935Q|PCDHAC2_uc003lhd.2_Silent_p.Q933Q|PCDHAC2_uc003lhf.2_Silent_p.Q935Q|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Silent_p.Q932Q|PCDHAC2_uc003lhl.2_Silent_p.Q921Q|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Silent_p.Q935Q|PCDHAC2_uc003lhn.2_Silent_p.Q671Q|PCDHAC2_uc003lhq.2_Silent_p.Q922Q|PCDHAC2_uc003lhs.2_Silent_p.Q935Q|PCDHAC2_uc003lhu.2_Silent_p.Q935Q|PCDHAC2_uc003lhw.2_Silent_p.Q670Q|PCDHAC2_uc003lhx.2_Silent_p.Q933Q|PCDHAC2_uc003lia.2_Silent_p.Q934Q|PCDHAC2_uc003lic.2_Silent_p.Q926Q|PCDHAC2_uc003lif.2_Silent_p.Q935Q|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Silent_p.Q948Q	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	992					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGACCCAGGAGAAAAAAG	0.413000														60			16		0	0	0.004990	0	0
ZNF221	7638	broad.mit.edu	37	19	44471067	44471067	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:44471067C>T	uc002oxx.2	+	5	1741	c.1413C>T	c.(1411-1413)gtC>gtT	p.V471V	ZNF221_uc010ejb.1_Silent_p.V471V|ZNF221_uc010xws.1_Silent_p.V471V	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ACCAGAGGGTCCACACGGGTG	0.473000														39			7		0	0	0.003080	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709827	26709827	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:26709827C>T	uc003acb.3	+	8	2170	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	SEZ6L_uc003acd.3_Silent_p.I658I|SEZ6L_uc011akd.2_Silent_p.I658I|SEZ6L_uc003ace.3_Silent_p.I658I|SEZ6L_uc011akc.2_Silent_p.I658I|SEZ6L_uc003acc.3_Silent_p.I658I|SEZ6L_uc003acf.1_Silent_p.I431I|SEZ6L_uc010gvc.1_Silent_p.I431I	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	658	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCTGGAAGATCCACGTGGGAG	0.493000														90			19		0	0	0.006122	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520234	159520234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:159520234G>A	uc011ded.2	-	1	1480	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	PWWP2A_uc003lxv.4_Missense_Mutation_p.R475C|PWWP2A_uc011dec.2_Missense_Mutation_p.R475C	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	475										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTTTAAACGAACCCGGGGT	0.458000														39			6		0	0	0.004482	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235774	37235774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:37235774G>A	uc002rpp.1	-	27	4598	c.4502C>T	c.(4501-4503)tCt>tTt	p.S1501F	HEATR5B_uc010ezy.1_Missense_Mutation_p.S85F|HEATR5B_uc002rpq.4_Missense_Mutation_p.S85F	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1501							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAGCTGACTAGAAAATTCGGC	0.378000														34			5		0	0	0.000602	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160442	9160442	+	RNA	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrY:9160442A>C	uc004frl.1	-	0		c.42T>G								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TTGAGGCCACAAATGAAAAGC	0.348000														40			6		0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3227829	3227829	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:3227829G>A	uc004crg.4	-	6	8572	c.8415C>T	c.(8413-8415)gcC>gcT	p.A2805A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2805	Ig-like C2-type 12.					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)				TGTAGAAGCCGGCATCTCTCT	0.488000														15			8		0	0	0.004482	0	0
QRICH2	84074	broad.mit.edu	37	17	74288612	74288612	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:74288612T>C	uc002jrd.1	-	3	1878	c.1698A>G	c.(1696-1698)caA>caG	p.Q566Q	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	566	Gln-rich.						protein binding	p.V565V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTACTCCAGGTTGGACCAAAC	0.532000														51			11		0	0	0.010729	0	0
SON	6651	broad.mit.edu	37	21	34923547	34923547	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:34923547G>A	uc002yse.1	+	2	2059	c.2010G>A	c.(2008-2010)tcG>tcA	p.S670S	SON_uc002ysb.1_Silent_p.S670S|SON_uc002ysc.3_Silent_p.S670S|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.S316S|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	670					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGACCGTGTCGCAGTCCCTGG	0.572000														48			13		0	0	0.013537	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	38876	38876	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrGL000218.1:38876T>G	uc011mfn.2	-	4	676	c.587A>C	c.(586-588)cAc>cCc	p.H196P	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		AGGATGGGGGTGTAGCAAGTA	0.562000														4			3		0	0	0.000602	0	0
OR5A1	219982	broad.mit.edu	37	11	59211024	59211024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:59211024C>T	uc001nnx.1	+	0	383	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CGATATGCAGCCATCTCCAGC	0.537000														221			20		0	0	0.012319	0	0
HCP5	10866	broad.mit.edu	37	6	31431687	31431687	+	RNA	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31431687C>T	uc003ntl.3	+	1		c.640C>T			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						catgcctcctcctggggatca	0.582000														95			12		0	0	0.010729	0	0
PDE6A	5145	broad.mit.edu	37	5	149242808	149242808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:149242808C>T	uc003lrg.4	-	20	2500	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	PDE6A_uc021yfs.1_Missense_Mutation_p.E713K	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	794					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGGGTGATCTCCTCGTGGAAA	0.557000														60			21		0	0	0.008871	0	0
INPPL1	3636	broad.mit.edu	37	11	71946430	71946430	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:71946430A>T	uc001osf.3	+	22	2741	c.2594A>T	c.(2593-2595)aAt>aTt	p.N865I	INPPL1_uc001osg.3_Missense_Mutation_p.N623I	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	865					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.G864D(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGACAGGCAATATCAGAGGC	0.617000														217			35		0	0	0.006230	0	0
DDX11L11	0	broad.mit.edu	37	12	92119	92119	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:92119T>C	uc010sdi.1	-	1	219	c.191A>G	c.(190-192)cAc>cGc	p.H64R	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CGCCAGGCAGTGGTGCAGCTG	0.592000														18			6		0	0	0.001168	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417521	150417521	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:150417521C>T	uc003whq.3	+	2	569	c.429C>T	c.(427-429)gtC>gtT	p.V143V	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGGAGGACGTCCTAAAATGGA	0.647000														62			18		0	0	0.004990	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023298	93023298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:93023298C>T	uc022axs.1	-	4	854	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E137K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E137K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E127K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E164K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E164K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E137K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E175K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E164K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E144K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E164K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E127K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E127K|RUNX1T1_uc003yfg.2_Missense_Mutation_p.E127K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	164					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAATGAAATTCTTCAATTGTC	0.323000														54			8		0	0	0.006214	0	0
SCN5A	6331	broad.mit.edu	37	3	38674787	38674787	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:38674787G>A	uc021wvo.1	-	0	64	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SCN5A_uc021wvk.1_Silent_p.F4F|SCN5A_uc021wvl.1_Silent_p.F4F|SCN5A_uc021wvm.1_Silent_p.F4F|SCN5A_uc021wvn.1_Silent_p.F4F|SCN5A_uc021wvp.1_Silent_p.F4F|SCN5A_uc021wvq.1_Silent_p.F4F|SCN5A_uc021wvr.1_Silent_p.F4F|SCN5A_uc021wvs.1_Silent_p.F4F|SCN5A_uc021wvt.1_Silent_p.F4F|SCN5A_uc021wvu.1_Silent_p.F4F|SCN5A_uc021wvv.1_Silent_p.F4F|SCN5A_uc021wvx.1_Missense_Mutation_p.S7F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	4					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)	GAGGTAATAGGAAGTTTGCCA	0.587000														48			13		0	0	0.002450	0	0
PCM1	5108	broad.mit.edu	37	8	17830107	17830107	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:17830107A>G	uc022asj.1	+	21	3993	c.3971A>G	c.(3970-3972)cAg>cGg	p.Q1324R	PCM1_uc003wyi.4_Missense_Mutation_p.Q1285R|PCM1_uc011kyh.2_Missense_Mutation_p.Q1285R|PCM1_uc003wyj.4_Missense_Mutation_p.Q1286R|PCM1_uc011kyi.2_Missense_Mutation_p.Q147R|PCM1_uc011kyj.2_Missense_Mutation_p.Q22R|PCM1_uc003wyk.4_Missense_Mutation_p.Q22R	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1285	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCGTCTGCACAGGCCAGCCTG	0.398000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									52			9		0	0	0.004482	0	0
SPTB	6710	broad.mit.edu	37	14	65260425	65260425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:65260425C>T	uc001xht.3	-	12	2007	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	SPTB_uc001xhr.3_Nonsense_Mutation_p.W652*|SPTB_uc001xhs.3_Nonsense_Mutation_p.W652*|SPTB_uc001xhu.3_Nonsense_Mutation_p.W652*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	652					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTCCTTGATCCAGCTCTCAG	0.537000														45			10		0	0	0.006214	0	0
MYH13	8735	broad.mit.edu	37	17	10233820	10233820	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:10233820G>A	uc002gmk.1	-	20	2409	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	773	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAAGTCCCAGGAGCCCAGCTT	0.557000														5			3		0	0	0.009096	0	0
SORCS3	22986	broad.mit.edu	37	10	106960892	106960892	+	Silent	SNP	C	T	T	rs150188088		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:106960892C>T	uc001kyi.1	+	15	2369	c.2142C>T	c.(2140-2142)gtC>gtT	p.V714V	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	714						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCTTGTGTCATGGGAGAAA	0.463000														28			6		0	0	0.003080	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015588	129015588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:129015588C>T	uc003kvb.1	+	16	2620	c.2620C>T	c.(2620-2622)Cct>Tct	p.P874S	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	874	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCCAAAGGTCCTACTACAGC	0.443000														54			7		0	0	0.004482	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72492039	72492039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:72492039C>T	uc001jrg.3	+	6	1141	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	ADAMTS14_uc001jrh.3_Missense_Mutation_p.P378S|ADAMTS14_uc001jri.1_5'Flank	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	378	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATGTGTCACCCCCTGAGGAG	0.592000														26			7		0	0	0.003080	0	0
LYG2	254773	broad.mit.edu	37	2	99860574	99860574	+	Silent	SNP	G	A	A	rs140282833		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:99860574G>A	uc002szw.1	-	4	521	c.408C>T	c.(406-408)gtC>gtT	p.V136V	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Silent_p.V136V|LYG2_uc002szx.1_Silent_p.V136V	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	136					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CCCAGGCACCGACAGGGTGGT	0.428000														36			10		0	0	0.006214	0	0
ABHD4	63874	broad.mit.edu	37	14	23078744	23078744	+	Silent	SNP	C	T	T	rs150961383	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:23078744C>T	uc001wgm.3	+	5	936	c.867C>T	c.(865-867)tcC>tcT	p.S289S	ABHD4_uc010tna.1_3'UTR|ABHD4_uc010tnb.2_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	289					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TCTACGGGTCCGACACCTGGA	0.517000														51			19		0	0	0.007413	0	0
VARS	7407	broad.mit.edu	37	6	31753402	31753402	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31753402G>A	uc003nxe.3	-	8	1632	c.1209C>T	c.(1207-1209)agC>agT	p.S403S	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	403					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTGGTGCCGGCTCAGTCCCT	0.622000														233			44		0	0	0.014410	0	0
PSG4	5672	broad.mit.edu	37	19	43411093	43411093	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:43411093G>A	uc002ovj.1	-	4	1320	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.S247S|PSG4_uc002ovg.1_Silent_p.S407S	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	408	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGACTATCATGGATTTGGAGA	0.443000														176			56		0	0	0.014410	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47252044	47252044	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:47252044G>A	uc003oyv.3	-	2	1306	c.873C>T	c.(871-873)acC>acT	p.T291T		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	291					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.T291I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGTTTGGGAGGGTCTTGTTCA	0.567000														160			21		0	0	0.012319	0	0
CSMD1	64478	broad.mit.edu	37	8	3045479	3045479	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:3045479C>T	uc022aqr.1	-	35	5922	c.5532G>A	c.(5530-5532)gtG>gtA	p.V1844V	CSMD1_uc011kwj.2_Silent_p.V1237V|CSMD1_uc003wqe.3_Silent_p.V1001V|CSMD1_uc010lrg.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1845	CUB 11.			IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948).		integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAAACTGATCACTTGGATCT	0.433000														26			5		0	0	0.000602	0	0
MRPL10	124995	broad.mit.edu	37	17	45901815	45901815	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:45901815A>G	uc002ily.3	-	5	670	c.572T>C	c.(571-573)aTt>aCt	p.I191T	OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc002ilz.3_Missense_Mutation_p.I181T|MRPL10_uc010wky.2_Missense_Mutation_p.I142T	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	181					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGTGTCATCAATGCAGCCACC	0.537000														56			7		0	0	0.006214	0	0
CDC34	997	broad.mit.edu	37	19	535879	535879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:535879G>A	uc002lov.3	+	1	419	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	74					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	p.A74A(1)		large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCCACCAGCCTTTCGGTT	0.647000														229			68		0	0	0.014410	0	0
OR2A2	442361	broad.mit.edu	37	7	143806795	143806795	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:143806795G>A	uc011ktz.2	+	0	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G40E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTGCTGGGGAATGGGGTCA	0.512000														120			22		0	0	0.004656	0	0
FUT9	10690	broad.mit.edu	37	6	96651190	96651190	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:96651190C>T	uc003pop.4	+	2	500	c.159C>T	c.(157-159)ttC>ttT	p.F53F	FUT9_uc021zcw.1_Silent_p.F53F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	53					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.N52N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGAAAAACTTCTTTTCCACCA	0.418000														53			11		0	0	0.010729	0	0
PLAC1	10761	broad.mit.edu	37	X	133700464	133700464	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:133700464C>T	uc004exo.1	-	2	535	c.249G>A	c.(247-249)agG>agA	p.R83R	PLAC1_uc004exp.1_Silent_p.R83R|PLAC1_uc022cei.1_Silent_p.R83R	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	Homo sapiens placenta-specific 1 (PLAC1), mRNA.	83					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CAGCTTTGGCCCTGATGCCAC	0.502000														48			38		0	0	0.006999	0	0
CR1	1378	broad.mit.edu	37	1	207753681	207753681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:207753681C>T	uc001hfy.3	+	21	3823	c.3683C>T	c.(3682-3684)cCt>cTt	p.P1228L	CR1_uc009xcl.1_Missense_Mutation_p.P778L|CR1_uc001hfx.3_Missense_Mutation_p.P1678L|CR1_uc021pij.1_Missense_Mutation_p.P1228L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1228	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.F1228L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCTGTGAGCCTGGCTATGAC	0.582000														107			29		0	0	0.008361	0	0
ITIH2	3698	broad.mit.edu	37	10	7786863	7786863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:7786863G>A	uc001ijs.3	+	18	2680	c.2518G>A	c.(2518-2520)Gac>Aac	p.D840N		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	840					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						CGTCAATGTTGACTTTCTGGG	0.433000														58			15		0	0	0.006122	0	0
CSPP1	79848	broad.mit.edu	37	8	68107760	68107760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:68107760G>A	uc003xxi.3	+	30	3734	c.3703G>A	c.(3703-3705)Gag>Aag	p.E1235K	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.3_Missense_Mutation_p.E1200K|CSPP1_uc003xxk.3_Missense_Mutation_p.E855K|CSPP1_uc010lyw.3_3'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	1235						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCTGAACCAGGAGCAGCAGCA	0.527000														52			10		0	0	0.006214	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456284	5456284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:5456284C>T	uc002mca.4	+	0	859	c.782C>T	c.(781-783)aCc>aTc	p.T261I		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	261						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGGGCTGTACCCTGGCCCTG	0.667000														61			14		0	0	0.001855	0	0
KATNB1	10300	broad.mit.edu	37	16	57778395	57778395	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:57778395C>T	uc002eml.1	+	3	635	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	87	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CGGGCTCCATCCGTGTCTGGG	0.622000														84			10		0	0	0.008291	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351549	42351549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:42351549C>T	uc010xwe.2	+	1	136	c.53C>T	c.(52-54)cCc>cTc	p.P18L	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.P18L	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	18					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GACTCTGCCCCCTGGGATGAG	0.632000														106			19		0	0	0.014323	0	0
PDXDC1	23042	broad.mit.edu	37	16	15110009	15110009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:15110009G>A	uc002dda.4	+	8	975	c.751G>A	c.(751-753)Gac>Aac	p.D251N	PDXDC1_uc010uzl.2_Missense_Mutation_p.D236N|PDXDC1_uc010uzm.2_Missense_Mutation_p.D160N|PDXDC1_uc002dcz.3_Missense_Mutation_p.D228N|PDXDC1_uc002ddb.4_Missense_Mutation_p.D224N|PDXDC1_uc010uzn.2_Missense_Mutation_p.D223N|PDXDC1_uc002ddc.3_Missense_Mutation_p.D251N	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	251					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGGACACACAGACAAGATTGG	0.463000														83			5		0	0	0.006214	0	0
NUP210	23225	broad.mit.edu	37	3	13368919	13368919	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:13368919G>A	uc003bxv.1	-	31	4388	c.4305C>T	c.(4303-4305)atC>atT	p.I1435I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1435					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCCCTTCCCGATCTGCACAA	0.592000														10			6		0	0	0.001168	0	0
TOX4	9878	broad.mit.edu	37	14	21960465	21960465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:21960465G>A	uc001waz.3	+	5	924	c.821G>A	c.(820-822)aGg>aAg	p.R274K	TOX4_uc001way.3_Missense_Mutation_p.R144K|TOX4_uc010tlu.2_Missense_Mutation_p.R251K|TOX4_uc010tlv.2_Missense_Mutation_p.R144K	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	274						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GTATATAAGAGGAAAACTGAG	0.358000														50			15		0	0	0.003163	0	0
IMPG1	3617	broad.mit.edu	37	6	76657183	76657183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:76657183C>T	uc003pik.1	-	13	2022	c.1892G>A	c.(1891-1893)gGg>gAg	p.G631E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	631	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATCACACTCCCGTTTCTGAA	0.413000														21			3		0	0	0.004672	0	0
ITGA3	3675	broad.mit.edu	37	17	48141897	48141897	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:48141897C>A	uc010dbm.3	+	2	804	c.340C>A	c.(340-342)Cct>Act	p.P114T	ITGA3_uc010dbl.3_Missense_Mutation_p.P114T	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	114					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CACAGATGACCCTGGCCATCA	0.587000														30			7		5.4927e-09	6.00633e-09	0.004482	1	0
CSMD1	64478	broad.mit.edu	37	8	3265455	3265455	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:3265455G>A	uc022aqr.1	-	13	2427	c.2037C>T	c.(2035-2037)tcC>tcT	p.S679S	CSMD1_uc011kwj.2_Silent_p.S72S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	680	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCAGTAGTGGAATGGTCAG	0.458000														20			5		0	0	0.000602	0	0
GLT6D1	360203	broad.mit.edu	37	9	138518016	138518016	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:138518016G>A	uc010nbd.1	-	3	410	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	52					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGACAGGAGCGAGCCAGTCTG	0.532000														42			12		0	0	0.001855	0	0
ANO7	50636	broad.mit.edu	37	2	242139598	242139598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:242139598C>T	uc002wax.2	+	5	777	c.674C>T	c.(673-675)cCc>cTc	p.P225L		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	225						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GACGTACCCCCCGAGTACTAC	0.622000														23			10		0	0	0.010729	0	0
PSG3	5671	broad.mit.edu	37	19	43234162	43234162	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:43234162C>T	uc002oue.3	-	3	888	c.756G>A	c.(754-756)agG>agA	p.R252R	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.	252	Ig-like C2-type 2.				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)				CCTTATTCTCCCTGGGGTTTA	0.502000														169			32		0	0	0.014410	0	0
LTA	4049	broad.mit.edu	37	6	31541416	31541416	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31541416C>T	uc011dnu.1	+	3	777	c.564C>T	c.(562-564)atC>atT	p.I188I	LTA_uc003nue.1_Silent_p.I188I|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Missense_Mutation_p.P98S|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	188					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CAGATGGCATCCCCCACCTAG	0.517000														106			28		0	0	0.004878	0	0
WDR81	124997	broad.mit.edu	37	17	1631593	1631593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:1631593A>G	uc002ftj.2	+	0	3469	c.3340A>G	c.(3340-3342)Acc>Gcc	p.T1114A	WDR81_uc002fth.2_Missense_Mutation_p.T63A|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAAGAGCAGCACCAGCGAGAC	0.642000														76			14		0	0	0.004007	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604713	62604713	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:62604713G>C	uc003peg.2	-	5	884	c.637C>G	c.(637-639)Ccc>Gcc	p.P213A		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	213	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGTGGTGGGGGAGGAGGAATG	0.547000														53			5		0	0	0.001168	0	0
SNAP25	6616	broad.mit.edu	37	20	10273890	10273890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:10273890G>A	uc002wnq.2	+	4	457	c.245G>A	c.(244-246)gGa>gAa	p.G82E	SNAP25_uc002wnr.2_Intron|SNAP25_uc002wns.2_Missense_Mutation_p.G19E|SNAP25_uc010gca.2_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	82					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACGGACCTAGGAAAATTCTGC	0.458000														47			12		0	0	0.013537	0	0
GPR98	84059	broad.mit.edu	37	5	89990217	89990217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:89990217G>A	uc003kju.3	+	32	7740	c.7644G>A	c.(7642-7644)atG>atA	p.M2548I	GPR98_uc003kjt.3_Missense_Mutation_p.M254I|GPR98_uc003kjv.3_Missense_Mutation_p.M148I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCACCTCATGAACATTTCAG	0.393000														95			16		0	0	0.004007	0	0
CHMP7	91782	broad.mit.edu	37	8	23117739	23117739	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:23117739C>A	uc003xdc.2	+	9	1851	c.1203C>A	c.(1201-1203)aaC>aaA	p.N401K	CHMP7_uc003xdd.2_Missense_Mutation_p.N291K|CHMP7_uc003xde.2_Missense_Mutation_p.T239N	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	401					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCCTGACAACCCCCGCAATA	0.458000														75			18		0.000566183	0.000613856	0.004990	1	0
CACNA1I	8911	broad.mit.edu	37	22	40037035	40037035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:40037035G>A	uc003ayc.3	+	5	904	c.904G>A	c.(904-906)Gac>Aac	p.D302N	CACNA1I_uc003ayd.3_Missense_Mutation_p.D302N|CACNA1I_uc003aye.3_Missense_Mutation_p.D217N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D217N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	302					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.D302V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CGACGTCTACGACTTTGGGGC	0.632000														68			22		0	0	0.003954	0	0
BMPER	168667	broad.mit.edu	37	7	34118710	34118710	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:34118710G>A	uc011kap.2	+	12	1694	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	440	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.R439C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCGTGCGCTGGAACGGCTCGC	0.667000														62			18		0	0	0.012319	0	0
ALPK2	115701	broad.mit.edu	37	18	56184167	56184167	+	Silent	SNP	G	A	A	rs61732436		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:56184167G>A	uc002lhj.4	-	8	6127	c.5913C>T	c.(5911-5913)atC>atT	p.I1971I		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1971	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGTTCCTTTGGATGAGCTCAT	0.502000														133			25		0	0	0.006320	0	0
CAPN6	827	broad.mit.edu	37	X	110494857	110494857	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:110494857G>A	uc004epc.2	-	5	1004	c.813C>T	c.(811-813)gtC>gtT	p.V271V	CAPN6_uc011msu.2_Silent_p.V16V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	271	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAGCACTGAAGACTTCCACAA	0.478000														128			77		0	0	0.014410	0	0
LPPR1	54886	broad.mit.edu	37	9	104079760	104079760	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:104079760G>A	uc004bbb.3	+	6	1326	c.927G>A	c.(925-927)ctG>ctA	p.L309L	LPPR1_uc011lvi.2_Silent_p.L285L|LPPR1_uc004bbc.3_Silent_p.L309L|LPPR1_uc010mtc.3_Silent_p.L293L	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	309						integral to membrane	catalytic activity										AAAGCCCTCTGGAAACCTTAA	0.458000														126			29		0	0	0.008361	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703888	7703888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:7703888C>T	uc002cys.2	+	11	1817	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	RBFOX1_uc010buf.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyr.1_Missense_Mutation_p.R276C|RBFOX1_uc002cyt.2_Missense_Mutation_p.R250C|RBFOX1_uc010uxz.1_Missense_Mutation_p.R320C|RBFOX1_uc010uya.1_Missense_Mutation_p.R234C|RBFOX1_uc002cyv.1_Missense_Mutation_p.R277C|RBFOX1_uc010uyb.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyw.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyy.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyx.2_Missense_Mutation_p.R297C|RBFOX1_uc010uyc.1_Missense_Mutation_p.R270C	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	277					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGCCGCGGTCGCACCGTGTA	0.731000														40			9		0	0	0.004482	0	0
TRPM6	140803	broad.mit.edu	37	9	77376996	77376996	+	Missense_Mutation	SNP	G	A	A	rs141526694	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:77376996G>A	uc004ajl.1	-	25	4829	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_uc004ajk.1_Missense_Mutation_p.R1526C|TRPM6_uc022bib.1_Missense_Mutation_p.R1526C|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R487C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1531					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						CTGTATCTGCGGAGAGGATTG	0.423000														57			17		0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141760126	141760126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141760126C>T	uc003vwy.3	+	33	4129	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1359	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCTGATTTTCCTGATGTTGT	0.438000														36			7		0	0	0.001984	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589876	140589876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140589876C>T	uc003liz.3	+	0	1586	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	PCDHB12_uc011dak.2_Missense_Mutation_p.P129L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	466	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P466P(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAACAGCCCCGCCCTGCAC	0.637000														84			12		0	0	0.002450	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160425	9160425	+	RNA	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrY:9160425C>T	uc004frl.1	-	0		c.59G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TCTCATTGGTCTCTCTATTGA	0.383000														37			5		0	0	0.000602	0	0
CLDN4	1364	broad.mit.edu	37	7	73245833	73245833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:73245833G>A	uc003tzi.4	+	0	641	c.302G>A	c.(301-303)gGg>gAg	p.G101E	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	101					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TCCGTGGTGGGGGGCAAGTGT	0.642000														48			14		0	0	0.001855	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6948886	6948886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrY:6948886G>A	uc004frb.3	+	13	1716	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	TBL1Y_uc004frc.3_Missense_Mutation_p.G357R|TBL1Y_uc004frd.3_Missense_Mutation_p.G357R|TBL1Y_uc011nap.2_Missense_Mutation_p.G199R	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	357					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						AACCTTCCAGGGACACACAGT	0.488000														9			11		0	0	0.010729	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012148	160012148	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:160012148A>G	uc001fuw.2	-	1	415	c.175T>C	c.(175-177)Ttc>Ctc	p.F59L		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	59						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCAATGAAGGTTGTCCAC	0.547000														115			24		0	0	0.003954	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413501	61413501	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61413501A>G	uc010qig.1	-	4	1732	c.1283T>C	c.(1282-1284)tTa>tCa	p.L428S		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	428					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCATGGGCTAATTTTTCAAT	0.403000														36			12		0	0	0.013537	0	0
PCDH15	65217	broad.mit.edu	37	10	55626446	55626446	+	Missense_Mutation	SNP	T	C	C	rs61731381	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:55626446T>C	uc010qhy.1	-	27	4083	c.3688A>G	c.(3688-3690)Act>Gct	p.T1230A	PCDH15_uc010qhq.2_Missense_Mutation_p.T1230A|PCDH15_uc010qhr.2_Missense_Mutation_p.T1225A|PCDH15_uc021pqv.1_Missense_Mutation_p.T1225A|PCDH15_uc021pqw.1_Missense_Mutation_p.T1237A|PCDH15_uc010qht.2_Missense_Mutation_p.T1232A|PCDH15_uc021pqx.1_Missense_Mutation_p.T1225A|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.T1225A|PCDH15_uc021pqz.1_Missense_Mutation_p.T1203A|PCDH15_uc010qhv.1_Missense_Mutation_p.T1225A|PCDH15_uc010qhw.1_Missense_Mutation_p.T1188A|PCDH15_uc010qhx.1_Missense_Mutation_p.T1154A|PCDH15_uc010qhz.1_Missense_Mutation_p.T1225A|PCDH15_uc010qia.1_Missense_Mutation_p.T1203A|PCDH15_uc001jju.1_Missense_Mutation_p.T1225A|PCDH15_uc010qib.1_Missense_Mutation_p.T1203A	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1225	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGTCGTCAGTTGCAATAACT	0.413000										HNSCC(58;0.16)				33			10		0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61834088	61834088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:61834088G>A	uc001jky.3	-	36	6889	c.6551C>T	c.(6550-6552)cCc>cTc	p.P2184L	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.	2184					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						TTGGGTCTGGGGAACATCCCC	0.448000														108			20		0	0	0.007413	0	0
PLXNA1	5361	broad.mit.edu	37	3	126749212	126749212	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:126749212C>T	uc003ejg.3	+	27	5188	c.5188C>T	c.(5188-5190)Cag>Tag	p.Q1730*	PLXNA1_uc003ejh.3_Nonsense_Mutation_p.Q375*	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1730					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGACAAGCACCAGATCCACGA	0.622000														89			15		0	0	0.002450	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433848	69433848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:69433848C>T	uc021xov.1	-	0	398	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	119					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E119K(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCAGAATATTCCCAACACAAT	0.294000														53			18		0	0	0.008871	0	0
CNGB3	54714	broad.mit.edu	37	8	87755845	87755845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:87755845G>A	uc003ydx.3	-	0	59	c.11C>T	c.(10-12)tCg>tTg	p.S4L		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	4					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTTGTCAGCGATTTAAACAT	0.393000														49			12		0	0	0.003163	0	0
FCAR	2204	broad.mit.edu	37	19	55396759	55396759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55396759G>A	uc002qhr.1	+	2	380	c.183G>A	c.(181-183)atG>atA	p.M61I	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.M61I|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.M34I|FCAR_uc010esi.1_Missense_Mutation_p.M34I|FCAR_uc002qhu.1_Missense_Mutation_p.M61I|FCAR_uc002qhv.1_Missense_Mutation_p.M61I|FCAR_uc002qhw.1_Missense_Mutation_p.M49I|FCAR_uc002qhx.1_Missense_Mutation_p.M49I|FCAR_uc002qhy.1_Missense_Mutation_p.M49I|FCAR_uc002qhz.1_Missense_Mutation_p.M49I|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	61	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.M61I(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCAGCTGATGATCATAAAAA	0.468000														60			14		0	0	0.002450	0	0
ADAP2	55803	broad.mit.edu	37	17	29283298	29283298	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:29283298G>T	uc010csk.3	+	9	1219	c.940G>T	c.(940-942)Gag>Tag	p.E314*	ADAP2_uc002hfy.3_Nonsense_Mutation_p.E307*|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Nonsense_Mutation_p.E308*	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	308	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGGGAACAAGGAGCAGGGATA	0.582000														36			10		1.08611e-07	1.18654e-07	0.010729	1	0
TRPM5	29850	broad.mit.edu	37	11	2443414	2443414	+	Silent	SNP	C	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:2443414C>G	uc010qxl.2	-	1	264	c.255G>C	c.(253-255)cgG>cgC	p.R85R	TRPM5_uc001lwm.4_Silent_p.R85R|TRPM5_uc009ydn.3_Silent_p.R85R	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	85						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCAGCACATCCCGCAGCCAGG	0.682000														175			26		0	0	0.005443	0	0
CALB1	793	broad.mit.edu	37	8	91090658	91090658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:91090658C>T	uc003yel.1	-	2	356	c.174G>A	c.(172-174)atG>atA	p.M58I	CALB1_uc003yem.1_Non-coding_Transcript|CALB1_uc011lge.1_Missense_Mutation_p.M1I	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	58	EF-hand 2.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAAAAGTTTTCATTTCAGGTG	0.299000														110			15		0	0	0.004990	0	0
FN1	2335	broad.mit.edu	37	2	216232655	216232655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:216232655C>T	uc002vfa.3	-	41	7215	c.6949G>A	c.(6949-6951)Gaa>Aaa	p.E2317K	FN1_uc002vfc.3_Missense_Mutation_p.E2080K|FN1_uc002vfe.3_Missense_Mutation_p.E2195K|FN1_uc002vff.3_Missense_Mutation_p.E2170K|FN1_uc002vfg.3_Missense_Mutation_p.E2136K|FN1_uc002vfh.3_Missense_Mutation_p.E2016K|FN1_uc002vfi.3_Missense_Mutation_p.E2286K|FN1_uc002vfj.3_Missense_Mutation_p.E2107K|FN1_uc002vfb.3_Missense_Mutation_p.E2105K|FN1_uc002vez.3_Missense_Mutation_p.E480K|FN1_uc010zjp.2_Missense_Mutation_p.E854K|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2226	Fibrin-binding 2.|Fibronectin type-I 12.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCCTGATTCAGACATTCGT	0.463000														44			9		0	0	0.004482	0	0
SNTB1	6641	broad.mit.edu	37	8	121644785	121644785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:121644785C>T	uc010mdg.3	-	2	1121	c.895G>A	c.(895-897)Gac>Aac	p.D299N	SNTB1_uc003ype.3_Missense_Mutation_p.D299N	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	299					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCAGCAGGTCATTAACGTTG	0.537000														44			4		0	0	0.009096	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447100	10447100	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:10447100G>A	uc003gmn.3	-	2	1340	c.853C>T	c.(853-855)Caa>Taa	p.Q285*	ZNF518B_uc021xme.1_Nonsense_Mutation_p.Q285*	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACATCTTTTTGGTATTCCTTT	0.353000														128			26		0	0	0.003330	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870470	51870470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:51870470G>A	uc002xwo.3	+	1	1360	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	TSHZ2_uc021wex.1_Missense_Mutation_p.R155Q	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	158					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R158R(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTGACACCCGAAACGGCAGC	0.547000														86			12		0	0	0.010729	0	0
AKAP13	11214	broad.mit.edu	37	15	86284370	86284370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:86284370C>T	uc002blv.1	+	34	7872	c.7702C>T	c.(7702-7704)Ctc>Ttc	p.L2568F	AKAP13_uc002blu.1_Missense_Mutation_p.L2572F|AKAP13_uc002blw.1_Missense_Mutation_p.L1033F|AKAP13_uc002blx.1_Missense_Mutation_p.L813F	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2568	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCGAGCTCCCTCATTGAGCA	0.642000														21			4		0	0	0.009096	0	0
ANO8	57719	broad.mit.edu	37	19	17444280	17444280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:17444280G>A	uc002ngf.2	-	2	460	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	ANO8_uc010eap.2_Non-coding_Transcript|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	101						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTGTGGCGGTGGTGGCGGACT	0.657000														112			17		0	0	0.008871	0	0
OR5L2	26338	broad.mit.edu	37	11	55594874	55594874	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:55594874C>T	uc001nhy.1	+	0	180	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V59M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCCCCGTGTACTTTTTCCTCA	0.463000										HNSCC(27;0.073)				188			32		0	0	0.004289	0	0
MALT1	10892	broad.mit.edu	37	18	56390422	56390422	+	Silent	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:56390422T>G	uc002lhm.1	+	9	1419	c.1161T>G	c.(1159-1161)acT>acG	p.T387T	MALT1_uc002lhn.1_Silent_p.T376T	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	387	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGGATCTTACTGAATATGAGA	0.383000			T	BIRC3	MALT									52			7		0	0	0.004482	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87280199	87280199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:87280199G>A	uc003ujb.3	+	1	595	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.E62K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E62K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E62K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	62	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCTTCTCCTGAATTTAACAA	0.353000														33			8		0	0	0.006214	0	0
MRO	83876	broad.mit.edu	37	18	48327733	48327733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:48327733G>A	uc010dpa.3	-	4	762	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.P191S|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.P191S	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	191						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCAACCTGGGGATTTCTGTCC	0.488000														155			26		0	0	0.006320	0	0
DZIP1L	199221	broad.mit.edu	37	3	137822773	137822773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:137822773G>A	uc003erq.3	-	1	404	c.41C>T	c.(40-42)cCc>cTc	p.P14L	DZIP1L_uc003err.1_Missense_Mutation_p.P14L	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	14						intracellular	zinc ion binding	p.G13D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCAAAGAGGGGGCCACTGAG	0.632000														155			28		0	0	0.007291	0	0
FAT3	120114	broad.mit.edu	37	11	92430568	92430568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:92430568C>T	uc001pdj.4	+	2	3643	c.3626C>T	c.(3625-3627)tCa>tTa	p.S1209L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1209	Cadherin 11.				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)				ACAACAACTTCAAGGAAATTG	0.378000										TCGA Ovarian(4;0.039)				180			66		0	0	0.014410	0	0
SYCP1	6847	broad.mit.edu	37	1	115527431	115527431	+	Missense_Mutation	SNP	G	A	A	rs147186440		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:115527431G>A	uc001efr.3	+	29	2854	c.2645G>A	c.(2644-2646)aGa>aAa	p.R882K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R882K|SYCP1_uc009wgw.3_Missense_Mutation_p.R857K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	882					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.K881fs*21(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AAAAAAAAGAGAAAAATGGCC	0.254000														76			6		0	0	0.001168	0	0
EPHA3	2042	broad.mit.edu	37	3	89478279	89478279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:89478279G>A	uc003dqy.3	+	11	2323	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	EPHA3_uc021xbf.1_Missense_Mutation_p.E700K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	700	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATTGTCACAGAATACATGGA	0.303000										TSP Lung(6;0.00050)				52			8		0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82582184	82582184	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:82582184G>A	uc003uhx.2	-	4	8374	c.8085C>T	c.(8083-8085)tcC>tcT	p.S2695S	PCLO_uc003uhv.2_Silent_p.S2695S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2626					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAATTGTTATGGAAATGCTGC	0.413000														50			12		0	0	0.010729	0	0
KCNH2	3757	broad.mit.edu	37	7	150645619	150645619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:150645619G>A	uc003wic.3	-	10	3006	c.2605C>T	c.(2605-2607)Ccg>Tcg	p.P869S	KCNH2_uc003wib.3_Missense_Mutation_p.P529S|KCNH2_uc011kux.2_Missense_Mutation_p.P773S	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	869					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGGGAGCCCGGGATCATGTTG	0.607000														31			6		0	0	0.001984	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131475	35131475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:35131475C>T	uc003teq.1	-	19	2218	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCTGCATCTTCGTAAAGTGGA	0.433000														67			16		0	0	0.004990	0	0
AIM1	202	broad.mit.edu	37	6	106968334	106968334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:106968334C>T	uc003prh.3	+	1	2939	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	676							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGGATAGCCCTGCCAGCCTT	0.438000														48			5		0	0	0.000602	0	0
MCTP2	55784	broad.mit.edu	37	15	95020022	95020022	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:95020022G>A	uc002btj.3	+	21	2633	c.2568_splice	c.e21+1	p.K856_splice	MCTP2_uc010boj.3_Splice_Site_p.K585_splice|MCTP2_uc010bok.3_Splice_Site_p.K801_splice|MCTP2_uc002btl.3_Splice_Site_p.K444_splice	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	856					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATGTTCAAAAGGTATGTAATG	0.448000														55			9		0	0	0.006214	0	0
CNBD1	168975	broad.mit.edu	37	8	88249161	88249161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:88249161G>A	uc003ydy.2	+	5	640	c.592G>A	c.(592-594)Gga>Aga	p.G198R		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	198								p.G198E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGCAAATGATGGATTTTATGT	0.348000														63			20		0	0	0.012319	0	0
CERS6	253782	broad.mit.edu	37	2	169312971	169312971	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:169312971T>C	uc002uec.1	+	0	137	c.13T>C	c.(13-15)Tta>Cta	p.L5L	CERS6_uc002ueb.1_Silent_p.L5L	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	5						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCAGGGATCTTAGCCTGGTT	0.667000														48			10		0	0	0.010729	0	0
C2orf42	54980	broad.mit.edu	37	2	70387889	70387889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:70387889G>A	uc002sgh.3	-	8	1712	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	462										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TCTCGGTTCTGGATAAAGCTA	0.428000														39			6		0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55698700	55698700	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:55698700T>A	uc010qhy.1	-	25	3658	c.3263A>T	c.(3262-3264)aAt>aTt	p.N1088I	PCDH15_uc010qhq.2_Missense_Mutation_p.N1088I|PCDH15_uc010qhr.2_Missense_Mutation_p.N1083I|PCDH15_uc021pqv.1_Missense_Mutation_p.N1083I|PCDH15_uc021pqw.1_Missense_Mutation_p.N1095I|PCDH15_uc010qht.2_Missense_Mutation_p.N1090I|PCDH15_uc021pqx.1_Missense_Mutation_p.N1083I|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.N1083I|PCDH15_uc021pqz.1_Missense_Mutation_p.N1061I|PCDH15_uc010qhv.1_Missense_Mutation_p.N1083I|PCDH15_uc010qhw.1_Missense_Mutation_p.N1046I|PCDH15_uc010qhx.1_Missense_Mutation_p.N1012I|PCDH15_uc010qhz.1_Missense_Mutation_p.N1083I|PCDH15_uc010qia.1_Missense_Mutation_p.N1061I|PCDH15_uc001jju.1_Missense_Mutation_p.N1083I|PCDH15_uc010qib.1_Missense_Mutation_p.N1061I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1083	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTGATGTTATTAATTCCAAA	0.363000										HNSCC(58;0.16)				54			5		0	0	0.001168	0	0
NRSN2	80023	broad.mit.edu	37	20	333860	333860	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:333860C>T	uc002wdi.4	+	3	734	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	Homo sapiens neurensin 2 (NRSN2), mRNA.	66						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CTAGATCAGCCTGTCCTCGGG	0.617000														100			22		0	0	0.002780	0	0
LY6G6C	80740	broad.mit.edu	37	6	31686915	31686915	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:31686915G>A	uc003nwh.3	-	2	391	c.336C>T	c.(334-336)ttC>ttT	p.F112F	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	112						anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AGGAGGTAAGGAAGACAAGGC	0.617000														431			101		0	0	0.014410	0	0
RORB	6096	broad.mit.edu	37	9	77257548	77257548	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:77257548T>G	uc004aji.3	+	3	536	c.487T>G	c.(487-489)Tct>Gct	p.S163A	RORB_uc004ajh.3_Missense_Mutation_p.S152A	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	163	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CCTGCCCAAGTCTGAGGGTTA	0.517000														45			10		0	0	0.006214	0	0
RNH1	6050	broad.mit.edu	37	11	498091	498091	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:498091A>T	uc001lpk.1	-	6	2415	c.1007T>A	c.(1006-1008)gTg>gAg	p.V336E	RNH1_uc001lpl.1_Missense_Mutation_p.V336E|RNH1_uc001lpm.1_Missense_Mutation_p.V336E|RNH1_uc001lpn.1_Missense_Mutation_p.V336E|RNH1_uc001lpo.1_Missense_Mutation_p.V336E|RNH1_uc001lpp.2_Missense_Mutation_p.V336E|RNH1_uc001lpq.2_Missense_Mutation_p.V336E|RNH1_uc001lpr.2_Missense_Mutation_p.V336E|RNH1_uc001lps.2_Missense_Mutation_p.V336E	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	336					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGCCAGCACTGAGCTGAA	0.652000														54			10		0	0	0.006214	0	0
TAF1L	138474	broad.mit.edu	37	9	32634401	32634401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:32634401C>T	uc003zrg.1	-	0	1267	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	393					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCACAGGTTCATGTTGTGTC	0.463000														103			24		0	0	0.002780	0	0
PLA2G12A	81579	broad.mit.edu	37	4	110638855	110638855	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:110638855G>A	uc003hzp.3	-	2	577	c.300C>T	c.(298-300)atC>atT	p.I100I	PLA2G12A_uc010img.3_Silent_p.I98I	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	Homo sapiens phospholipase A2, group XIIA (PLA2G12A), mRNA.	100					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		TCAGGGAAGGGATACCAATGT	0.408000														77			14		0	0	0.003163	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413731	22413731	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:22413731G>A	uc001yuf.3	+	0	270	c.30G>A	c.(28-30)aaG>aaA	p.K10K	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CTGAGAAGAAGGTAATCTCCT	0.502000														197			19		0	0	0.008871	0	0
PER2	8864	broad.mit.edu	37	2	239162200	239162200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:239162200G>A	uc002vyc.3	-	18	2701	c.2464C>T	c.(2464-2466)Ccg>Tcg	p.P822S	PER2_uc010znv.1_Missense_Mutation_p.P822S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	822					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCCACCAGCGGGGGCCGGGCG	0.612000														15			3		0	0	0.009096	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635068	70635068	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:70635068G>A	uc001xly.3	-	1	826	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SLC8A3_uc001xlw.3_Silent_p.F24F|SLC8A3_uc001xlx.3_Silent_p.F24F|SLC8A3_uc001xlz.3_Silent_p.F24F|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	24					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GACCATTCAGGAAGAGCACAA	0.552000														21			7		0	0	0.001984	0	0
RBBP4	5928	broad.mit.edu	37	1	33138492	33138492	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:33138492T>C	uc001bvr.3	+	10	1361	c.1202T>C	c.(1201-1203)gTg>gCg	p.V401A	RBBP4_uc001bvs.3_Missense_Mutation_p.V400A|RBBP4_uc010ohj.2_Missense_Mutation_p.V149A|RBBP4_uc010ohk.2_Missense_Mutation_p.V366A	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	401					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCATGCAAGTGTGGCAAATG	0.348000														23			5		0	0	0.000602	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520795	175520796	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:175520795_175520796AC>TT	uc003fit.3	+	13	2279_2280	c.2192_2193AC>TT	c.(2191-2193)aac>aTT	p.N731I		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	731					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTTTTCAGAAACATCCTCTACC	0.356000														19			4		0	0	0.004672	0	0
AFF4	27125	broad.mit.edu	37	5	132262827	132262827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:132262827G>A	uc003kyd.3	-	4	1444	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	AFF4_uc011cxk.2_Missense_Mutation_p.P24S|AFF4_uc003kye.1_Missense_Mutation_p.P346S|AFF4_uc003kyf.4_Missense_Mutation_p.P346S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	346	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTGGAAAAGGAAATTTGGAA	0.333000														35			5		0	0	0.001168	0	0
AK022382	0	broad.mit.edu	37	10	52390613	52390613	+	RNA	SNP	C	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:52390613C>G	uc001jjf.1	+	1		c.1306C>G								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		CATAGGGTGTCTGCTCAATTT	0.423000														12			3		0	0	0.004672	0	0
PKD1L2	114780	broad.mit.edu	37	16	81157334	81157334	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:81157334A>C	uc002fgh.1	-	38	6400	c.6400T>G	c.(6400-6402)Ttt>Gtt	p.F2134V	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2136					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACTCCACAAACACAGCTCTG	0.567000														86			13		0	0	0.013537	0	0
MIOX	55586	broad.mit.edu	37	22	50926360	50926360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:50926360G>A	uc003bll.1	+	3	337	c.223G>A	c.(223-225)Gag>Aag	p.E75K	MIOX_uc003blm.1_Missense_Mutation_p.E75K|MIOX_uc003bln.1_Missense_Mutation_p.E75K	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	75					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACAGTCATGGAGGCCGTGGA	0.612000														46			7		0	0	0.003080	0	0
TMEM174	134288	broad.mit.edu	37	5	72469697	72469697	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:72469697G>A	uc010izc.3	+	1	674	c.626_splice	c.e1+1	p.R209_splice		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	209						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAAATCACAGGTATGGCGTGT	0.488000														74			15		0	0	0.004990	0	0
AQPEP	206338	broad.mit.edu	37	5	115335561	115335561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:115335561G>A	uc003kro.3	+	6	1641	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	493					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CAAAACAAGTGAAATACAGGA	0.353000														42			10		0	0	0.006214	0	0
ZNF584	201514	broad.mit.edu	37	19	58921369	58921369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:58921369C>T	uc002qsp.3	+	1	532	c.80C>T	c.(79-81)tCc>tTc	p.S27F	ZNF584_uc010yia.2_Intron|ZNF584_uc010yib.2_Missense_Mutation_p.S19F	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GTATATTTCTCCAGGGAGGAG	0.493000														60			20		0	0	0.014323	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836148	12836148	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12836148G>A	uc001aui.3	+	1	777	c.750G>A	c.(748-750)agG>agA	p.R250R		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	250										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)		CCCTAGACAGGAAGGAGCAGT	0.502000														76			22		0	0	0.012319	0	0
UNC13C	440279	broad.mit.edu	37	15	54307828	54307828	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:54307828T>A	uc021smr.1	+	0	2728	c.2728T>A	c.(2728-2730)Tat>Aat	p.Y910N	UNC13C_uc021sms.1_Missense_Mutation_p.Y910N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	910					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCACCTTTCATATGAAACACC	0.383000														83			18		0	0	0.008871	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919684	12919684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12919684G>A	uc001aum.1	+	2	511	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	142										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAAGGACGGGAGAGCACCA	0.542000														204			42		0	0	0.007835	0	0
MAP2K4	6416	broad.mit.edu	37	17	11984723	11984723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:11984723C>T	uc002gnj.3	+	2	338	c.269C>T	c.(268-270)tCc>tTc	p.S90F	MAP2K4_uc002gnk.3_Missense_Mutation_p.S101F|MAP2K4_uc010vvi.2_5'UTR|MAP2K4_uc010vvj.2_Intron|MIR744_uc021tqg.1_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	90					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTGAAGATCTCCCCTGAACAA	0.403000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									26			7		0	0	0.003080	0	0
SLC9A9	285195	broad.mit.edu	37	3	143185918	143185918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:143185918C>T	uc003evn.3	-	11	1639	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	477					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TGTTCCTCCTCCAAATACCCA	0.468000														19			8		0	0	0.004482	0	0
COL4A5	1287	broad.mit.edu	37	X	107842027	107842027	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:107842027C>T	uc022ccg.1	+	24	2077	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	COL4A5_uc004enz.1_Silent_p.F625F|COL4A5_uc004eob.1_Silent_p.F233F	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	625	Triple-helical region.			FGPP -> LALQ (in Ref. 5; AAA99480).	axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCCTGGTTTCGGCCCTCCAG	0.512000									Alport syndrome with Diffuse Leiomyomatosis					30			28		0	0	0.004656	0	0
OR5H15	403274	broad.mit.edu	37	3	97888287	97888287	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:97888287C>T	uc011bgu.2	+	0	744	c.744C>T	c.(742-744)gtC>gtT	p.V248V		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCTTCTCTGTCTGTTTATACT	0.428000														45			18		0	0	0.006122	0	0
VPS54	51542	broad.mit.edu	37	2	64211013	64211013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:64211013G>A	uc002scq.3	-	1	284	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	VPS54_uc002scp.3_Missense_Mutation_p.P41S	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	41					protein transport|retrograde transport, endosome to Golgi			p.C40C(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GGTTCCTTGGGACACACATCT	0.383000														96			25		0	0	0.007291	0	0
ENOX1	55068	broad.mit.edu	37	13	43930157	43930157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:43930157G>A	uc001uza.4	-	7	1021	c.721C>T	c.(721-723)Cac>Tac	p.H241Y	ENOX1_uc001uzc.4_Missense_Mutation_p.H241Y|ENOX1_uc001uzb.4_Missense_Mutation_p.H241Y|ENOX1_uc010tfm.1_Missense_Mutation_p.H54Y	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	241					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGCGCCGGTGCCGCTCCTCC	0.612000														104			24		0	0	0.003330	0	0
OR51D1	390038	broad.mit.edu	37	11	4661907	4661907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4661907C>T	uc010qyk.2	+	0	963	c.887C>T	c.(886-888)cCa>cTa	p.P296L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	296					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)		TTGCTGCTACCACCTGTAGTC	0.522000														129			23		0	0	0.002780	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102359354	102359354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:102359354C>T	uc001yko.3	+	6	847	c.707C>T	c.(706-708)gCc>gTc	p.A236V	PPP2R5C_uc010txr.2_Missense_Mutation_p.A267V|PPP2R5C_uc001ykk.3_Missense_Mutation_p.A291V|PPP2R5C_uc010txt.2_Missense_Mutation_p.A226V|PPP2R5C_uc001ykn.3_Missense_Mutation_p.A236V|PPP2R5C_uc001ykp.3_Missense_Mutation_p.A236V|PPP2R5C_uc001ykq.3_Missense_Mutation_p.A134V	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	236					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATGGATTTGCCTTACCACTA	0.343000														30			8		0	0	0.003080	0	0
MECOM	2122	broad.mit.edu	37	3	169099049	169099049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:169099049C>T	uc011bpj.1	-	1	704	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	MECOM_uc003ffl.2_Missense_Mutation_p.E73K|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.E101K|MECOM_uc011bpl.1_Missense_Mutation_p.E101K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	101							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCACCTACTTCGATCTTCCTT	0.448000														86			16		0	0	0.004007	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865133	42865133	+	Silent	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:42865133A>G	uc001chi.2	+	1	360	c.222A>G	c.(220-222)gtA>gtG	p.V74V		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	74					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTGTACGGGTACCCACACCCT	0.552000														21			6		0	0	0.001168	0	0
ODZ1	10178	broad.mit.edu	37	X	123657419	123657419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:123657419G>A	uc010nqy.3	-	16	2892	c.2828C>T	c.(2827-2829)cCt>cTt	p.P943L	ODZ1_uc011muj.2_Missense_Mutation_p.P942L|ODZ1_uc004euj.3_Missense_Mutation_p.P943L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	943					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.D942N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGGCAGGAAAGGGGATCGGTC	0.453000														15			20		0	0	0.007413	0	0
GPR97	222487	broad.mit.edu	37	16	57718373	57718373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:57718373G>A	uc002emh.3	+	9	1337	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	GPR97_uc010vhv.2_Missense_Mutation_p.E292K|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Missense_Mutation_p.E20K	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	412					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGTGATAGGGAGAACCGCAC	0.632000														26			8		0	0	0.004482	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629547	1629547	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:1629547G>A	uc001ltw.1	-	0	147	c.69C>T	c.(67-69)ggC>ggT	p.G23G	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	23						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CGGAGCCACAGCCCCCACAGC	0.657000														117			29		0	0	0.008361	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825389	131825389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:131825389C>T	uc003vra.4	-	29	5636	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N	PLXNA4_uc003vqz.4_Missense_Mutation_p.D88N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1803						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						CTGGGGATGTCCTTGGCATAC	0.602000														45			14		0	0	0.004990	0	0
OR13C9	286362	broad.mit.edu	37	9	107380371	107380371	+	Missense_Mutation	SNP	G	A	A	rs150686997	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:107380371G>A	uc011lvr.2	-	0	115	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L39F(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TTCCCCAGAAGGATGACCACA	0.433000														64			9		0	0	0.008291	0	0
OR5H15	403274	broad.mit.edu	37	3	97888044	97888044	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:97888044C>T	uc011bgu.2	+	0	501	c.501C>T	c.(499-501)acC>acT	p.T167T		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	167			T -> S (in dbSNP:rs4133322).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCAGACTAACCTTCTGTAACT	0.333000														40			8		0	0	0.003080	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350720	134350720	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:134350720C>T	uc004can.4	+	14	3259	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	PRRC2B_uc010mzj.1_Silent_p.G651G|PRRC2B_uc004cao.4_Silent_p.G426G	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1068							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGGGCCGGGGCCGTGGTTTCA	0.607000														43			5		0	0	0.000602	0	0
CFI	3426	broad.mit.edu	37	4	110667389	110667389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:110667389C>T	uc011cft.2	-	11	1650	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	CFI_uc003hzq.3_Missense_Mutation_p.G270E|CFI_uc003hzr.4_Missense_Mutation_p.G473E	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	473	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTTTCTCGTCCCCAGCCAGA	0.418000														32			7		0	0	0.001984	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343184	69343184	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:69343184T>A	uc003hdz.4	+	7	869	c.805T>A	c.(805-807)Tac>Aac	p.Y269N		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	269	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCATGAAAAATACAAACACCC	0.418000														203			48		0	0	0.014410	0	0
SNAPC5	10302	broad.mit.edu	37	15	66790148	66790148	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:66790148G>A	uc002apu.1	-	1	1	c.-76_splice	c.e1-1			NM_006049	NP_006040	O75971	SNPC5_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 5, 19kDa (SNAPC5), mRNA.						transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)	2						CCGACTCCCGGAAACCGAGCG	0.706000											OREG0023204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			6		0	0	0.001168	0	0
CDK18	5129	broad.mit.edu	37	1	205494284	205494284	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:205494284G>A	uc001hcr.3	+	4	769	c.507G>A	c.(505-507)ggG>ggA	p.G169G	CDK18_uc010pri.2_Missense_Mutation_p.E160K|CDK18_uc001hcp.3_Silent_p.G139G|CDK18_uc001hcq.3_Silent_p.G139G|CDK18_uc010prj.2_Silent_p.G50G|CDK18_uc001hcs.3_Silent_p.G50G|CDK18_uc009xbm.1_Silent_p.G50G	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	137	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTGGCTTTGGGAAACTGGAAA	0.547000														30			7		0	0	0.004482	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13065339	13065339	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:13065339C>T	uc002mwb.3	-	2	375	c.351_splice	c.e2-1	p.R117_splice		NM_052850	NP_443082	Q8TAE8	G45IP_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, gamma interacting protein 1 (GADD45GIP1), mRNA.	117					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						ATGTGCTGCTCCCTGCAGGGG	0.617000														29			9		0	0	0.004482	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805262	146805262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:146805262G>A	uc003weu.2	+	4	1090	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	192					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G192G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACTTTGATGGCCATGTTGT	0.348000										HNSCC(39;0.1)				40			9		0	0	0.008291	0	0
KLHL32	114792	broad.mit.edu	37	6	97561827	97561827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:97561827G>A	uc010kcm.1	+	6	1268	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	KLHL32_uc003poy.3_Missense_Mutation_p.E266K|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.E230K|KLHL32_uc011eae.1_Missense_Mutation_p.E197K|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	266										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGAGGCCCTGGAATACCACCA	0.527000														45			9		0	0	0.004482	0	0
NUP210	23225	broad.mit.edu	37	3	13363298	13363298	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:13363298C>T	uc003bxv.1	-	35	5036	c.4953G>A	c.(4951-4953)acG>acA	p.T1651T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1651					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T1651T(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTGCTTGTCCGTCAGCCTGT	0.572000														212			43		0	0	0.013114	0	0
PIGK	10026	broad.mit.edu	37	1	77635030	77635030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:77635030G>A	uc001dhk.3	-	3	335	c.290C>T	c.(289-291)cCc>cTc	p.P97L	PIGK_uc010orj.2_Intron|PIGK_uc009wbx.3_Intron|PIGK_uc001dhl.1_Missense_Mutation_p.P97L	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	97					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AGCTGGTTTGGGATTTCTAGG	0.333000														48			12		0	0	0.013537	0	0
STARD4	134429	broad.mit.edu	37	5	110835597	110835597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:110835597C>T	uc003kph.1	-	5	689	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	STARD4_uc010jbw.1_Missense_Mutation_p.R104Q|STARD4_uc010jbx.1_Missense_Mutation_p.R104Q|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	202	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAAAGCTTTTCGTAAATCACC	0.403000														57			7		0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130419974	130419974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:130419974G>A	uc004ewe.4	-	3	429	c.146C>T	c.(145-147)gCc>gTc	p.A49V	IGSF1_uc004ewd.3_Missense_Mutation_p.A49V|IGSF1_uc022cdv.1_Missense_Mutation_p.A40V|IGSF1_uc004ewf.2_Missense_Mutation_p.A29V|IGSF1_uc022cdw.1_Missense_Mutation_p.A49V|IGSF1_uc004ewg.3_Missense_Mutation_p.A49V	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	49	Ig-like C2-type 1.				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						CTCCCAAGGGGCCTGGGGGTA	0.527000														48			22		0	0	0.003330	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433461	72433461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:72433461G>A	uc004ebi.3	-	0	1250	c.868C>T	c.(868-870)Cac>Tac	p.H290Y		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	290					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GGTTTGAAGTGAAATTCTAGT	0.383000														18			13		0	0	0.013537	0	0
CA10	56934	broad.mit.edu	37	17	50212243	50212243	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:50212243C>T	uc002itv.4	-	1	811	c.75G>A	c.(73-75)gaG>gaA	p.E25E	CA10_uc002itw.4_Intron|CA10_uc002itx.4_Intron|CA10_uc002ity.4_Intron|CA10_uc002itz.2_Intron	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			actcaccattctccctcaccc	0.572000														56			7		0	0	0.003080	0	0
NRAP	4892	broad.mit.edu	37	10	115350562	115350562	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:115350562G>A	uc001lal.3	-	39	4895	c.4731C>T	c.(4729-4731)ttC>ttT	p.F1577F	NRAP_uc009xyb.3_Silent_p.F330F|NRAP_uc001laj.3_Silent_p.F1577F|NRAP_uc001lak.3_Silent_p.F1542F	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1577						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAACGTTGAGGAAATGCTTCA	0.567000														64			13		0	0	0.001855	0	0
SRRM2	23524	broad.mit.edu	37	16	2814690	2814690	+	Silent	SNP	C	T	T	rs78949014	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:2814690C>T	uc002crk.3	+	10	4710	c.4161C>T	c.(4159-4161)tcC>tcT	p.S1387S	SRRM2_uc002crj.1_Silent_p.S1291S|SRRM2_uc002crl.1_Silent_p.S1387S|SRRM2_uc010bsu.1_Silent_p.S1291S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1387	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGAGTTATCCCCAGATGCAG	0.448000														228			50		0	0	0.014410	0	0
RLF	6018	broad.mit.edu	37	1	40705609	40705609	+	Silent	SNP	C	T	T	rs138324360	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:40705609C>T	uc001cfc.4	+	7	5266	c.5235C>T	c.(5233-5235)gtC>gtT	p.V1745V	RLF_uc001cfd.4_Silent_p.V1436V	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1745					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAACCCATGTCCCAAAAGAGA	0.378000														31			9		0	0	0.004482	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817217	69817217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:69817217C>T	uc003hef.2	-	0	293	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	88						integral to membrane	glucuronosyltransferase activity	p.E88K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAAATATTTCATTTTCTTCT	0.363000														45			6		0	0	0.001168	0	0
HOMER2	9455	broad.mit.edu	37	15	83561540	83561540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:83561540G>A	uc002bjg.3	-	1	248	c.59C>T	c.(58-60)aCc>aTc	p.T20I	HOMER2_uc002bjh.3_Missense_Mutation_p.T20I	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	20	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GTTCTTCTTGGTGTTGGGGTC	0.517000														91			13		0	0	0.001855	0	0
CELSR2	1952	broad.mit.edu	37	1	109815912	109815912	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:109815912G>A	uc001dxa.4	+	31	8524	c.8463G>A	c.(8461-8463)gaG>gaA	p.E2821E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2821					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTCTCGAGAGGGGTCCCTAG	0.647000														210			43		0	0	0.008740	0	0
ZNF131	7690	broad.mit.edu	37	5	43161823	43161823	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:43161823T>G	uc011cpw.2	+	4	880	c.844T>G	c.(844-846)Tca>Gca	p.S282A	ZNF131_uc010ivl.1_Missense_Mutation_p.S248A|ZNF131_uc003jnj.4_Missense_Mutation_p.S3A|ZNF131_uc003jnk.3_Missense_Mutation_p.S248A|ZNF131_uc003jnn.4_Missense_Mutation_p.S3A|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	Homo sapiens zinc finger protein 131 (ZNF131), mRNA.	282						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCACATGAAATCACACTCCAC	0.383000														25			7		0	0	0.003080	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966983	39966983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:39966983G>A	uc003ayc.3	+	0	226	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	CACNA1I_uc003ayd.3_Missense_Mutation_p.V76M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	76					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CATCAAGATGGTGTGCAACCC	0.632000														74			20		0	0	0.012319	0	0
ITGA4	3676	broad.mit.edu	37	2	182360653	182360653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:182360653C>T	uc002unu.3	+	13	2292	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	510					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGGAAGTTCCAGGTTACATT	0.428000														60			16		0	0	0.004990	0	0
CCDC65	85478	broad.mit.edu	37	12	49312592	49312592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:49312592G>A	uc001rso.3	+	5	1159	c.932G>A	c.(931-933)aGa>aAa	p.R311K		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	311										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AAGGCCCAAAGAACTCAGGCC	0.468000														40			6		0	0	0.001984	0	0
NPTX2	4885	broad.mit.edu	37	7	98254422	98254422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:98254422G>A	uc003upl.2	+	2	1009	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	278	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGGCCAACGAGATCGTGCT	0.637000														60			15		0	0	0.006122	0	0
MRAP2	112609	broad.mit.edu	37	6	84798852	84798852	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:84798852T>G	uc003pkg.4	+	3	460	c.270T>G	c.(268-270)ttT>ttG	p.F90L	MRAP2_uc010kbo.3_Missense_Mutation_p.F4L	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	90					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TGAACAGCTTTGTGTCAGACT	0.433000														46			6		0	0	0.003080	0	0
CROCC	9696	broad.mit.edu	37	1	17250864	17250864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:17250864G>A	uc001azt.2	+	2	310	c.241G>A	c.(241-243)Gag>Aag	p.E81K	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	81					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GTCGCTGCAGGAGGAGAACCA	0.642000														26			5		0	0	0.000602	0	0
GATA4	2626	broad.mit.edu	37	8	11606439	11606439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:11606439G>A	uc011kxc.1	+	1	1088	c.631G>A	c.(631-633)Gac>Aac	p.D211N	GATA4_uc003wub.1_Missense_Mutation_p.D4N|GATA4_uc003wuc.2_Missense_Mutation_p.D210N	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	210					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517000														135			30		0	0	0.004289	0	0
PAFAH2	5051	broad.mit.edu	37	1	26317280	26317280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:26317280G>A	uc001bld.4	-	1	208	c.28C>T	c.(28-30)Cca>Tca	p.P10S	PAFAH2_uc001ble.4_Missense_Mutation_p.P10S	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	10					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACAGGTGGAAAGCCCACA	0.557000														34			6		0	0	0.001168	0	0
DUOX2	50506	broad.mit.edu	37	15	45398382	45398382	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:45398382G>A	uc001zun.3	-	16	2292	c.2089C>T	c.(2089-2091)Ctg>Ttg	p.L697L	DUOX2_uc010bea.3_Silent_p.L697L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	697					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)		TTGTTGGACAGGATGAGGTTG	0.602000														13			4		0	0	0.000602	0	0
KIAA0586	9786	broad.mit.edu	37	14	58955384	58955384	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:58955384C>T	uc010trr.2	+	25	3976	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F	KIAA0586_uc001xdu.4_Silent_p.F1176F|KIAA0586_uc010trs.2_Silent_p.F1106F|KIAA0586_uc001xdt.4_Silent_p.F1147F|KIAA0586_uc001xdv.4_Silent_p.F1115F|KIAA0586_uc010trt.2_Silent_p.F1051F	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	1115										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTATGGATTTCCCTGCTCAGC	0.483000														44			15		0	0	0.004007	0	0
ZNF808	388558	broad.mit.edu	37	19	53057071	53057071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:53057071C>T	uc010epq.1	+	4	1079	c.902C>T	c.(901-903)tCc>tTc	p.S301F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TACAAGTCATCCCTTACATGC	0.398000														76			16		0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	113420569	113420569	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:113420569C>T	uc003ynu.3	-	33	5742	c.5583G>A	c.(5581-5583)aaG>aaA	p.K1861K	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.K1821K|CSMD3_uc011lhx.2_Silent_p.K1757K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1861	CUB 10.					integral to membrane|plasma membrane		p.A1860G(1)|p.A1860D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTGAAATCCCTTAGCTGTTA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				85			16		0	0	0.004990	0	0
AAK1	22848	broad.mit.edu	37	2	69707998	69707998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:69707998G>A	uc002sfp.2	-	18	3068	c.2563C>T	c.(2563-2565)Cgc>Tgc	p.R855C		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	855						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGACCTGTGCGATTCGAGGTC	0.552000														7			4		0	0	0.009096	0	0
MEP1B	4225	broad.mit.edu	37	18	29793248	29793248	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:29793248G>A	uc002kxj.4	+	10	1352	c.1305G>A	c.(1303-1305)agG>agA	p.R435R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	435	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I434T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCATATAAGGAATTTCACAC	0.433000														30			7		0	0	0.003080	0	0
FABP1	2168	broad.mit.edu	37	2	88425859	88425859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:88425859C>T	uc002sst.2	-	1	190	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	26					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ATGAGCTCTTCCGGCAGACCT	0.527000														160			29		0	0	0.009535	0	0
ZNF454	285676	broad.mit.edu	37	5	178392621	178392621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:178392621C>T	uc003mjo.2	+	4	1517	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H406Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H406Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCGGAAAATTCACACTGGAGA	0.418000														40			8		0	0	0.006214	0	0
TKTL2	84076	broad.mit.edu	37	4	164394562	164394562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:164394562C>T	uc003iqp.4	-	0	486	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	109						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGGTGTCTCTCCAAGTCGCTG	0.532000														29			5		0	0	0.001168	0	0
CEP128	145508	broad.mit.edu	37	14	81382795	81382795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:81382795G>A	uc001xux.2	-	1	268	c.97C>T	c.(97-99)Cct>Tct	p.P33S	CEP128_uc001xuz.2_Missense_Mutation_p.P33S|CEP128_uc001xva.1_Missense_Mutation_p.P33S|CEP128_uc010ata.1_Missense_Mutation_p.P33S	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	33						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTACTGTAGGAAGACTTCGA	0.428000														35			12		0	0	0.013537	0	0
NLRP7	199713	broad.mit.edu	37	19	55450616	55450616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55450616C>T	uc002qih.4	-	3	1647	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	NLRP7_uc010esk.3_Missense_Mutation_p.G524D|NLRP7_uc002qig.4_Missense_Mutation_p.G524D|NLRP7_uc002qii.4_Missense_Mutation_p.G524D|NLRP7_uc010esl.3_Missense_Mutation_p.G552D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	524							ATP binding	p.G524S(1)		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)		GTTAGCGAGGCCGAATAAGAA	0.532000														60			13		0	0	0.001855	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106116850	106116850	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:106116850C>T	uc004emo.3	+	20	3183	c.3018C>T	c.(3016-3018)gaC>gaT	p.D1006D	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	1006						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCATGAGGACCCTGAAGAAG	0.363000														38			12		0	0	0.010729	0	0
PCDH7	5099	broad.mit.edu	37	4	30723223	30723223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:30723223G>A	uc003gsk.1	+	0	1187	c.179G>A	c.(178-180)gGa>gAa	p.G60E	PCDH7_uc011bxx.2_Missense_Mutation_p.G60E|PCDH7_uc021xnd.1_Missense_Mutation_p.G60E|PCDH7_uc021xnc.1_Missense_Mutation_p.G60E	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	60	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCGTGACCGGATCGGGTGAG	0.677000														37			8		0	0	0.003080	0	0
HEATR8	374977	broad.mit.edu	37	1	55144997	55144997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:55144997G>A	uc010ooe.1	+	11	2435	c.2111G>A	c.(2110-2112)gGg>gAg	p.G704E	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G272E|HEATR8_uc010ood.1_Missense_Mutation_p.G222E|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G704E|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	704						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCCTGGAAGGGCTGAAAGGC	0.592000														92			20		0	0	0.007413	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845751	106845751	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:106845751C>T	uc022cce.1	+	0	2117	c.1749C>T	c.(1747-1749)atC>atT	p.I583I				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1527						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCTGCTCCATCCGCTACTGCT	0.572000														36			18		0	0	0.007413	0	0
HAP1	9001	broad.mit.edu	37	17	39883689	39883689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39883689G>A	uc002hxm.1	-	8	1304	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Intron|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	431	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTGCAGCTGGGAACCCACCCA	0.627000														48			8		0	0	0.004482	0	0
LINGO2	158038	broad.mit.edu	37	9	27949742	27949742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:27949742G>A	uc003zqv.1	-	6	1578	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	LINGO2_uc010mjf.1_Missense_Mutation_p.R310C|LINGO2_uc003zqu.1_Missense_Mutation_p.R310C|LINGO2_uc022bfc.1_Missense_Mutation_p.R310C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	310						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCAATGGTGCGAAGCTGGGCC	0.522000														67			14		0	0	0.003163	0	0
IL1R2	7850	broad.mit.edu	37	2	102626052	102626052	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:102626052G>A	uc002tbm.3	+	2	325	c.96G>A	c.(94-96)ggG>ggA	p.G32G	IL1R2_uc002tbn.3_Silent_p.G32G|IL1R2_uc002tbo.1_Silent_p.G32G	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	32	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GGTTTCGTGGGAGGCATTACA	0.602000														120			25		0	0	0.003954	0	0
TTLL13	440307	broad.mit.edu	37	15	90800928	90800928	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:90800928C>T	uc002bpd.1	+	7	1197	c.909C>T	c.(907-909)gtC>gtT	p.V303V	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	303	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AGAATTTTGTCCGGGATGGCG	0.522000														70			19		0	0	0.003954	0	0
ADCY7	113	broad.mit.edu	37	16	50335009	50335009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:50335009G>A	uc002egd.1	+	8	1520	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	ADCY7_uc002egb.1_Missense_Mutation_p.E418K|ADCY7_uc002egc.2_Missense_Mutation_p.E418K	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	418					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCACATCACGGAGGCCACGCT	0.652000														20			7		0	0	0.006214	0	0
DYSF	8291	broad.mit.edu	37	2	71840531	71840531	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:71840531C>T	uc010fen.3	+	39	4596	c.4455C>T	c.(4453-4455)atC>atT	p.I1485I	DYSF_uc010fei.3_Silent_p.I1484I|DYSF_uc010feh.3_Silent_p.I1453I|DYSF_uc002sig.4_Silent_p.I1453I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I1498I|DYSF_uc010fee.3_Silent_p.I1467I|DYSF_uc010fef.3_Silent_p.I1484I|DYSF_uc002sie.3_Silent_p.I1467I|DYSF_uc010feo.3_Silent_p.I1499I|DYSF_uc010fej.3_Silent_p.I1454I|DYSF_uc010fel.3_Silent_p.I1454I|DYSF_uc010fem.3_Silent_p.I1468I|DYSF_uc002sif.3_Silent_p.I1468I|DYSF_uc010fek.3_Silent_p.I1485I|DYSF_uc010yqy.2_Silent_p.I348I|DYSF_uc010yqz.2_Silent_p.I207I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1467						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCCCTCATCCCCATCCAGG	0.582000														20			6		0	0	0.003080	0	0
ATP4A	495	broad.mit.edu	37	19	36044004	36044004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:36044004C>T	uc002oal.1	-	17	2715	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	ATP4A_uc010eee.1_Missense_Mutation_p.G54R	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	896					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCCCGCAGCCCCACGCACAGC	0.642000														134			26		0	0	0.005443	0	0
C12orf51	283450	broad.mit.edu	37	12	112607316	112607316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:112607316G>A	uc021reb.1	-	69	12193	c.11797C>T	c.(11797-11799)Cat>Tat	p.H3933Y		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGGTGCCATGGACCTCCTCG	0.617000														15			4		0	0	0.009096	0	0
PTPRD	5789	broad.mit.edu	37	9	8518269	8518269	+	Silent	SNP	C	T	T	rs137892356		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:8518269C>T	uc003zkk.3	-	20	1865	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	PTPRD_uc003zkp.3_Silent_p.A374A|PTPRD_uc003zkq.3_Silent_p.A374A|PTPRD_uc003zkr.3_Silent_p.A368A|PTPRD_uc003zks.3_Silent_p.A364A|PTPRD_uc022bdj.1_Silent_p.A371A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	374	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A374V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCGTGTGGTCGCCACCCCAT	0.483000										TSP Lung(15;0.13)				106			18		0	0	0.008871	0	0
MGAM	8972	broad.mit.edu	37	7	141758047	141758047	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:141758047C>T	uc003vwy.3	+	30	3792	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1246	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTGGGGTTCCAGCTGTGTC	0.473000														271			59		0	0	0.014410	0	0
TRBV30	28557	broad.mit.edu	37	7	142510322	142510322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142510322G>A	uc003wbp.2	-	1	396	c.284C>T	c.(283-285)tCt>tTt	p.S95F	TRBV30_uc022aob.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGCTTCTTAGAACTCAGGAT	0.557000														13			5		0	0	0.000602	0	0
TICAM1	148022	broad.mit.edu	37	19	4817259	4817259	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:4817259G>A	uc002mbi.3	-	1	1382	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	TICAM1_uc021unj.1_Silent_p.T377T	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	377					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGAGGAGGGGGTCAGGTGAG	0.557000														57			12		0	0	0.013537	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049478	36049478	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:36049478A>G	uc003jjz.2	-	3	488	c.356T>C	c.(355-357)tTg>tCg	p.L119S	UGT3A2_uc011cos.2_Missense_Mutation_p.L85S|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	119						integral to membrane	glucuronosyltransferase activity	p.A118A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGCACTGCAACGCCAAGTA	0.299000														51			6		0	0	0.001984	0	0
DOCK8	81704	broad.mit.edu	37	9	441916	441916	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:441916C>T	uc003zgf.2	+	41	5509	c.5397C>T	c.(5395-5397)ttC>ttT	p.F1799F	DOCK8_uc022bcu.1_Silent_p.F1731F|DOCK8_uc010mgv.3_Silent_p.F1699F|DOCK8_uc010mgu.3_Silent_p.F1101F|DOCK8_uc003zgk.2_Silent_p.F1257F	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1799	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGTTGGTTTCTTTGGATCCA	0.408000														62			17		0	0	0.004990	0	0
DNAH9	1770	broad.mit.edu	37	17	11642272	11642272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:11642272C>T	uc002gne.3	+	28	5958	c.5890C>T	c.(5890-5892)Cct>Tct	p.P1964S	DNAH9_uc010coo.3_Missense_Mutation_p.P1258S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1964	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGCCTGAATCCTTCTGTCGG	0.493000														45			10		0	0	0.006214	0	0
L32131	0	broad.mit.edu	37	17	58511487	58511487	+	RNA	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:58511487G>A	uc002iyr.1	-	0		c.1871C>T								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		CCAGGGGGCCGATCTTGGGGG	0.567000														13			8		0	0	0.003080	0	0
MYOCD	93649	broad.mit.edu	37	17	12655755	12655755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:12655755C>T	uc002gno.2	+	9	1449	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.R384*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.R288*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.R103*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.R384Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACAACAGCTTCGAATTCGGGG	0.453000														48			6		0	0	0.001984	0	0
CUTC	51076	broad.mit.edu	37	10	101514321	101514321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:101514321C>T	uc001kqd.4	+	7	785	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CUTC_uc001kqe.4_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA.	213					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	p.L213I(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ACAAAGGATCCTTGAGGGTTC	0.353000														200			56		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719379	140719379	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140719379C>T	uc003ljk.2	+	0	1026	c.841C>T	c.(841-843)Cta>Tta	p.L281L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.L281L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	282	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATATTTTCTAGAGAAAAG	0.468000														128			28		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179497685	179497685	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179497685C>T	uc021vsy.1	-	182	35694	c.35469G>A	c.(35467-35469)caG>caA	p.Q11823Q	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.Q5518Q|TTN_uc021vta.1_Silent_p.Q5451Q|TTN_uc021vtb.1_Silent_p.Q5326Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12750	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTAGCAGCCTGGAAGGAAA	0.443000														89			15		0	0	0.003163	0	0
GKAP1	80318	broad.mit.edu	37	9	86383828	86383828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:86383828C>T	uc004amy.3	-	7	1139	c.643G>A	c.(643-645)Gat>Aat	p.D215N	GKAP1_uc004amz.3_Intron|GKAP1_uc011lsu.1_Non-coding_Transcript	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	215					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TGAACATCATCTTCCAGTCTA	0.338000														44			10		0	0	0.008291	0	0
USP40	55230	broad.mit.edu	37	2	234442325	234442325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:234442325C>T	uc010zmr.2	-	9	1304	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K	USP40_uc010zmt.1_Missense_Mutation_p.R79K	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	423					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTGGTCATTCCTTTGGAAATC	0.398000														50			7		0	0	0.001984	0	0
TRIM3	10612	broad.mit.edu	37	11	6472626	6472626	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:6472626G>A	uc001mdh.3	-	8	1972	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	TRIM3_uc001mdi.3_Nonsense_Mutation_p.R526*|TRIM3_uc010raj.2_Nonsense_Mutation_p.R407*|TRIM3_uc009yfd.3_Nonsense_Mutation_p.R526*|TRIM3_uc010rak.1_Nonsense_Mutation_p.R526*	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	526					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.R526*(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCGTCCTCGGACCCCAAAA	0.582000														78			31		0	0	0.009535	0	0
ALS2	57679	broad.mit.edu	37	2	202619388	202619388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:202619388G>A	uc002uyo.3	-	5	1834	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	ALS2_uc002uyp.4_Missense_Mutation_p.P493L|ALS2_uc002uyq.3_Missense_Mutation_p.P493L	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	493					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAAGAGCCTGGGGGAAACTGA	0.483000														49			10		0	0	0.008291	0	0
APEH	327	broad.mit.edu	37	3	49713214	49713214	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:49713214C>T	uc010hkw.1	+	3	760	c.360C>T	c.(358-360)ttC>ttT	p.F120F	APEH_uc003cxf.3_Silent_p.F120F	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	120					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGAAGCAGTTCCTGGAGGTGA	0.587000														47			22		0	0	0.014323	0	0
LRRC52	440699	broad.mit.edu	37	1	165513753	165513753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:165513753G>A	uc001gde.2	+	0	276	c.220G>A	c.(220-222)Gga>Aga	p.G74R	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	74						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AATGCATCTAGGACTCCTCAG	0.478000														164			28		0	0	0.007291	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3447553	3447553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:3447553C>T	uc002qxm.1	+	5	1627	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	TRAPPC12_uc002qxn.1_Missense_Mutation_p.S474F|TRAPPC12_uc010ewm.1_Missense_Mutation_p.S474F	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	474							binding										ATTCCAGGCTCCATGGTCCCC	0.547000														30			5		0	0	0.000602	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	RNA	SNP	C	A	A	rs79307257	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:96593016C>A	uc010yug.1	-	26		c.1897G>T			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000														44			4		0.00909568	0.00981511	0.009096	1	0
ODZ3	55714	broad.mit.edu	37	4	183652127	183652127	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:183652127T>G	uc003ivd.1	+	14	2877	c.2802T>G	c.(2800-2802)aaT>aaG	p.N934K	ODZ3_uc003ive.1_Missense_Mutation_p.N340K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	934					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)		TTCCATGGAATGTCTTTTATG	0.433000														37			4		0	0	0.009096	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760752	62760752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:62760752C>T	uc009yon.3	-	10	1707	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Missense_Mutation_p.R406K|SLC22A8_uc001nwo.3_Missense_Mutation_p.R529K|SLC22A8_uc010rmm.2_Missense_Mutation_p.R438K|SLC22A8_uc001nwp.2_3'UTR	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	529					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TAGAGGGATCCTCTGGGAGGC	0.612000														38			13		0	0	0.003163	0	0
LPAR4	2846	broad.mit.edu	37	X	78011344	78011344	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:78011344C>T	uc022bzj.1	+	0	978	c.978C>T	c.(976-978)gcC>gcT	p.A326A	LPAR4_uc010nme.3_Silent_p.A326A	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	326						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACATCAATGCCCACATCAGAA	0.423000														32			13		0	0	0.003163	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:102738085G>A	uc001krw.2	+	4	853	c.469G>A	c.(469-471)Gag>Aag	p.E157K	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.E157K|SEMA4G_uc001krx.3_Missense_Mutation_p.E157K|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	157	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532000														17			4		0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	215987180	215987180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:215987180G>A	uc001hku.1	-	48	10024	c.9637C>T	c.(9637-9639)Ccg>Tcg	p.P3213S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3213					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAACAAACGGGATATACTTT	0.418000										HNSCC(13;0.011)				38			10		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179442511	179442511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179442511C>T	uc021vsy.1	-	271	61163	c.60938G>A	c.(60937-60939)cGa>cAa	p.R20313Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14008Q|TTN_uc021vta.1_Missense_Mutation_p.R13941Q|TTN_uc021vtb.1_Missense_Mutation_p.R13816Q|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21240							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)			AGGTAGATCTCGCTTCTCCAC	0.398000														60			10		0	0	0.010729	0	0
DBC1	1620	broad.mit.edu	37	9	121976369	121976369	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:121976369G>A	uc004bkc.2	-	5	1206	c.750C>T	c.(748-750)atC>atT	p.I250I	DBC1_uc004bkd.2_Silent_p.I250I	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	250	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CATTGCACATGATATAGCTCA	0.512000														54			13		0	0	0.013537	0	0
MACF1	23499	broad.mit.edu	37	1	39824860	39824860	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:39824860C>T	uc021olw.1	+	10	7488	c.7488C>T	c.(7486-7488)ctC>ctT	p.L2496L	MACF1_uc021ols.1_Silent_p.L1994L|MACF1_uc001cdc.2_Silent_p.L1994L|MACF1_uc021olt.1_Silent_p.L1994L|MACF1_uc001cda.1_Silent_p.L1902L|MACF1_uc001cdb.1_Silent_p.L1081L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4061					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAAAAACTCCAAAAAGTAG	0.408000														35			11		0	0	0.013537	0	0
ENAM	10117	broad.mit.edu	37	4	71509905	71509905	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:71509905A>G	uc011caw.1	+	8	3043	c.2762A>G	c.(2761-2763)gAt>gGt	p.D921G		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	921					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGACAAGAGATATCATCTCC	0.493000														45			20		0	0	0.012319	0	0
CACNA1B	774	broad.mit.edu	37	9	140851251	140851251	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:140851251G>A	uc004cog.3	+	8	1360	c.1215G>A	c.(1213-1215)agG>agA	p.R405R	CACNA1B_uc022bqn.1_Silent_p.R405R|CACNA1B_uc011mfd.2_Silent_p.R7R	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	405					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGAGGACAGGAATGCAGAGG	0.617000														58			14		0	0	0.003163	0	0
ANK1	286	broad.mit.edu	37	8	41547801	41547801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:41547801C>T	uc003xok.3	-	32	4132	c.4048G>A	c.(4048-4050)Gag>Aag	p.E1350K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E666K|ANK1_uc003xoi.3_Missense_Mutation_p.E1350K|ANK1_uc003xoj.3_Missense_Mutation_p.E1350K|ANK1_uc003xol.3_Missense_Mutation_p.E1350K|ANK1_uc003xom.3_Missense_Mutation_p.E1391K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1350					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGTGTCCTCGTACTTCATC	0.607000														54			14		0	0	0.001855	0	0
GRM3	2913	broad.mit.edu	37	7	86468214	86468214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:86468214G>A	uc003uid.3	+	3	2483	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.G334R|GRM3_uc010leh.3_Missense_Mutation_p.G54R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	462					synaptic transmission	integral to plasma membrane		p.D461H(1)|p.G462V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTGGAGATGGAATGGGGCG	0.378000														27			9		0	0	0.004482	0	0
TRAF5	7188	broad.mit.edu	37	1	211545679	211545679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:211545679C>T	uc010psx.2	+	10	1427	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	TRAF5_uc001hih.3_Missense_Mutation_p.R437C|TRAF5_uc001hii.3_Missense_Mutation_p.R437C|TRAF5_uc010psy.2_Missense_Mutation_p.R331C|TRAF5_uc001hij.3_Missense_Mutation_p.R437C	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	437	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CTACACCAGCCGCTGTGGCTA	0.537000														75			43		0	0	0.008740	0	0
PAK7	57144	broad.mit.edu	37	20	9561352	9561352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:9561352C>T	uc002wnl.2	-	4	975	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PAK7_uc002wnk.2_Missense_Mutation_p.E144K|PAK7_uc002wnj.2_Missense_Mutation_p.E144K|PAK7_uc010gby.1_Missense_Mutation_p.E144K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	144	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E144K(2)|p.T143T(1)		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)			CTGTACTTTTCGGTCGTGTAG	0.512000														187			47		0	0	0.013114	0	0
FCGBP	8857	broad.mit.edu	37	19	40362950	40362950	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:40362950C>T	uc002omp.4	-	31	15128	c.15120G>A	c.(15118-15120)gaG>gaA	p.E5040E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5040	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGGTGCAGTCTCCTCTGCCA	0.697000														59			7		0	0	0.003080	0	0
OR51D1	390038	broad.mit.edu	37	11	4661092	4661092	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:4661092C>T	uc010qyk.2	+	0	148	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	24					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)		CAGCATACTTCCTTTTGGTGG	0.502000														142			21		0	0	0.008871	0	0
CCNB3	85417	broad.mit.edu	37	X	50052722	50052722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:50052722C>T	uc004dox.4	+	5	1851	c.1553C>T	c.(1552-1554)tCa>tTa	p.S518L	CCNB3_uc004doy.3_Missense_Mutation_p.S518L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	518					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGAAAAGTCACTTATTAAG	0.408000														11			7		0	0	0.001984	0	0
COL3A1	1281	broad.mit.edu	37	2	189875011	189875011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:189875011C>T	uc002uqj.1	+	48	4048	c.3931C>T	c.(3931-3933)Cca>Tca	p.P1311S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1311	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)	TTTGAATGTTCCACGGAAACA	0.433000														55			12		0	0	0.010729	0	0
COL12A1	1303	broad.mit.edu	37	6	75890817	75890817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:75890817C>T	uc021zbv.1	-	9	2037	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E668K|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.E326K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	668	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGCCGCTTCCTTGTAGGTG	0.458000														49			13		0	0	0.013537	0	0
C6	729	broad.mit.edu	37	5	41149459	41149459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:41149459G>A	uc003jmk.2	-	16	2717	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	C6_uc003jml.1_Missense_Mutation_p.S836F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	836	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCTTGGCAGGAACCAATATG	0.423000														117			24		0	0	0.002780	0	0
SHANK2	22941	broad.mit.edu	37	11	70333293	70333293	+	Silent	SNP	G	A	A	rs115697891	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:70333293G>A	uc001oqc.3	-	20	3019	c.2907C>T	c.(2905-2907)atC>atT	p.I969I	SHANK2_uc010rqn.2_Silent_p.I445I|SHANK2_uc001opz.3_Silent_p.I440I|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	656					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTCCTTCACGATGATGGTCG	0.677000														97			56		0	0	0.014410	0	0
ATP8B4	79895	broad.mit.edu	37	15	50288950	50288950	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:50288950C>T	uc001zxu.3	-	8	655	c.513G>A	c.(511-513)acG>acA	p.T171T	ATP8B4_uc010ber.3_Silent_p.T44T|ATP8B4_uc010ufd.2_Silent_p.T44T|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	171					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)		CTTTTAGGTTCGTTTCCCTGT	0.408000														18			4		0	0	0.009096	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872802	51872802	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:51872802C>T	uc002xwo.3	+	1	3692	c.2805C>T	c.(2803-2805)ttC>ttT	p.F935F	TSHZ2_uc021wex.1_Silent_p.F932F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	935					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCTCCCAGTTCAGAACCCCTT	0.488000														65			13		0	0	0.001855	0	0
GUCA1B	2979	broad.mit.edu	37	6	42152572	42152572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:42152572C>T	uc003orz.3	-	3	720	c.584G>A	c.(583-585)cGg>cAg	p.R195Q		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA.	195					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.R194I(1)		large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GGCACTTTTCCGTCTCTGCTG	0.582000														78			12		0	0	0.013537	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660118	77660118	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:77660118C>T	uc011cbx.2	+	4	1745	c.792C>T	c.(790-792)tcC>tcT	p.S264S	SHROOM3_uc011cbz.1_Silent_p.S88S|SHROOM3_uc003hkf.1_Silent_p.S139S|SHROOM3_uc003hkg.3_Silent_p.S42S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	264					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTCTTTCTCCACCAGTTCTA	0.557000														31			8		0	0	0.003080	0	0
PDE12	201626	broad.mit.edu	37	3	57542496	57542496	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:57542496G>A	uc003diw.4	+	0	516	c.390G>A	c.(388-390)gaG>gaA	p.E130E	PDE12_uc003div.3_Silent_p.E130E	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	130							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCGGGAAGAGGCAGTGGCTG	0.662000														51			12		0	0	0.003163	0	0
SPARCL1	8404	broad.mit.edu	37	4	88416266	88416267	+	Missense_Mutation	DNP	AA	TC	TC			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:88416266_88416267AA>TC	uc010ikm.3	-	3	639_640	c.67_68TT>GA	c.(67-69)tta>GAa	p.L23E	SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Missense_Mutation_p.L23E|SPARCL1_uc011cdd.2_5'UTR	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	23					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATCAGATAATAATCTTGCATTT	0.342000														75			12		0	0	0.004672	0	0
TRA	0	broad.mit.edu	37	14	22180939	22180939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:22180939C>T	uc021roz.1	+	1	219	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		ACCAAGACTCCTTGTTAAAGG	0.502000														189			33		0	0	0.006230	0	0
RP1L1	94137	broad.mit.edu	37	8	10466676	10466676	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:10466676C>T	uc003wtc.3	-	3	5161	c.4932G>A	c.(4930-4932)ggG>ggA	p.G1644G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1644					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGCTGGCTCCCCAGGGCTG	0.687000														32			5		0	0	0.001168	0	0
IDO1	3620	broad.mit.edu	37	8	39776385	39776385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:39776385G>A	uc003xnm.3	+	3	469	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	119					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CAAGAAACTGGAACTGCCTCC	0.358000														62			16		0	0	0.004007	0	0
CRLF2	64109	broad.mit.edu	37	X	1325440	1325440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:1325440C>T	uc004cpk.2	-	2	237	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	CRLF2_uc022brt.1_Missense_Mutation_p.G79S|CRLF2_uc004cpl.2_5'UTR|CRLF2_uc022brs.1_Missense_Mutation_p.G79S	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	79						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAAGTGTGACCTTCCTGGAGA	0.502000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									60			11		0	0	0.010729	0	0
GLRA4	441509	broad.mit.edu	37	X	102974111	102974111	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:102974111G>A	uc011mse.2	-	6	1228	c.807C>T	c.(805-807)atC>atT	p.I269I	GLRA4_uc010nou.2_Silent_p.I269I	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	269						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.L268L(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAGGATGACGATGAGTAGGC	0.557000														55			40		0	0	0.010771	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288254	36288254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:36288254C>T	uc010wdk.1	+	4	524	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	TBC1D3_uc002hoo.2_Missense_Mutation_p.L114F|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.L34F|TBC1D3_uc010cvf.1_Missense_Mutation_p.L114F|TBC1D3_uc002hoq.2_Missense_Mutation_p.L114F|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	114	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGTCAGTCCTCCTGAACAC	0.567000														641			26		0	0	0.013726	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117245	117245	+	RNA	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrGL000205.1:117245C>T	uc002kgk.4	+	0		c.623C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGGAATTCGCCCCCAGATCA	0.527000														49			4		0	0	0.009096	0	0
RNF123	63891	broad.mit.edu	37	3	49749921	49749921	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:49749921C>T	uc003cxh.3	+	26	2592	c.2506C>T	c.(2506-2508)Ctg>Ttg	p.L836L	RNF123_uc010hky.1_Silent_p.L498L|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	836						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGAGAAGATGCTGGACATCTA	0.627000														29			4		0	0	0.009096	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244488	1244488	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:1244488G>A	uc003jby.2	+	10	1619	c.1496_splice	c.e10+1	p.R499_splice		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	499					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAATGAAACGGTGAGCTGCC	0.597000														68			10		0	0	0.008291	0	0
FAM135A	57579	broad.mit.edu	37	6	71269565	71269565	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:71269565G>C	uc003pfj.3	+	19	4622	c.4489G>C	c.(4489-4491)Gat>Cat	p.D1497H	FAM135A_uc003pfi.3_Missense_Mutation_p.D1301H|FAM135A_uc003pfh.3_Missense_Mutation_p.D1284H|FAM135A_uc003pfl.3_Missense_Mutation_p.D1164H|FAM135A_uc003pfn.3_Missense_Mutation_p.D703H|FAM135A_uc010kan.2_Missense_Mutation_p.D239H|FAM135A_uc003pfp.3_Missense_Mutation_p.D61H	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1497										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGCTGTTCTTGATTCGGAAAT	0.378000														26			8		0	0	0.006214	0	0
ATP1A3	478	broad.mit.edu	37	19	42489163	42489163	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:42489163G>A	uc002osh.3	-	7	1054	c.900C>T	c.(898-900)tcC>tcT	p.S300S	ATP1A3_uc010xwf.2_Silent_p.S311S|ATP1A3_uc010xwg.2_Silent_p.S270S|ATP1A3_uc002osg.3_Silent_p.S300S|ATP1A3_uc010xwh.2_Silent_p.S313S			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	300					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGAGAATGAGGGAGAGGATGA	0.572000														26			5		0	0	0.000602	0	0
PAPPA	5069	broad.mit.edu	37	9	118949433	118949433	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:118949433G>A	uc004bjn.3	+	2	797	c.416_splice	c.e2-1	p.G139_splice	PAPPA_uc011lxp.1_Splice_Site|PAPPA_uc011lxq.2_Splice_Site	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	139					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCCACATAGGGCTGTATGAC	0.413000														45			13		0	0	0.013537	0	0
C12orf63	374467	broad.mit.edu	37	12	97133744	97133744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:97133744G>A	uc021rcc.1	+	17	2329	c.2251G>A	c.(2251-2253)Gta>Ata	p.V751I				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	751										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCTGCAATAGTATTTTCTAC	0.313000														30			4		0	0	0.009096	0	0
PDE7B	27115	broad.mit.edu	37	6	136470276	136470276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:136470276C>T	uc003qgp.3	+	4	673	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R176C	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	124					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CTTGTTTGATCGCTTGACAAA	0.338000														35			9		0	0	0.006214	0	0
TRPC6	7225	broad.mit.edu	37	11	101347072	101347072	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:101347072C>T	uc001pgk.4	-	5	2129	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	TRPC6_uc009ywy.3_Silent_p.T452T|TRPC6_uc009ywz.1_Silent_p.T513T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	568					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.T568T(2)|p.T568M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATGTTACTTTCGTCAAGTCCT	0.363000														24			7		0	0	0.003080	0	0
LRRC16B	90668	broad.mit.edu	37	14	24534935	24534935	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:24534935T>C	uc001wlj.2	+	33	3658	c.3501T>C	c.(3499-3501)ggT>ggC	p.G1167G	LRRC16B_uc001wlk.2_Intron	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1167										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGCCAAGGGTTGGAGCTTCG	0.622000														82			22		0	0	0.002780	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139867	40139867	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:40139867G>A	uc003ayg.3	-	6	1892	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	547										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAACACTAATGGAATTCTTTG	0.423000														25			7		0	0	0.001984	0	0
KIAA1383	54627	broad.mit.edu	37	1	232940933	232940933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:232940933C>T	uc001hvh.2	+	0	296	c.164C>T	c.(163-165)cCa>cTa	p.P55L		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	0										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TGTCTTTTACCACTTATATCC	0.378000														148			35		0	0	0.006230	0	0
GPR39	2863	broad.mit.edu	37	2	133402923	133402923	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:133402923A>G	uc002ttl.3	+	1	1575	c.1106A>G	c.(1105-1107)aAc>aGc	p.N369S	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	369						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCACGCCAACCACGAGAAG	0.667000														61			18		0	0	0.004990	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553189	140553189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140553189G>A	uc003lit.3	+	0	947	c.773G>A	c.(772-774)gGt>gAt	p.G258D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	258	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCCGTTGGTTCCATGGTT	0.498000														59			9		0	0	0.006214	0	0
THSD7B	80731	broad.mit.edu	37	2	137872758	137872758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:137872758C>T	uc002tva.1	+	3	1171	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P281S	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)		GCAGCAGGATCCCCACTGGCA	0.542000														32			8		0	0	0.004482	0	0
FANCB	2187	broad.mit.edu	37	X	14863068	14863068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:14863068G>A	uc004cwg.1	-	7	2105	c.1837C>T	c.(1837-1839)Cgt>Tgt	p.R613C	FANCB_uc004cwh.1_Missense_Mutation_p.R613C	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	613					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACAACATAACGATCTTTAGGA	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					60			51		0	0	0.014410	0	0
SGCZ	137868	broad.mit.edu	37	8	14181710	14181710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:14181710C>T	uc003wwq.3	-	2	898	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	SGCZ_uc010lss.3_Intron	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	67					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G80F(2)		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)		TTTCCCATACCATCCTACAAG	0.363000														36			9		0	0	0.006214	0	0
PDZRN3	23024	broad.mit.edu	37	3	73440172	73440172	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:73440172A>C	uc003dpl.1	-	5	1446	c.1350T>G	c.(1348-1350)agT>agG	p.S450R	PDZRN3_uc011bgh.1_Missense_Mutation_p.S107R|PDZRN3_uc010hoe.1_Missense_Mutation_p.S148R|PDZRN3_uc011bgf.1_Missense_Mutation_p.S167R|PDZRN3_uc011bgg.1_Missense_Mutation_p.S170R	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	450	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTTGTACCTCACTGATATAAA	0.443000														155			46		0	0	0.014410	0	0
MYT1	4661	broad.mit.edu	37	20	62848451	62848451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr20:62848451C>T	uc002yii.3	+	10	2027	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	MYT1_uc002yih.3_Missense_Mutation_p.P257S|MYT1_uc002yij.3_Missense_Mutation_p.P187S	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	555					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCTCGAGGTCCCTCCATATGG	0.632000														93			15		0	0	0.004007	0	0
LRRC7	57554	broad.mit.edu	37	1	70225938	70225938	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:70225938C>T	uc001dep.3	+	0	81	c.51C>T	c.(49-51)ttC>ttT	p.F17F	LRRC7_uc001deo.1_Silent_p.F55F|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	17						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCGATGTTTCCGAGGTGAAG	0.468000														25			9		0	0	0.006214	0	0
KIF20B	9585	broad.mit.edu	37	10	91474907	91474907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:91474907C>T	uc001kgs.1	+	7	980	c.908C>T	c.(907-909)tCc>tTc	p.S303F	KIF20B_uc001kgr.1_Missense_Mutation_p.S303F	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	303	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTGCGCCTTTCCCAAGACGTA	0.328000														33			7		0	0	0.003080	0	0
OR51M1	390059	broad.mit.edu	37	11	5411114	5411114	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5411114C>T	uc010qzc.2	+	0	508	c.486C>T	c.(484-486)ttC>ttT	p.F162F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	162						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTCATCTTCCGGGGACCTG	0.542000														231			55		0	0	0.014410	0	0
FGD6	55785	broad.mit.edu	37	12	95603226	95603226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:95603226C>T	uc001tdp.4	-	1	2058	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	612					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGCACTTTTCCACATCCATA	0.413000														119			27		0	0	0.006320	0	0
CSMD2	114784	broad.mit.edu	37	1	34080129	34080129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:34080129C>T	uc001bxm.1	-	39	6285	c.6108G>A	c.(6106-6108)tgG>tgA	p.W2036*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1996	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCTATTTTCCAGGAGCAGT	0.567000														26			4		0	0	0.009096	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69424032	69424032	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:69424032C>T	uc004afn.3	+	14	2440	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	776										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAAGACTTCGTGCTAGAAG	0.348000														72			40		0	0	0.006999	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709534	31709534	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:31709534G>A	uc002ynx.1	-	0	479	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.	151						intermediate filament		p.F151F(4)|p.F151S(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CCAGAGTTTCGAAATTTTTAG	0.493000														151			38		0	0	0.006999	0	0
COL2A1	1280	broad.mit.edu	37	12	48369372	48369372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:48369372G>A	uc001rqu.3	-	50	3795	c.3614C>T	c.(3613-3615)cCt>cTt	p.P1205L	COL2A1_uc001rqt.3_5'UTR|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P1136L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1205	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.E1204D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGGGGGTCCAGGATTTCCAGG	0.597000														40			4		0	0	0.001168	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813400	106813400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:106813400C>T	uc003ymd.3	+	7	1113	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	ZFPM2_uc011lhs.2_Nonsense_Mutation_p.R95*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	364					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCTGCCTTCCGATGTAATCA	0.507000														144			24		0	0	0.003954	0	0
CCDC170	80129	broad.mit.edu	37	6	151939132	151939132	+	Silent	SNP	C	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:151939132C>A	uc003qol.3	+	10	2087	c.1998C>A	c.(1996-1998)acC>acA	p.T666T	U6_uc021zgw.1_5'Flank	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	666																	TGAACGTGACCAGCCTTGCTC	0.443000														73			7		0.000274275	0.000297651	0.004482	1	0
FAM113B	91523	broad.mit.edu	37	12	47629132	47629132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:47629132C>T	uc001rpq.3	+	1	811	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	FAM113B_uc001rpn.3_Missense_Mutation_p.R96C|FAM113B_uc021qxi.1_Missense_Mutation_p.R96C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	96							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CTTCCTCACCCGCGTGTACTC	0.597000														128			20		0	0	0.012319	0	0
NLRP2	55655	broad.mit.edu	37	19	55489158	55489158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:55489158G>A	uc021vbq.1	+	3	475	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	NLRP2_uc010yfp.2_Missense_Mutation_p.E99K|NLRP2_uc002qij.3_Missense_Mutation_p.E122K|NLRP2_uc010esp.3_Missense_Mutation_p.E122K|NLRP2_uc010esn.3_Intron|NLRP2_uc010eso.3_Missense_Mutation_p.E122K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	122					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGACGTGGACGAAATGCTGGA	0.552000														50			21		0	0	0.014323	0	0
CDHR2	54825	broad.mit.edu	37	5	176022617	176022617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:176022617G>A	uc021yie.1	+	31	4151	c.3877G>A	c.(3877-3879)Gga>Aga	p.G1293R	CDHR2_uc003mem.2_Missense_Mutation_p.G1293R|CDHR2_uc003men.1_Missense_Mutation_p.G1293R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1293					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGGCGCAAGTGGACAGCTGGA	0.652000														112			31		0	0	0.012213	0	0
SPP1	6696	broad.mit.edu	37	4	88903754	88903754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:88903754G>A	uc003hra.3	+	6	816	c.651G>A	c.(649-651)tgG>tgA	p.W217*	SPP1_uc011cde.2_Nonsense_Mutation_p.W230*|SPP1_uc003hrb.3_Nonsense_Mutation_p.W190*|SPP1_uc003hrc.3_Nonsense_Mutation_p.W203*|SPP1_uc003hrd.3_Nonsense_Mutation_p.W176*	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	217					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CTTCTGATTGGGACAGCCGTG	0.532000														87			28		0	0	0.009535	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513009	70513009	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:70513009G>A	uc011caq.2	-	1	470	c.354C>T	c.(352-354)ttC>ttT	p.F118F	UGT2A1_uc010ihu.3_Silent_p.F118F|UGT2A1_uc003hem.4_Silent_p.F118F|UGT2A1_uc010iht.3_Silent_p.F118F	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	118					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACACCATGTGGAAGTCCTTGA	0.428000														43			11		0	0	0.013537	0	0
NAA30	122830	broad.mit.edu	37	14	57876110	57876110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:57876110C>T	uc001xcx.4	+	4	1119	c.965C>T	c.(964-966)aCc>aTc	p.T322I	NAA30_uc010trk.2_Missense_Mutation_p.T64I|NAA30_uc010aow.3_Non-coding_Transcript	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.	322	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GTTTTGGAAACCGAAATAACA	0.269000														23			5		0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508193	37508193	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:37508193A>T	uc021ppc.1	+	33	3484	c.3385A>T	c.(3385-3387)Aaa>Taa	p.K1129*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.K1129*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTGAAGGAAAAACAAGACAA	0.373000														77			10		0	0	0.006214	0	0
ARL4D	379	broad.mit.edu	37	17	41477377	41477377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:41477377C>T	uc002idt.3	+	1	458	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	ARL4D_uc021txy.1_Missense_Mutation_p.R93W	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	93					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TTATACCCGCCGGACAGACGG	0.652000														76			13		0	0	0.004007	0	0
KLHL17	339451	broad.mit.edu	37	1	898516	898516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:898516G>A	uc001aca.2	+	6	1177	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_Missense_Mutation_p.E106K	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	357	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCATCCACGGAGACTGTGAG	0.711000														25			4		0	0	0.009096	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855737	12855737	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:12855737C>T	uc001auj.2	+	3	1120	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	339										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTGAACCCCTCGGAGCTC	0.532000														187			35		0	0	0.008740	0	0
PKIA	5569	broad.mit.edu	37	8	79510760	79510760	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:79510760C>T	uc003yba.3	+	2	665	c.141C>T	c.(139-141)atC>atT	p.I47I	PKIA_uc003ybb.3_Silent_p.I47I|PKIA_uc010lzo.3_Silent_p.I47I	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	47							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GTCTTGATATCAACAAGACAG	0.408000														78			14		0	0	0.004007	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702230	60702230	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:60702230C>T	uc001nqi.3	+	8	2026	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	TMEM132A_uc001nqj.3_Silent_p.S610S	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	610	Binds to HSPA5/GRP78 (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTGTCACCTCCATTGAGGTAA	0.662000														54			9		0	0	0.013537	0	0
TNR	7143	broad.mit.edu	37	1	175332868	175332868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:175332868G>A	uc001gkp.1	-	10	2764	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	TNR_uc009wwu.1_Nonsense_Mutation_p.R895*	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	895	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R895*(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATGATACTCGGTAGTAATCG	0.438000														52			9		0	0	0.006214	0	0
GABRE	2564	broad.mit.edu	37	X	151128326	151128326	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:151128326T>A	uc004ffi.3	-	5	823	c.769A>T	c.(769-771)Atc>Ttc	p.I257F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	257					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTTGTGATTATTTCAGTT	0.448000														17			17		0	0	0.007413	0	0
WDR33	55339	broad.mit.edu	37	2	128477054	128477054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:128477054G>A	uc002tpg.2	-	15	2744	c.2545C>T	c.(2545-2547)Ccc>Tcc	p.P849S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	849					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AATTCCTGGGGAGGTCCCAGC	0.647000														52			10		0	0	0.008291	0	0
DNM3	26052	broad.mit.edu	37	1	172007500	172007500	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:172007500G>A	uc001gie.3	+	6	1067	c.891G>A	c.(889-891)agG>agA	p.R297R	DNM3_uc001gid.4_Silent_p.R297R|DNM3_uc009wwb.2_Silent_p.R297R|DNM3_uc001gif.3_Silent_p.R297R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	297					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						CAAACTTCAGGAACAAACTAC	0.388000														65			10		0	0	0.006214	0	0
OAZ3	51686	broad.mit.edu	37	1	151740538	151740538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:151740538G>A	uc010pdm.2	+	3	375	c.305G>A	c.(304-306)gGg>gAg	p.G102E	OAZ3_uc010pdl.2_Missense_Mutation_p.G58E	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	55					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	TTCCAGGCTGGGAACTTGACG	0.547000														57			10		0	0	0.006214	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797452	106797452	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:106797452C>T	uc003vdx.3	+	8	1117	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	314					G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATTCTTTTTTCATTGTAGAAT	0.348000														82			21		0	0	0.010504	0	0
ZNF445	353274	broad.mit.edu	37	3	44491977	44491978	+	Missense_Mutation	DNP	TC	CA	CA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:44491977_44491978TC>CA	uc003cnf.2	-	5	1129_1130	c.781_782GA>TG	c.(781-783)gat>TGt	p.D261C	ZNF445_uc011azv.1_Missense_Mutation_p.D249C|ZNF445_uc011azw.1_Missense_Mutation_p.D261C	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	261	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CAGCATCACATCCCTGTACAGG	0.480000														45			17		0	0	0.004672	0	0
LCTL	197021	broad.mit.edu	37	15	66855937	66855937	+	Missense_Mutation	SNP	C	T	T	rs113055189		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:66855937C>T	uc002aqc.3	-	3	529	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	LCTL_uc002aqd.4_5'UTR|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	133					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.E133K(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGTAGAATTCGATTCCCTTC	0.527000														38			8		0	0	0.003080	0	0
MYO5B	4645	broad.mit.edu	37	18	47563340	47563340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:47563340G>A	uc002leb.2	-	3	623	c.335C>T	c.(334-336)cCt>cTt	p.P112L	MYO5B_uc021ukb.1_Missense_Mutation_p.P111L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	112	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGTTCATAAGGATTAATGGC	0.463000														21			9		0	0	0.006214	0	0
HDAC9	9734	broad.mit.edu	37	7	18688140	18688140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:18688140C>T	uc003sui.3	+	9	1342	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	HDAC9_uc003sue.3_Missense_Mutation_p.S431L|HDAC9_uc011jyd.2_Missense_Mutation_p.S431L|HDAC9_uc003suh.3_Missense_Mutation_p.S431L|HDAC9_uc003suj.3_Missense_Mutation_p.S390L|HDAC9_uc011jya.2_Missense_Mutation_p.S429L|HDAC9_uc003sua.1_Missense_Mutation_p.S409L|HDAC9_uc003sud.2_Missense_Mutation_p.S431L|HDAC9_uc011jyc.2_Missense_Mutation_p.S390L|HDAC9_uc011jyb.2_Missense_Mutation_p.S387L|HDAC9_uc003suf.2_Missense_Mutation_p.S462L|HDAC9_uc010kud.2_Missense_Mutation_p.S434L|HDAC9_uc011jye.2_Missense_Mutation_p.S403L|HDAC9_uc011jyf.2_Missense_Mutation_p.S354L|HDAC9_uc010kue.1_Missense_Mutation_p.S174L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	431					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGAGAATTTCACCTGGCATT	0.473000														54			14		0	0	0.003163	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:211179661C>T	uc002vec.3	-	0	235	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000														164			96		0	0	0.014410	0	0
C3orf71	646450	broad.mit.edu	37	3	48956243	48956243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:48956243C>T	uc010hkk.1	-	0	576	c.340G>A	c.(340-342)Gat>Aat	p.D114N	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	114						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						CGACCCCGATCCGGAAGTGAC	0.682000														30			6		0	0	0.001984	0	0
ADORA2A	135	broad.mit.edu	37	22	24837103	24837103	+	Silent	SNP	C	T	T	rs17650937	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:24837103C>T	uc002zzx.3	+	4	1648	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.F295F|ADORA2A_uc011ajs.2_Silent_p.F156F|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Silent_p.F295F|ADORA2A_uc010gup.3_Silent_p.F295F|ADORA2A_uc003aab.3_Silent_p.F295F|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	295					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCCGCGAGTTCCGCCAGACCT	0.597000														46			9		0	0	0.006214	0	0
EPO	2056	broad.mit.edu	37	7	100320727	100320727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:100320727G>A	uc003uwi.3	+	4	734	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	EPO_uc011kkc.1_Missense_Mutation_p.G184R	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	185					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCTGTACACAGGGGAGGCCTG	0.587000														94			13		0	0	0.013537	0	0
TNN	63923	broad.mit.edu	37	1	175116171	175116171	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:175116171G>A	uc001gkl.1	+	18	3977	c.3864G>A	c.(3862-3864)aaG>aaA	p.K1288K		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1288					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGGCAGAAAGAAGCGGACGC	0.587000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			4		0	0	0.009096	0	0
ZNF786	136051	broad.mit.edu	37	7	148767963	148767963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:148767963G>A	uc003wfh.2	-	3	2038	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	ZNF786_uc011kuk.1_Missense_Mutation_p.A597V|ZNF786_uc003wfi.2_Missense_Mutation_p.A548V	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTCATGTCGGCCTTCACGCG	0.612000														52			13		0	0	0.013537	0	0
CDH18	1016	broad.mit.edu	37	5	19473723	19473723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:19473723C>T	uc003jgd.3	-	12	2519	c.1985G>A	c.(1984-1986)gGa>gAa	p.G662E	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.G662E|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E661D(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTCTCCGCCTCCTTCATCATC	0.498000														143			36		0	0	0.003755	0	0
AKNA	80709	broad.mit.edu	37	9	117106021	117106021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:117106021G>A	uc004biq.3	-	17	3859	c.3724C>T	c.(3724-3726)Ccc>Tcc	p.P1242S	AKNA_uc004bin.3_Missense_Mutation_p.P489S|AKNA_uc004bio.3_Missense_Mutation_p.P702S|AKNA_uc004bip.3_Missense_Mutation_p.P1161S|AKNA_uc004bir.3_Missense_Mutation_p.P1242S|AKNA_uc004bis.3_Missense_Mutation_p.P1242S|AKNA_uc010mve.2_Missense_Mutation_p.P1123S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGCAGTGGGGACAGGAGACT	0.582000														48			15		0	0	0.004990	0	0
MMP13	4322	broad.mit.edu	37	11	102825186	102825186	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:102825186C>T	uc001phl.3	-	3	540	c.511_splice	c.e3+1	p.E171_splice		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	171					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGCATCATTACCCTTAATTCC	0.294000														10			5		0	0	0.000602	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631427	77631427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:77631427C>T	uc011cbx.2	+	2	1395	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	SHROOM3_uc011cbz.1_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	148					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTTAAACTTCGGCTGAAGCA	0.577000														30			9		0	0	0.006214	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059449	152059449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:152059449C>T	uc001ezo.1	-	2	774	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	237							calcium ion binding	p.D236A(1)		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)			CTGGCTGGTTCATCTCCTTCC	0.463000														84			16		0	0	0.004007	0	0
GART	2618	broad.mit.edu	37	21	34903147	34903147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:34903147G>A	uc002yrz.3	-	6	952	c.641C>T	c.(640-642)cCa>cTa	p.P214L	GART_uc002yrx.3_Missense_Mutation_p.P214L|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.P214L|GART_uc002ysa.2_Missense_Mutation_p.P214L	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	214	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GTCCTGTGCTGGGGGCATGGG	0.463000														36			6		0	0	0.003080	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766131	19766131	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:19766131T>A	uc002nnh.4	-	10	1556	c.1528A>T	c.(1528-1530)Aag>Tag	p.K510*	ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Nonsense_Mutation_p.K392*	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	510					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCACAGAGCTTGGCCAGGGCG	0.632000														36			7		0	0	0.003080	0	0
CDH23	64072	broad.mit.edu	37	10	73461880	73461880	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:73461880C>T	uc001jrx.4	+	21	2883	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	CDH23_uc001jry.3_Silent_p.I831I|CDH23_uc001jrz.3_Silent_p.I831I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	833	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.L831P(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGGGCAAGATCCGCACCACCC	0.602000														102			22		0	0	0.002780	0	0
HIST4H4	121504	broad.mit.edu	37	12	14923804	14923804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:14923804G>A	uc001rcf.4	-	0	262	c.215C>T	c.(214-216)aCt>aTt	p.T72I	HIST4H4_uc001rce.3_Non-coding_Transcript	NM_175054	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA.	72					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CTCCGTGTAAGTCACCGCGTC	0.607000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			13		0	0	0.013537	0	0
SOAT2	8435	broad.mit.edu	37	12	53517624	53517624	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:53517624G>A	uc001sbv.3	+	13	1573	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	495					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACTGCCAGGAGTGGTACGCAC	0.602000														41			11		0	0	0.008291	0	0
CACNG4	27092	broad.mit.edu	37	17	65027082	65027082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:65027082C>T	uc002jft.2	+	3	994	c.946C>T	c.(946-948)Cac>Tac	p.H316Y		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	316					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGAAGGTTTCCACGTCAGCAT	0.612000														46			16		0	0	0.004990	0	0
MYH2	4620	broad.mit.edu	37	17	10451105	10451105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:10451105C>T	uc010coi.3	-	2	261	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E45K|MYH2_uc010coj.3_Missense_Mutation_p.E45K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	45	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.E45K(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						ACAAAGGATTCTTTGGGCTCC	0.532000														84			19		0	0	0.012319	0	0
C12orf56	115749	broad.mit.edu	37	12	64746779	64746779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:64746779G>A	uc021qzu.1	-	1	310	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.R104C	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	104										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TAGATGATACGAATGTGTTGG	0.328000														76			27		0	0	0.007291	0	0
CRMP1	1400	broad.mit.edu	37	4	5868434	5868434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:5868434G>A	uc003gis.3	-	1	520	c.431C>T	c.(430-432)tCc>tTc	p.S144F	CRMP1_uc003giq.3_Missense_Mutation_p.S30F|CRMP1_uc003gir.3_Missense_Mutation_p.S25F	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	30					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AGCATAAAGGGATTGGTCATC	0.473000														63			23		0	0	0.005443	0	0
MGAT5	4249	broad.mit.edu	37	2	135206361	135206361	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:135206361C>T	uc002ttw.4	+	15	2314	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	723					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ACCAGAGGGTCTGCCCCTGCC	0.597000														57			5		0	0	0.000602	0	0
DMRT3	58524	broad.mit.edu	37	9	990637	990637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:990637C>T	uc003zgw.1	+	1	1089	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	351					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CAACGTTGTCCCCAGTCCCTT	0.592000														45			9		0	0	0.008291	0	0
CDH23	64072	broad.mit.edu	37	10	73468967	73468967	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:73468967C>T	uc001jrx.4	+	26	3604	c.3214_splice	c.e26+1	p.D1072_splice	CDH23_uc001jrz.3_Splice_Site_p.D1072_splice	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1074	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGAGGCCATCGGTATGCACC	0.607000														40			10		0	0	0.013537	0	0
RYR2	6262	broad.mit.edu	37	1	237947118	237947118	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:237947118G>T	uc001hyl.1	+	89	12226	c.12106G>T	c.(12106-12108)Gac>Tac	p.D4036Y	RYR2_uc010pya.2_Missense_Mutation_p.D451Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4036	EF-hand.				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	p.P4035P(1)		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)			TAAAGAATATGACCCCGATGG	0.413000														22			4		0.00909568	0.00981511	0.009096	1	0
MUC16	94025	broad.mit.edu	37	19	9065879	9065879	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:9065879G>A	uc002mkp.3	-	2	21771	c.21567C>T	c.(21565-21567)ccC>ccT	p.P7189P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7191	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						GTCCAGAGCTGGGAATCTCCA	0.502000														113			30		0	0	0.007291	0	0
RGPD4	285190	broad.mit.edu	37	2	108487685	108487685	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:108487685G>A	uc010ywk.2	+	19	3307	c.3225G>A	c.(3223-3225)agG>agA	p.R1075R	RGPD4_uc002tdu.3_Silent_p.R262R|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1075	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGAGGTAAGGCAGTGGAAAG	0.383000														369			66		0	0	0.014410	0	0
PAMR1	25891	broad.mit.edu	37	11	35461194	35461194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:35461194G>A	uc001mwf.3	-	8	1175	c.1132C>T	c.(1132-1134)Ccg>Tcg	p.P378S	PAMR1_uc001mwg.3_Missense_Mutation_p.P361S|PAMR1_uc010rew.2_Missense_Mutation_p.P250S|PAMR1_uc010rex.2_Missense_Mutation_p.P321S	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	361					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACCTGCATCGGAAGAACTCTC	0.463000														113			22		0	0	0.008361	0	0
MICAL2	9645	broad.mit.edu	37	11	12270761	12270761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:12270761C>T	uc001mjz.3	+	21	3103	c.2815C>T	c.(2815-2817)Cat>Tat	p.H939Y	MICAL2_uc010rch.1_Missense_Mutation_p.H749Y|MICAL2_uc001mka.3_Missense_Mutation_p.H939Y|MICAL2_uc010rci.2_Intron|MICAL2_uc001mkb.3_Missense_Mutation_p.H749Y|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Missense_Mutation_p.H151Y|MICAL2_uc001mkf.3_Intron	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	939						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		gttccattttcatcccagcca	0.468000														39			9		0	0	0.004482	0	0
NPHP4	261734	broad.mit.edu	37	1	5927849	5927849	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:5927849G>A	uc001alq.2	-	23	3691	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	NPHP4_uc001alr.1_Silent_p.L83L	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1141					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.E1140E(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGAAGGAGAGCTCCGGGT	0.637000														59			14		0	0	0.002450	0	0
TLR7	51284	broad.mit.edu	37	X	12904184	12904184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:12904184G>A	uc004cvc.3	+	2	696	c.557G>A	c.(556-558)cGa>cAa	p.R186Q		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	186					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)	TGTTATTATCGAAATCCTTGT	0.388000														15			9		0	0	0.004482	0	0
CREG2	200407	broad.mit.edu	37	2	102000038	102000038	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:102000038T>C	uc002tba.2	-	1	614	c.568A>G	c.(568-570)Atg>Gtg	p.M190V		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 2 (CREG2), mRNA.	190						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGCGAGGCCATGGGGTTCTTC	0.547000														41			10		0	0	0.010729	0	0
A2ML1	144568	broad.mit.edu	37	12	9004870	9004870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:9004870C>T	uc001quz.4	+	19	2626	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	A2ML1_uc001qva.1_Missense_Mutation_p.S423F|A2ML1_uc010sgm.2_Missense_Mutation_p.S343F	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	687						extracellular space	endopeptidase inhibitor activity	p.T842T(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCAGACCTCCAGTTGTCTC	0.493000														154			39		0	0	0.006230	0	0
AKAP9	10142	broad.mit.edu	37	7	91691662	91691662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:91691662C>T	uc003ulg.3	+	23	6064	c.5839C>T	c.(5839-5841)Cgt>Tgt	p.R1947C	AKAP9_uc003ulf.3_Missense_Mutation_p.R1947C|AKAP9_uc003uli.3_Missense_Mutation_p.R1570C	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1959	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATAATAGATCGTCTTGAGCA	0.358000			T	BRAF	papillary thyroid									116			26		0	0	0.006320	0	0
HOXC5	3222	broad.mit.edu	37	12	54427123	54427123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:54427123C>T	uc001sew.3	+	0	292	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	73					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCACCCCGACCGCCCCGCCTG	0.687000														24			7		0	0	0.003080	0	0
ZG16B	124220	broad.mit.edu	37	16	2881912	2881912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:2881912C>T	uc002cru.3	+	3	455	c.379C>T	c.(379-381)Caa>Taa	p.Q127*		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	127						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGTCGCCTTCCAAGCTTTCCT	0.532000														50			12		0	0	0.001855	0	0
SATB2	23314	broad.mit.edu	37	2	200188671	200188671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:200188671G>A	uc002uuy.2	-	8	2214	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	SATB2_uc010fsq.2_Missense_Mutation_p.S348L|SATB2_uc002uva.2_Missense_Mutation_p.S466L|SATB2_uc002uuz.2_Missense_Mutation_p.S466L	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	466						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCGGTGTCGAGGTTTTGGC	0.453000														85			18		0	0	0.008871	0	0
CRELD2	79174	broad.mit.edu	37	22	50320941	50320941	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:50320941C>A	uc010hal.2	+	10	1330	c.1195C>A	c.(1195-1197)Cgc>Agc	p.R399S	CRELD2_uc003bja.2_Missense_Mutation_p.R350S|CRELD2_uc010hak.2_Missense_Mutation_p.R322S|CRELD2_uc010ham.2_Missense_Mutation_p.R318S	NM_001135101	NP_001128573	Q6UXH1	CREL2_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.	350						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGCCCTCCCGCGAAGACCT	0.547000														130			5		0.00198382	0.00214679	0.001984	1	0
C19orf29-AS1	404665	broad.mit.edu	37	19	3612182	3612182	+	Missense_Mutation	SNP	G	T	T	rs147636108	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:3612182G>T	uc021umw.1	+	2	648	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	C19orf29_uc010xho.2_Silent_p.I131I|C19orf29_uc010dtn.3_Silent_p.I520I|C19orf29_uc002lyh.3_Silent_p.I672I|C19orf29_uc002lyi.4_Silent_p.I672I|C19orf29_uc010dto.3_Non-coding_Transcript					Homo sapiens C19orf29 antisense RNA 1 (non-protein coding) (C19orf29-AS1), non-coding RNA.																		ATCCCTGCACGATCTTGGGCG	0.582000														165			51		1.27862e-28	1.40086e-28	0.014410	1	0
SV2A	9900	broad.mit.edu	37	1	149880812	149880812	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:149880812G>A	uc001etg.3	-	7	1802	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Silent_p.S437S	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	437					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACCAAAACAGGAGAGAAAAT	0.512000														69			12		0	0	0.013537	0	0
OR5M10	390167	broad.mit.edu	37	11	56345152	56345152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56345152C>T	uc001niz.1	-	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCTGTCAGTCCTAAGAGAATG	0.453000														89			36		0	0	0.004289	0	0
ZNF638	27332	broad.mit.edu	37	2	71591308	71591308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:71591308C>T	uc002shx.3	+	4	1966	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	ZNF638_uc010fec.2_Missense_Mutation_p.P654L|ZNF638_uc010yqw.1_Missense_Mutation_p.P127L|ZNF638_uc002shw.3_Missense_Mutation_p.P548L|ZNF638_uc002shz.3_Missense_Mutation_p.P548L|ZNF638_uc002shy.3_Missense_Mutation_p.P548L|ZNF638_uc002sia.3_Missense_Mutation_p.P548L|ZNF638_uc002sib.1_Missense_Mutation_p.P548L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	548	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATTAGAAATCCATTTAGAGGT	0.423000														32			9		0	0	0.004482	0	0
FSTL5	56884	broad.mit.edu	37	4	162459348	162459348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:162459348G>A	uc003iqh.3	-	9	1718	c.1282C>T	c.(1282-1284)Ctt>Ttt	p.L428F	FSTL5_uc003iqi.3_Missense_Mutation_p.L427F|FSTL5_uc010iqv.3_Missense_Mutation_p.L427F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	428						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCACAAAAAGAGAAGAGATG	0.408000														113			28		0	0	0.010818	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449734	61449734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:61449734G>A	uc002ljl.3	+	1	224	c.128G>A	c.(127-129)cGc>cAc	p.R43H	SERPINB7_uc002ljm.3_Missense_Mutation_p.R43H|SERPINB7_uc010xet.2_Missense_Mutation_p.R43H|SERPINB7_uc010dqg.3_Missense_Mutation_p.R43H	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	43					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GCCCTGGTCCGCTTGGGCGCT	0.468000														65			15		0	0	0.008871	0	0
ITGA7	3679	broad.mit.edu	37	12	56090778	56090778	+	Missense_Mutation	SNP	G	A	A	rs146411608	by1000genomes	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:56090778G>A	uc001shh.3	-	11	1874	c.1654C>T	c.(1654-1656)Cgt>Tgt	p.R552C	ITGA7_uc001shg.3_Missense_Mutation_p.R548C|ITGA7_uc010sps.2_Missense_Mutation_p.R455C|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.R429C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	592					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCAGGTTACGGCTCAGGAAC	0.617000														40			8		0	0	0.003080	0	0
UNC5D	137970	broad.mit.edu	37	8	35624420	35624420	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:35624420G>A	uc003xjr.2	+	15	2642	c.2314_splice	c.e15-1	p.E772_splice	UNC5D_uc003xjs.2_Splice_Site_p.E767_splice|UNC5D_uc003xju.2_Splice_Site_p.E348_splice	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	772					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCCCTGCAGGAAGTCCCGTT	0.562000														43			4		0	0	0.001168	0	0
DENND3	22898	broad.mit.edu	37	8	142165978	142165978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:142165978G>A	uc003yvy.3	+	7	1143	c.865G>A	c.(865-867)Gat>Aat	p.D289N	DENND3_uc010mep.3_Missense_Mutation_p.D302N|DENND3_uc003yvz.1_5'Flank	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	289	DENN.									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)			GATAAATATTGATCATGGGAG	0.428000														57			11		0	0	0.010729	0	0
DHCR7	1717	broad.mit.edu	37	11	71146863	71146863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:71146863G>A	uc001oqk.3	-	8	1236	c.986C>T	c.(985-987)cCc>cTc	p.P329L	DHCR7_uc001oql.3_Missense_Mutation_p.P329L	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	329					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGCTGCACGGGGTGGTACAC	0.687000									Smith-Lemli-Opitz syndrome					27			14		0	0	0.002450	0	0
OR52A1	23538	broad.mit.edu	37	11	5172693	5172693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:5172693G>A	uc010qyy.2	-	0	907	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAATGCGAATCTGTGTG	0.358000														153			20		0	0	0.002780	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232712	50232712	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:50232712G>A	uc001rvh.3	-	1	363	c.321C>T	c.(319-321)ctC>ctT	p.L107L	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.	107	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TGTCGCAGCAGAGGAGACGGA	0.483000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			11		0	0	0.013537	0	0
DCDC5	100506627	broad.mit.edu	37	11	30946906	30946906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:30946906C>T	uc009yjk.1	-	10	1360	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E90K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	62					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TTCCCCTTTTCATTGTACAAT	0.363000														131			41		0	0	0.013114	0	0
SALL1	6299	broad.mit.edu	37	16	51171346	51171346	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:51171346G>A	uc021tif.1	-	2	3683	c.3361C>T	c.(3361-3363)Cag>Tag	p.Q1121*	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Nonsense_Mutation_p.Q70*	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1218					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAATCCTTCTGGAACATTTCT	0.567000														25			11		0	0	0.008291	0	0
TBX22	50945	broad.mit.edu	37	X	79286045	79286045	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:79286045C>G	uc010nmg.1	+	8	1132	c.998C>G	c.(997-999)tCt>tGt	p.S333C	TBX22_uc004edi.1_Missense_Mutation_p.S213C|TBX22_uc004edj.1_Missense_Mutation_p.S333C	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	333					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGGGCCCCCTCTCCTTTGAAC	0.468000														24			16		0	0	0.003163	0	0
PIGH	5283	broad.mit.edu	37	14	68060610	68060610	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:68060610G>A	uc001xjr.1	-	1	337	c.240C>T	c.(238-240)ctC>ctT	p.L80L	PIGH_uc010tsy.1_Silent_p.L80L	NM_004569	NP_004560	Q14442	PIGH_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class H (PIGH), mRNA.	80					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		TCACAAAATGGAGATAACCAA	0.433000														17			5		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208743	140208743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr5:140208743C>T	uc003lho.2	+	0	1094	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	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_uc003lhn.2_Missense_Mutation_p.S356F|PCDHAC2_uc011dab.2_Missense_Mutation_p.S356F	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S356F(2)		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)			ACTTCCTTATCCTTGCCTGTA	0.498000														93			20		0	0	0.009535	0	0
MUC21	394263	broad.mit.edu	37	6	30955083	30955083	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:30955083C>T	uc003nsh.2	+	1	1382	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.N361N	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	377	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCCACCAACTCTGAGTCCA	0.632000														119			17		0	0	0.006122	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073081	17073081	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr22:17073081C>T	uc002zlp.1	-	0	620	c.360G>A	c.(358-360)gaG>gaA	p.E120E		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	120					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.A119S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCAGCAGCTGCTCTGCCTGTT	0.652000														36			14		0	0	0.001855	0	0
ASH2L	9070	broad.mit.edu	37	8	37968341	37968341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:37968341C>T	uc003xkt.4	+	4	633	c.575C>T	c.(574-576)tCc>tTc	p.S192F	ASH2L_uc011lbk.2_Missense_Mutation_p.S53F|ASH2L_uc003xku.4_Missense_Mutation_p.S98F|ASH2L_uc010lwa.3_Missense_Mutation_p.S98F	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	192					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ACAATGTTCTCCAAAGATAAG	0.398000														27			7		0	0	0.001984	0	0
CRB1	23418	broad.mit.edu	37	1	197390734	197390734	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:197390734C>T	uc001gtz.3	+	5	1985	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CRB1_uc010poz.2_Silent_p.I523I|CRB1_uc009wza.3_Silent_p.I480I|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Silent_p.I592I|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Silent_p.I73I|CRB1_uc001gub.1_Silent_p.I241I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	592	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I592M(2)|p.C591*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAAATGCATCGCGAAAGCTC	0.468000														62			18		0	0	0.007413	0	0
OXGR1	27199	broad.mit.edu	37	13	97639629	97639629	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:97639629T>G	uc001vmx.1	-	3	629	c.385A>C	c.(385-387)Atc>Ctc	p.I129L	OXGR1_uc010afr.1_Missense_Mutation_p.I129L|OXGR1_uc021rlr.1_Missense_Mutation_p.I129L	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	129						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TAGCGGAAGATGCTGAAACAG	0.448000														20			7		0	0	0.001984	0	0
CNGA2	1260	broad.mit.edu	37	X	150909266	150909266	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:150909266G>A	uc004fey.1	+	5	599	c.375_splice	c.e5-1	p.K125_splice		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	125					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCTCAGGAAGAAATTTG	0.507000														46			27		0	0	0.005443	0	0
ODZ3	55714	broad.mit.edu	37	4	183664448	183664448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr4:183664448G>A	uc003ivd.1	+	17	3580	c.3505G>A	c.(3505-3507)Ggt>Agt	p.G1169S	ODZ3_uc003ive.1_Missense_Mutation_p.G575S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1169					signal transduction	integral to membrane		p.D1168H(1)		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)		TCAAGCTGATGGTAACAAGTT	0.537000														31			5		0	0	0.000602	0	0
SCG5	6447	broad.mit.edu	37	15	32935926	32935926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr15:32935926C>T	uc001zha.2	+	1	250	c.133C>T	c.(133-135)Cat>Tat	p.H45Y	SCG5_uc001zgz.2_Missense_Mutation_p.H45Y	NM_001144757	NP_001138229	P05408	7B2_HUMAN	Homo sapiens secretogranin V (7B2 protein) (SCG5), transcript variant 1, mRNA.	45					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	GTP binding|enzyme inhibitor activity|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		GAGGCTGCTTCATGGTGTTAT	0.547000														78			12		0	0	0.010729	0	0
CUL9	23113	broad.mit.edu	37	6	43155482	43155482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:43155482C>T	uc003ouk.3	+	6	1688	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	CUL9_uc003ouj.1_Missense_Mutation_p.S428F|CUL9_uc003oul.3_Missense_Mutation_p.S538F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	538					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.I537I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGAGATCTCTGTGTCCGTG	0.512000														115			21		0	0	0.010504	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946681	144946681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:144946681G>A	uc021ouh.1	-	4	882	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R194W|PDE4DIP_uc001elx.4_Missense_Mutation_p.R260W|PDE4DIP_uc001emd.2_Missense_Mutation_p.R194W|PDE4DIP_uc001emc.2_Missense_Mutation_p.R194W	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	194					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTCTCCCGAGATAGCTGT	0.453000			T	PDGFRB	MPD									64			14		0	0	0.003163	0	0
OR8K3	219473	broad.mit.edu	37	11	56086497	56086497	+	Missense_Mutation	SNP	A	T	T	rs137986069		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:56086497A>T	uc010rjf.2	+	0	715	c.715A>T	c.(715-717)Acc>Tcc	p.T239S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGCTTTTTCTACCTGTGGAGC	0.428000														52			9		0	0	0.006214	0	0
NBEA	26960	broad.mit.edu	37	13	36124729	36124729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr13:36124729G>A	uc021rid.1	+	41	7235	c.6701G>A	c.(6700-6702)cGa>cAa	p.R2234Q	NBEA_uc021ric.1_Missense_Mutation_p.R2231Q|NBEA_uc010abi.3_Missense_Mutation_p.R890Q|NBEA_uc010tee.1_Missense_Mutation_p.R27Q|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.R27Q|NBEA_uc010teg.1_Missense_Mutation_p.R27Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2234						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGCAAACCGAAGTAAGTCC	0.343000														36			6		0	0	0.001168	0	0
KCNU1	157855	broad.mit.edu	37	8	36793081	36793081	+	Silent	SNP	T	C	C			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:36793081T>C	uc010lvw.3	+	26	3180	c.3093T>C	c.(3091-3093)gaT>gaC	p.D1031D		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	1031						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCCTTCAGATCTTGTGTTTT	0.428000														100			24		0	0	0.003330	0	0
PDE6C	5146	broad.mit.edu	37	10	95372614	95372614	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:95372614C>T	uc001kiu.4	+	0	270	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	44					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGGTGCCAGTCCAGTCCAGCA	0.587000														78			16		0	0	0.003163	0	0
PRSS1	5644	broad.mit.edu	37	7	142457353	142457353	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:142457353C>T	uc003wak.2	+	0	35	c.18C>T	c.(16-18)atC>atT	p.I6I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Silent_p.I6I|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	6					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACTCCTGATCCTTACCTTTG	0.562000														57			15		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179467033	179467033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:179467033C>T	uc021vsy.1	-	231	47617	c.47392G>A	c.(47392-47394)Gag>Aag	p.E15798K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9493K|TTN_uc021vta.1_Missense_Mutation_p.E9426K|TTN_uc021vtb.1_Missense_Mutation_p.E9301K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16725	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)			GCAGGGATCTCCCCAGTTGTA	0.373000														55			11		0	0	0.010729	0	0
IRAK4	51135	broad.mit.edu	37	12	44176257	44176257	+	Silent	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:44176257A>G	uc001rnu.3	+	9	1219	c.1089A>G	c.(1087-1089)gaA>gaG	p.E363E	IRAK4_uc001rnt.3_Silent_p.E363E|IRAK4_uc001rnx.3_Silent_p.E239E|IRAK4_uc001rny.3_Silent_p.E239E|IRAK4_uc010sky.1_Silent_p.E239E|IRAK4_uc001rnv.3_Silent_p.E239E|IRAK4_uc001rnw.3_Silent_p.E239E	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	363	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGCGTGGAGAAATAACACCCA	0.388000														44			5		0	0	0.000602	0	0
MUC17	140453	broad.mit.edu	37	7	100683757	100683757	+	Silent	SNP	T	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr7:100683757T>G	uc003uxp.1	+	2	9113	c.9060T>G	c.(9058-9060)acT>acG	p.T3020T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3020	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGACCACTTCTACTGAAG	0.493000														227			64		0	0	0.014410	0	0
SGMS1	259230	broad.mit.edu	37	10	52103686	52103686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:52103686C>T	uc001jje.3	-	6	1143	c.189G>A	c.(187-189)atG>atA	p.M63I	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.M63I|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.M63I|SGMS1_uc021pqo.1_Missense_Mutation_p.M63I|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	69	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGGTTTCTATCATGTCCAGGA	0.532000														60			10		0	0	0.010729	0	0
NRXN3	9369	broad.mit.edu	37	14	79270138	79270139	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr14:79270138_79270139GG>AA	uc001xun.3	+	5	1592_1593	c.1101_1102GG>AA	c.(1099-1104)gggggg>ggAAgg	p.G368R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G502R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	146					angiogenesis|cell adhesion	integral to membrane		p.G368R(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGCTGGATGGGGGGCGTGTCAA	0.535000														37			4		0	0	0.004672	0	0
MUC13	56667	broad.mit.edu	37	3	124646598	124646598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:124646598G>A	uc003ehq.2	-	1	331	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	98	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTAGGTATAGGAATTGTGGAG	0.428000														188			53		0	0	0.014410	0	0
UNC13B	10497	broad.mit.edu	37	9	35236569	35236569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:35236569C>T	uc003zwr.3	+	3	548	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	UNC13B_uc010mkl.1_Missense_Mutation_p.R86C|UNC13B_uc003zwq.3_Missense_Mutation_p.R86C	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	86					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGACTATTCGTCAGTCGGA	0.498000														129			25		0	0	0.007291	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957508	51957508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:51957508C>T	uc002pwt.3	-	5	1277	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	SIGLEC8_uc010yda.2_Missense_Mutation_p.E295K|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.E311K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	404					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.E404Q(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTTGCATCTTCCATGCCTGTA	0.597000														102			16		0	0	0.007413	0	0
KRT16	3868	broad.mit.edu	37	17	39767380	39767380	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39767380G>A	uc002hxg.4	-	3	1013	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	292	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGCTCGTACTGGTCACGCATC	0.607000														108			36		0	0	0.008740	0	0
GPR179	440435	broad.mit.edu	37	17	36483959	36483959	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:36483959C>T	uc002hpz.3	-	10	5514	c.5493G>A	c.(5491-5493)ttG>ttA	p.L1831L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1831						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTTTTGGTCCAATCCCTTCC	0.517000														107			19		0	0	0.012319	0	0
ODZ1	10178	broad.mit.edu	37	X	123805563	123805563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:123805563C>T	uc010nqy.3	-	5	1202	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	ODZ1_uc011muj.2_Missense_Mutation_p.G379R|ODZ1_uc004euj.3_Missense_Mutation_p.G380R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	380					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GAAACTTTTCCTCCAATTGGA	0.403000														37			34		0	0	0.004289	0	0
IL36B	27177	broad.mit.edu	37	2	113783714	113783714	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:113783714G>A	uc002tiq.1	-	4	461	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	119					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						gggttcccatgaagcagctct	0.478000														38			11		0	0	0.013537	0	0
SCN10A	6336	broad.mit.edu	37	3	38760228	38760228	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:38760228G>A	uc003ciq.3	-	19	3597	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1199					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAGCATCTCGAACACAAAGA	0.498000														45			20		0	0	0.008871	0	0
SYT10	341359	broad.mit.edu	37	12	33532766	33532766	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:33532766C>A	uc001rll.1	-	6	1797	c.1500_splice	c.e6+1	p.E500_splice	SYT10_uc009zju.1_Splice_Site_p.E310_splice	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	500						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CACAAGCTTACCTCCAGCAAT	0.418000														65			18		1.87028e-06	2.03934e-06	0.012319	1	0
PMPCA	23203	broad.mit.edu	37	9	139306961	139306961	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:139306961G>A	uc004chl.3	+	2	299	c.294G>A	c.(292-294)tcG>tcA	p.S98S	SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.S98S|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	98					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.S98L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		ATTCAGGATCGAGATATGAAG	0.299000														32			5		0	0	0.000602	0	0
PENK	5179	broad.mit.edu	37	8	57354009	57354009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr8:57354009C>T	uc003xsz.2	-	1	707	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	PENK_uc003xta.3_Missense_Mutation_p.R209Q	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	209					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCCCCATATCGCTTCTGCAG	0.522000														102			39		0	0	0.004878	0	0
LOC399753	399753	broad.mit.edu	37	10	49218498	49218498	+	Silent	SNP	A	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:49218498A>G	uc001jgd.3	-	7	1800	c.1641T>C	c.(1639-1641)tcT>tcC	p.S547S	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		GCTGGCCCAGAGACAGCTCAG	0.582000														111			7		0	0	0.002450	0	0
KRT9	3857	broad.mit.edu	37	17	39724523	39724523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr17:39724523C>T	uc002hxe.4	-	5	1351	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	429	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.E429Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CACTCGATCTCTTGCCGGACG	0.537000														57			13		0	0	0.013537	0	0
HMGCS2	3158	broad.mit.edu	37	1	120298082	120298082	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:120298082G>A	uc001eid.3	-	5	1243	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	HMGCS2_uc010oxj.2_Silent_p.S343S|HMGCS2_uc021osw.1_Silent_p.S151S	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	385					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ACCCGTACAGGGATGAGGTGT	0.562000														445			86		0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181745324	181745324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:181745324G>A	uc009wxt.3	+	37	5422	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1743K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1724K|CACNA1E_uc001gox.1_Missense_Mutation_p.E969K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1743	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTTGGACGAGTTTGTCCG	0.607000														107			23		0	0	0.014323	0	0
FGD5	152273	broad.mit.edu	37	3	14861871	14861871	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr3:14861871G>A	uc003bzc.3	+	0	1403	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	FGD5_uc011avk.2_Silent_p.V431V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	431					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCCCTATGTGATGGGAGTGG	0.647000														40			12		0	0	0.013537	0	0
DOPEY2	9980	broad.mit.edu	37	21	37636076	37636076	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr21:37636076C>T	uc002yvg.3	+	25	5530	c.5451C>T	c.(5449-5451)ccC>ccT	p.P1817P	DOPEY2_uc011aeb.2_Silent_p.P1766P	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1817					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAAGAACTCCCAACCTGGAAA	0.408000														129			27		0	0	0.010818	0	0
OTOGL	283310	broad.mit.edu	37	12	80661098	80661098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr12:80661098C>T	uc001szd.3	+	20	2435	c.2429C>T	c.(2428-2430)tCg>tTg	p.S810L		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCCACACCCTCGGGCTTATGG	0.333000														14			4		0	0	0.000602	0	0
GTF3C2	2976	broad.mit.edu	37	2	27550131	27550131	+	Silent	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr2:27550131G>A	uc002rju.1	-	17	2860	c.2463C>T	c.(2461-2463)ctC>ctT	p.L821L	MPV17_uc002rjt.3_5'Flank|GTF3C2_uc010eyy.1_Silent_p.L265L|GTF3C2_uc002rjv.1_Silent_p.L810L|GTF3C2_uc002rjw.1_Silent_p.L810L	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	810						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCTCTACGGAGCAGATCAT	0.512000														36			7		0	0	0.003080	0	0
OR5D13	390142	broad.mit.edu	37	11	55541318	55541318	+	Silent	SNP	C	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr11:55541318C>T	uc010ril.2	+	0	405	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTGTATACCACTATTATGT	0.418000														225			34		0	0	0.004878	0	0
SPOCK2	9806	broad.mit.edu	37	10	73823966	73823966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr10:73823966G>A	uc001jso.2	-	8	1406	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Nonsense_Mutation_p.Q321*	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	321	Thyroglobulin type-1.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCCTGGATCTGGATGCGCTCC	0.652000														39			8		0	0	0.004482	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502479	90502479	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr9:90502479G>A	uc004app.4	+	3	3112	c.3077G>A	c.(3076-3078)tGg>tAg	p.W1026*		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1026						integral to membrane											GGGTCCCAGTGGGCAAGGGCT	0.592000														38			13		0	0	0.013537	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	GG	GG			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:89448604_89448605insGG	uc021opo.1	-	0	905_906	c.905_906insCC	c.(904-906)ccafs	p.P302fs	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Frame_Shift_Ins_p.P302fs|RBMXL1_uc001dms.3_Frame_Shift_Ins_p.P302fs	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	302	Ser-rich.						RNA binding|nucleotide binding										CACCATAAGATGGCGGGGGCCC	0.475													---	210	---	---	7	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	52	---	---	12	---					
PRL	5617	broad.mit.edu	37	6	22287724	22287734	+	Frame_Shift_Del	DEL	ATAATAAGCAG	-	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr6:22287724_22287734delATAATAAGCAG	uc003ndp.3	-	4	1100_1110	c.581_591delCTGCTTATTAT	c.(580-591)tctgcttattatfs	p.S194fs	PRL_uc003ndo.3_Frame_Shift_Del_p.S195fs|PRL_uc003ndq.3_Frame_Shift_Del_p.S194fs	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	194					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGAGCAGGTTATAATAAGCAGAAAGGCGAGA	0.460													---	59	---	---	7	---					
TPSG1	25823	broad.mit.edu	37	16	1272296	1272304	+	In_Frame_Del	DEL	ACGGAGACT	-	-	rs146081704	byFrequency	TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr16:1272296_1272304delACGGAGACT	uc002ckw.2	-	4	551_559	c.549_557delAGTCTCCGT	c.(547-558)aaagtctccgtg>aag	p.VSV184del		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	184	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				TGTGTCCACCACGGAGACTTTCACCTCCC	0.699													---	109	---	---	15	---					
EPB41L3	23136	broad.mit.edu	37	18	5395607	5395607	+	Splice_Site	DEL	C	-	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:5395607delC	uc002kmt.1	-	20	3158	c.3072_splice	c.e20+1	p.K1024_splice	EPB41L3_uc010wzh.1_Splice_Site_p.K855_splice|EPB41L3_uc002kmu.1_Splice_Site_p.K802_splice|EPB41L3_uc010dkq.1_Splice_Site_p.K693_splice|EPB41L3_uc002kms.1_Splice_Site_p.K259_splice|EPB41L3_uc010wze.1_Splice_Site_p.K329_splice|EPB41L3_uc010wzf.1_Splice_Site_p.K321_splice|EPB41L3_uc010wzg.1_Splice_Site_p.K296_splice|EPB41L3_uc010dkr.2_Splice_Site_p.K416_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1024	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACTCCACTTACTTTGGTGATG	0.542													---	160	---	---	46	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	GGC	GGC	rs71338073		TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr18:77623691_77623692insGGC	uc010xfl.2	+	0	24_25	c.24_25insGGC	c.(22-27)insGGC	p.13_14insG		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	13	Poly-Gly.				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													---	3	---	---	4	---					
MFSD12	126321	broad.mit.edu	37	19	3542858	3542859	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:3542858_3542859insG	uc002lxw.3	-	9	1707_1708	c.1537_1538insC	c.(1537-1539)ctgfs	p.L513fs	MFSD12_uc002lxx.3_Intron|MFSD12_uc010dtl.1_5'Flank|C19orf71_uc010xhm.2_Intron	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTCCAGGCCAGGGGGGCTTCC	0.629													---	46	---	---	9	---					
COL5A3	50509	broad.mit.edu	37	19	10112552	10112552	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:10112552delG	uc002mmq.1	-	6	941	c.855delC	c.(853-855)tccfs	p.S285fs		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	285	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGATGTCAGTGGAGGTCTGGA	0.607											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	59	---	---	9	---					
ZNF473	25888	broad.mit.edu	37	19	50549329	50549330	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chr19:50549329_50549330insT	uc002prn.3	+	4	1866_1867	c.1629_1630insT	c.(1627-1632)ggatttfs	p.G543fs	ZNF473_uc002prm.3_Frame_Shift_Ins_p.G543fs|ZNF473_uc010ybo.2_Frame_Shift_Ins_p.G531fs	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	543	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAAAACAAGGATTTTTTGTGAG	0.446													---	61	---	---	9	---					
S100G	795	broad.mit.edu	37	X	16669137	16669148	+	In_Frame_Del	DEL	CTAAAAAGTCTC	-	-			TCGA-EE-A2MC-06A-12D-A197-08	TCGA-EE-A2MC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3aeaffa-4945-401e-8d62-6dd7e409850b	c44834c6-cc01-4012-9684-adabd1c3b24b	g.chrX:16669137_16669148delCTAAAAAGTCTC	uc004cxn.1	+	1	62_73	c.8_19delCTAAAAAGTCTC	c.(7-21)actaaaaagtctcct>act	p.KKSP4del	CTPS2_uc004cxk.3_Intron|CTPS2_uc004cxl.3_Intron|CTPS2_uc004cxm.3_Intron	NM_004057	NP_004048	P29377	S100G_HUMAN	Homo sapiens S100 calcium binding protein G (S100G), mRNA.	4							calcium ion binding|vitamin D binding	p.K5M(1)		large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					AGAATGAGTACTAAAAAGTCTCCTGAGGAACT	0.382													---	39	---	---	10	---					
