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
SCNN1G	6340	broad.mit.edu	37	16	23203735	23203735	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23203735G>A	uc002dlm.1	+	3	820	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	227					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCCATTCAGGAGTGGTATA	0.502000														140			11		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5989583	5989583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5989583G>A	uc010qzu.2	-	0	142	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	48						integral to membrane|plasma membrane	olfactory receptor activity										GTGATCAGAAGGGTGGCATTG	0.577000														47			4		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46755771	46755772	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46755771_46755772CC>TT	uc003cqe.1	-	3	1172_1173	c.690_691GG>AA	c.(688-693)acggac>acAAac	p.D231N	PRSS50_uc021wxe.1_Missense_Mutation_p.D231N|PRSS50_uc003cqf.2_Missense_Mutation_p.D145N	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	231	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.T230M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AACACATAGTCCGTGCCAGGCA	0.604000														112			5		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70599145	70599145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70599145C>T	uc002ezf.3	+	18	2852	c.2641C>T	c.(2641-2643)Cag>Tag	p.Q881*		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	881					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGACCTTGTCCAGCTGGAACA	0.537000														55			9		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48694934	48694934	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48694934T>C	uc002irk.1	+	29	5527	c.5155_splice	c.e29+2	p.V1719_splice	CACNA1G_uc002irj.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irl.1_Splice_Site_p.V1696_splice|CACNA1G_uc002irm.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irn.1_Splice_Site_p.V1678_splice|CACNA1G_uc002iro.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irp.1_Splice_Site_p.V1719_splice|CACNA1G_uc002irq.1_Splice_Site_p.V1696_splice|CACNA1G_uc002irr.1_Splice_Site_p.V1719_splice|CACNA1G_uc002irs.1_Splice_Site_p.V1708_splice|CACNA1G_uc002irt.1_Splice_Site_p.V1701_splice|CACNA1G_uc002iru.1_Splice_Site_p.V1685_splice|CACNA1G_uc002irv.1_Splice_Site_p.V1708_splice|CACNA1G_uc002irw.1_Splice_Site_p.V1696_splice|CACNA1G_uc002irx.1_Splice_Site_p.V1632_splice|CACNA1G_uc002iry.1_Splice_Site_p.V1621_splice|CACNA1G_uc002isg.1_Splice_Site_p.V1580_splice|CACNA1G_uc002ish.1_Splice_Site_p.V1587_splice|CACNA1G_uc002isi.1_Splice_Site_p.V1575_splice|CACNA1G_uc002irz.1_Splice_Site_p.V1632_splice|CACNA1G_uc002isa.1_Splice_Site_p.V1598_splice|CACNA1G_uc002isd.1_Splice_Site_p.V1614_splice|CACNA1G_uc002isb.1_Splice_Site_p.V1639_splice|CACNA1G_uc002isc.1_Splice_Site_p.V1621_splice|CACNA1G_uc002ise.1_Splice_Site_p.V1587_splice|CACNA1G_uc002isf.1_Splice_Site_p.V1614_splice	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1719					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGCCCGAGGTTGGTGCCCAG	0.642000														59			7		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58471452	58471452	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:58471452G>A	uc002aez.2	+	4	978	c.621G>A	c.(619-621)ctG>ctA	p.L207L	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Silent_p.L142L	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	207					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CTTCCTCCCTGGGACTGAACA	0.532000														27			5		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430789	37430789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37430789G>A	uc021ppc.1	+	6	895	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E266K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	322						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						AAGCTTGGTGGAAAAAACACC	0.478000														36			3		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951849	30951849	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30951849G>A	uc003aig.1	-	3	503	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GAL3ST1_uc003aih.1_Silent_p.F121F|GAL3ST1_uc003aii.1_Silent_p.F121F|GAL3ST1_uc010gvz.1_Silent_p.F121F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	121					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGCTGCGGGCGAAGAAGGTCG	0.627000														173			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38976650	38976650	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38976650G>A	uc021yzh.1	+	88	13384	c.13275G>A	c.(13273-13275)gaG>gaA	p.E4425E	DNAH8_uc003ooe.2_Silent_p.E4208E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCCAAAGAGAGTGGAGGTG	0.418000														163			14		0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797021	33797021	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:33797021A>C	uc009vuh.1	-	11	2423	c.1934T>G	c.(1933-1935)cTc>cGc	p.L645R	PHC2_uc001bxg.1_Missense_Mutation_p.L644R|PHC2_uc001bxh.1_Missense_Mutation_p.L616R|PHC2_uc001bxe.1_Missense_Mutation_p.L109R|PHC2_uc001bxf.1_Missense_Mutation_p.L59R	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	644					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGCCACAGAGCTCACACTT	0.527000														162			18		0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33271739	33271739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:33271739G>A	uc003odx.2	-	6	1674	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	TAPBP_uc010jut.2_Missense_Mutation_p.S356L|TAPBP_uc003odz.3_Missense_Mutation_p.S443L|TAPBP_uc003ody.3_3'UTR	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	443					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TACCTTCTTTGAATCCTTGCA	0.532000														110			16		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44483156	44483156	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:44483156G>A	uc002zcu.2	-	9	1106	c.861C>T	c.(859-861)ctC>ctT	p.L287L	CBS_uc002zcs.1_Silent_p.L182L|CBS_uc002zct.2_Silent_p.L287L|CBS_uc002zcw.3_Silent_p.L287L|CBS_uc002zcv.2_Silent_p.L287L	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	287					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCGGCTCTGCGAGGATGGACC	0.612000														139			17		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6753577	6753577	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6753577C>G	uc001qpu.1	-	4	718	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	ACRBP_uc010sfg.1_Missense_Mutation_p.E191Q	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	224						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						tcctgttcctcttcttgctct	0.567000														33			6		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614472	247614472	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247614472G>A	uc010pyx.2	-	0	813	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCTCTTGGGAGTAGCTGG	0.493000														154			14		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38644975	38644975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38644975G>A	uc010cxb.3	-	2	850	c.686C>T	c.(685-687)cCc>cTc	p.P229L		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	229	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.S228F(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TGAGATGCTGGGGGAATTTGG	0.652000														23			4		0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547641	18547641	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18547641C>T	uc002njd.2	-	4	680	c.462G>A	c.(460-462)gcG>gcA	p.A154A	ISYNA1_uc002nja.2_Silent_p.A26A|ISYNA1_uc002njb.2_Silent_p.A4A|ISYNA1_uc002njc.2_Silent_p.A4A|ISYNA1_uc010xqh.2_Intron|ISYNA1_uc002nje.2_Silent_p.A100A	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	154					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCAGCACCTTCGCGCGCCGCA	0.697000														20			4		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45554049	45554049	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:45554049C>T	uc001uzp.2	-	3	675	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	211					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ACTGGACAATCTTCTCGTGTG	0.284000														47			5		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370683	48370683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:48370683G>A	uc001jex.3	+	1	313	c.151G>A	c.(151-153)Gag>Aag	p.E51K	ZNF488_uc021ppx.1_Missense_Mutation_p.E51K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGTGCTGCTCGAGAAGACGAA	0.677000														104			9		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752041	51752041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:51752041G>A	uc001ryk.2	-	7	1598	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.S458F|GALNT6_uc001ryj.1_Missense_Mutation_p.S23F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	458					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTCACCGAAGGATTTCTGTCA	0.473000														116			16		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520098	113520098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:113520098G>A	uc010ljy.1	-	3	1080	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	350					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGCTTTATTTGGAAAATTGAC	0.373000														113			9		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33629411	33629411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:33629411C>T	uc001uus.3	+	2	1566	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	KL_uc001uur.1_Missense_Mutation_p.P213S	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGGACATTTCCCTGTGACTT	0.438000														72			6		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63206669	63206669	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:63206669G>A	uc002jfe.3	+	16	1556	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	RGS9_uc021ubw.1_Silent_p.Q448Q|RGS9_uc010dem.3_Silent_p.Q448Q|RGS9_uc002jfd.3_Silent_p.Q448Q|RGS9_uc002jfg.3_Silent_p.Q222Q	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	451					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCCTGAGACAGCTGGAAGAGG	0.577000														99			10		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293975	45293975	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:45293975A>G	uc010olf.2	-	12	1714	c.1702T>C	c.(1702-1704)Ttc>Ctc	p.F568L	PTCH2_uc021omv.1_Missense_Mutation_p.F568L|PTCH2_uc010olg.2_Missense_Mutation_p.F266L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	568					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TACCTGGAGAAGCAGCAGAGC	0.627000									Basal Cell Nevus syndrome					46			3		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832797	150832797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150832797G>A	uc004fev.4	+	10	1380	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	350						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGACCTGGGGGCTGCTGG	0.567000														9			3		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154250708	154250708	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154250708G>A	uc004fmt.3	-	0	291	c.120C>T	c.(118-120)ctC>ctT	p.L40L	F8_uc011mzx.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	40	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCAGCTCACCGAGATCACTTT	0.522000														159			39		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826179	23826179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:23826179C>T	uc003sws.4	+	18	2394	c.2327C>T	c.(2326-2328)aCc>aTc	p.T776I	STK31_uc003swt.4_Missense_Mutation_p.T753I|STK31_uc011jze.2_Missense_Mutation_p.T776I|STK31_uc010kuq.3_Missense_Mutation_p.T753I|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	776	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.A775V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAGCAGCCACCTACCATAGA	0.423000														55			5		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279836	152279836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152279836C>T	uc001ezu.1	-	2	7562	c.7526G>A	c.(7525-7527)gGa>gAa	p.G2509E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2509	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGAGTGCCC	0.557000									Ichthyosis					531			49		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582291	247582291	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247582291G>A	uc001icr.3	+	2	333	c.195G>A	c.(193-195)gaG>gaA	p.E65E	NLRP3_uc001ics.3_Silent_p.E65E|NLRP3_uc001icu.3_Silent_p.E65E|NLRP3_uc001icw.3_Silent_p.E65E|NLRP3_uc001icv.3_Silent_p.E65E|NLRP3_uc010pyw.2_Silent_p.E63E|NLRP3_uc001ict.1_Silent_p.E63E	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	65	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGGGGAGGAGAAGGCGTGGG	0.562000														50			5		0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256856	69256856	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:69256856G>A	uc021rve.1	-	2	712	c.618C>T	c.(616-618)ttC>ttT	p.F206F	ZFP36L1_uc001xki.2_Silent_p.F137F|ZFP36L1_uc001xkh.2_Silent_p.F137F	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	137					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCCGTGTGCGAACTGGCACT	0.647000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		217			24		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211542647	211542647	+	Missense_Mutation	SNP	C	T	T	rs138125466		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211542647C>T	uc010fur.3	+	38	4541	c.4459C>T	c.(4459-4461)Cgc>Tgc	p.R1487C	CPS1_uc002vee.4_Missense_Mutation_p.R1481C|CPS1_uc010fus.3_Missense_Mutation_p.R1030C	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1481					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAGAAATCTCGCAAGGTGGA	0.423000														256			12		0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965092	7965092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7965092G>A	uc002mir.3	+	2	1786	c.1685G>A	c.(1684-1686)aGg>aAg	p.R562K		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	562						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CACCTGCAGAGGCTCAGCCTG	0.662000														63			4		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54403597	54403597	+	Silent	SNP	C	T	T	rs146308617		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:54403597C>T	uc002iun.1	+	2	113	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	26										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAAGGAGATTCGCTTGCTTTG	0.413000														68			4		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247224	142247224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142247224C>T	uc003vyd.4	-	1	257	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TTGGGCAGCCCTGAGTCATCT	0.557000														62			6		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209758	3209758	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3209758C>T	uc010zqe.2	-	15	2255	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	SLC4A11_uc002wig.3_Silent_p.V683V|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.V667V	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	683	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCGGTGCATTCACCAAGGCGG	0.667000														27			3		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38752383	38752383	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38752383G>A	uc003ciq.3	-	22	4095	c.4095C>T	c.(4093-4095)acC>acT	p.T1365T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1365					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)	AGCCTTTAAAGGTTGCCTGGA	0.552000														26			6		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757052	116757052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:116757052G>A	uc011ebg.2	+	5	1577	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	DSE_uc003pws.3_Missense_Mutation_p.G474E|DSE_uc003pwt.3_Missense_Mutation_p.G474E|DSE_uc003pwu.3_Missense_Mutation_p.G141E	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	474					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GCTCTGTACGGGCCAAAGTAC	0.448000														48			7		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64684437	64684437	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64684437C>T	uc001obx.3	-	1	286	c.171_splice	c.e1+1	p.W57_splice	ATG2A_uc010rnt.1_Splice_Site_p.W57_splice	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	57							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTCCTCACCCAGATTTCCA	0.647000														37			4		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366416	248366416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248366416G>A	uc010pzg.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16E(2)|p.L15L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCCTCCTGGGAATCTTCAAT	0.463000														213			8		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33451266	33451266	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:33451266C>T	uc003xjp.3	-	3	555	c.222_splice	c.e3-1	p.Q74_splice	DUSP26_uc003xjq.3_Splice_Site_p.Q74_splice	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	74	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGCCATGTCCCTGCATTGAGT	0.567000														57			3		0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3529541	3529541	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3529541G>T	uc002cvh.4	+	3	427	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	NAA60_uc010uxb.1_Missense_Mutation_p.G68C|NAA60_uc010btk.1_5'UTR|NAA60_uc010btl.3_5'UTR|NAA60_uc021tcf.1_Missense_Mutation_p.G61C|NAA60_uc010btm.3_Missense_Mutation_p.G61C|NAA60_uc010uxd.2_Non-coding_Transcript|NAA60_uc010uxe.2_Non-coding_Transcript|NAA60_uc002cvg.2_Missense_Mutation_p.G61C	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	61	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						AACCTACAGAGGTGCCATTGT	0.443000														56			8		1.33987e-11	1.35571e-11	1	1	0
HIF3A	64344	broad.mit.edu	37	19	46815879	46815879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46815879G>A	uc002peh.3	+	7	1025	c.994G>A	c.(994-996)Gag>Aag	p.E332K	HIF3A_uc002pef.2_3'UTR|HIF3A_uc002peg.4_Missense_Mutation_p.E332K|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.E276K|HIF3A_uc002pej.2_Missense_Mutation_p.E263K|HIF3A_uc010xxy.2_Missense_Mutation_p.E263K|HIF3A_uc002pel.3_Missense_Mutation_p.E330K|HIF3A_uc010xxz.2_Missense_Mutation_p.E281K	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCCAGTCGGAGAGTATCGT	0.607000														128			9		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079879	31079879	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31079879C>A	uc003nsk.1	-	1	257	c.257G>T	c.(256-258)gGc>gTc	p.G86V	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	86										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						AGGTGGGAAGCCATCTGATGC	0.602000														58			7		7.48243e-07	7.54568e-07	1	1	0
SCRT2	85508	broad.mit.edu	37	20	644918	644918	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:644918G>A	uc002wec.3	-	1	899	c.321C>T	c.(319-321)tcC>tcT	p.S107S	SRXN1_uc002web.3_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	Homo sapiens scratch homolog 2, zinc finger protein (Drosophila) (SCRT2), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						AGGCGTCCATGGAGTAGCTGT	0.781000														26			3		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016436	27016436	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:27016436G>A	uc001mrd.3	+	0	809	c.363G>A	c.(361-363)cgG>cgA	p.R121R		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	121						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACCTGCGGCGGGAGTCCCACC	0.617000														96			8		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55855409	55855409	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:55855409C>T	uc002eim.3	-	4	669	c.561G>A	c.(559-561)ggG>ggA	p.G187G	CES1_uc002eil.3_Silent_p.G188G|CES1_uc002ein.3_Silent_p.G187G	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	187					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GACCCCAGTTCCCCCGGCTGT	0.597000														67			6		0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32124957	32124957	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:32124957C>T	uc010reb.2	+	4	1085	c.819C>T	c.(817-819)atC>atT	p.I273I	RCN1_uc021qfp.1_Silent_p.I107I|RCN1_uc001mtk.3_Silent_p.I107I	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	273	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					GCCACTGGATCCTCCCTCAAG	0.458000														87			6		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513946	1513946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:1513946G>A	uc003wpl.3	+	2	1185	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E	DLGAP2_uc003wpm.3_Missense_Mutation_p.G363E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	442					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AAAGCCATGGGGGACGAGGAG	0.567000														31			3		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53008368	53008368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53008368C>T	uc001sas.3	-	3	849	c.814G>A	c.(814-816)Gag>Aag	p.E272K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	272	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E272K(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTACCCCCTCGTACAGACAC	0.512000														65			6		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:100382357G>A	uc003pqh.1	-	4	939	c.624C>T	c.(622-624)ttC>ttT	p.F208F	MCHR2_uc003pqi.1_Silent_p.F208F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343000														77			10		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576111	11576111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11576111G>A	uc001ash.4	+	5	1780	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTCHD2_uc001asi.1_Missense_Mutation_p.E548K	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	548	SSD.				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)		CACCCACCTGGAAGACCCACA	0.592000														82			11		0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113909298	113909298	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:113909298C>T	uc021rmv.1	+	17	1901	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	CUL4A_uc021rmu.1_Silent_p.S530S|CUL4A_uc010agu.3_Silent_p.S491S|CUL4A_uc010tjz.2_Silent_p.S309S	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	630					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)			CGCTGCAGTCCCTGGCCTGTG	0.458000														36			3		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85613350	85613350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:85613350G>A	uc004amo.1	-	12	1996	c.1735C>T	c.(1735-1737)Caa>Taa	p.Q579*		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	579					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTTCATTTGGAAATCAACT	0.443000														154			9		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124666	47124666	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47124666C>T	uc002pex.3	-	2	1145	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	344					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCACGCAGCTCCCCTCCTTTC	0.692000														19			3		0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141458692	141458692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:141458692G>A	uc003iik.3	+	4	528	c.396G>A	c.(394-396)atG>atA	p.M132I		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA.	132	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					AGCTACTCATGAAGGTAAATT	0.363000														64			5		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532375	92532375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:92532375G>A	uc001pdj.4	+	8	6213	c.6196G>A	c.(6196-6198)Gcc>Acc	p.A2066T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2066	Cadherin 18.				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)				TCTGCGTGTGGCCAGAGTGGT	0.512000										TCGA Ovarian(4;0.039)				42			7		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053707	120053707	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:120053707G>A	uc004bjt.2	-	1	629	c.528C>T	c.(526-528)tcC>tcT	p.S176S		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	176						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCTGCTCATGGAGACGTGGA	0.592000														94			16		0	0	1	0	0
SMCR7L	54471	broad.mit.edu	37	22	39909778	39909778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39909778C>T	uc003axw.3	+	5	1339	c.842C>T	c.(841-843)tCc>tTc	p.S281F	SMCR7L_uc010gxz.1_Missense_Mutation_p.S103F|SMCR7L_uc003axx.3_Missense_Mutation_p.S281F|SMCR7L_uc003axy.3_Missense_Mutation_p.S103F	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	281						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GCCATAGGGTCCCTCTTGGAC	0.557000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			20		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589736	11589736	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11589736T>G	uc001ash.4	+	13	3060	c.2922T>G	c.(2920-2922)agT>agG	p.S974R		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	974					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)		TCGTGCCTAGTGAGAAAGGTA	0.627000														47			7		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749584	51749584	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51749584A>G	uc010hlv.3	+	3	2034	c.1795A>G	c.(1795-1797)Aag>Gag	p.K599E	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	599					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACCAGTGGTCAAGGCCTCAGG	0.602000														131			14		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440373	103440374	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:103440373_103440374CC>TT	uc001ymi.1	-	11	1852_1853	c.1620_1621GG>AA	c.(1618-1623)caggag>caAAag	p.E541K		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	541					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTCCTTCTCCTGCCGGACCA	0.599000														102			6		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769361	247769361	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247769361C>T	uc010pyz.2	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157L(2)		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)			GTTCCCTAATCCATGCAACTT	0.488000														69			5		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34010029	34010029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34010029C>T	uc011kap.2	+	5	865	c.491C>T	c.(490-492)cCa>cTa	p.P164L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	164	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCCACATGTCCAGGTAACGTT	0.488000														83			7		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669819	78669819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:78669819C>T	uc001jxn.3	-	24	3229	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	KCNMA1_uc021ptu.1_Missense_Mutation_p.D910N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D964N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D636N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D809N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D643N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D1001N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D960N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D990N	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1018					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATCATCATCGTCTTGGTCC	0.478000														44			5		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103308007	103308007	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:103308007G>A	uc003ykr.2	-	28	4124	c.3669C>T	c.(3667-3669)ctC>ctT	p.L1223L	UBR5_uc003yks.2_Silent_p.L1223L	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1223					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGTCCGTTTGAGTCTATAGA	0.338000														31			4		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99030974	99030974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99030974C>T	uc011kiw.2	-	3	728	c.668G>A	c.(667-669)aGc>aAc	p.S223N	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.S174N	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	223																	CGTGTAGTTGCTCTCCATGGG	0.622000														262			27		0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44055282	44055282	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:44055282C>T	uc001zsu.3	+	4	628	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PDIA3_uc010bdp.3_Silent_p.F140F|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	160					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TAGGTTTTTTCGATGATTCAT	0.393000														87			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228535	140228535	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140228535T>A	uc003lhu.2	+	0	1179	c.455T>A	c.(454-456)tTt>tAt	p.F152Y	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.F152Y	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	167	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTCGGTTTCCACTAGAG	0.552000														67			7		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294741	77294741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77294741G>A	uc001xsx.2	+	1	310	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_5'Flank	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	66										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAGAATTCGGAAACAGACCT	0.522000														113			14		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763659	77763659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77763659C>T	uc003yau.2	+	9	4889	c.4502C>T	c.(4501-4503)cCt>cTt	p.P1501L	ZFHX4_uc003yaw.1_Missense_Mutation_p.P1456L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1456						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)			AAAGCAAGTCCTGTAGGAAGT	0.478000										HNSCC(33;0.089)				37			3		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646784	127646784	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127646784G>A	uc010hsr.3	+	1	1251	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*	KBTBD12_uc003ejy.4_Nonsense_Mutation_p.W23*|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Nonsense_Mutation_p.W416*	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	416										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGGACAATTGGAAAAGGGTGT	0.383000														50			5		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027037	55027037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:55027037C>T	uc002xxp.2	+	5	1030	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CASS4_uc002xxq.4_Missense_Mutation_p.P269S|CASS4_uc010zze.1_Missense_Mutation_p.P215S|CASS4_uc002xxr.2_Missense_Mutation_p.P269S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	269					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGAATCAAGGCCCCACGCTCT	0.512000														78			4		0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18532154	18532154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:18532154G>A	uc002dfe.3	-	18	2278	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	NOMO2_uc002dff.3_Missense_Mutation_p.P736S|NOMO2_uc010bvx.3_Missense_Mutation_p.P569S|Mir_548_uc021teb.1_5'Flank	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	736						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.K735N(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TGCACGGGAGGCTTGGTCATT	0.562000														244			22		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198229	170198229	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:170198229C>T	uc003fgz.2	-	6	2158	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	614						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTGCAGGATCACAAACACCA	0.542000														88			6		0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2944067	2944067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:2944067C>T	uc001qlc.3	-	0	155	c.83G>A	c.(82-84)gGa>gAa	p.G28E	NRIP2_uc010sed.1_Missense_Mutation_p.G28E|LOC100507424_uc021qtc.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	28					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCTGCTTCTTCCTGCCTGTCT	0.607000														57			6		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48333184	48333184	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:48333184G>A	uc010dpa.3	-	2	327	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	MRO_uc010xdn.2_Silent_p.L46L|MRO_uc002lew.4_Silent_p.L46L|MRO_uc010dpb.3_Silent_p.L60L|MRO_uc010dpc.3_Silent_p.L46L|MRO_uc002lex.4_Silent_p.L46L	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	46						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)		ACATTCTTCAGAGGCTCCCGC	0.478000														103			12		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349697	150349697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150349697C>T	uc010ntg.2	+	1	1780	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	548	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCGAGATCCCTGCCATTGC	0.647000														49			12		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235881	23235881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23235881G>A	uc001wgn.2	+	0	151	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	OXA1L_uc010tnc.2_Missense_Mutation_p.G51S|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TTACTGCGCAGGCGCAAAAGC	0.577000														150			15		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312205	113312205	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:113312205G>A	uc010mtz.3	-	1	1048	c.711C>T	c.(709-711)acC>acT	p.T237T	SVEP1_uc010mua.1_Silent_p.T237T|SVEP1_uc004beu.2_Silent_p.T237T|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	237	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTCCTTTGGGGTGGAAGCCA	0.483000														21			3		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222777	27222777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:27222777C>T	uc003nja.3	+	10	1358	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.P191L|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	448					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GACACAGACCCCTGGCATGTG	0.552000														226			18		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513754	99513754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:99513754G>A	uc003dti.1	+	2	1140	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G337R|COL8A1_uc003dth.1_Missense_Mutation_p.G337R	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	337	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGGGAGCAAGGACTGCCAGG	0.637000														39			9		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797758	71797758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:71797758G>A	uc010fen.3	+	28	3256	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K	DYSF_uc010fei.3_Missense_Mutation_p.E1038K|DYSF_uc010feh.3_Missense_Mutation_p.E1007K|DYSF_uc002sig.4_Missense_Mutation_p.E1007K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E1052K|DYSF_uc010fee.3_Missense_Mutation_p.E1021K|DYSF_uc010fef.3_Missense_Mutation_p.E1038K|DYSF_uc002sie.3_Missense_Mutation_p.E1021K|DYSF_uc010feo.3_Missense_Mutation_p.E1053K|DYSF_uc010fej.3_Missense_Mutation_p.E1008K|DYSF_uc010fel.3_Missense_Mutation_p.E1008K|DYSF_uc010fem.3_Missense_Mutation_p.E1022K|DYSF_uc002sif.3_Missense_Mutation_p.E1022K|DYSF_uc010fek.3_Missense_Mutation_p.E1039K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1021	Arg-rich.					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						CATCCCCCCGGAGCGGAAGCC	0.617000														27			4		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30186482	30186482	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30186482C>G	uc003agr.3	-	18	2222	c.2078G>C	c.(2077-2079)cGc>cCc	p.R693P	ASCC2_uc011akr.2_Missense_Mutation_p.R617P|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.R693C(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AAAGGCCATGCGCCTGGCTTC	0.602000														61			7		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31092307	31092307	+	Silent	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31092307A>C	uc002eap.3	+	1	4951	c.4662A>C	c.(4660-4662)acA>acC	p.T1554T	ZNF646_uc021tgu.1_Silent_p.T1554T	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAACAAGACAGACCGACACT	0.552000														96			9		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274695	160274695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:160274695C>T	uc003iqg.4	+	21	3975	c.3665C>T	c.(3664-3666)tCt>tTt	p.S1222F		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1222					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACAGTAATTTCTTCTCCAAGC	0.488000														92			6		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340247	55340247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55340247C>T	uc010rih.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTAATATTCTCCTATGTCATC	0.418000														32			3		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578956	82578956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82578956C>T	uc003uhx.2	-	5	11237	c.10948G>A	c.(10948-10950)Gat>Aat	p.D3650N	PCLO_uc003uhv.2_Missense_Mutation_p.D3650N|PCLO_uc010lec.3_Missense_Mutation_p.D615N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3581					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						GGACTTATATCATCAGGGAGG	0.468000														181			7		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517365	140517365	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140517365G>A	uc003liq.3	+	0	2566	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAATAGGGAAAACTGCTG	0.468000														144			5		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85774624	85774624	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:85774624G>A	uc003yct.4	+	5	680	c.546G>A	c.(544-546)ggG>ggA	p.G182G	RALYL_uc003ycq.4_Silent_p.G169G|RALYL_uc003ycr.4_Silent_p.G169G|RALYL_uc003ycs.4_Silent_p.G169G|RALYL_uc010lzy.3_Silent_p.G158G|RALYL_uc003ycu.4_Silent_p.G96G	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	169							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTCGCAGGGGGAAAGGAGTCT	0.473000														35			3		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57094720	57094720	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:57094720G>A	uc002iwy.4	-	19	2767	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	TRIM37_uc002iwz.4_Nonsense_Mutation_p.R775*|TRIM37_uc002ixa.4_Nonsense_Mutation_p.R653*|TRIM37_uc010woc.2_Nonsense_Mutation_p.R741*	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	775						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTGCTCTTCGAAGTGATAGA	0.448000									Mulibrey Nanism					122			11		0	0	1	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44171379	44171379	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44171379G>A	uc010zxc.2	-	2	420	c.351C>T	c.(349-351)ttC>ttT	p.F117F	SPINLW1-WFDC6_uc002xou.3_Silent_p.F117F|SPINLW1-WFDC6_uc002xov.2_3'UTR	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	117						extracellular region	serine-type endopeptidase inhibitor activity										CTTTGGATTGGAAGTTGTTAT	0.498000														98			7		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334967	102334967	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102334967C>G	uc004eju.3	-	11	1097	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	NXF3_uc010noi.1_Missense_Mutation_p.K192N	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	342						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGACCAGATTCTTCAACATCT	0.502000														124			38		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10248571	10248571	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10248571G>A	uc002mng.3	-	34	4362	c.4182C>T	c.(4180-4182)tcC>tcT	p.S1394S	DNMT1_uc002mnf.3_Silent_p.S318S|DNMT1_uc010xlc.2_Silent_p.S1410S|DNMT1_uc002mnh.3_Silent_p.S1289S|DNMT1_uc010xld.2_Silent_p.S1394S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1394	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCTGGAACCAGGACTGAGGCT	0.632000														24			3		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345429	28345429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28345429C>T	uc001iua.1	-	17	1935	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G511S|MPP7_uc009xla.2_Missense_Mutation_p.G511S|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	511	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTGCAGCACCTTGGTCATCT	0.448000														135			17		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171076846	171076846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171076846G>A	uc001ghi.3	+	3	463	c.352G>A	c.(352-354)Gat>Aat	p.D118N	FMO3_uc001ghh.3_Missense_Mutation_p.D118N|FMO3_uc010pmb.2_Missense_Mutation_p.D98N|FMO3_uc010pmc.2_Missense_Mutation_p.D55N	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	118					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAACATCCTGATTTTGCAAC	0.383000														35			3		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95500733	95500733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:95500733C>T	uc001tdp.4	-	12	3638	c.3414G>A	c.(3412-3414)atG>atA	p.M1138I	FGD6_uc009zsx.3_Missense_Mutation_p.M271I|FGD6_uc001tdq.1_Missense_Mutation_p.M174I	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1138	PH 1.				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						CACACACCTTCATTCCAGCCA	0.408000														187			21		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80730323	80730323	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:80730323T>C	uc001szd.3	+	38	4710	c.4704T>C	c.(4702-4704)tgT>tgC	p.C1568C		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCGAAAAATGTTCCATGAATC	0.343000														43			3		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106518648	106518648	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106518648C>T	uc021ser.1	-	2195		c.39305G>A								Parts of antibodies, mostly variable regions.																		CTCAGGGACCCCCCAGGCTGG	0.592000														161			34		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474710	108474710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108474710G>A	uc003dxh.2	-	2	349	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	84					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AACATCCCACGAACCACAGCC	0.577000														135			11		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20829176	20829176	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:20829176G>A	uc002npb.1	-	1	189	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Silent_p.F13F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCTCCAGAGAGAATTCTATGG	0.423000														215			16		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151736	3151736	+	Missense_Mutation	SNP	G	A	A	rs139079286		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:3151736G>A	uc002lxf.2	+	3	775	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	173					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.E173K(4)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CATCACCGAGGAGGGCTACGT	0.627000														211			10		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745843	77745843	+	Silent	SNP	G	A	A	rs34870411		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:77745843G>A	uc002snr.3	-	2	1567	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	LRRTM4_uc002snq.3_Silent_p.I384I|LRRTM4_uc002sns.2_Silent_p.I384I|LRRTM4_uc002snt.2_Silent_p.I385I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	384						integral to membrane		p.I384I(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAGGTCTAGGGATAATCAGAG	0.488000														18			4		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913419	6913419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6913419G>A	uc010rau.2	-	0	313	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAAAAATGAGGAAAAAGAGA	0.473000														58			4		0	0	1	0	0
TMED9	54732	broad.mit.edu	37	5	177020755	177020755	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:177020755C>T	uc003mhx.3	+	2	393	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 9 (TMED9), mRNA.	130	GOLD.				transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGTTCTCCCTCTTTGCTG	0.567000														202			14		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449716	138449716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:138449716C>T	uc003ihe.4	-	2	3043	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	PCDH18_uc003ihf.4_Missense_Mutation_p.D878N|PCDH18_uc011cgz.2_Missense_Mutation_p.D97N|PCDH18_uc003ihg.4_Missense_Mutation_p.D665N|PCDH18_uc011cha.2_Missense_Mutation_p.D66N	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	886					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGCCCCAAATCATAATCACTG	0.448000														261			15		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757789	116757789	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:116757789C>T	uc011ebg.2	+	5	2314	c.2215C>T	c.(2215-2217)Ctg>Ttg	p.L739L	DSE_uc003pws.3_Silent_p.L720L|DSE_uc003pwt.3_Silent_p.L720L|DSE_uc003pwu.3_Silent_p.L387L	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	720					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCACAAAATTCTGTTTGACCG	0.488000														133			12		0	0	1	0	0
PEX11G	92960	broad.mit.edu	37	19	7546945	7546945	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7546945G>A	uc002mgk.1	-	2	411	c.402C>T	c.(400-402)gcC>gcT	p.A134A	PEX11G_uc002mgl.1_Silent_p.A64A	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.	134						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						GCAGAGAGAGGGCCCACAGGG	0.657000														19			3		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24255195	24255195	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24255195G>A	uc003xdz.2	+	7	848	c.628_splice	c.e7-1	p.K210_splice	ADAMDEC1_uc010lub.2_Splice_Site_p.K131_splice|ADAMDEC1_uc011lab.1_Splice_Site_p.K131_splice	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	210					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCTTTGTAAAGAAAGAAGACT	0.348000														53			4		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7707604	7707604	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7707604G>A	uc002giu.1	+	57	9017	c.9003G>A	c.(9001-9003)ctG>ctA	p.L3001L	DNAH2_uc010cnm.1_5'UTR	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3001	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGAGCTGCTGGCCCAAGCCA	0.557000														55			4		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813930	123813930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:123813930C>T	uc010sab.2	-	0	616	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCCAGTAACACCAACGTAGAG	0.532000														45			5		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366817	40366817	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:40366817C>T	uc002rrx.3	-	9	2294	c.2270_splice	c.e9-1	p.G757_splice	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.G752_splice|SLC8A1_uc002rsb.2_Splice_Site_p.G749_splice|SLC8A1_uc002rrz.3_Splice_Site_p.G744_splice|SLC8A1_uc002rsa.3_Splice_Site_p.G721_splice|SLC8A1_uc002rsd.4_Splice_Site_p.G721_splice	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	757					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCTTCCCCTAGAGAGAAT	0.498000														92			10		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160523210	160523210	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160523210G>A	uc001fwh.4	-	3	797	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	CD84_uc001fwf.4_Silent_p.L240L|CD84_uc009wtn.3_Silent_p.L240L|CD84_uc001fwi.4_Silent_p.L126L|CD84_uc001fwg.4_Silent_p.L240L|CD84_uc001fwj.3_Silent_p.L240L	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	240					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGAAGACAGAATGAGAACA	0.468000														47			3		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7680636	7680636	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:7680636G>A	uc002cys.2	+	10	1696	c.708G>A	c.(706-708)gaG>gaA	p.E236E	RBFOX1_uc010buf.1_Silent_p.E236E|RBFOX1_uc002cyr.1_Silent_p.E235E|RBFOX1_uc002cyt.2_Intron|RBFOX1_uc010uxz.1_Silent_p.E279E|RBFOX1_uc010uya.1_Silent_p.E193E|RBFOX1_uc002cyv.1_Silent_p.E236E|RBFOX1_uc010uyb.1_Silent_p.E236E|RBFOX1_uc002cyw.2_Silent_p.E256E|RBFOX1_uc002cyy.2_Silent_p.E256E|RBFOX1_uc002cyx.2_Silent_p.E256E|RBFOX1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	236					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						CCAACCAGGAGGGATCTTCCA	0.488000														69			4		0	0	1	0	0
ABR	29	broad.mit.edu	37	17	915214	915214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:915214G>A	uc002fsd.3	-	18	2083	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	ABR_uc002fse.3_Missense_Mutation_p.S612F|ABR_uc010vqf.2_Missense_Mutation_p.S109F|ABR_uc010vqg.2_Missense_Mutation_p.S440F|ABR_uc002fsg.3_Missense_Mutation_p.S621F|ABR_uc002fsh.1_Intron|ABR_uc002fsf.3_Missense_Mutation_p.S195F	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	658	Rho-GAP.			RSKV -> VQGA (in Ref. 2; AAC37519).	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	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGCACCTTGGAGCGCTCCCG	0.647000														142			12		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416853	110416853	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110416853C>T	uc003yne.3	+	14	1548	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	482					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTACCAGTATCGAAATGTTTA	0.363000										HNSCC(38;0.096)				35			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202854	140202854	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140202854G>A	uc003lhl.2	+	0	1494	c.1494G>A	c.(1492-1494)gtG>gtA	p.V498V	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_Silent_p.V498V|PCDHAC2_uc003lhj.1_Silent_p.V498V	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	513	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCGGGTGGGCGAGCGCC	0.672000														105			8		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52193349	52193349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:52193349C>T	uc002xwq.4	-	2	2296	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	ZNF217_uc010gij.1_Missense_Mutation_p.D644N	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	652					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P651S(2)|p.P651P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTACTGCCATCCGGAGGAGGA	0.488000														182			19		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723871	99723871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:99723871C>T	uc001yga.3	-	1	631	c.364G>A	c.(364-366)Gac>Aac	p.D122N	BCL11B_uc001ygb.3_Missense_Mutation_p.D122N	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	122						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCATCTTCGTCGGGGGTGACT	0.602000			T	TLX3	T-ALL									130			13		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612411	20612411	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20612411C>T	uc010tla.2	+	0	517	c.517C>T	c.(517-519)Cag>Tag	p.Q173*		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCCAAACCAGCTCGATAA	0.502000														71			9		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828252	150828252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150828252C>T	uc004fev.4	+	9	1117	c.785C>T	c.(784-786)tCt>tTt	p.S262F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	262						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGATTCTGATTCAACT	0.373000														45			7		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279599	50279599	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:50279599A>C	uc001zxu.3	-	9	879	c.737T>G	c.(736-738)gTt>gGt	p.V246G	ATP8B4_uc010ber.3_Missense_Mutation_p.V119G|ATP8B4_uc010ufd.2_Missense_Mutation_p.V119G|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	246					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.M245I(1)		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)		TGCAAAAATAACCATTCCAAA	0.468000														82			7		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173165	126173165	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126173165G>A	uc003vlr.2	-	7	2582	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I757I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I757V(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCATCAAGAGGATACTGTATC	0.443000										HNSCC(24;0.065)				45			3		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16810706	16810706	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:16810706C>T	uc010rcu.1	-	22	3312	c.3297G>A	c.(3295-3297)ggG>ggA	p.G1099G	PLEKHA7_uc001mmo.3_Silent_p.G1098G|PLEKHA7_uc001mmm.3_Silent_p.G201G|PLEKHA7_uc010rcv.2_Silent_p.G673G|PLEKHA7_uc001mmn.3_Silent_p.G807G	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	1098					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCGTCCTCTCCCCTTGGCCCA	0.647000														58			8		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101190158	101190158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101190158C>T	uc003yjh.2	+	3	501	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	SPAG1_uc003yjg.1_Missense_Mutation_p.H139Y|SPAG1_uc003yji.2_Missense_Mutation_p.H139Y	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	139					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CAGCTGTCTTCATGTAGGCAA	0.398000														81			9		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752532	19752532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:19752532C>T	uc009zzj.3	-	2	334	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	77					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.D76N(1)		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)		GTGCGCACTTCATCTACAAAA	0.473000														76			4		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165697	53165697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53165697C>T	uc001sax.3	-	5	1275	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	407	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCTGGATCATCCTGTTGA	0.557000														158			10		0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244716054	244716054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:244716054C>T	uc001iam.3	+	8	1026	c.967C>T	c.(967-969)Cct>Tct	p.P323S	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.3_Missense_Mutation_p.P323S|C1orf101_uc010pym.2_Missense_Mutation_p.P172S|C1orf101_uc010pyn.2_Missense_Mutation_p.P256S	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	323						integral to membrane		p.L322V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGTAAATCTTCCTGATGGTGG	0.294000														110			11		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708106	43708106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43708106G>A	uc002ovy.3	-	1	464	c.362C>T	c.(361-363)aCc>aTc	p.T121I	PSG4_uc002ovz.3_Missense_Mutation_p.T121I|PSG4_uc002owb.3_Missense_Mutation_p.T121I	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GATGTGTAAGGTGTAGGATCC	0.478000														257			32		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31873889	31873889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31873889C>T	uc002wyw.1	+	1	171	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	BPIFB1_uc010gej.1_Missense_Mutation_p.P4S	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	4						extracellular space	lipid binding	p.P4T(1)									GATGGCCGGCCCGTGGACCTT	0.617000														164			13		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43269030	43269030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:43269030C>T	uc001zqq.3	-	38	4320	c.4254G>A	c.(4252-4254)tgG>tgA	p.W1418*		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1418					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAGGGTCATCCCAATACAAGG	0.388000														26			7		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631927	101631927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:101631927G>A	uc003knm.3	-	0	327	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	14					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGGCTGGAGGGGACAAAAGCC	0.577000														35			5		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026697	37026697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37026697C>T	uc004ddl.2	+	0	266	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	72								p.R72C(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTTGTTTGTCGCCGTGACGA	0.532000														46			9		0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118460575	118460575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:118460575G>A	uc001lct.3	-	3	425	c.320C>T	c.(319-321)cCc>cTc	p.P107L	HSPA12A_uc001lcu.3_Missense_Mutation_p.P24L	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	107							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTTCCTCTCGGGAGTCAGCAA	0.562000														109			10		0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131858390	131858390	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131858390G>A	uc004bxh.3	-	12	1834	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	CRAT_uc004bxk.4_Nonsense_Mutation_p.R497*	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	518					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGCAGGTGTCGATCAAAGGCC	0.642000														163			22		0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153943785	153943785	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:153943785C>T	uc021xgc.1	+	10	2360	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	ARHGEF26_uc011bog.1_Silent_p.I692I|ARHGEF26_uc011boh.1_Silent_p.I692I|ARHGEF26_uc011boi.1_5'UTR	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	692	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TGCTCATTATCACCAAGAAGA	0.393000														30			3		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27423397	27423397	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:27423397T>C	uc002ylz.3	-	4	781	c.581A>G	c.(580-582)gAc>gGc	p.D194G	APP_uc010glk.3_Missense_Mutation_p.D189G|APP_uc002yma.3_Missense_Mutation_p.D194G|APP_uc011ach.2_Missense_Mutation_p.D138G|APP_uc021whz.1_Missense_Mutation_p.D194G|APP_uc021wia.1_Missense_Mutation_p.D194G|APP_uc002ymb.3_Missense_Mutation_p.D194G|APP_uc010glj.3_Missense_Mutation_p.D138G|APP_uc021wib.1_Missense_Mutation_p.D194G|APP_uc011aci.2_Missense_Mutation_p.D159G|APP_uc011acj.2_Missense_Mutation_p.D194G	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	194					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ATCCACATTGTCACTTTCTTC	0.527000														100			8		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2936550	2936550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2936550G>A	uc002lws.4	-	2	414	c.283C>T	c.(283-285)Cag>Tag	p.Q95*		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTGGTGCTGATCTCCAGTG	0.443000														55			9		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366243	15366243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15366243G>A	uc002nar.3	-	9	2134	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	BRD4_uc002nas.3_Nonsense_Mutation_p.Q638*|BRD4_uc002nat.3_Nonsense_Mutation_p.Q638*	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	638					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCCGTGACTGGATGATGTGC	0.577000			T	C15orf55	lethal midline carcinoma of young people									89			5		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738661	72738661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:72738661G>A	uc003txy.1	-	1	326	c.125C>T	c.(124-126)tCc>tTc	p.S42F	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.S42F|TRIM50_uc003txz.1_Missense_Mutation_p.S42F	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	42						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCAGGACAGGGAAACCAGGCA	0.657000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			4		0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56867157	56867157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:56867157C>T	uc002eka.3	+	12	1497	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	NUP93_uc002ekb.3_Missense_Mutation_p.P336L|NUP93_uc010vhi.2_Missense_Mutation_p.P336L	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	459					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AACCAGCAACCCTTCCTCTAC	0.552000														172			19		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079959	23079959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23079959C>T	uc002dll.3	-	15	3467	c.3467G>A	c.(3466-3468)aGa>aAa	p.R1156K	USP31_uc002dlk.3_Missense_Mutation_p.R428K|USP31_uc010vca.2_Missense_Mutation_p.R459K|USP31_uc010bxm.3_Missense_Mutation_p.R444K	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1156	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAGCCCTCTCTACTCAAGCT	0.612000														56			4		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128031	56128031	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56128031G>A	uc010rjh.2	+	0	341	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	103					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)					AACTGGGAGGGTTCTTGTTCT	0.423000														65			8		0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001260	13001260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:13001260C>T	uc001auq.2	-	2	509	c.423G>A	c.(421-423)atG>atA	p.M141I	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	141										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GCTGTCCTCTCATCCTTGGAC	0.512000														622			27		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470392	10470392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10470392C>T	uc003wtc.3	-	3	1445	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	406					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)		GTCCAGATTTCATACTTGGGC	0.672000														92			5		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60923639	60923639	+	Missense_Mutation	SNP	C	T	T	rs147627198		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:60923639C>T	uc001xez.4	-	14	1464	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	C14orf39_uc010apo.3_Missense_Mutation_p.E163K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	452								p.E452K(2)		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)		TCCTACATTTCGAACGGGGGG	0.318000														103			9		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665885	19665885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:19665885G>A	uc002wrl.3	+	11	1401	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	402						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACGGAGGGACGATGTTGTGGC	0.532000														48			5		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115085432	115085432	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:115085432T>C	uc001ppi.4	-	6	1019	c.890A>G	c.(889-891)aAc>aGc	p.N297S	CADM1_uc001ppf.4_Missense_Mutation_p.N297S|CADM1_uc001ppk.4_Missense_Mutation_p.N297S|CADM1_uc001ppj.4_Missense_Mutation_p.N297S|CADM1_uc001ppl.3_Missense_Mutation_p.N297S|CADM1_uc001pph.4_Missense_Mutation_p.N49S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	297	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GATGAACAGGTTGGGCCCAGA	0.473000														99			8		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97599471	97599471	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97599471T>C	uc010qoj.2	+	2	267	c.204T>C	c.(202-204)ggT>ggC	p.G68G	ENTPD1_uc001kle.1_Silent_p.G63G|ENTPD1_uc001kli.4_Silent_p.G63G|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_5'UTR|ENTPD1_uc010qol.2_5'UTR|ENTPD1_uc001klh.4_Silent_p.G56G|ENTPD1_uc010qom.2_Silent_p.G56G|ENTPD1_uc010qon.2_5'UTR|ENTPD1_uc009xva.3_Intron	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	56					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGGATGCGGGTTCTTCTCACA	0.423000														140			7		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109509434	109509434	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:109509434C>T	uc010sxi.2	+	4	602	c.498C>T	c.(496-498)ttC>ttT	p.F166F	USP30_uc001tnu.4_Silent_p.F135F	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	166					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ACGAATTATTCCATGTCATTA	0.478000														105			10		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30186469	30186469	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30186469G>A	uc003agr.3	-	18	2235	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	ASCC2_uc011akr.2_Silent_p.L621L|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTTTCTTGGCGAGAAAGGCCA	0.597000														60			6		0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10687890	10687890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10687890C>T	uc002mpd.3	-	8	1121	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N	AP1M2_uc002mpc.3_Missense_Mutation_p.S344N	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	344	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGACTTAATACTCCAAATCAC	0.582000														39			3		0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2279163	2279163	+	Silent	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:2279163C>G	uc002fum.4	+	17	2655	c.2478C>G	c.(2476-2478)gcC>gcG	p.A826A	SGSM2_uc002fun.4_Silent_p.A781A|SGSM2_uc010vqw.2_Silent_p.A781A|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	781	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTGCGGCTGCCTACACTGTGC	0.672000														72			10		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29234332	29234332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29234332G>A	uc010ezl.3	+	6	1193	c.842G>A	c.(841-843)gGg>gAg	p.G281E	FAM179A_uc010ymm.2_Missense_Mutation_p.G281E|FAM179A_uc002rmr.4_5'Flank	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	281							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGCTCGGGGGAGTGGGCCT	0.582000														46			4		0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509263	22509263	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22509263C>T	uc021rpo.1	+	1	267	c.201C>T	c.(199-201)ttC>ttT	p.F67F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		GCCCTGAATTCCTCTTCACCC	0.473000														8			3		0	0	1	0	0
NMT1	4836	broad.mit.edu	37	17	43181233	43181233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43181233C>T	uc002ihz.3	+	9	1339	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	NMT1_uc010dad.1_Missense_Mutation_p.L101F	NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	441					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CGCCCTTGTCCTCGCCAAAAT	0.572000														199			17		0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8321833	8321833	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8321833G>A	uc002mjg.3	+	9	933	c.613_splice	c.e9-1	p.D205_splice	CERS4_uc002mji.3_Splice_Site_p.D41_splice|CERS4_uc010dvz.3_Splice_Site_p.D205_splice	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	205	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTACTGCAGGATTTCAAGGA	0.577000														431			47		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137041714	137041714	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:137041714C>T	uc003qhc.3	-	1	823	c.462G>A	c.(460-462)gtG>gtA	p.V154V	MAP3K5_uc011edk.1_5'UTR|MAP3K5_uc010kgw.1_Silent_p.V154V	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	154					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CGCTCATCTCCACCACCGCAA	0.443000														36			8		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900182	202900183	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:202900182_202900183CC>TT	uc002uyw.1	+	0	873_874	c.812_813CC>TT	c.(811-813)acc>aTT	p.T271I		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	271					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGCTCTTTACCGTTCTCACCT	0.639000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		282			15		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37492087	37492087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:37492087G>A	uc003aqt.1	-	4	510	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	TMPRSS6_uc003aqs.1_Missense_Mutation_p.P159S|TMPRSS6_uc003aqu.3_Missense_Mutation_p.P150S	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	159					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.T149N(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CGGTGCTCGGGGATTTGGAGA	0.627000														81			11		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78784672	78784672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:78784672C>T	uc004akc.2	+	12	2210	c.1672C>T	c.(1672-1674)Cat>Tat	p.H558Y	PCSK5_uc004ajy.2_Missense_Mutation_p.H558Y|PCSK5_uc004ajz.3_Missense_Mutation_p.H558Y|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	558	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CATGACCATTCATTGCTGGGG	0.423000														93			11		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212488710	212488710	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:212488710C>T	uc002veg.1	-	17	2237	c.2139G>A	c.(2137-2139)ttG>ttA	p.L713L	ERBB4_uc002veh.1_Silent_p.L713L|ERBB4_uc010zji.1_Silent_p.L703L|ERBB4_uc010zjj.1_Silent_p.L703L|ERBB4_uc010fut.1_Silent_p.L713L	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.	713					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			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)		CAGTTTCTTTCAAAATACGAA	0.403000										TSP Lung(8;0.080)				58			8		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922370	104922370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:104922370G>A	uc003yls.3	+	2	1208	c.967G>A	c.(967-969)Gat>Aat	p.D323N	RIMS2_uc003ylp.3_Missense_Mutation_p.D545N|RIMS2_uc003ylw.2_Missense_Mutation_p.D353N|RIMS2_uc003ylq.3_Missense_Mutation_p.D353N|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	612					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGAGACATGGATTACAACTG	0.408000										HNSCC(12;0.0054)				145			17		0	0	1	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497290	39497290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39497290G>A	uc021wpt.1	+	2	326	c.199G>A	c.(199-201)Gga>Aga	p.G67R	APOBEC3H_uc021wps.1_Missense_Mutation_p.G67R|APOBEC3H_uc021wpu.1_Missense_Mutation_p.G67R|APOBEC3H_uc021wpv.1_Missense_Mutation_p.G67R	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	67					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CAAGTCCATGGGACTGGACGA	0.537000														124			7		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24690166	24690166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:24690166G>A	uc003swx.3	+	5	785	c.486G>A	c.(484-486)atG>atA	p.M162I	MPP6_uc003swy.3_Missense_Mutation_p.M162I	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	162	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGGGGAATGATAGATCGAC	0.343000														70			8		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248730	3248730	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3248730G>A	uc004crg.4	-	2	430	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	91						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)				GGATGCTTGGGATCTCATTGC	0.438000														34			6		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557706	138557706	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:138557706G>A	uc004cgk.1	+	6	476	c.476_splice	c.e6-1	p.D159_splice		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	159						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TGTCCTTCCAGATCCCTGCTA	0.697000														26			4		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143718222	143718222	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:143718222C>T	uc010fnm.3	+	8	828	c.612C>T	c.(610-612)atC>atT	p.I204I	KYNU_uc002tvk.3_Silent_p.I204I|KYNU_uc002tvl.3_Silent_p.I204I	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	204					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TAGAGGATATCCTTGAAGTAA	0.368000														42			8		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298434	107298434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107298434C>T	uc004bcb.1	-	0	661	c.661G>A	c.(661-663)Gat>Aat	p.D221N		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGGGATATATCAGCACAGGCC	0.393000														111			6		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175803	143175803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143175803C>T	uc003wdc.1	+	0	838	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	280					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATCTGTCCATCCCTTCATCCT	0.498000														54			5		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65359559	65359559	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:65359559G>A	uc001oeo.4	+	17	4735	c.4470G>A	c.(4468-4470)cgG>cgA	p.R1490R		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	1490										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACAAGGAGCGGATGTGAGTGG	0.677000														57			8		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726643	25726643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:25726643C>T	uc003nfc.3	-	0	148	c.113G>A	c.(112-114)gGa>gAa	p.G38E	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	38					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGCATAGTTTCCCTTACGAAG	0.552000														45			6		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414213	61414213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61414213G>A	uc010qig.1	-	4	1020	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	191					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						GAAGATTGGAGGGGTCTCATC	0.403000														84			12		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032949	16032949	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16032949G>T	uc002nbu.2	-	8	1049	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y	CYP4F11_uc010eab.1_Missense_Mutation_p.S338Y|CYP4F11_uc002nbt.2_Missense_Mutation_p.S338Y	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	338					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TAGGACCCAGGAGAGACCACT	0.542000														70			4		0.150653	0.15096	1	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69002468	69002468	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:69002468C>T	uc010fdg.3	+	1	596	c.177C>T	c.(175-177)atC>atT	p.I59I	ARHGAP25_uc010yqk.2_Silent_p.I33I|ARHGAP25_uc010yql.2_Silent_p.I59I|ARHGAP25_uc002sev.3_Silent_p.I52I|ARHGAP25_uc002sew.3_Silent_p.I52I|ARHGAP25_uc002sex.3_Silent_p.I52I|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	59	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q58*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAGGTCCATCGTGAAGAACT	0.582000														192			24		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976448	43976448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43976448C>T	uc003bdy.2	-	24	3438	c.3124G>A	c.(3124-3126)Gaa>Aaa	p.E1042K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E890K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E890K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E268K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTTCTTTTTCCTTGGGCTGA	0.502000														338			15		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891842	18891842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18891842G>A	uc001rdy.3	+	0	798	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	214					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGAAAGCTTGGAAATAGTTAA	0.398000														34			7		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576090	115576090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115576090G>A	uc001efs.1	+	1	175	c.107G>A	c.(106-108)tGt>tAt	p.C36Y		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	36					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AGGAGAGAGTGTGCTTATTGC	0.418000														179			24		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5246352	5246352	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:5246352T>G	uc001ihw.2	+	2	298	c.265T>G	c.(265-267)Ttc>Gtc	p.F89V		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	89					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TTGGTGCACTTTCTTTCAACC	0.363000														91			11		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903668	20903669	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:20903668_20903669GG>AA	uc010sii.2	+	14	2213_2214	c.1858_1859GG>AA	c.(1858-1860)gga>AAa	p.G620K	SLCO1C1_uc010sij.2_Missense_Mutation_p.G571K|SLCO1C1_uc009zip.3_Missense_Mutation_p.G454K|SLCO1C1_uc001rei.3_Missense_Mutation_p.G620K|SLCO1C1_uc010sik.2_Missense_Mutation_p.G502K	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	620					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCTCAAATGGGGATTTAAAAGA	0.376000														80			9		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114168236	114168236	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114168236T>A	uc001kzu.3	+	5	769	c.657T>A	c.(655-657)taT>taA	p.Y219*	ACSL5_uc001kzs.3_Nonsense_Mutation_p.Y163*|ACSL5_uc001kzt.3_Nonsense_Mutation_p.Y163*|ACSL5_uc009xxz.3_Nonsense_Mutation_p.Y163*|ACSL5_uc010qrj.2_5'Flank	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	163					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TACCTCTGTATGACACCTTGG	0.418000														134			19		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232490	5232490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:5232490G>A	uc003jdl.3	+	11	1849	c.1711G>A	c.(1711-1713)Gga>Aga	p.G571R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G571R|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	571	Disintegrin.				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						GTGGTGCCGGGGAGGACAGTG	0.517000														87			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38976596	38976596	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38976596G>A	uc021yzh.1	+	88	13330	c.13221G>A	c.(13219-13221)caG>caA	p.Q4407Q	DNAH8_uc003ooe.2_Silent_p.Q4190Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTAGGTATCAGAGTAACACTG	0.393000														110			7		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97439158	97439158	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:97439158A>T	uc010how.1	+	14	2881	c.2838A>T	c.(2836-2838)aaA>aaT	p.K946N	EPHA6_uc003drt.3_Missense_Mutation_p.K338N|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	851						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCTACAGAAAATTCTCCTCAG	0.448000														99			8		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113424927	113424927	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113424927C>T	uc001tuj.3	+	1	402	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	OAS2_uc001tuh.3_Nonsense_Mutation_p.Q88*|OAS2_uc001tui.1_Nonsense_Mutation_p.Q88*	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	88	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACAATTCCAGGATCAGAA	0.453000														100			10		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773519	151773519	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:151773519A>G	uc001ezf.1	-	1	1852	c.1662T>C	c.(1660-1662)atT>atC	p.I554I	LINGO4_uc021oyu.1_Silent_p.I554I	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	554						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAAAGGGCAATCAGGCCAA	0.567000														165			24		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49718605	49718605	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49718605C>T	uc010hkw.1	+	14	1771	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	APEH_uc003cxf.3_Silent_p.P457P	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	457					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)		AGGCCGAGCCCATTCCCGACA	0.592000														72			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13862707	13862707	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13862707G>A	uc003jfd.2	-	28	4788	c.4746C>T	c.(4744-4746)atC>atT	p.I1582I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1582	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATGTTGGCGATGATTTCCG	0.453000									Kartagener syndrome					70			4		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871891	51871891	+	Missense_Mutation	SNP	G	A	A	rs141129077		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:51871891G>A	uc002xwo.3	+	1	2781	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	TSHZ2_uc021wex.1_Missense_Mutation_p.D629N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	632					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)			CAGTGAGGGCGATTCTTTCCG	0.512000														81			11		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78337001	78337001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:78337001C>T	uc002jyh.2	+	40	11745	c.11602C>T	c.(11602-11604)Cag>Tag	p.Q3868*	RNF213_uc021uen.1_Nonsense_Mutation_p.Q3819*|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTTGCCTACCAGCGTTTCAG	0.557000														122			9		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492524	74492524	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:74492524A>G	uc001dfy.4	-	7	2040	c.1848T>C	c.(1846-1848)ttT>ttC	p.F616F	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.	616								p.D615D(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						TGGGAACTTTAAAGTCTAAAT	0.284000														22			4		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6251088	6251088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:6251088C>T	uc003mwv.3	-	4	769	c.646G>A	c.(646-648)Gga>Aga	p.G216R	F13A1_uc011dib.2_Missense_Mutation_p.G153R	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	216					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G216G(1)		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)	TTGACCTCTCCATAAAAAATT	0.383000														61			4		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694117	84694117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84694117C>T	uc002bjz.4	+	26	4809	c.4585C>T	c.(4585-4587)Cct>Tct	p.P1529S	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P1529S	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1529	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCATGTGCCCCTAAAGACCG	0.522000														49			4		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371305	76371305	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76371305G>A	uc001oxq.4	-	2	1575	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	LRRC32_uc001oxr.4_Silent_p.S444S|LRRC32_uc010rsf.2_Silent_p.S444S	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	444						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGCTGCGGAGGGAGGTGATGC	0.647000														15			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938673	89938673	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:89938673G>A	uc003kju.3	+	13	2464	c.2368_splice	c.e13-1	p.E790_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	790					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)		GTTTTTAAAGGAAGGAGAATC	0.373000														78			7		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76681113	76681113	+	RNA	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:76681113T>C	uc003ufy.2	+	4		c.1090T>C								Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA.																		GCACAAATGGTTCCTCTCCTC	0.517000														122			7		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572769	25572769	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:25572769G>A	uc002kwg.2	-	8	1653	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	CDH2_uc010xbn.1_Silent_p.I367I	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	398	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TAGCTACTATGATGTCTACCC	0.488000														85			7		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088099	86088099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:86088099C>T	uc021rxf.1	+	0	241	c.241C>T	c.(241-243)Cct>Tct	p.P81S	FLRT2_uc001xvr.3_Missense_Mutation_p.P81S|FLRT2_uc010atd.3_Missense_Mutation_p.P81S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	81					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCTGGATTTCCTGCAGAACT	0.488000														170			11		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32605241	32605241	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32605241C>T	uc003obr.3	+	0	59	c.6C>T	c.(4-6)atC>atT	p.I2I	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.I2I	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	2					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGAGGATGATCCTAAACAAAG	0.522000														43			3		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521892	131521892	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131521892C>T	uc021voy.1	+	0	2247	c.2247C>T	c.(2245-2247)gtC>gtT	p.V749V	FAM123C_uc002trw.2_Silent_p.V749V|FAM123C_uc010fmv.2_Silent_p.V749V|FAM123C_uc010fms.1_Silent_p.V749V|FAM123C_uc010fmt.1_Silent_p.V749V|FAM123C_uc010fmu.1_Silent_p.V749V	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	749								p.R748C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GAGATCGTGTCCAGGACCTGA	0.637000														57			3		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34400132	34400132	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:34400132G>T	uc010qej.2	-	24	4366	c.4036C>A	c.(4036-4038)Cag>Aag	p.Q1346K	PARD3_uc010qep.2_Missense_Mutation_p.Q1256K|PARD3_uc010qeq.2_Missense_Mutation_p.Q1234K|PARD3_uc010qek.2_Missense_Mutation_p.Q1343K|PARD3_uc010qel.2_Missense_Mutation_p.Q1309K|PARD3_uc010qem.2_Missense_Mutation_p.Q1330K|PARD3_uc010qen.2_Missense_Mutation_p.Q1300K|PARD3_uc010qeo.2_Missense_Mutation_p.Q1263K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1346					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)				TCAGGAGTCTGAAGTCTGTTC	0.517000														69			6		0.00198382	0.00199191	1	1	0
CLASP1	23332	broad.mit.edu	37	2	122285421	122285421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:122285421G>A	uc002tnc.3	-	4	814	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.R142C|CLASP1_uc010yza.2_Missense_Mutation_p.R142C|CLASP1_uc021vnl.1_Missense_Mutation_p.R142C|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.R142C	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	142					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCTCGAGTACGGAAATTCTTG	0.438000														58			10		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219886646	219886646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219886646C>T	uc002vjl.1	-	17	3070	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	996						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)		AGCTCCTTTTCCTTTGCCTGG	0.592000														146			14		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092839	51092839	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:51092839G>A	uc003tps.3	-	12	3950	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I	COBL_uc003tpr.4_Silent_p.I1245I|COBL_uc011kcl.2_Silent_p.I1198I|COBL_uc003tpp.4_Silent_p.I1031I|COBL_uc003tpq.4_Silent_p.I1139I|COBL_uc003tpo.4_Silent_p.I787I	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1245	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCCGGAGCGGATGGCGTCCA	0.632000														233			19		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629518	1629518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1629518G>A	uc001ltw.1	-	0	176	c.98C>T	c.(97-99)tCc>tTc	p.S33F	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	33						keratin filament		p.G32V(1)		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)		ACAGCAGCCGGAGCCACAGCC	0.677000														223			33		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857960	9857960	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9857960G>A	uc010uym.2	-	13	3751	c.3441C>T	c.(3439-3441)ttC>ttT	p.F1147F	GRIN2A_uc002czo.4_Silent_p.F1147F|GRIN2A_uc010uyn.2_Silent_p.F990F|GRIN2A_uc002czr.4_Silent_p.F1147F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1147					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGTCCGGGAAGTCCACGT	0.527000														93			6		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976132	4976132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4976132G>A	uc010qyt.2	-	0	812	c.812C>T	c.(811-813)cCc>cTc	p.P271L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTAATGAGGGGAGAGACATG	0.443000														99			15		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756722	139756722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139756722C>T	uc003vvl.1	-	2	1568	c.694G>A	c.(694-696)Gac>Aac	p.D232N	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	232						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTTGATGTCATGTGCATTT	0.498000														123			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018545	9018545	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9018545C>T	uc002mkp.3	-	23	37833	c.37629G>A	c.(37627-37629)ctG>ctA	p.L12543L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12545	SEA 4.				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						TGAACAGCACCAGGAGAGGGC	0.463000														173			16		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199120	24199120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24199120G>A	uc003xdy.3	+	15	1763	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.M247I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	560	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGATACCATGTGTGGGAAGT	0.383000														200			13		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510699	38510699	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38510699G>A	uc010ive.1	-	6	1190	c.858C>T	c.(856-858)aaC>aaT	p.N286N	LIFR_uc003jli.2_Silent_p.N286N	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	286					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCAAGGGGCAGTTTGTATGGC	0.373000			T	PLAG1	salivary adenoma									49			4		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062937	76062937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:76062937C>T	uc003ufd.4	+	3	696	c.686C>T	c.(685-687)cCt>cTt	p.P229L	ZP3_uc003ufc.4_Missense_Mutation_p.P178L|ZP3_uc003ufe.3_Missense_Mutation_p.P137L	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	229	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AATGCCTCCCCTTATCACACC	0.567000														179			15		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664073	196664073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196664073G>A	uc002utj.4	-	54	10401	c.10300C>T	c.(10300-10302)Ctc>Ttc	p.L3434F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3434	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V3433M(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAGGAGAGAGCACGAAAATC	0.423000														109			6		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132441	193132441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:193132441G>A	uc003ftd.3	-	25	3049	c.2941C>T	c.(2941-2943)Ctc>Ttc	p.L981F	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	981					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L981F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCAGGCTGAGAAGAATGTTG	0.498000														74			6		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117638418	117638418	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117638418T>C	uc003pxp.1	-	37	6222	c.6023A>G	c.(6022-6024)aAc>aGc	p.N2008S	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2008	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAGAATGTTGGGATGATT	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									102			6		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829070	57829070	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57829070C>G	uc002yan.3	+	4	4306	c.4306C>G	c.(4306-4308)Ccc>Gcc	p.P1436A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1436						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)					CGTGCCTCTACCCCCTGGCAA	0.527000														57			4		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130064064	130064064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:130064064C>T	uc001qfw.3	+	7	1089	c.896C>T	c.(895-897)cCc>cTc	p.P299L	ST14_uc010sca.1_Missense_Mutation_p.P109L	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	299	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACCTACCCTCCCTCCTACAAC	0.587000														235			23		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330955	21330956	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21330955_21330956CC>TT	uc002kuq.3	+	4	844_845	c.758_759CC>TT	c.(757-759)acc>aTT	p.T253I	LAMA3_uc010dlv.2_Missense_Mutation_p.T253I|LAMA3_uc002kur.3_Missense_Mutation_p.T253I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	253	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGAGTTTACCAAGGCAACAA	0.475000														102			10		0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13873196	13873196	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:13873196C>T	uc002mxc.1	+	8	874	c.657C>T	c.(655-657)ccC>ccT	p.P219P	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	219					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CGCTGGTGCCCGAGACGGAAG	0.612000														57			5		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471806	47471806	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47471806T>C	uc001rpm.3	-	2	1635	c.980A>G	c.(979-981)gAt>gGt	p.D327G	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.D327G|AMIGO2_uc001rpl.3_Missense_Mutation_p.D327G|AMIGO2_uc021qxg.1_Missense_Mutation_p.D327G	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	327	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGTCTGTTATCTGGACCCAC	0.463000														210			11		0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38936698	38936698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38936698C>T	uc002hvg.3	-	2	579	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGCTAGCTCGTTTTCAAAC	0.453000														34			3		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903788	129903788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:129903788G>A	uc001lke.3	-	12	6511	c.6316C>T	c.(6316-6318)Cca>Tca	p.P2106S	MKI67_uc001lkf.3_Missense_Mutation_p.P1746S|MKI67_uc009yav.1_Missense_Mutation_p.P1681S|MKI67_uc009yaw.1_Missense_Mutation_p.P1256S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2106	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTGGTGGTGGAGATTTGCAG	0.493000														352			33		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167623	140167623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140167623G>A	uc003lhb.2	+	0	1748	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R583Q	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	596					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)			CTGGTGCCGCGATTGGTGGGT	0.662000														123			12		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647890	7647890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7647890C>T	uc001qsz.3	-	5	1335	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R	CD163_uc001qta.3_Missense_Mutation_p.G403R|CD163_uc009zfw.2_Missense_Mutation_p.G403R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	403	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G403*(2)		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						TCTTTCAGTCCCCAGCCTCTG	0.502000														91			10		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880857	142880857	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142880857A>G	uc011ksw.2	+	0	346	c.346A>G	c.(346-348)Agt>Ggt	p.S116G		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	116					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ATTCAAAATAAGTTTTATATT	0.373000														71			5		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35944284	35944284	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:35944284G>T	uc004ddj.3	+	2	467	c.401_splice	c.e2+1	p.G134_splice	CXorf22_uc010ngv.3_Splice_Site	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	134										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCCTCTAATTGGGTATGTAAT	0.313000														18			4		2.7689e-08	2.79588e-08	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57132020	57132020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:57132020G>A	uc003dil.3	-	11	1800	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	IL17RD_uc003dik.3_Missense_Mutation_p.P547S|IL17RD_uc010hna.3_Missense_Mutation_p.P427S|IL17RD_uc011bex.1_Missense_Mutation_p.P427S	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	571						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TAGCGCAGTGGAGGAGGATGG	0.517000														46			5		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324390	7324390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7324390C>T	uc001mfe.3	+	1	503	c.266C>T	c.(265-267)tCt>tTt	p.S89F	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	89						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGCCTGCCCTCTGGTAGCAAA	0.557000														91			4		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84744883	84744883	+	Missense_Mutation	SNP	G	A	A	rs117241349		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:84744883G>A	uc021pvc.1	+	9	1712	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	NRG3_uc010qlz.1_Missense_Mutation_p.R537Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R538Q|NRG3_uc001kcp.2_Missense_Mutation_p.R341Q|NRG3_uc001kcq.2_Missense_Mutation_p.R188Q|NRG3_uc021pvd.1_Missense_Mutation_p.R317Q|NRG3_uc021pve.1_Missense_Mutation_p.R342Q|NRG3_uc021pvf.1_Missense_Mutation_p.R188Q|NRG3_uc021pvg.1_Missense_Mutation_p.R366Q|NRG3_uc021pvh.1_Missense_Mutation_p.R150Q|NRG3_uc021pvi.1_Missense_Mutation_p.R368Q|NRG3_uc021pvk.1_Missense_Mutation_p.R78Q|NRG3_uc001kcr.2_Missense_Mutation_p.R212Q|NRG3_uc021pvl.1_Missense_Mutation_p.R188Q	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	562					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R538Q(1)|p.R341Q(1)|p.D562H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AAAACCCAACGAAATACATCA	0.408000														155			23		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000423	56000423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56000423C>T	uc010rjc.2	-	0	239	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G80E(2)|p.M79R(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCCTAAATTTCCCATGAGAGT	0.413000														51			6		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100813	66100813	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66100813G>A	uc001ohn.1	-	8	1918	c.1791C>T	c.(1789-1791)acC>acT	p.T597T	RIN1_uc010roy.1_Silent_p.T228T|RIN1_uc009yrd.1_Silent_p.T290T|RIN1_uc010roz.1_Silent_p.T492T|RIN1_uc010rpa.1_Silent_p.T431T	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	597	Ras and 14-3-3 protein binding region.|VPS9.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCAGTGGGAGGGTGTGGGCCT	0.682000														38			6		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43420351	43420351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43420351G>A	uc002ovj.1	-	1	452	c.353C>T	c.(352-354)tCc>tTc	p.S118F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.S118F	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	119	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAAGGTGTAGGATCCTGCATC	0.478000														400			15		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576414	158576414	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158576414C>T	uc010pio.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGTACCTCTTCCTTTCCTTCC	0.517000														218			16		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261862	160261862	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160261862G>A	uc001fvv.4	-	28	3508	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	COPA_uc009wti.3_Silent_p.F1029F	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1029					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGGAACGGAATTTTTCCA	0.512000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		208			21		0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179460024	179460024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:179460024C>T	uc003fkh.3	+	11	1501	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	474					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CGATGTTTTTCGTTTTTTGGT	0.473000														62			8		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641494	99641494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:99641494G>A	uc001yga.3	-	3	1946	c.1679C>T	c.(1678-1680)tCg>tTg	p.S560L	BCL11B_uc001ygb.3_Missense_Mutation_p.S489L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	560						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTCAGCTCCGAGTCCATGCT	0.726000			T	TLX3	T-ALL									8			3		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124096240	124096240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124096240G>A	uc010saf.2	+	0	843	c.843G>A	c.(841-843)atG>atA	p.M281I		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	281						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TCAGCTCCATGGACCAGGGGA	0.473000														75			12		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414812	21414812	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:21414812G>A	uc001iqm.3	-	1	459	c.408C>T	c.(406-408)ttC>ttT	p.F136F	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	136										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTATGCCCTGGAATTTAAATC	0.433000														126			11		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216060	20216060	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20216060C>T	uc010tkt.2	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCACTCTATCATGCAGGTCA	0.507000														35			4		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136289454	136289454	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:136289454C>T	uc004cdv.4	+	2	630	c.186C>T	c.(184-186)tcC>tcT	p.S62S	ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Silent_p.S62S|ADAMTS13_uc004cdu.1_Silent_p.S62S|ADAMTS13_uc004cdw.4_Silent_p.S62S|ADAMTS13_uc004cdx.4_Silent_p.S62S|ADAMTS13_uc004cdq.1_Silent_p.S62S|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_5'UTR	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	62					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCCTCCTTCCCCTGGCTTCc	0.652000														116			30		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43153745	43153745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43153745C>T	uc003ouk.3	+	3	878	c.803C>T	c.(802-804)tCc>tTc	p.S268F	CUL9_uc003ouj.1_Missense_Mutation_p.S268F|CUL9_uc003oul.3_Missense_Mutation_p.S268F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	268					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						TGTGTCACGTCCCTCCTGGAT	0.542000														60			5		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31336837	31336837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31336837G>A	uc002ebr.3	+	20	2623	c.2525G>A	c.(2524-2526)cGa>cAa	p.R842Q	ITGAM_uc002ebq.3_Missense_Mutation_p.R841Q|ITGAM_uc010can.3_Missense_Mutation_p.R247Q|ITGAM_uc002ebs.1_Missense_Mutation_p.R247Q	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	841					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGCTCACAGCGATCCTGGCGC	0.602000														62			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236168	21236168	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21236168C>T	uc002red.3	-	24	4208	c.4080G>A	c.(4078-4080)acG>acA	p.T1360T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1360					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTAGACATTCGTGGAGAGGT	0.512000														183			9		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157405921	157405921	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:157405921C>T	uc003qqp.3	+	4	2124	c.2124C>T	c.(2122-2124)tcC>tcT	p.S708S	ARID1B_uc003qqo.3_Silent_p.S721S|ARID1B_uc003qqn.3_Silent_p.S708S|ARID1B_uc003qqq.1_Silent_p.S92S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	708	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCCTTTCTCCCCACATGCGT	0.617000														112			10		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735764	172735764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:172735764G>A	uc003isv.3	+	1	769	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	11						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCTGCAGATGACTTTGTTGT	0.458000														56			5		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101759870	101759870	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:101759870A>G	uc001vox.1	-	21	2736	c.2547T>C	c.(2545-2547)ttT>ttC	p.F849F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	849						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACCCGGCAAAAGTTTCTGA	0.507000														72			9		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86912889	86912889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:86912889G>A	uc010mpz.3	-	6	861	c.715C>T	c.(715-717)Ctt>Ttt	p.L239F	SLC28A3_uc011lsy.2_Missense_Mutation_p.L170F|SLC28A3_uc004anu.2_Missense_Mutation_p.L239F|SLC28A3_uc010mqb.3_Missense_Mutation_p.L170F	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	239					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAGCCCAAGAAGAAACTGT	0.413000														103			9		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887537	3887537	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:3887537A>G	uc003bpt.4	+	1	1973	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.E404E	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	404	LRRCT.					integral to membrane		p.P403P(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCCGCCCGAATATAAAGGGC	0.493000														73			9		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323882	88323882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:88323882C>T	uc001pcq.3	-	5	1777	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	GRM5_uc009yvm.3_Missense_Mutation_p.G526E	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	526					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGACTTCTCCCTTTCGGAT	0.393000														81			5		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469289	72469289	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:72469289C>T	uc010izc.3	+	0	267	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	73						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)		GGACCCAGCTCCTTGGGCCCG	0.507000														63			13		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318112	176318112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:176318112C>T	uc003mfa.3	-	3	432	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HK3_uc003mez.3_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	114	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATGCCCCTCAATGCCAGTT	0.612000														91			6		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26878656	26878656	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:26878656T>A	uc001rhg.3	-	2	623	c.206A>T	c.(205-207)cAg>cTg	p.Q69L	ITPR2_uc001rhh.1_Missense_Mutation_p.Q7L|ITPR2_uc001rhi.1_Missense_Mutation_p.Q69L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	69					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATATTGCTTCTGGGCAGAATA	0.438000														38			3		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2638194	2638194	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:2638194C>T	uc003sml.1	+	16	1720	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	IQCE_uc010ksm.1_Silent_p.S512S|IQCE_uc011jvy.1_Silent_p.S496S|IQCE_uc011jvz.1_Silent_p.S447S|IQCE_uc003smo.4_Silent_p.S512S|IQCE_uc003smk.4_Silent_p.S496S|IQCE_uc003smn.4_Silent_p.S447S	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	512										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGCCCCGCTCCCCCTGCTCTG	0.701000														63			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060859	9060859	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9060859T>C	uc002mkp.3	-	2	26791	c.26587A>G	c.(26587-26589)Acc>Gcc	p.T8863A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8865	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						GAAGGTGAGGTTACTGCAGAT	0.512000														93			6		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25836914	25836914	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:25836914G>A	uc003gru.4	-	2	917	c.765C>T	c.(763-765)gcC>gcT	p.A255A		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	255						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTCCACTGGAGGCATAAGGAA	0.488000														93			5		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307918	46307919	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46307918_46307919GG>AA	uc002pdm.3	-	2	1415_1416	c.1244_1245CC>TT	c.(1243-1245)ccc>cTT	p.P415L	RSPH6A_uc002pdl.3_Missense_Mutation_p.P151L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	415						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCTCCTCCTTGGGGATCACGGG	0.658000														66			11		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683409	218683409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:218683409C>T	uc002vgt.2	-	23	3732	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	TNS1_uc002vgr.2_Missense_Mutation_p.E1099K|TNS1_uc002vgs.2_Missense_Mutation_p.E1091K|TNS1_uc010zjv.1_Missense_Mutation_p.E1091K	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1112	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAGCCAGACTCCAACAGAGGC	0.627000														87			6		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874367	74874367	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:74874367G>A	uc001xpx.2	-	3	836	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	196					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGGCCAGGCGGAAGTCCCCTT	0.662000														161			14		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695149	42695149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:42695149G>A	uc021xxv.1	+	4	555	c.418G>A	c.(418-420)Ggt>Agt	p.G140S	GHR_uc003jmt.3_Missense_Mutation_p.G133S|GHR_uc003jmu.3_Missense_Mutation_p.G133S|GHR_uc003jmv.2_Missense_Mutation_p.G133S|GHR_uc021xxw.1_Missense_Mutation_p.G133S|GHR_uc021xxx.1_Missense_Mutation_p.G133S|GHR_uc021xxy.1_Missense_Mutation_p.G133S|GHR_uc021xxz.1_Missense_Mutation_p.G133S|GHR_uc021xya.1_Missense_Mutation_p.G133S|GHR_uc021xyb.1_Missense_Mutation_p.G133S|GHR_uc021xyc.1_Missense_Mutation_p.G133S|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.G111S	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	133					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AACTAGCAATGGTGGTACAGT	0.363000														43			7		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547539	125547539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:125547539G>A	uc010flu.3	+	17	3177	c.2813G>A	c.(2812-2814)gGa>gAa	p.G938E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G937E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	937	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Q938Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTTGAATGGACAGAAAATG	0.507000														84			12		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570518	61570518	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61570518C>T	uc010xeu.2	+	8	1560	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SERPINB2_uc002ljo.3_Silent_p.F409F|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	409					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.F409I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTTATTTTTCGGCAGATTTT	0.388000														48			4		0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15059002	15059002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:15059002C>T	uc010qby.1	-	6	498	c.189G>A	c.(187-189)tgG>tgA	p.W63*	DCLRE1C_uc021pni.1_Intron			Q8N6N7	ACBD7_HUMAN	Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.	0	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						TCTGAGTGATCCAGCTTTGAA	0.448000														189			14		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81213265	81213265	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81213265G>A	uc002fgh.1	-	12	2245	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Nonsense_Mutation_p.R64*|PKD1L2_uc002fgj.3_Nonsense_Mutation_p.R749*|PKD1L2_uc002fgk.1_5'Flank|PKD1L2_uc002fgl.1_Nonsense_Mutation_p.R64*	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	749	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTCTGATTCGGATGACCTCT	0.498000														102			7		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1520736	1520736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1520736C>T	uc002qwr.3	+	14	2686	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.S867L|TPO_uc002qwx.3_Missense_Mutation_p.S810L|TPO_uc002qwu.3_Missense_Mutation_p.S810L|TPO_uc010yio.2_Missense_Mutation_p.S694L|TPO_uc010yip.2_Missense_Mutation_p.S823L|TPO_uc002qwy.1_Missense_Mutation_p.S163L|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	867					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S867S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGTCTCACCTCGACGGTGATT	0.537000														37			4		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47349880	47349880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:47349880C>T	uc010gqb.3	+	11	1030	c.767C>T	c.(766-768)cCc>cTc	p.P256L	PCBP3_uc002zhp.2_Missense_Mutation_p.P256L|PCBP3_uc002zhq.2_Missense_Mutation_p.P256L|PCBP3_uc002zhs.2_Missense_Mutation_p.P230L|PCBP3_uc002zht.2_Missense_Mutation_p.P246L	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	256					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCTTTCCTCCCCTCGGACAG	0.542000														246			22		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6181208	6181208	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:6181208C>T	uc001amb.2	-	32	4980	c.4869G>A	c.(4867-4869)gaG>gaA	p.E1623E	CHD5_uc001alz.2_Silent_p.E480E|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1623					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCCGTCTCCTCTGGCCGCT	0.667000														32			6		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86279	86279	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrGL000211.1:86279G>A	uc003bnz.1	+	5		c.1027G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCTGTTACAGTGGTGAAATC	0.398000														8			3		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794439	141794439	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141794439C>T	uc003vwy.3	+	38	4692	c.4638C>T	c.(4636-4638)ctC>ctT	p.L1546L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1546	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)	AGTTCAGCCTCTTCGGCATAT	0.522000														81			5		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102566297	102566297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:102566297C>T	uc001krk.4	+	6	1346	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	PAX2_uc001krm.4_Missense_Mutation_p.R266W|PAX2_uc001krn.4_Missense_Mutation_p.R243W|PAX2_uc001kro.4_Missense_Mutation_p.R243W|PAX2_uc010qps.2_Missense_Mutation_p.R242W|PAX2_uc001krl.4_Missense_Mutation_p.R243W|PAX2_uc001krp.1_Missense_Mutation_p.R239W	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	266					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCTTTGGATCGGGTCTTTGA	0.542000														385			27		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121674425	121674425	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:121674425C>T	uc003vjy.3	+	16	5672	c.5277C>T	c.(5275-5277)atC>atT	p.I1759I	PTPRZ1_uc011knt.2_Silent_p.I899I|PTPRZ1_uc003vjz.3_Silent_p.I892I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1759	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACATAAATATCGTTGCCTGTA	0.393000														52			4		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21154169	21154169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:21154169G>A	uc001bec.3	-	26	4298	c.4042C>T	c.(4042-4044)Cct>Tct	p.P1348S	EIF4G3_uc010odi.2_Missense_Mutation_p.P952S|EIF4G3_uc010odj.2_Missense_Mutation_p.P1347S|EIF4G3_uc009vpz.3_Missense_Mutation_p.P1068S|EIF4G3_uc001bef.3_Missense_Mutation_p.P1384S|EIF4G3_uc001bee.3_Missense_Mutation_p.P1354S	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1348					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)		CTTCCAACAGGAAGTAAAGGT	0.378000														53			6		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402648	124402648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124402648G>A	uc001lgk.1	+	52	7082	c.6976G>A	c.(6976-6978)Gat>Aat	p.D2326N	DMBT1_uc001lgl.1_Missense_Mutation_p.D2316N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1698N|DMBT1_uc021qaf.1_Missense_Mutation_p.D2326N|DMBT1_uc021qag.1_Missense_Mutation_p.D2316N|DMBT1_uc021qah.1_Missense_Mutation_p.D1698N|DMBT1_uc009xzz.1_Missense_Mutation_p.D2325N|DMBT1_uc010qtx.1_Missense_Mutation_p.D1046N|DMBT1_uc009yab.1_Missense_Mutation_p.D1029N|DMBT1_uc009yac.1_Missense_Mutation_p.D620N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2326	ZP.				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)				ATGCGTGAGGGATGACACCTA	0.577000														123			7		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95201837	95201837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:95201837G>A	uc003htb.4	+	19	2696	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	SMARCAD1_uc003htc.4_Missense_Mutation_p.R838Q|SMARCAD1_uc003htd.4_Missense_Mutation_p.R840Q|SMARCAD1_uc010ila.3_Missense_Mutation_p.R703Q|SMARCAD1_uc011cdw.2_Missense_Mutation_p.R408Q	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	838					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAACAGTACCGACACATTAAT	0.353000														140			14		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627372	38627372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38627372G>A	uc021wvo.1	-	14	2649	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	SCN5A_uc021wvk.1_Missense_Mutation_p.S866L|SCN5A_uc021wvl.1_Missense_Mutation_p.S866L|SCN5A_uc021wvm.1_Missense_Mutation_p.S866L|SCN5A_uc021wvn.1_Missense_Mutation_p.S866L|SCN5A_uc021wvp.1_Missense_Mutation_p.S866L|SCN5A_uc021wvq.1_Missense_Mutation_p.S866L|SCN5A_uc021wvr.1_Missense_Mutation_p.S866L|SCN5A_uc021wvs.1_Missense_Mutation_p.S866L|SCN5A_uc021wvt.1_Missense_Mutation_p.S866L|SCN5A_uc021wvu.1_Missense_Mutation_p.S866L|SCN5A_uc021wvv.1_Missense_Mutation_p.S866L|SCN5A_uc021wvj.1_Missense_Mutation_p.S732L|SCN5A_uc021wvi.1_Missense_Mutation_p.S732L|SCN5A_uc021wvw.1_Missense_Mutation_p.S477L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	866					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)	CCTCAGCTCCGAGTAGTTCTT	0.567000														175			22		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334163	102334163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102334163C>T	uc004eju.3	-	15	1435	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E	NXF3_uc010noi.1_Missense_Mutation_p.G305E	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	455	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.G455G(1)|p.G455W(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTGAACACCCCGTTGACAGA	0.587000														191			34		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71127806	71127806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71127806C>T	uc002ezr.3	-	10	1511	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	HYDIN_uc010cfz.2_Missense_Mutation_p.G199R|HYDIN_uc021tkq.1_Missense_Mutation_p.G454R|HYDIN_uc010vmc.2_Missense_Mutation_p.G471R|HYDIN_uc010vmd.2_Missense_Mutation_p.G481R|HYDIN_uc002ezw.4_Missense_Mutation_p.G471R	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	454										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)				ATGCCTTCCCCTTTGATTCGG	0.428000														48			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90193258	90193258	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:90193258C>T	uc010yts.2	+	34		c.4115C>T								Parts of antibodies, mostly variable regions.																		CAGCAGAAACCAGGGAAAGCT	0.527000														207			7		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702367	27702367	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27702367G>A	uc001itu.2	-	0	931	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	271					spermatid development	integral to membrane	hedgehog receptor activity	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCACCTGCCAGGCGTACAGGA	0.622000														58			8		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964509	94964509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94964509G>A	uc001ydj.3	-	2	1022	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	76					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ATGCTCAAGGGGGATAGGAAG	0.532000														84			18		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643906	39643906	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39643906G>A	uc002hwt.3	-	3	783	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	261	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TATCCTCCAGGATCTTGTTGA	0.587000														166			14		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299437	125299437	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:125299437C>T	uc004euk.2	-	0	644	c.471G>A	c.(469-471)ctG>ctA	p.L157L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	157								p.E156K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGAGGGATTCAGCTCGATGG	0.687000														70			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230393	21230393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21230393C>T	uc002red.3	-	25	9475	c.9347G>A	c.(9346-9348)gGa>gAa	p.G3116E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3116					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G3116*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCATTTATTCCTACATGGGC	0.383000														91			4		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756350	10756350	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10756350C>T	uc003wtk.1	-	2	1065	c.1038G>A	c.(1036-1038)agG>agA	p.R346R		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	346						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCTTGTCGTCCCTGGAGTCCC	0.557000														120			8		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617180	77617180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77617180C>T	uc003yau.2	+	1	1244	c.857C>T	c.(856-858)tCt>tTt	p.S286F	ZFHX4_uc003yat.1_Missense_Mutation_p.S286F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S286F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S286S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAAGTTGTCTTTTGGTTAT	0.428000										HNSCC(33;0.089)				57			7		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954511	119954511	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:119954511A>G	uc001txe.3	+	8	1433	c.968_splice	c.e8+1	p.S323_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	323										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAAAGCACCCAGGTATGTGCT	0.443000														28			7		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128487751	128487752	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128487751_128487752GG>AA	uc003vnz.4	+	25	4498	c.4289_splice	c.e25-1	p.G1430_splice	FLNC_uc003voa.4_Splice_Site_p.G1430_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1430					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTCCTCACAGGGAGCCCGTTCC	0.644000														132			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975996	20975996	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20975996G>A	uc010vbe.2	-	52	9210	c.9210C>T	c.(9208-9210)atC>atT	p.I3070I	DNAH3_uc010vbd.2_Silent_p.I505I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3070	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGATACAATGATGCCATTGT	0.498000														59			7		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339456	72339456	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:72339456G>A	uc010lal.1	-	0		c.200C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GCTCAGGGGCGAGCACCTTCC	0.602000														39			3		0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232321448	232321448	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:232321448G>A	uc002vru.3	-	10	1740	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	533	RRM 3.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TAGCGTCTTCGAATGAAGCAA	0.438000														66			10		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449756	61449756	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61449756C>T	uc002ljl.3	+	1	246	c.150C>T	c.(148-150)tcC>tcT	p.S50S	SERPINB7_uc002ljm.3_Silent_p.S50S|SERPINB7_uc010xet.2_Silent_p.S50S|SERPINB7_uc010dqg.3_Silent_p.S50S	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	50					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)				AAGATGACTCCCTCTCTCAGA	0.478000														91			10		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90167455	90167455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90167455C>T	uc002boe.3	+	19	3914	c.3914C>T	c.(3913-3915)cCt>cTt	p.P1305L	C15orf42_uc021sug.1_Missense_Mutation_p.P1304L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1305	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTTCCCCACCTGTTACGCCA	0.448000														196			15		0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232487	50232487	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:50232487G>A	uc001rvh.3	-	1	588	c.546C>T	c.(544-546)ttC>ttT	p.F182F	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.	182	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GATGGGCCAGGAACTCCCATA	0.522000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			8		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544307	82544307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82544307G>A	uc003uhx.2	-	6	13284	c.12995C>T	c.(12994-12996)tCa>tTa	p.S4332L	PCLO_uc003uhv.2_Missense_Mutation_p.S4332L|PCLO_uc010lec.3_Missense_Mutation_p.S1297L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4263					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						GGCAGAGGATGATGCATGACT	0.423000														39			4		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831331	89831331	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:89831331G>A	uc002fou.1	-	27	2787	c.2745C>T	c.(2743-2745)acC>acT	p.T915T	FANCA_uc010vpn.1_Silent_p.T915T|FANCA_uc010vpo.2_Silent_p.T44T	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	915					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTCGGAAGGTTCTGTGTG	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					86			9		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114327001	114327001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:114327001C>T	uc003ynu.3	-	1	359	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CSMD3_uc003ynt.3_Missense_Mutation_p.G27E|CSMD3_uc011lhx.2_Missense_Mutation_p.G67E|CSMD3_uc010mcx.1_Missense_Mutation_p.G67E|CSMD3_uc003ynx.4_Missense_Mutation_p.G67E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	67	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTAAAGTTCCACCACATGT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				114			8		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792875	143792875	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143792875G>A	uc011kty.2	+	0	675	c.675G>A	c.(673-675)ttG>ttA	p.L225L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGGCCATCTTGAGGATCCAGT	0.587000														217			19		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79936185	79936185	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:79936185A>T	uc004akr.3	+	42	5776	c.5516A>T	c.(5515-5517)gAc>gTc	p.D1839V	VPS13A_uc004akp.4_Missense_Mutation_p.D1839V|VPS13A_uc004akq.4_Missense_Mutation_p.D1839V|VPS13A_uc004aks.3_Missense_Mutation_p.D1800V|VPS13A_uc004akt.3_Missense_Mutation_p.D179V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1839					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATTCAAAAGACCAATTAAAC	0.294000														20			5		0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185404970	185404970	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:185404970G>A	uc003fpo.3	-	6	766	c.687C>T	c.(685-687)atC>atT	p.I229I	IGF2BP2_uc010hyi.3_Silent_p.I172I|IGF2BP2_uc010hyj.3_Silent_p.I166I|IGF2BP2_uc010hyk.3_Silent_p.I93I|IGF2BP2_uc010hyl.3_Silent_p.I166I|IGF2BP2_uc003fpp.3_Silent_p.I229I|IGF2BP2_uc003fpq.3_Silent_p.I234I	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	229	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CTTTTCTATGGATATCTACCC	0.493000														58			5		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915400	119915400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:119915400G>A	uc003vjj.1	+	0	1679	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	238					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCTGCGTCATGATCTTCACAG	0.542000														63			8		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62192271	62192271	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:62192271G>A	uc002yfm.2	-	15	8050	c.7158C>T	c.(7156-7158)ctC>ctT	p.L2386L	PRIC285_uc002yfl.1_Silent_p.L1817L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2386					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGTGGTCTCCGAGAAGAACCA	0.627000														117			14		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081276	54081276	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:54081276G>A	uc021vhn.1	-	0	618	c.618C>T	c.(616-618)ctC>ctT	p.L206L	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.L206L	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	206						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CGACCACATAGAGAGACAAAA	0.507000														90			11		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137666877	137666877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:137666877G>A	uc003lcs.1	-	1	427	c.227C>T	c.(226-228)tCg>tTg	p.S76L	CDC25C_uc003lcp.1_5'UTR|CDC25C_uc003lcq.1_5'UTR|CDC25C_uc003lcr.1_5'UTR|CDC25C_uc011cyp.1_Missense_Mutation_p.S15L|CDC25C_uc010jet.1_5'UTR|CDC25C_uc003lct.1_5'UTR|CDC25C_uc003lcu.1_5'UTR	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	0					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATGGTCTTCGAATTCTCACC	0.443000														47			4		0	0	1	0	0
HEBP1	50865	broad.mit.edu	37	12	13128335	13128335	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:13128335G>A	uc001rbd.3	-	3	672	c.477C>T	c.(475-477)gcC>gcT	p.A159A		NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN	Homo sapiens heme binding protein 1 (HEBP1), mRNA.	159					circadian rhythm	extracellular region		p.A159V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CCCGGTAGGTGGCTGTGCCCT	0.592000														81			9		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62518589	62518589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:62518589G>A	uc003dll.2	-	12	2608	c.2248C>T	c.(2248-2250)Cac>Tac	p.H750Y	CADPS_uc003dlk.1_Missense_Mutation_p.H254Y|CADPS_uc003dlm.2_Missense_Mutation_p.H750Y|CADPS_uc003dln.2_Missense_Mutation_p.H733Y|CADPS_uc021wzv.1_Missense_Mutation_p.H750Y	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	750					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGCTGTAGTGAAGAAGGGTG	0.532000														52			4		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561341	9561341	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:9561341C>T	uc002wnl.2	-	4	986	c.441G>A	c.(439-441)agG>agA	p.R147R	PAK7_uc002wnk.2_Silent_p.R147R|PAK7_uc002wnj.2_Silent_p.R147R|PAK7_uc010gby.1_Silent_p.R147R	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	147	Linker.						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)			GACTCTTCTCCCTGTACTTTT	0.517000														146			10		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141337075	141337076	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:141337075_141337076CC>TT	uc003llx.3	-	0	1552_1553	c.341_342GG>AA	c.(340-342)ggg>gAA	p.G114E		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	114	Cadherin 1.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCAAATCCCCTGTGGCAAG	0.574000														144			7		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920507	4920507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4920507G>A	uc001qng.3	+	0	2166	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	KCNA6_uc021qtr.1_Missense_Mutation_p.G434R	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	434						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATGACTGTGGGGGGAAAGAT	0.577000										HNSCC(72;0.22)				124			19		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35606211	35606211	+	Missense_Mutation	SNP	G	A	A	rs144314548		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:35606211G>A	uc003xjr.2	+	11	2261	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	UNC5D_uc003xjs.2_Missense_Mutation_p.E640K|UNC5D_uc003xju.2_Missense_Mutation_p.E221K	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	645	ZU5.				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)		GGGCAAATGGGAGGTGAGACC	0.438000														68			8		0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117056931	117056931	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:117056931G>A	uc001pqg.2	+	8	995	c.954G>A	c.(952-954)gaG>gaA	p.E318E	SIDT2_uc010rxe.1_Silent_p.E318E|SIDT2_uc001pqh.1_Silent_p.E318E|SIDT2_uc001pqi.1_Silent_p.E318E	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	318						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTGCTGGGAGAACTGGAGGT	0.572000														72			8		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926337	22926337	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:22926337G>A	uc002dli.3	+	1	630	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	186						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCACTCAAGAGGCTCCTCGAC	0.557000														108			11		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239094	3239094	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3239094C>T	uc004crg.4	-	4	4789	c.4632G>A	c.(4630-4632)gtG>gtA	p.V1544V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1544						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)				CTTCATTGTTCACTGGGGTTG	0.418000														75			18		0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32352053	32352053	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:32352053T>C	uc002roc.3	+	7	1356	c.1135T>C	c.(1135-1137)Tta>Cta	p.L379L	SPAST_uc002rod.3_Silent_p.L347L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	379	Sufficient for microtubule severing.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGAGGGCTGTTACTCTTTGG	0.368000														63			4		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856628	62856628	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:62856628C>T	uc002jey.2	-	10	4252	c.3636G>A	c.(3634-3636)agG>agA	p.R1212R	LRRC37A3_uc010wqg.1_Silent_p.R330R|LRRC37A3_uc002jex.1_Silent_p.R189R|LRRC37A3_uc010wqf.1_Silent_p.R250R|LRRC37A3_uc010dek.1_Silent_p.R218R|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1212						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTTCAGCTCCCTTGGGGCTG	0.562000														91			15		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691668	26691668	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26691668G>A	uc001bmg.1	-	3	487	c.369C>T	c.(367-369)ttC>ttT	p.F123F	ZNF683_uc001bmh.1_Silent_p.F123F|ZNF683_uc009vsj.1_Silent_p.F123F	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACTTGACTGTGAATTTCTTGT	0.567000														23			3		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48750426	48750426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48750426C>T	uc002isl.3	+	17	2416	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	779	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GACCCACTGTCCGCGGTGGAC	0.607000														116			16		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433278	104433278	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:104433278G>A	uc004bbp.2	-	2	2017	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	GRIN3A_uc004bbq.1_Silent_p.P472P	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	472					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.P472P(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTTTCCCATGGGGTCATGTT	0.502000														121			24		0	0	1	0	0
TH1L	51497	broad.mit.edu	37	20	57566462	57566462	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57566462C>T	uc002yag.3	+	8	1104	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	359					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			ACATCCACATCTTGGCGTACG	0.498000														106			14		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271053	1271053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1271053G>A	uc001lta.3	+	30	13002	c.12943G>A	c.(12943-12945)Gcc>Acc	p.A4315T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4315	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACAAGCACAGCCACCAAATC	0.622000														255			35		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131010938	131010938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131010938C>T	uc022bob.1	+	18	2069	c.1982C>T	c.(1981-1983)aCc>aTc	p.T661I	DNM1_uc022bny.1_Missense_Mutation_p.T661I|DNM1_uc022bnz.1_3'UTR|DNM1_uc022boa.1_3'UTR|DNM1_uc004bub.1_Missense_Mutation_p.T34I|DNM1_uc004buc.1_Missense_Mutation_p.T128I	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	661	GED.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CAAGTGGAGACCATCCGGAAT	0.537000														202			43		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51387802	51387802	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51387802G>A	uc011bds.2	+	39	4109	c.4086G>A	c.(4084-4086)agG>agA	p.R1362R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1362	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTATGGCAGGAAGTTTCCTT	0.428000														80			12		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895665	90895665	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:90895665C>T	uc003ula.3	+	0	1883	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	490					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding	p.F490F(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGTGGCTTCGTGCTGGCGC	0.612000														281			22		0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37331556	37331557	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37331556_37331557GG>AA	uc002hrm.2	-	13	1894_1895	c.1686_1687CC>TT	c.(1684-1689)aaccgg>aaTTgg	p.R563W	CACNB1_uc002hrl.1_Missense_Mutation_p.R335W	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	563					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCCCGGTTCCGGTTGTCGGTCA	0.658000											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		271			17		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38448420	38448420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38448420G>A	uc003jlc.2	+	18	2852	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E828K|EGFLAM_uc003jle.2_Missense_Mutation_p.E594K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E194K|EGFLAM_uc003jlg.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	836	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGAAGCCATTGAGATCCCGCA	0.483000														212			20		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210856645	210856645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:210856645C>T	uc001hib.2	-	10	3118	c.2948G>A	c.(2947-2949)aGa>aAa	p.R983K	KCNH1_uc001hic.2_Missense_Mutation_p.R956K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	983					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAAAATGTCTCTCTCTGATTC	0.468000														154			7		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785598	12785599	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12785598_12785599CC>TT	uc009vnn.1	+	3	921_922	c.688_689CC>TT	c.(688-690)cca>TTa	p.P230L	AADACL3_uc001aug.1_Missense_Mutation_p.P160L	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	230							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTTGGGCCCAGAAAACATC	0.480000														86			6		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662469	49662469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49662469C>T	uc003cxe.4	+	1	400	c.286C>T	c.(286-288)Ccg>Tcg	p.P96S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	96					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTCCCCAACTCCGAAGCAGGC	0.582000														61			8		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70858292	70858292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:70858292C>T	uc003kbp.1	+	37	7951	c.7688C>T	c.(7687-7689)cCa>cTa	p.P2563L	BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2563					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GATCTGCTTCCATCTCCAAGT	0.363000														72			9		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030722	56030722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:56030722G>A	uc010spq.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCCTTCTGGGATTCTCTGAC	0.527000														142			13		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6498690	6498690	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:6498690T>C	uc001iji.1	-	13	1776	c.1692A>G	c.(1690-1692)ttA>ttG	p.L564L	PRKCQ_uc001ijj.2_Silent_p.L531L|PRKCQ_uc009xim.2_Silent_p.L531L|PRKCQ_uc009xin.2_Silent_p.L495L|PRKCQ_uc010qax.2_Silent_p.L406L	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	531	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGCATCTCCTAACATGTTCT	0.493000														63			4		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817754	23817754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23817754C>T	uc001wjl.3	-	3	890	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	SLC22A17_uc010akk.3_Splice_Site|SLC22A17_uc001wjm.3_Missense_Mutation_p.R218Q|SLC22A17_uc001wjn.3_Splice_Site	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	218					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGTGATCATTCGCTGTAGGAA	0.572000														151			26		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522042	7522042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7522042C>T	uc010sge.2	-	14	4006	c.3980G>A	c.(3979-3981)gGa>gAa	p.G1327E	CD163L1_uc001qsy.3_Missense_Mutation_p.G1317E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1317	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.H1326N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACTCATTTCCTTTGCACCG	0.557000														133			8		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500585	90500585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:90500585G>A	uc004app.4	+	3	1218	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	FAM75E1_uc004apo.1_Missense_Mutation_p.G207R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	395						integral to membrane											GACATCACTGGGGAAGGAGTG	0.567000														117			8		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767571	77767571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77767571C>T	uc003yau.2	+	9	8801	c.8414C>T	c.(8413-8415)tCg>tTg	p.S2805L	ZFHX4_uc003yaw.1_Missense_Mutation_p.S2760L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2760						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)			GAGACTTCATCGATTAATACG	0.453000										HNSCC(33;0.089)				30			5		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895590	42895590	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:42895590A>T	uc003gwt.3	+	0	308	c.307A>T	c.(307-309)Aat>Tat	p.N103Y		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	103					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAAGCAAAAATGGCACAGT	0.428000														87			5		0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2833938	2833939	+	Missense_Mutation	DNP	GG	AC	AC	rs143196754	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2833938_2833939GG>AC	uc003mub.3	-	6	1087_1088	c.1043_1044CC>GT	c.(1042-1044)ccc>cGT	p.P348R		NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	348					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		AATTTTCTTCGGGCATCAACAT	0.446000														37			3		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28412933	28412933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28412933G>A	uc001zbj.3	-	67	10560	c.10454C>T	c.(10453-10455)aCt>aTt	p.T3485I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3485					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCCGACGGAGTCACTGCAGA	0.527000														74			14		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97043781	97043781	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:97043781G>A	uc021rcc.1	+	1	156	c.78G>A	c.(76-78)aaG>aaA	p.K26K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	26										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						CTAAAGAAAAGGACCGAGGAG	0.338000														89			6		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221609	47221609	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:47221609C>T	uc010fbb.3	+	6	1325	c.957C>T	c.(955-957)ttC>ttT	p.F319F	TTC7A_uc002rvm.3_Silent_p.F285F|TTC7A_uc002rvn.1_Silent_p.F200F|TTC7A_uc002rvo.3_Silent_p.F319F|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Silent_p.F200F|TTC7A_uc002rvq.3_Silent_p.F59F|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	319							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGTTCTTTCGCCACTCAGG	0.597000														125			15		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078573	133078573	+	Missense_Mutation	SNP	G	A	A	rs149351884		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:133078573G>A	uc003qdt.3	-	1	337	c.326C>T	c.(325-327)cCg>cTg	p.P109L	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P109L|VNN2_uc003qdv.3_Missense_Mutation_p.P56L	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	109	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCTTGACACGGAATCCAGTT	0.418000														50			10		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415820	130415820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:130415820C>T	uc004ewe.4	-	7	1628	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	IGSF1_uc004ewd.3_Missense_Mutation_p.E449K|IGSF1_uc022cdv.1_Missense_Mutation_p.E440K|IGSF1_uc004ewf.2_Missense_Mutation_p.E429K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	449	Ig-like C2-type 5.				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						AGAGAAAATTCCAGTACTGGA	0.473000														24			4		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56530724	56530724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56530724G>A	uc002qmj.3	+	4	582	c.582G>A	c.(580-582)atG>atA	p.M194I	NLRP5_uc002qmi.3_Intron	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	194						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACAAGCTATGGAACAAGAAG	0.408000														51			9		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886525	52886525	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52886525G>A	uc001sam.3	-	0	657	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	150	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGATTTGCAGGTTGAGGGGA	0.602000														167			15		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929122	31929122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31929122C>T	uc003nyn.1	+	7	1137	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.P92S|SKIV2L_uc011dov.1_Missense_Mutation_p.P57S	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	250						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGCAGTGCTCCCCTGGCCCG	0.597000														136			19		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372919	24372919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24372919G>A	uc002dmf.3	+	3	1885	c.683G>A	c.(682-684)aGg>aAg	p.R228K		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	228					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)		CCACCCTACAGGTATCGATTC	0.542000														51			4		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076714	62076714	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:62076714T>A	uc002yey.1	-	2	568	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	KCNQ2_uc002yez.1_Missense_Mutation_p.I131F|KCNQ2_uc002yfa.1_Missense_Mutation_p.I131F|KCNQ2_uc002yfb.1_Missense_Mutation_p.I131F|KCNQ2_uc011aax.1_Missense_Mutation_p.I131F|KCNQ2_uc002yfc.1_Missense_Mutation_p.I131F	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	131					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATAGTCACGATTTCCTGCAGG	0.657000														77			7		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953594	161953594	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:161953594G>A	uc010pkq.2	-	7	2551	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	OLFML2B_uc001gbt.3_Silent_p.I191I|OLFML2B_uc001gbu.3_Silent_p.I708I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	708	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCCTGGGGACGATCTGTGTGT	0.547000														348			39		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971130	28971130	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28971130G>A	uc002kwr.2	+	6	909	c.774G>A	c.(772-774)aaG>aaA	p.K258K	DSG4_uc002kwq.2_Silent_p.K258K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	258	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTAGAATCAAGGTTTTAGACG	0.393000														48			3		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191740	18191740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18191740C>T	uc002nhx.1	-	4	482	c.431G>A	c.(430-432)gGg>gAg	p.G144E	IL12RB1_uc002nhw.1_Missense_Mutation_p.G104E|IL12RB1_uc010xqb.1_Missense_Mutation_p.G104E|IL12RB1_uc002nhy.3_Missense_Mutation_p.G104E	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	104	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACAGACACCCCAGCCTGGTC	0.622000														125			11		0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23808758	23808758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:23808758G>A	uc001uom.2	+	2	359	c.204G>A	c.(202-204)atG>atA	p.M68I	SGCG_uc009zzv.2_Missense_Mutation_p.M68I|SGCG_uc009zzw.2_Missense_Mutation_p.M68I	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	68					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGGCAGGAATGGGCCACTTGT	0.353000														71			6		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25249938	25249938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:25249938G>A	uc001rgh.3	+	13	1795	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	LRMP_uc010sja.2_Missense_Mutation_p.R234Q|LRMP_uc010sjc.2_Missense_Mutation_p.R234Q|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.R181Q|LRMP_uc010sjd.2_Missense_Mutation_p.R181Q	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	290					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGTGCAGCACGAGTGGCCAGT	0.413000														65			10		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132670237	132670237	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:132670237T>G	uc010nrn.2	-	8	1924	c.1727A>C	c.(1726-1728)cAc>cCc	p.H576P	GPC3_uc004exe.2_Missense_Mutation_p.H553P|GPC3_uc011mvh.2_Missense_Mutation_p.H537P|GPC3_uc010nro.2_Missense_Mutation_p.H499P	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	553						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCCGAGGTTGTGAAAGGTGCT	0.537000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					32			7		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756345	94756345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94756345G>A	uc001yct.3	-	1	1052	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	SERPINA10_uc001ycu.4_Missense_Mutation_p.R196C	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	196			R -> H (in dbSNP:rs2232701).		regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAGGCATTGCGAAAATTCATA	0.398000														107			12		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166172209	166172209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166172209C>T	uc002udc.3	+	10	1902	c.1612C>T	c.(1612-1614)Cgt>Tgt	p.R538C	SCN2A_uc002udd.3_Missense_Mutation_p.R538C|SCN2A_uc002ude.3_Missense_Mutation_p.R538C	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	538					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R538C(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAAAGGTTTCCGTTTTTCCTT	0.338000														65			6		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752050	36752050	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:36752050C>T	uc001cae.4	+	3	443	c.219C>T	c.(217-219)ttC>ttT	p.F73F	THRAP3_uc001caf.4_Silent_p.F73F|THRAP3_uc001cag.1_Silent_p.F73F	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	73	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCGGGATTTCCGAGGTCACA	0.453000			T	USP6	aneurysmal bone cysts									99			16		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:70079874G>A	uc003heh.3	-	0	576	c.567C>T	c.(565-567)ttC>ttT	p.F189F	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	189					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAAGGAGGGAAAATCAGTC	0.403000														50			5		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61919967	61919967	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:61919967C>T	uc001xfn.3	+	6	1161	c.856C>T	c.(856-858)Cga>Tga	p.R286*	PRKCH_uc010tsa.2_Nonsense_Mutation_p.R125*	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	286					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGTGCATATTCGATGTCAAGC	0.448000														90			4		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794359	15794359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15794359G>A	uc002nbl.3	+	6	823	c.704G>A	c.(703-705)aGa>aAa	p.R235K		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTAGAGAAAAGAAGCCAGCAT	0.542000														92			8		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687621	27687621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27687621C>T	uc001itu.2	-	3	2024	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	636					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATGTAGGAATCGTCACTTGCC	0.353000														90			6		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53240001	53240001	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53240001A>T	uc001sbc.1	-	3	800	c.736T>A	c.(736-738)Ttg>Atg	p.L246M		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	246	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AGATGCTTCAAGAAGTAGAGG	0.547000														64			4		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011769	34011769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34011769G>A	uc001bxm.1	-	56	9145	c.8968C>T	c.(8968-8970)Cgt>Tgt	p.R2990C	CSMD2_uc001bxn.1_Missense_Mutation_p.R2846C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2963	Sushi 22.					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)				TCCCCCAAACGGATGCCATGA	0.567000														75			8		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90072360	90072360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:90072360C>T	uc003kju.3	+	60	12590	c.12494C>T	c.(12493-12495)cCc>cTc	p.P4165L	GPR98_uc003kjt.3_Missense_Mutation_p.P1871L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4165					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.E4164D(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)		ATTGGGGAACCCTCAGCAAAA	0.393000														48			4		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132414	59132414	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59132414T>C	uc010rks.2	+	0	483	c.483T>C	c.(481-483)atT>atC	p.I161I		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TATTCCAAATTGGTGCTTTGC	0.463000														82			7		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701646	179701646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179701646C>T	uc002une.2	-	22	4418	c.4300G>A	c.(4300-4302)Gga>Aga	p.G1434R	CCDC141_uc002unf.1_Missense_Mutation_p.G913R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	859							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTGGAAATCCTGTTACTTCA	0.438000														31			4		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926783	130926783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:130926783C>T	uc001uil.2	-	7	1279	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	RIMBP2_uc001uim.3_Missense_Mutation_p.E263K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	355	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)		TTGAGCTTCTCGATGAGGGCT	0.612000														91			8		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38305122	38305122	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:38305122C>T	uc003tge.1	-	4	962	c.585G>A	c.(583-585)acG>acA	p.T195T	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	703	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCCCAGAATCGTGTTGCTCT	0.418000														60			14		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059176	248059176	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248059176C>T	uc010pzb.2	+	0	288	c.288C>T	c.(286-288)ggC>ggT	p.G96G	OR2W3_uc001idp.1_Silent_p.G96G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTACATGGGCTGTGCCATCC	0.572000														104			6		0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19918599	19918599	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19918599G>A	uc021wlj.1	-	1	159	c.126C>T	c.(124-126)ctC>ctT	p.L42L	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.L41L|TXNRD2_uc010grv.1_Silent_p.L42L|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Silent_p.L10L	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	42					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CGACCACCAGGAGATCATAGT	0.537000														157			17		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613330	121613330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121613330C>T	uc003eep.2	+	0	160	c.7C>T	c.(7-9)Cct>Tct	p.P3S	SLC15A2_uc011bjn.1_Missense_Mutation_p.P3S	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	3					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.P3A(2)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AGCCATGAATCCTTTCCAGAA	0.493000														94			9		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211438075	211438075	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211438075C>T	uc010fur.3	+	2	280	c.198C>T	c.(196-198)tcC>tcT	p.S66S	CPS1_uc002vee.4_Silent_p.S60S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGGTTACTCCTTTGGCCATC	0.418000														119			12		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87641241	87641241	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:87641241G>A	uc003ydx.3	-	11	1434	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	CNGB3_uc010maj.3_Silent_p.T324T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	462					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						TGTAGGCAATGGTGTCATCCA	0.453000														185			17		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482780	20482780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20482780C>T	uc010tky.2	-	0	573	c.573G>A	c.(571-573)atG>atA	p.M191I		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATAGGTGTCCATGCAGGCAA	0.483000														82			4		0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23724285	23724285	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23724285C>T	uc021oig.1	-	6	742	c.607_splice	c.e6+1	p.D203_splice	TCEA3_uc021oih.1_Splice_Site_p.D182_splice	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	203	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCTCTCTCACCGTCCGCCTTC	0.572000														74			4		0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46956287	46956287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:46956287C>T	uc002eel.3	+	8	1265	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	GPT2_uc002eem.3_Missense_Mutation_p.P291S|GPT2_uc002een.3_5'Flank	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	391					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.P391L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGTCGTGAACCCCCCGGTGGC	0.637000														147			7		0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69805411	69805411	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:69805411C>T	uc001xlb.2	+	9	1338	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	GALNTL1_uc001xla.2_Silent_p.I337I|GALNTL1_uc010aqu.2_Silent_p.I337I	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	337	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GTCTGGAGATCGTCCCCTGCA	0.582000														146			5		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870692	50870692	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50870692C>T	uc001jhz.2	+	14	1993	c.1840_splice	c.e14-1	p.A614_splice	CHAT_uc001jhv.1_Splice_Site_p.A496_splice|CHAT_uc001jhx.1_Splice_Site_p.A496_splice|CHAT_uc001jhy.1_Splice_Site_p.A496_splice|CHAT_uc001jia.2_Splice_Site_p.A532_splice|CHAT_uc010qgs.1_Splice_Site_p.A496_splice	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	614					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACTACACAGGCCATAACAGGG	0.572000														120			13		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27319169	27319169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27319169G>A	uc010lur.3	-	6	2176	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	CHRNA2_uc011lal.2_Missense_Mutation_p.P508S|CHRNA2_uc010lus.3_Missense_Mutation_p.P325S	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	523						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCTAGGAACGGAGGCAGAAAG	0.572000														109			12		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52145262	52145262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52145262C>T	uc003jou.3	+	1	539	c.125C>T	c.(124-126)cCg>cTg	p.P42L	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	42					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCAGCGGCCCGGTGGAAGAC	0.353000														45			3		0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113633433	113633433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113633433C>T	uc001tuu.3	-	2	1163	c.991G>A	c.(991-993)Gac>Aac	p.D331N		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	Homo sapiens IQ motif containing D (IQCD), mRNA.	0										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ttctccttgtcctttgctttg	0.592000														100			10		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444719	75444719	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:75444719G>A	uc001sxg.1	-	2	1610	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	KCNC2_uc009zry.3_Silent_p.L356L|KCNC2_uc001sxe.3_Silent_p.L356L|KCNC2_uc001sxf.3_Silent_p.L356L|KCNC2_uc010stw.1_Silent_p.L356L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	356					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAAATTCTCAGGATCCTCACA	0.458000														48			4		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102690	81102690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81102690C>T	uc001szf.2	+	2	771	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	227					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GACAGTATTTCCTCGGAGGAA	0.527000														65			7		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445206	49445206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:49445206G>A	uc001rta.4	-	9	2260	c.2260C>T	c.(2260-2262)Ccc>Tcc	p.P754S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	754	Pro-rich.			Missing (in Ref. 1; AAC51734).	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						TCAGGCCGGGGGGACAGGTGC	0.692000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				39			3		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917712	26917712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:26917712C>T	uc001wqa.3	-	5	1397	c.611G>A	c.(610-612)gGa>gAa	p.G204E	NOVA1_uc001wpy.3_Missense_Mutation_p.G326E|NOVA1_uc001wpz.3_Missense_Mutation_p.G302E	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	329	KH 2.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			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)		GAGATTATATCCATAGCTGGC	0.522000														33			4		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214566	3214566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3214566C>T	uc002fvi.2	+	0	1028	c.962C>T	c.(961-963)tCc>tTc	p.S321F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		GTGCAGAGTTCCCTATGCTGC	0.572000														86			6		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078591	22078591	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:22078591T>C	uc010iuc.2	-	1	653	c.195A>G	c.(193-195)gaA>gaG	p.E65E	CDH12_uc011cno.1_Silent_p.E65E|CDH12_uc003jgk.2_Silent_p.E65E	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	65	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACGTATTCTTCCAGCACAA	0.448000										HNSCC(59;0.17)				62			4		0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148744081	148744081	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:148744081G>A	uc003ilf.3	+	2	285	c.285G>A	c.(283-285)aaG>aaA	p.K95K	ARHGAP10_uc003ile.1_Silent_p.K95K	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	95	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		ATTTTTTGAAGAATCTGGAGG	0.363000														44			4		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807924	8807924	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8807924C>T	uc002mkl.2	-	0	1249	c.1128G>A	c.(1126-1128)agG>agA	p.R376R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	376						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGGAGAAATTCCTGGTGGGCT	0.667000														40			3		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150482158	150482158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:150482158C>T	uc001euv.3	+	2	342	c.143C>T	c.(142-144)tCc>tTc	p.S48F	ECM1_uc010pcf.2_5'UTR|ECM1_uc010pce.2_5'UTR|ECM1_uc001eus.3_Missense_Mutation_p.S48F|ECM1_uc001eut.3_Missense_Mutation_p.S48F|ECM1_uc009wlu.3_5'UTR	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	48					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTCCCCCCTCCCCACCCCTA	0.597000														221			24		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576270	12576270	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:12576270G>A	uc002mtv.4	-	3	627	c.466C>T	c.(466-468)Cga>Tga	p.R156*	ZNF709_uc002mtw.4_Nonsense_Mutation_p.R124*|ZNF709_uc002mtx.4_Nonsense_Mutation_p.R156*	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTCGAAATGAACTT	0.353000														94			10		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775789	77775789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77775789G>A	uc003yau.2	+	10	10226	c.9839G>A	c.(9838-9840)gGa>gAa	p.G3280E		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G3264V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTCCCTGGAACAGTGCAG	0.527000										HNSCC(33;0.089)				73			7		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117647417	117647417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117647417C>T	uc003pxp.1	-	32	5726	c.5527G>A	c.(5527-5529)Gga>Aga	p.G1843R	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1843	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCACTGATTCCACTATATTCA	0.353000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									92			14		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45726195	45726195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:45726195C>T	uc003tne.4	+	13	2395	c.2377C>T	c.(2377-2379)Ctc>Ttc	p.L793F		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	793					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGCCATCCTGCTCTTCTCCTG	0.627000														73			12		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279739	32279739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:32279739G>A	uc001bts.1	-	1	1254	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	SPOCD1_uc001btu.3_Missense_Mutation_p.S399F|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	399					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)		ATCCAGGGAGGAGCTGAGGCC	0.632000														23			5		0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157103991	157103991	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157103991T>C	uc001fqr.2	-	3	602	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	ETV3_uc001fqt.3_Missense_Mutation_p.K105E	NM_001145312	NP_001138784	P41162	ETV3_HUMAN	Homo sapiens ets variant 3 (ETV3), transcript variant 1, mRNA.	105							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CCTTTTGTTTTATGAAGGATC	0.368000														34			5		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329397	69329397	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:69329397C>T	uc002ars.2	+	7	1259	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L360L|NOX5_uc002arp.2_Silent_p.L388L|NOX5_uc010bid.2_Silent_p.L371L|NOX5_uc010bie.2_Silent_p.L206L|NOX5_uc002arr.2_Silent_p.L378L|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	406	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTCCTACCTCCTCGTGTGGC	0.572000														247			22		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99436796	99436796	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99436796G>A	uc003ury.1	+	3	321	c.218_splice	c.e3+1	p.G73_splice	CYP3A43_uc003urx.1_Splice_Site_p.G73_splice|CYP3A43_uc003urz.1_Splice_Site_p.G73_splice|CYP3A43_uc003usa.1_Splice_Site|CYP3A43_uc010lgi.1_Splice_Site_p.A114_splice|CYP3A43_uc003usb.1_Splice_Site	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	73			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAATGTGGGGGTGAGTATTCT	0.368000														113			6		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184587497	184587497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:184587497G>A	uc003ivx.3	+	2	494	c.292G>A	c.(292-294)Gtt>Att	p.V98I	TRAPPC11_uc003ivw.3_Missense_Mutation_p.V98I|TRAPPC11_uc010isc.3_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	98																	AGCCCTGGTGGTTGTGTTCTA	0.463000														105			7		0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37634983	37634983	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:37634983T>C	uc002xjh.3	+	11	1236	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	DHX35_uc010zwa.2_Silent_p.C247C|DHX35_uc010zwc.2_Silent_p.C371C|DHX35_uc010zwb.2_Silent_p.C247C	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	402	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CGGGAAAATGTTATCGCCTTT	0.488000														94			13		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186064	53186064	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53186064G>A	uc001say.3	-	4	1213	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	383	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGCTTCTCTGAGCGATATCC	0.537000														37			6		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89939461	89939461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:89939461C>T	uc010lep.3	+	22	2986	c.2735C>T	c.(2734-2736)gCt>gTt	p.A912V	C7orf63_uc011khj.2_Missense_Mutation_p.A894V|C7orf63_uc011khk.2_Missense_Mutation_p.A428V	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	912							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACGGATATTGCTCTTAAAAAA	0.433000														90			6		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131671776	131671776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131671776C>T	uc021qav.1	-	7	780	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	EBF3_uc001lki.2_Missense_Mutation_p.G241R	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	241					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCCCGCCTCCCGTGTTTGGAA	0.507000														69			6		0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47317850	47317850	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47317850G>A	uc002ldw.4	-	6	1270	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	291					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CAATACCCATGATAGAGGGAT	0.388000														94			5		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16237594	16237594	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16237594A>G	uc001axk.1	+	5	1247	c.1043_splice	c.e5-2	p.D348_splice	SPEN_uc010obp.1_Splice_Site_p.D307_splice	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	348	RRM 2.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGGGAATTTAGATACAAGCC	0.303000														25			4		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92408619	92408619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:92408619G>A	uc010tif.2	+	4	1591	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	409						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGTGCTAATGAATTAGCTGC	0.373000														64			6		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897586	104897586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:104897586C>T	uc001pim.4	-	7	1099	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CASP1_uc001pig.3_Missense_Mutation_p.E274K|CASP1_uc021qpq.1_Missense_Mutation_p.E346K|CASP1_uc021qpr.1_Missense_Mutation_p.E226K|CASP1_uc021qps.1_Missense_Mutation_p.E51K|CASP1_uc021qpp.1_Missense_Mutation_p.E367K|CASP1_uc021qpt.1_Missense_Mutation_p.E274K|CASP1_uc010rve.2_Missense_Mutation_p.E367K|CASP1_uc010rvf.2_Missense_Mutation_p.E274K|CASP1_uc010rvg.2_Missense_Mutation_p.E346K|CASP1_uc010rvh.2_Missense_Mutation_p.E226K|CASP1_uc010rvi.2_Missense_Mutation_p.E51K|CASP1_uc009yxi.3_Missense_Mutation_p.E346K|CASP1_uc021qpu.1_Missense_Mutation_p.E274K|CASP1_uc021qpv.1_Missense_Mutation_p.E346K|CASP1_uc021qpw.1_Missense_Mutation_p.E226K|CASP1_uc021qpx.1_Missense_Mutation_p.E51K|CASP1_uc010rvj.2_Missense_Mutation_p.E367K|CASP1_uc009yxj.3_Missense_Mutation_p.E212K|CASP1_uc010rvk.2_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	367					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAAATTTCCTCCACATCACAG	0.408000														65			10		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74828873	74828873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:74828873G>A	uc004air.3	+	4	753	c.544G>A	c.(544-546)Gag>Aag	p.E182K	GDA_uc011lse.2_Missense_Mutation_p.E108K|GDA_uc004aiq.3_Missense_Mutation_p.E182K|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.E108K|GDA_uc004ais.3_Missense_Mutation_p.E140K|GDA_uc004ait.1_Missense_Mutation_p.E108K	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	182					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGAATACAAGGAGACCACTGA	0.398000														83			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430031	179430031	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179430031T>A	uc021vsy.1	-	274	73349	c.73124A>T	c.(73123-73125)aAc>aTc	p.N24375I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N18070I|TTN_uc021vta.1_Missense_Mutation_p.N18003I|TTN_uc021vtb.1_Missense_Mutation_p.N17878I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25302	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I24375M(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)			GTCATCTTTGTTACCTTCTTT	0.398000														46			8		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11287479	11287479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11287479G>A	uc002mqm.3	-	4	1638	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	KANK2_uc021upe.1_Missense_Mutation_p.S512F|KANK2_uc002mqo.4_Missense_Mutation_p.S512F|KANK2_uc002mqp.1_Missense_Mutation_p.S321F	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	512										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAGTCCTCGGATGACGACTC	0.607000														61			8		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097674	9097674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:9097674C>T	uc001apo.3	-	11	1769	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SLC2A5_uc010nzy.2_Missense_Mutation_p.E434K|SLC2A5_uc010nzz.2_Missense_Mutation_p.E378K|SLC2A5_uc010oaa.2_Missense_Mutation_p.E449K	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	493					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGAAGCTCTTTCAGTTCC	0.498000														182			25		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062858	46062858	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46062858G>A	uc003cpe.3	-	2	806	c.582C>T	c.(580-582)ttC>ttT	p.F194F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.F194F|XCR1_uc021wwx.1_Silent_p.F194F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	194					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGACAGCAGGAAGAAGAGGT	0.567000														53			4		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573242	142573242	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142573242G>A	uc003wbx.2	-	7	1330	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	TRPV6_uc003wbw.1_Silent_p.L153L|TRPV6_uc010lou.1_Silent_p.L238L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	367					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTGCTGTAAGAGGGTGTTGT	0.562000														97			22		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174039	21174039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21174039G>A	uc002zsz.4	-	5	766	c.505C>T	c.(505-507)Cga>Tga	p.R169*	PI4KA_uc010gsq.2_Nonsense_Mutation_p.R255*	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	169					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAACGCCTTCGAACACCTTCA	0.517000														188			18		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637009	248637009	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248637009C>T	uc001iel.1	+	0	358	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTTTTCCTCCTGGCTGCCAT	0.567000														45			3		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874065	36874065	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36874065A>T	uc003cgj.3	-	20	7125	c.6877T>A	c.(6877-6879)Ttc>Atc	p.F2293I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2293					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGAGAAGGAAAGCTTGCATG	0.493000														34			4		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33999493	33999493	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:33999493G>A	uc001bxm.1	-	62	10071	c.9894C>T	c.(9892-9894)gtC>gtT	p.V3298V	CSMD2_uc001bxn.1_Silent_p.V3154V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3154						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)				AACGGAAGAGGACTGTGCTTC	0.567000														43			7		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545077	186545077	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:186545077C>T	uc003iyg.3	-	12	1868	c.1836G>A	c.(1834-1836)acG>acA	p.T612T	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.T598T|SORBS2_uc003iyl.3_Silent_p.T498T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.T402T|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	498						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T498T(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCACCTCCTCCGTGGAGCACT	0.572000														99			7		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274811	29274811	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29274811G>A	uc011dln.2	+	0	345	c.345G>A	c.(343-345)gtG>gtA	p.V115V		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCTCACAGTGATGTCTTATG	0.448000														82			6		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842714	123842714	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:123842714C>T	uc001lfv.3	+	3	1059	c.699C>T	c.(697-699)ggC>ggT	p.G233G	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G233G|TACC2_uc010qtv.2_Silent_p.G233G	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	233						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGCAGGTGGCTTTCCCCCTG	0.627000														36			6		0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426289	132426289	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:132426289C>T	uc001ujf.3	+	4	1452	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	PUS1_uc001ujg.3_Silent_p.L305L|PUS1_uc001ujh.3_Silent_p.L305L|PUS1_uc001uji.3_Silent_p.L280L	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	333						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CGGACTCGGCCTGGTCCTGGA	0.642000														55			6		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510461	9510461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:9510461G>A	uc002wni.2	+	5	1332	c.837G>A	c.(835-837)atG>atA	p.M279I	LAMP5_uc010zrc.2_Missense_Mutation_p.M235I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	279						integral to membrane											ATAAGCACATGGGCTAGAGGC	0.522000														88			9		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65824770	65824770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:65824770C>T	uc001ogy.1	+	6	741	c.701C>T	c.(700-702)cCt>cTt	p.P234L		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	234					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCCCCACTCCTACAGTTTTG	0.537000														203			14		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797502	52797502	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52797502C>T	uc001sai.1	-	1	718	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	201	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		tgtagccctccagtgcAGCCT	0.577000														126			15		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61070607	61070607	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:61070607G>A	uc001nrc.4	-	22	3079	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	DDB1_uc010rle.1_Silent_p.P262P|DDB1_uc010rlf.1_Silent_p.P951P	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	951	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCCAGTTGGGATTAAAGT	0.413000								Nucleotide excision repair (NER)						202			25		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358371	124358371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124358371C>T	uc001lgk.1	+	25	3144	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	DMBT1_uc001lgl.1_Missense_Mutation_p.S1003F|DMBT1_uc001lgm.1_Missense_Mutation_p.S514F|DMBT1_uc021qaf.1_Missense_Mutation_p.S1013F|DMBT1_uc021qag.1_Missense_Mutation_p.S1003F|DMBT1_uc021qah.1_Missense_Mutation_p.S514F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1013F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1013	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)				TACCAAGGCTCCTGGGGCACC	0.587000														522			49		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797356	127797356	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:127797356G>A	uc003qbd.3	-	5	2680	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	605						integral to membrane											CCAGTTCGACGATTTTCCTGC	0.607000														240			12		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029119	219029119	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219029119C>T	uc021vwq.1	-	0	816	c.816G>A	c.(814-816)gtG>gtA	p.V272V	CXCR1_uc002vhc.3_Silent_p.V272V|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	272					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TCTCCTGGATCACCTGGGTCC	0.582000														80			6		0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27820991	27820991	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27820991T>G	uc002rla.3	+	2	234	c.147T>G	c.(145-147)gaT>gaG	p.D49E	ZNF512_uc010ylw.2_Missense_Mutation_p.D48E|ZNF512_uc002rlb.3_5'UTR|ZNF512_uc010ylx.2_5'UTR|ZNF512_uc002rlc.3_5'UTR|ZNF512_uc010ylv.2_5'UTR|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_5'UTR	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TCCCTCATGATGACTCCTTAA	0.408000														166			7		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196714990	196714990	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:196714990G>A	uc001gtj.4	+	20	3594	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1118	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGACAATGGGGACATTACTT	0.393000														124			5		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125276	6125276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6125276C>T	uc001qnn.1	-	30	5684	c.5434G>A	c.(5434-5436)Gct>Act	p.A1812T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1812	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCGGCATCAGCTGCTGCATCC	0.527000														55			4		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9090993	9090993	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:9090993C>T	uc001mhi.2	-	4	642	c.567G>A	c.(565-567)aaG>aaA	p.K189K	SCUBE2_uc001mhj.2_Silent_p.K189K	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	189	EGF-like 4 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTGGGGCCTCCTTGCAGATGT	0.557000														142			13		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11354310	11354311	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:11354310_11354311GG>AA	uc001mjo.2	-	7	1767_1768	c.1346_1347CC>TT	c.(1345-1347)acc>aTT	p.T449I		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	449						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		ACCACCGGAAGGTCTTGCACTG	0.545000														84			10		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73680366	73680366	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:73680366C>T	uc001ouo.3	+	7	1548	c.797_splice	c.e7+1	p.H266_splice		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	266					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TGACATCATCCAGTGAGTCCA	0.567000														92			12		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595227	64595227	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64595227G>A	uc001obs.4	-	30	3996	c.3996C>T	c.(3994-3996)ttC>ttT	p.F1332F		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1332	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGTTCTCGCTGAACACTGTCA	0.627000														94			8		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518262	108518262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:108518262G>A	uc001vql.3	-	0	1199	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	228						integral to membrane	binding	p.S228A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGTGTGTAGGAATTACAAAA	0.567000														172			12		0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76879080	76879080	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:76879080T>C	uc003hje.4	-	17	1617	c.1498A>G	c.(1498-1500)Acc>Gcc	p.T500A	SDAD1_uc003hjf.4_Missense_Mutation_p.T403A|SDAD1_uc011cbr.2_Missense_Mutation_p.T463A	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	500					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTGAGACTGGTACTTTCCCAT	0.408000														166			18		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324273	7324273	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7324273T>A	uc001mfe.3	+	1	386	c.149T>A	c.(148-150)aTc>aAc	p.I50N	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	50						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.I50I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTGCAGATATCTCAGTGAGC	0.542000														105			5		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55269012	55269012	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:55269012C>T	uc003tqk.3	+	24	3324	c.3078C>T	c.(3076-3078)agC>agT	p.S1026S	EGFR_uc022adm.1_Silent_p.S1026S|EGFR_uc010kzg.2_Silent_p.S981S|EGFR_uc022adn.1_Silent_p.S981S|EGFR_uc011kco.2_Silent_p.S973S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1026	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTTCAGCAGCCCCTCCACGT	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				126			11		0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71006540	71006540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:71006540G>A	uc004agr.3	+	4	1017	c.788G>A	c.(787-789)gGa>gAa	p.G263E		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	263					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAAGACTTTGGAGGGCAGCAC	0.473000														48			7		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57591086	57591086	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:57591086G>A	uc001snd.3	+	56	9547	c.9081G>A	c.(9079-9081)gaG>gaA	p.E3027E		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3027					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)	CTGCAGACGAGGAACCGTTTC	0.592000														285			17		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920664	155920664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155920664G>A	uc001fmu.2	-	23	3046	c.2791C>T	c.(2791-2793)Ctc>Ttc	p.L931F	ARHGEF2_uc001fmq.2_Missense_Mutation_p.L125F|ARHGEF2_uc001fmr.2_Missense_Mutation_p.L859F|ARHGEF2_uc001fms.2_Missense_Mutation_p.L886F|ARHGEF2_uc001fmt.2_Missense_Mutation_p.L887F	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	887					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGCGGGGAGGCTGCGCCGC	0.672000														131			6		0	0	1	0	0
FOXD4L3	286380	broad.mit.edu	37	9	70918873	70918873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:70918873G>A	uc004agm.1	+	0	1091	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	Homo sapiens forkhead box D4-like 3 (FOXD4L3), mRNA.	336						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GGGGTCAGGGGAGCGGGTACA	0.627000														284			23		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530445	125530445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:125530445C>T	uc010flu.3	+	16	2967	c.2603C>T	c.(2602-2604)tCt>tTt	p.S868F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S867F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	867	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTCTCCTTCTCTTCTGAAT	0.527000														67			4		0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471596	39471596	+	Missense_Mutation	SNP	C	T	T	rs76002044		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39471596C>T	uc002hwj.3	-	0	352	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.	103						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CATTTTGTGTCGCATATAGGT	0.612000														47			5		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935272	28935272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28935272G>A	uc002kwp.3	+	14	3325	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	DSG1_uc010xbp.2_Missense_Mutation_p.R397Q	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	1038					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCTCGAAGTCGAATCACAAAG	0.478000														65			5		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457101	107457101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107457101G>A	uc011lvs.2	+	0	399	c.399G>A	c.(397-399)atG>atA	p.M133I		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTCTGCAGATGGTTGTGTCCC	0.483000														154			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239851	3239851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3239851G>A	uc004crg.4	-	4	4032	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1292						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)				GTAATCTAAGGAATCATAAGG	0.368000														40			3		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31711761	31711761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31711761C>T	uc003nwu.2	+	5	624	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	MSH5_uc003nwx.2_Missense_Mutation_p.L166F|MSH5_uc003nwv.2_Missense_Mutation_p.L166F|MSH5_uc003nww.2_Missense_Mutation_p.L166F|MSH5_uc011dof.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	166					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TGAGAAAATCCTCTTCCTCTC	0.517000								Direct reversal of damage;Mismatch excision repair (MMR)						310			31		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98763836	98763836	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98763836A>C	uc001kmw.2	-	33	4106	c.3854T>G	c.(3853-3855)cTc>cGc	p.L1285R		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1285	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCCACATAGAGTGGCGCCTC	0.587000														121			15		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891546	6891546	+	Silent	SNP	C	T	T	rs144699545		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6891546C>T	uc001meu.1	+	0	561	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTACGCCATCGTCGGAACCA	0.517000														126			12		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256911	63256911	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:63256911C>T	uc011cqt.2	-	0	636	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	212					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CATAGAGAACCAGCATGAGCA	0.567000														216			13		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656780	150656780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150656780C>T	uc003wic.3	-	2	753	c.352G>A	c.(352-354)Gag>Aag	p.E118K	KCNH2_uc011kux.2_Missense_Mutation_p.E22K|KCNH2_uc003wie.3_Missense_Mutation_p.E118K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	118	PAC.				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)	GCCCCATCCTCGTTCTTCACG	0.597000														101			14		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22180973	22180973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	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														166			13		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276615	152276615	+	Missense_Mutation	SNP	C	T	T	rs144652887		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276615C>T	uc001ezu.1	-	2	10783	c.10747G>A	c.(10747-10749)Gaa>Aaa	p.E3583K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3583	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.557000									Ichthyosis					203			35		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660665	8660665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8660665G>A	uc002mkj.1	-	11	1734	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	ADAMTS10_uc002mkk.1_Missense_Mutation_p.S119L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	487	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACACTGACGCGATTTGACTCC	0.612000														284			15		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729346	35729346	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:35729346A>T	uc011axy.2	+	4	589	c.377A>T	c.(376-378)gAa>gTa	p.E126V	ARPP21_uc003cga.3_Missense_Mutation_p.E126V|ARPP21_uc003cgb.3_Missense_Mutation_p.E126V|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	126						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAACCTCTGAAAAACCCAAG	0.348000														71			9		0	0	1	0	0
SLC35E2	9906	broad.mit.edu	37	1	1663939	1663939	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1663939G>A	uc001aia.2	-	5	1179	c.756C>T	c.(754-756)gtC>gtT	p.V252V	SLC35E2B_uc001ahh.4_Intron|SLC35E2_uc001ahy.3_Intron	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	Homo sapiens solute carrier family 35, member E2 (SLC35E2), transcript variant 1, mRNA.	252						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGACAAGGCGACTCGGTGCA	0.617000														24			4		0	0	1	0	0
CD9	928	broad.mit.edu	37	12	6344620	6344620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6344620C>T	uc010sev.2	+	4	758	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	CD9_uc001qnq.2_Intron			P21926	CD9_HUMAN	Homo sapiens CD9 molecule (CD9), mRNA.	0					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						CTCTCATCCCCATCCCTGCCT	0.512000														39			6		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388965	20388965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20388965C>T	uc010tkw.2	+	0	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAACCTTTCCTTTGTTGAC	0.433000														132			10		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139790936	139790936	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139790936G>A	uc003vvm.3	-	19	2788	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	928					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCAACTTAAGGATCTTCCCAA	0.443000														96			16		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185151	53185151	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53185151C>T	uc001say.3	-	6	1440	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	458	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CATTGGCATCCTTGAGGGCCA	0.592000														114			10		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4703814	4703814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:4703814C>T	uc003bqc.3	+	13	1605	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S	ITPR1_uc021wsi.1_Missense_Mutation_p.P434S|ITPR1_uc021wsj.1_Missense_Mutation_p.P419S|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	434	MIR 5.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.P419L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGCCATAGTTCCGGTTTCTCC	0.507000														73			9		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2949716	2949716	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:2949716G>A	uc003smv.3	-	23	3562	c.3228C>T	c.(3226-3228)atC>atT	p.I1076I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1076	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACACACCCGGATGAAGAGCA	0.587000			Mis		DLBCL									213			14		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71433891	71433891	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:71433891G>A	uc010dfm.3	-	7	987	c.987C>T	c.(985-987)ccC>ccT	p.P329P	SDK2_uc010dfn.2_Silent_p.P8P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	329	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCCTGACAGGGGATGTCCA	0.562000														168			10		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639247	38639247	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38639247G>A	uc021wvo.1	-	12	2287	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	SCN5A_uc021wvk.1_Silent_p.F745F|SCN5A_uc021wvl.1_Silent_p.F745F|SCN5A_uc021wvm.1_Silent_p.F745F|SCN5A_uc021wvn.1_Silent_p.F745F|SCN5A_uc021wvp.1_Silent_p.F745F|SCN5A_uc021wvq.1_Silent_p.F745F|SCN5A_uc021wvr.1_Silent_p.F745F|SCN5A_uc021wvs.1_Silent_p.F745F|SCN5A_uc021wvt.1_Silent_p.F745F|SCN5A_uc021wvu.1_Silent_p.F745F|SCN5A_uc021wvv.1_Silent_p.F745F|SCN5A_uc021wvj.1_Silent_p.F611F|SCN5A_uc021wvi.1_Silent_p.F611F|SCN5A_uc021wvw.1_Silent_p.F356F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	745					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)	GCATCTCCTCGAATTCACTTG	0.562000														92			9		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841757	70841757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70841757G>A	uc002ezr.3	-	85	15240	c.15089C>T	c.(15088-15090)tCg>tTg	p.S5030L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5031										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)				GGCTCGGATCGAGAAGGGACC	0.532000														95			5		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076824	92076824	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:92076824C>T	uc001xzs.1	-	21	2738	c.2598_splice	c.e21+1	p.P866_splice	CATSPERB_uc010aub.1_Splice_Site_p.P388_splice	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	866					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTTTTTTTACCGGCAAAGTTT	0.358000														53			3		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922587	43922587	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43922587G>A	uc010wka.2	+	0	332	c.315G>A	c.(313-315)acG>acA	p.T105T	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	105						integral to membrane	aspartic-type endopeptidase activity										GCTTCCACACGAAAGGCTGGC	0.667000														88			7		0	0	1	0	0
SNORD114-22	767600	broad.mit.edu	37	14	101449280	101449280	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101449280C>T	uc001yjm.3	+	0		c.18C>T								Homo sapiens small nucleolar RNA, C/D box 114-22 (SNORD114-22), small nucleolar RNA.																		ATGATGACTACCGGTGGCGTA	0.368000														111			11		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23749924	23749924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:23749924C>T	uc003sws.4	+	0	87	c.20C>T	c.(19-21)tCt>tTt	p.S7F	STK31_uc003swt.4_5'UTR|STK31_uc011jze.2_Missense_Mutation_p.S7F|STK31_uc010kuq.3_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	7							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGGGTCACTCTTCTAGAGCT	0.582000														40			5		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015056	53015056	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53015056G>A	uc002pzp.4	+	5	1666	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGAGACACAAGATAATTCATA	0.408000														67			15		0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942668	6942668	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6942668C>T	uc010rav.2	+	0	436	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCAAGCCCCTGTACTACTC	0.512000														135			13		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731123	92731123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92731123C>T	uc003umf.3	-	2	4558	c.4288G>A	c.(4288-4290)Gaa>Aaa	p.E1430K	SAMD9_uc003umg.3_Missense_Mutation_p.E1430K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1430K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1430						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)			AAATACGGTTCTGAAAACTGA	0.373000														131			11		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588924	119588924	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:119588924C>T	uc001txa.2	+	9	1567	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	393	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.S393F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCGCAGCTCCTCCTATGCCA	0.567000														104			4		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616379	248616379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248616379C>T	uc001iek.1	+	0	281	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACCATTTCCTTCCTGGGC	0.522000														208			7		0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30451750	30451750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:30451750G>A	uc002wwu.1	-	4	291	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	DUSP15_uc002wwv.1_5'UTR|DUSP15_uc002www.1_5'UTR|DUSP15_uc002wwx.1_Missense_Mutation_p.H75Y			Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	72	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGCAGCAGTGGATGAAGTTG	0.552000														153			11		0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325058	74325058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:74325058G>A	uc003kdn.3	-	0	1667	c.805C>T	c.(805-807)Cat>Tat	p.H269Y		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	269					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTAAGTTCATGATGGTAAGTG	0.398000														133			8		0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23371420	23371420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23371420G>A	uc001whg.3	-	10	1301	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	RBM23_uc001whh.3_Nonsense_Mutation_p.Q352*|RBM23_uc001whi.3_Nonsense_Mutation_p.Q334*|RBM23_uc010tne.2_Nonsense_Mutation_p.Q198*|RBM23_uc001whj.3_Nonsense_Mutation_p.Q118*	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	368					mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCCATGAGCTGAAAACGTCCA	0.498000														104			6		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466432	68466432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:68466432G>A	uc003dnd.3	+	2	337	c.121G>A	c.(121-123)Gga>Aga	p.G41R	FAM19A1_uc003dne.3_Missense_Mutation_p.G41R|FAM19A1_uc003dng.3_Missense_Mutation_p.G41R	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	41						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTTGCCAGAAGGAGGGACGTG	0.468000														24			4		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940116	68940116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68940116G>A	uc009xpn.1	-	6	1129	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CTNNA3_uc001jmw.2_Missense_Mutation_p.R336C|CTNNA3_uc001jmx.4_Missense_Mutation_p.R336C|CTNNA3_uc009xpo.1_Missense_Mutation_p.R196C|CTNNA3_uc001jna.2_Missense_Mutation_p.R348C	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	336					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R336C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGAGCCTGGCGAATGGCGTTG	0.512000														48			6		0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167590488	167590488	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:167590488T>C	uc010kkp.3	+	3	495	c.364T>C	c.(364-366)Ttg>Ctg	p.L122L		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	122										endometrium(1)|kidney(2)|lung(3)	6						CTTTTAGGCATTGGAACCTGC	0.388000														158			7		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076964	41076964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:41076964C>T	uc002xkg.3	-	8	1640	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	PTPRT_uc010ggj.3_Missense_Mutation_p.G486R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	486	Fibronectin type-III 3.				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)				GGAACAGCTCCTGGAACTACA	0.483000														49			7		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41000803	41000803	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41000803G>A	uc002ony.3	+	6	674	c.588_splice	c.e6-1	p.G196_splice	SPTBN4_uc002onx.3_Splice_Site_p.G196_splice|SPTBN4_uc002onz.3_Splice_Site_p.G196_splice	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	196	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			cacccttccAGTTACCCTGAG	0.542000														60			4		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000														77			8		0	0	1	0	0
BIN3	55909	broad.mit.edu	37	8	22481492	22481492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:22481492G>A	uc003xcl.3	-	7	648	c.551C>T	c.(550-552)cCg>cTg	p.P184L	BIN3_uc010ltw.3_Missense_Mutation_p.P130L	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	Homo sapiens bridging integrator 3 (BIN3), mRNA.	184	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GTAGAAGCGCGGCATCTCCTC	0.617000														23			3		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47389690	47389690	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47389690T>C	uc002leb.2	-	28	4139	c.3851A>G	c.(3850-3852)aAc>aGc	p.N1284S	MYO5B_uc002lea.2_Missense_Mutation_p.N425S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1284					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)		GGCATTAATGTTCGGCTCCTA	0.428000														83			5		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123518537	123518537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:123518537C>T	uc010nqy.3	-	29	6308	c.6244G>A	c.(6244-6246)Gag>Aag	p.E2082K	ODZ1_uc011muj.2_Missense_Mutation_p.E2081K|ODZ1_uc004euj.3_Missense_Mutation_p.E2075K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2075					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.F2082F(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						CCAAACTGCTCTGTTCTGCCA	0.383000														51			4		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002610	122002610	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:122002610C>T	uc003eew.4	+	6	2277	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	CASR_uc003eev.4_Silent_p.I603I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	603					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.G613W(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAAGGAGATCGAGTTTCTGT	0.517000														78			6		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120385879	120385879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:120385879G>A	uc003vjj.1	+	4	2478	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	505					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AAGCTGCATGGAAGTTGCAAC	0.408000														30			3		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46847631	46847631	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:46847631C>T	uc003oyo.3	-	8	1249	c.960G>A	c.(958-960)tcG>tcA	p.S320S	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.S320S|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Silent_p.S320S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	320	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CGGTGTAAATCGAGAATCTGC	0.463000														98			9		0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38933310	38933310	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38933310T>A	uc002hvg.3	-	7	1362	c.1321A>T	c.(1321-1323)Act>Tct	p.T441S		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	441	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTTCCACAGTGTGAACTCTG	0.413000														68			7		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75505590	75505590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:75505590C>T	uc003kei.1	+	3	925	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	264					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S264*(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACTGTGTTCTCGTACTTTGCT	0.557000														100			6		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763711	82763711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82763711G>A	uc003uhx.2	-	2	3444	c.3155C>T	c.(3154-3156)tCg>tTg	p.S1052L	PCLO_uc003uhv.2_Missense_Mutation_p.S1052L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	998					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						TGGTTTGGGCGATTTCTCCAG	0.408000														42			7		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860447	26860447	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:26860447G>A	uc003acl.3	-	10	1808	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	HPS4_uc003aci.3_Silent_p.A378A|HPS4_uc003acj.3_Silent_p.A247A|HPS4_uc003ack.3_Silent_p.A174A|HPS4_uc003acn.3_Silent_p.A229A|HPS4_uc010gvd.1_Silent_p.A401A|HPS4_uc003ach.3_Silent_p.A118A	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	383					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AATGACCTGAGGCCATTTCCA	0.547000									Hermansky-Pudlak syndrome					52			7		0	0	1	0	0
BC071797	0	broad.mit.edu	37	21	9769119	9769119	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:9769119G>A	uc011abu.2	+	9		c.1094G>A								Homo sapiens, clone IMAGE:4720764, mRNA.																		GCTCAATTCCGATCTGTTGAA	0.373000														11			3		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239040037	239040037	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:239040037G>A	uc002vxq.4	+	8	2792	c.2682G>A	c.(2680-2682)tgG>tgA	p.W894*	ESPNL_uc010fyw.3_Nonsense_Mutation_p.W590*	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	894								p.G893C(2)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCACGGCTGGGAGGCTGTGC	0.687000														12			3		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320319	56320319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56320319G>A	uc010ygf.2	-	4	2368	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	NLRP11_uc002qlz.3_Missense_Mutation_p.R454W|NLRP11_uc002qmb.3_Missense_Mutation_p.R454W|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	553							ATP binding	p.N552N(1)|p.R553L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTTCTTCCCGATTCTCATAG	0.433000														87			11		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102338566	102338566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102338566C>T	uc004eju.3	-	3	477	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Missense_Mutation_p.E136K|NXF3_uc011mrx.1_Missense_Mutation_p.E47K	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	136	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACACTGCATTCATTCTGAATC	0.463000														85			18		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119986103	119986103	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:119986103C>T	uc001pwz.3	-	7	1771	c.1647G>A	c.(1645-1647)cgG>cgA	p.R549R	TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Silent_p.R288R|TRIM29_uc010rzj.2_Silent_p.R282R|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	549					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGCTTTGGCTCCGCATGAGGG	0.622000														43			5		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687892	60687892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:60687892C>T	uc002sae.1	-	3	2383	c.2155G>A	c.(2155-2157)Gga>Aga	p.G719R	BCL11A_uc002sab.3_Missense_Mutation_p.G719R|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.G388R|BCL11A_uc010ypj.2_Missense_Mutation_p.G685R|BCL11A_uc002sad.1_Missense_Mutation_p.G567R|BCL11A_uc002saf.1_Missense_Mutation_p.G685R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	719					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCTCCCTCCACTTCCCGTG	0.647000			T	IGH@	B-CLL									75			8		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153035405	153035405	+	Silent	SNP	C	T	T	rs147489207	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153035405C>T	uc011dcy.2	+	4	729	c.702C>T	c.(700-702)atC>atT	p.I234I	GRIA1_uc003lva.4_Silent_p.I224I|GRIA1_uc003luy.4_Silent_p.I224I|GRIA1_uc003luz.4_Silent_p.I129I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.I144I|GRIA1_uc011dcx.2_Silent_p.I155I|GRIA1_uc011dcz.2_Silent_p.I234I|GRIA1_uc010jia.1_Silent_p.I204I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	224					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAATGGCATCGGCTACCACT	0.443000														59			8		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891930	132891930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:132891930G>A	uc011eck.2	+	0	470	c.470G>A	c.(469-471)tGg>tAg	p.W157*		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	157						plasma membrane	G-protein coupled receptor activity	p.S156Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGCGTGTCCTGGATCCTGCCC	0.502000														226			17		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174967	63174967	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:63174967C>T	uc001xfx.3	-	10	2277	c.2226G>A	c.(2224-2226)caG>caA	p.Q742Q	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	742					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCTCCATTCTGTAAGGAGC	0.532000														62			9		0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80213452	80213452	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:80213452C>T	uc002kej.3	-	3	525	c.188_splice	c.e3-1	p.V63_splice	CSNK1D_uc002kei.3_Splice_Site_p.V63_splice|CSNK1D_uc010wvj.2_Splice_Site|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	63	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TGGGGATGCCCACTAGGCAAG	0.572000														229			17		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52541961	52541961	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52541961G>A	uc003dej.3	+	19	2141	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	STAB1_uc003dei.1_Silent_p.K689K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	689					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.P688R(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTTCCCCAAGGAGTGTGTCT	0.577000														166			12		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76417031	76417031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:76417031C>T	uc021rkq.1	+	24	4411	c.4076C>T	c.(4075-4077)tCa>tTa	p.S1359L	LMO7_uc010thv.2_Missense_Mutation_p.S1077L|LMO7_uc001vjt.1_Missense_Mutation_p.S1025L|LMO7_uc001vjv.3_Missense_Mutation_p.S1126L|LMO7_uc010thw.2_Missense_Mutation_p.S1003L|LMO7_uc001vjw.1_Missense_Mutation_p.S1032L	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1411						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAGCATCTTCAGGTTTTCTT	0.353000														70			6		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82031727	82031727	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:82031727C>T	uc003hmh.2	-	13	1828	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	PRKG2_uc011ccf.1_Silent_p.Q185Q|PRKG2_uc011ccg.1_Silent_p.Q185Q|PRKG2_uc011cch.1_Silent_p.Q576Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	605	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCATGTTTTCTGTCCAGACC	0.418000														37			4		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131502360	131502360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131502360G>A	uc004bwa.1	-	12	2325	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	631					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGCATTGTAGGAAACCTCGAT	0.582000														20			3		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670558	186670558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186670558G>A	uc002upl.3	+	16	16792	c.16792G>A	c.(16792-16794)Ggg>Agg	p.G5598R	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCTAACATCAGGGTTGGCTAC	0.348000														41			4		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722237	141722237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141722237G>A	uc003vwy.3	+	6	934	c.880G>A	c.(880-882)Gga>Aga	p.G294R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	294	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACTCCCAATGGAGTAAGCTT	0.433000														60			7		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57168659	57168660	+	Splice_Site	DNP	AC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:57168659_57168660AC>TT	uc002iwy.4	-	3	608	c.164_splice	c.e3+1	p.R55_splice	TRIM37_uc002iwz.4_Splice_Site_p.R55_splice|TRIM37_uc002ixa.4_Splice_Site|TRIM37_uc010woc.2_Splice_Site_p.R21_splice	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	55						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGAAACACTTACCGGCAATGAG	0.381000									Mulibrey Nanism					72			7		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230629	21230629	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21230629A>T	uc002red.3	-	25	9239	c.9111T>A	c.(9109-9111)ctT>ctA	p.L3037L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3037					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S3036Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGAAAAGAAAAGAGAATTTT	0.408000														38			7		0	0	1	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149777980	149777980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:149777980G>A	uc010kid.3	-	3	772	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ZC3H12D_uc003qmn.1_Missense_Mutation_p.R168C	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	168						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGCACCTTGCGGGACGGCGTG	0.682000														89			7		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359357	66359357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66359357C>T	uc001oiq.4	-	0	1198	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	377										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGAGGCAGGCCTGAGTCCAG	0.582000														90			9		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410406	105410406	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105410406C>T	uc010axc.1	-	6	11502	c.11382G>A	c.(11380-11382)aaG>aaA	p.K3794K	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.K3694K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3794						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)			CAGTCACATCCTTGTCGGCCA	0.582000														511			87		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46308786	46308786	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46308786G>A	uc002zgd.2	-	12	1946	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	ITGB2_uc002zgf.3_Silent_p.F634F|ITGB2_uc011afl.1_Silent_p.F556F|ITGB2_uc010gpw.2_Silent_p.F577F|ITGB2_uc002zgg.2_Silent_p.F634F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	634					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCCCTTTTCGAACTTCAGGC	0.677000														41			5		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627275	31627275	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31627275C>T	uc010zuc.2	+	9	1023	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	BPIFB6_uc010zud.2_Silent_p.F280F	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	341						extracellular region	lipid binding										TGGAGATGTTCGCAGCTCGGT	0.522000														154			13		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101477456	101477456	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101477456G>A	uc010svm.1	+	16	1968	c.1396_splice	c.e16-1	p.E466_splice	ANO4_uc001thw.2_Splice_Site_p.E431_splice|ANO4_uc001thx.2_Splice_Site_p.E466_splice|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	466	Poly-Glu.					chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCCTTTAGGAAGAAATACG	0.378000										HNSCC(74;0.22)				70			13		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102555576	102555577	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:102555576_102555577CC>TT	uc010mbu.3	+	1	458_459	c.128_129CC>TT	c.(127-129)ccc>cTT	p.P43L	GRHL2_uc010mbt.1_Missense_Mutation_p.P43L|GRHL2_uc011lhi.1_Missense_Mutation_p.P43L	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	43	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTGGAGAATCCCCTGACAGCAG	0.545000														96			8		0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991700	14991700	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:14991700G>A	uc010xob.2	-	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TTTGTGACAAGGAATTCAGGG	0.488000														109			11		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82431795	82431795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:82431795C>T	uc001dit.4	+	10	2201	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P674S|LPHN2_uc001div.3_Missense_Mutation_p.P674S|LPHN2_uc009wcd.3_Missense_Mutation_p.P674S|LPHN2_uc001diw.3_Missense_Mutation_p.P258S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	687					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.P674S(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTTAAATTTCCTCTGGGCAT	0.438000														94			13		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963707	73963707	+	Missense_Mutation	SNP	C	T	T	rs139459124		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:73963707C>T	uc004eby.3	-	2	1302	c.685G>A	c.(685-687)Gat>Aat	p.D229N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	229					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	p.E228D(1)		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						TGAGCCGGATCCTCCAAGTCA	0.478000														69			14		0	0	1	0	0
GTF2IP1	2970	broad.mit.edu	37	7	72606585	72606585	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:72606585A>T	uc003txo.4	+	10	1460	c.579A>T	c.(577-579)atA>atT	p.I193I	FKBP6_uc003twz.2_Intron|GTF2IP1_uc011keq.1_Silent_p.I193I					Homo sapiens general transcription factor IIi, pseudogene 1 (GTF2IP1), non-coding RNA.																		CTAGTAAAATAAACACTAAAG	0.418000														45			9		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49973716	49973716	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49973716G>C	uc002pnt.3	+	16	2517	c.2401G>C	c.(2401-2403)Ggg>Cgg	p.G801R	ALDH16A1_uc010yar.2_Missense_Mutation_p.G750R|ALDH16A1_uc010yas.2_Missense_Mutation_p.G636R|ALDH16A1_uc010yat.2_Missense_Mutation_p.G638R	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	801							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GCTGCCTATGGGGGACTGATG	0.672000														10			3		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38103386	38103386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:38103386G>A	uc002yvr.2	+	6	840	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SIM2_uc002yvq.3_Missense_Mutation_p.E262K	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	262	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GGACCTGATCGAGAAGACCCT	0.612000														124			13		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665636	64665636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64665636G>A	uc001obx.3	-	33	4895	c.4780C>T	c.(4780-4782)Ctc>Ttc	p.L1594F	ATG2A_uc001obw.3_Missense_Mutation_p.L359F	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1594							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGGAAGAAGAGGGCATCCTGC	0.622000											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		107			8		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34192558	34192558	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:34192558G>A	uc001mvl.2	-	4	1883	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	300							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGTCCTGGTTGAATTTTTCAG	0.557000														58			6		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39823112	39823112	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:39823112C>T	uc021olw.1	+	8	6810	c.6810C>T	c.(6808-6810)gcC>gcT	p.A2270A	MACF1_uc021ols.1_Silent_p.A1768A|MACF1_uc001cdc.2_Silent_p.A1768A|MACF1_uc021olt.1_Silent_p.A1768A|MACF1_uc001cda.1_Silent_p.A1676A|MACF1_uc001cdb.1_Silent_p.A855A	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3835					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)			CAGCTCAGGCCTTCTTGGATC	0.502000														67			8		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82388008	82388008	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82388008C>T	uc003uhx.2	-	24	15601	c.15312G>A	c.(15310-15312)ggG>ggA	p.G5104G		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5027					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						TCATAAACTTCCCTCCATTGG	0.323000														38			4		0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76429781	76429781	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:76429781C>T	uc001xsc.2	-	4	1660	c.804G>A	c.(802-804)aaG>aaA	p.K268K	TGFB3_uc001xsd.3_Silent_p.K266K	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	268					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CCTTCTGCTTCTTGAGGCGCC	0.572000														136			15		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741093	146741093	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:146741093G>A	uc003weu.2	+	3	1013	c.497G>A	c.(496-498)tGg>tAg	p.W166*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	166	F5/8 type C.				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)			CCTCTGGATTGGAATGGAGAA	0.433000										HNSCC(39;0.1)				188			12		0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154931799	154931799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:154931799G>A	uc001fft.3	-	2	883	c.677C>T	c.(676-678)cCt>cTt	p.P226L		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	226	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCTCTGGAGAGGAGAAGGGCC	0.627000														33			4		0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167478	64167478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:64167478C>T	uc003ttd.3	+	6	1582	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	ZNF107_uc003tte.3_Missense_Mutation_p.H266Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAGAATTCATGCTGGGGA	0.358000														32			6		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843385	38843385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38843385G>A	uc021yzh.1	+	52	7748	c.7639G>A	c.(7639-7641)Ggg>Agg	p.G2547R	DNAH8_uc003ooe.2_Missense_Mutation_p.G2330R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTCTGGAAGGGTTAATTCC	0.299000														35			4		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826983	96826983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96826983C>T	uc001kkb.3	-	2	558	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CYP2C8_uc010qoa.2_Missense_Mutation_p.E85K|CYP2C8_uc010qoc.2_Missense_Mutation_p.E53K|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.E69K|CYP2C8_uc021pwl.1_Missense_Mutation_p.E85K|CYP2C8_uc010qod.1_Missense_Mutation_p.E69K	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	155					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTCTCAACTCCTCCACAAGG	0.512000														148			9		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380580	147380580	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:147380580C>T	uc021ovm.1	+	0	498	c.498C>T	c.(496-498)atC>atT	p.I166I	GJA8_uc001epu.2_Silent_p.I166I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	166					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGGGCTTCATCGTGGGCCACT	0.607000														189			22		0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567050	84567050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:84567050C>T	uc003pke.3	+	3	480	c.329C>T	c.(328-330)tCa>tTa	p.S110L	CYB5R4_uc003pkf.3_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	110	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCCACAATTTCATTTTATGAA	0.323000														102			9		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152426609	152426609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152426609C>T	uc021vrb.1	-	79	12342	c.12313G>A	c.(12313-12315)Gaa>Aaa	p.E4105K	NEB_uc002txr.3_Missense_Mutation_p.E571K|NEB_uc002txu.3_Missense_Mutation_p.E5806K|NEB_uc021vrc.1_Missense_Mutation_p.E5806K|NEB_uc010fnx.3_Missense_Mutation_p.E4093K|NEB_uc021vrd.1_Missense_Mutation_p.E4105K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4105					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTGCAGTTCGTAGGCCTTC	0.512000														13			3		0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1721867	1721867	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1721867G>A	uc001aif.3	-	8	1029	c.666C>T	c.(664-666)ttC>ttT	p.F222F	GNB1_uc009vky.3_Silent_p.F122F	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	222					Ras protein signal transduction|cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTGGCCAGTGAAGGTCTGCC	0.557000														111			10		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501559	150501559	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150501559G>A	uc003whx.1	+	6	744	c.666_splice	c.e6+1	p.G222_splice		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	222						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAACCAAAGGGGTGAGTCCC	0.552000														89			8		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90152080	90152080	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90152080C>T	uc002boe.3	+	14	2769	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S	C15orf42_uc021sug.1_Silent_p.S922S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	923			S -> C (in dbSNP:rs16943377).		DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AATTGCTTTCCCCTTCAAAGA	0.378000														46			5		0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7604846	7604846	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7604846C>T	uc010vuh.2	+	5	956	c.801C>T	c.(799-801)tcC>tcT	p.S267S	WRAP53_uc010vui.2_Silent_p.S267S|WRAP53_uc002gip.3_Silent_p.S267S|WRAP53_uc002gir.3_Silent_p.S267S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S234S|WRAP53_uc010vuj.2_Silent_p.S48S	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	267					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding	p.A266T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCCGGGCTTCCTTTCGCGCCT	0.607000														151			13		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550627	8550627	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8550627C>T	uc010dwe.3	+	13	1395	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	HNRNPM_uc010xke.1_Silent_p.L385L|HNRNPM_uc010dwd.3_Silent_p.L400L|HNRNPM_uc002mka.3_Silent_p.L304L|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	439	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCGCATGGGCCTGGTCATGGA	0.701000														136			11		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47865836	47865836	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47865836C>T	uc010xyn.2	+	5	1828	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	DHX34_uc010elc.1_Silent_p.G408G	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	493	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCCGGGCGGGCCGCACGGGCC	0.647000														27			7		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085795	17085795	+	Silent	SNP	G	T	T	rs1057379	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17085795G>T	uc010ock.2	-	7	1026	c.1026C>A	c.(1024-1026)atC>atA	p.I342I	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.I332I(2)|p.I342I(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TACAACGCCGGATCTGGTAGC	0.687000														32			6		2.17888e-05	2.19448e-05	1	1	0
GCNT4	51301	broad.mit.edu	37	5	74324860	74324860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:74324860C>T	uc003kdn.3	-	0	1865	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	335					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AAGTGCTCATCAGGAGAGTAT	0.423000														55			5		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480786	140480786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140480786C>T	uc003lio.3	+	0	553	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	185	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTCGCAGTCGTAGGGACGG	0.542000														98			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176515	140176515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140176515G>A	uc003lhd.2	+	0	2072	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E656K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E656K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	667	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)			GGACCACGGCGAACCAGCGTT	0.672000														106			6		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443229	1443229	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:1443229C>T	uc003jck.3	-	1	210	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	28					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGAGCTCCACCTCCTTCGGGC	0.632000														67			4		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110730439	110730439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:110730439G>A	uc003kpf.3	+	4	653	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CAMK4_uc010jbv.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	140	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.R139*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGTGAGCGAGATGCTGCAGA	0.388000														56			4		0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71574071	71574071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:71574071C>T	uc003xyp.3	-	1	276	c.184G>A	c.(184-186)Gct>Act	p.A62T	LOC286190_uc022avq.1_Non-coding_Transcript	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Homo sapiens lactamase, beta 2 (LACTB2), mRNA.	62							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TCAGTTAGAGCCTGCTTTAAA	0.388000														90			10		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982226	61982226	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:61982226G>A	uc002yes.2	-	4	715	c.537C>T	c.(535-537)ttC>ttT	p.F179F	CHRNA4_uc002yet.1_Silent_p.F3F|CHRNA4_uc010gke.1_Silent_p.F108F|CHRNA4_uc002yev.1_Silent_p.F3F|CHRNA4_uc010gkf.1_Silent_p.F3F	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	179					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCAGGAGCCGAATTTCATGG	0.602000														134			14		0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6330369	6330369	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6330369G>A	uc002gcp.3	-	3	569	c.474C>T	c.(472-474)gcC>gcT	p.A158A	AIPL1_uc021toq.1_Silent_p.A119A|AIPL1_uc002gcq.3_Silent_p.A98A|AIPL1_uc002gcr.3_Silent_p.A95A|AIPL1_uc010clk.3_Silent_p.A136A|AIPL1_uc010cll.3_Silent_p.A158A|AIPL1_uc021tor.1_Intron|AIPL1_uc002gcs.3_Silent_p.A158A	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	158					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AATCACTCGGGGCATCAACCT	0.607000														117			13		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930886	133930886	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:133930886C>T	uc001lkx.4	+	1	441	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGAAGGGGTTCGAGGTGGAGA	0.627000														110			10		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349133	150349133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150349133G>A	uc010ntg.2	+	1	1216	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	360	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTGGAGGAAACCCCGAT	0.632000														111			20		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55340883	55340883	+	Silent	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55340883C>A	uc021vbm.1	+	6	1101	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Silent_p.L261L|KIR3DL2_uc021vbo.1_Silent_p.L339L|KIR3DL2_uc002qhk.4_Silent_p.L356L|KIR3DL2_uc002qhl.4_Intron	NM_013289	NP_037421	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	356					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.L356F(1)		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)		tcctcctcctcttctttctcc	0.522000														87			11		0.00010058	0.000101171	1	1	0
ZBTB7C	201501	broad.mit.edu	37	18	45566609	45566609	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:45566609C>T	uc010dnv.3	-	2	1372	c.936G>A	c.(934-936)aaG>aaA	p.K312K	ZBTB7C_uc002ldb.3_Silent_p.K290K|ZBTB7C_uc010dnu.3_Silent_p.K299K|ZBTB7C_uc010dnw.3_Silent_p.K290K|ZBTB7C_uc010dnx.1_Silent_p.K290K|ZBTB7C_uc010dny.1_Silent_p.K290K|ZBTB7C_uc010dnz.1_Silent_p.K312K|ZBTB7C_uc010doi.1_Silent_p.K290K|ZBTB7C_uc010doj.1_Silent_p.K299K|ZBTB7C_uc010dok.1_Silent_p.K339K|ZBTB7C_uc010dol.1_Silent_p.K299K|ZBTB7C_uc010doa.1_Silent_p.K312K|ZBTB7C_uc010dob.1_Silent_p.K290K|ZBTB7C_uc010doc.1_Silent_p.K299K|ZBTB7C_uc010dod.1_Silent_p.K312K|ZBTB7C_uc010doe.1_Silent_p.K290K|ZBTB7C_uc010dof.1_Silent_p.K290K|ZBTB7C_uc010dog.1_Silent_p.K290K|ZBTB7C_uc010doh.1_Silent_p.K299K|ZBTB7C_uc010dom.1_Silent_p.K299K|ZBTB7C_uc010don.1_Silent_p.K298K|ZBTB7C_uc010dop.1_Silent_p.K290K|ZBTB7C_uc010doq.1_Silent_p.K299K|ZBTB7C_uc010dor.1_Silent_p.K312K|ZBTB7C_uc010dos.1_Silent_p.K290K|ZBTB7C_uc010dot.1_Silent_p.K290K|ZBTB7C_uc010doo.1_Silent_p.K290K|ZBTB7C_uc010dou.1_Silent_p.K299K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	290	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTCCTCCTCCTTGATCTTCC	0.622000														83			5		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590148	158590148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158590148C>T	uc001fst.1	-	43	6428	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2077					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGAATTTCATTCAGGGAG	0.473000														42			4		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784425	15784425	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15784425G>A	uc002nbl.3	+	1	205	c.86G>A	c.(85-87)tGg>tAg	p.W29*	CYP4F12_uc010xoo.2_Nonsense_Mutation_p.W29*|CYP4F12_uc010xop.2_Nonsense_Mutation_p.W29*	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTGGGCTCCTGGCTACTCGCC	0.627000														152			18		0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079087	122079087	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:122079087C>T	uc021rff.1	+	1	643	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	148					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TGCCCAACATCGAGGCGGTGA	0.622000														87			5		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587747	36587747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36587747G>A	uc003cgh.1	+	10	1214	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	STAC_uc011aya.1_Missense_Mutation_p.G331D	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	392					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAAAAGAAAGGCCTCATCCCC	0.443000														61			5		0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194877306	194877306	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:194877306G>A	uc003fum.4	-	2	765	c.657C>T	c.(655-657)atC>atT	p.I219I	XXYLT1_uc003ful.3_Silent_p.I16I|XXYLT1_uc011bsw.1_Silent_p.I73I	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	219						integral to membrane	transferase activity, transferring glycosyl groups										TGATCTGCAGGATCTCTGCGG	0.522000														98			6		0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2156695	2156695	+	Missense_Mutation	SNP	G	A	A	rs142012621		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:2156695G>A	uc009yde.3	-	1	162	c.59C>T	c.(58-60)tCg>tTg	p.S20L	IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Missense_Mutation_p.S20L|IGF2_uc009ydf.3_Missense_Mutation_p.S76L|IGF2_uc021qcb.1_Missense_Mutation_p.S20L|IGF2_uc001lvh.3_Missense_Mutation_p.S20L|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	20					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AATGCAGCACGAGGCGAAGGC	0.632000														73			5		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717043	13717043	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:13717043G>A	uc001rbt.2	-	12	3308	c.3129C>T	c.(3127-3129)tcC>tcT	p.S1043S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1043					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTCTTGAAGGAGAATTTGC	0.582000														37			4		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9538775	9538775	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:9538775G>A	uc010coc.3	+	11	1633	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	WDR16_uc002gly.3_Silent_p.K458K|WDR16_uc002glz.3_Silent_p.K390K			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	458						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.K458K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGCCCTGAAGGAACACAAGT	0.532000														82			8		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567101	45567101	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:45567101G>A	uc010dnv.3	-	2	880	c.444C>T	c.(442-444)atC>atT	p.I148I	ZBTB7C_uc002ldb.3_Silent_p.I126I|ZBTB7C_uc010dnu.3_Silent_p.I135I|ZBTB7C_uc010dnw.3_Silent_p.I126I|ZBTB7C_uc010dnx.1_Silent_p.I126I|ZBTB7C_uc010dny.1_Silent_p.I126I|ZBTB7C_uc010dnz.1_Silent_p.I148I|ZBTB7C_uc010doi.1_Silent_p.I126I|ZBTB7C_uc010doj.1_Silent_p.I135I|ZBTB7C_uc010dok.1_Silent_p.I175I|ZBTB7C_uc010dol.1_Silent_p.I135I|ZBTB7C_uc010doa.1_Silent_p.I148I|ZBTB7C_uc010dob.1_Silent_p.I126I|ZBTB7C_uc010doc.1_Silent_p.I135I|ZBTB7C_uc010dod.1_Silent_p.I148I|ZBTB7C_uc010doe.1_Silent_p.I126I|ZBTB7C_uc010dof.1_Silent_p.I126I|ZBTB7C_uc010dog.1_Silent_p.I126I|ZBTB7C_uc010doh.1_Silent_p.I135I|ZBTB7C_uc010dom.1_Silent_p.I135I|ZBTB7C_uc010don.1_Silent_p.I134I|ZBTB7C_uc010dop.1_Silent_p.I126I|ZBTB7C_uc010doq.1_Silent_p.I135I|ZBTB7C_uc010dor.1_Silent_p.I148I|ZBTB7C_uc010dos.1_Silent_p.I126I|ZBTB7C_uc010dot.1_Silent_p.I126I|ZBTB7C_uc010doo.1_Silent_p.I126I|ZBTB7C_uc010dou.1_Silent_p.I135I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	126	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGGCTCCATGATCTCCAGGC	0.587000														32			5		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970729	57970729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57970729C>T	uc010rkb.2	-	0	925	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	309					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)				CCTTTCATATCCTTATTCCTC	0.428000														114			13		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477266	128477266	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128477266C>T	uc003vnz.4	+	2	863	c.654C>T	c.(652-654)gcC>gcT	p.A218A	FLNC_uc003voa.4_Silent_p.A218A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	218	Actin-binding.|CH 2.			A -> S (in Ref. 1; AAD12245 and 2; AAF68195).	cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGAGAACGCCCGGGAGGCCA	0.701000														30			3		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603377	101603377	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101603377T>C	uc001thz.4	-	0	640	c.250A>G	c.(250-252)Att>Gtt	p.I84V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	84					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGCTAAAAATGGCCCCAAAA	0.567000														64			7		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356177	10356177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10356177C>T	uc002gmn.3	-	24	3295	c.3184G>A	c.(3184-3186)Gac>Aac	p.D1062N	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1062					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATTTTAGGTCACCCTCCAGT	0.338000														98			12		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326684	64326684	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64326684C>T	uc001oai.3	+	1	845	c.471C>T	c.(469-471)tcC>tcT	p.S157S	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.S157S|SLC22A11_uc001oak.1_5'Flank	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	157					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGGTGGGCTCCTTTATCTGGG	0.602000														74			8		0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688200	130688200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:130688200G>A	uc011mao.2	-	7	754	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	PIP5KL1_uc004bsu.3_Missense_Mutation_p.P34S	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	237	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						AGAACAAGGGGGCTGCCCTCA	0.582000														82			23		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798961	5798961	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5798961A>G	uc010qzn.2	-	0	937	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTACTCCATAAACAATAGGG	0.423000														42			4		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275788	71275788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71275788G>A	uc003hfi.3	+	2	917	c.743G>A	c.(742-744)gGt>gAt	p.G248D		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	248					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCCATTTTTGGTTGAACATGC	0.368000														35			7		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762131	96762131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:96762131C>T	uc003htr.4	+	0	893	c.830C>T	c.(829-831)cCc>cTc	p.P277L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	277					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGAAAGGGGCCCATACTGATG	0.448000														72			6		0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28543051	28543051	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:28543051G>A	uc001urv.3	-	0	267	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	31					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGGCTGACGAAGTTCTGCG	0.672000			T	ETV6	AML									21			3		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367195	107367195	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107367195G>A	uc011lvq.2	-	0	714	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACAGGTAGAGGAAGCTTTGC	0.403000														45			7		0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687429	130687429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:130687429C>T	uc011mao.2	-	8	919	c.874G>A	c.(874-876)Gat>Aat	p.D292N	PIP5KL1_uc004bsu.3_Missense_Mutation_p.D89N	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	292	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCCCTCTCATCCTCGTGGAGA	0.602000														109			9		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28465727	28465727	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28465727C>A	uc001zbj.3	-	36	5822	c.5716G>T	c.(5716-5718)Gtc>Ttc	p.V1906F		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1906	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCCACTGGACTCTTATCCAT	0.582000														150			16		3.99206e-14	4.04237e-14	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110778504	110778504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:110778504C>T	uc001tqk.4	+	13	2365	c.1802C>T	c.(1801-1803)cCt>cTt	p.P601L	ATP2A2_uc001tql.4_Missense_Mutation_p.P601L|ATP2A2_uc021rdt.1_Missense_Mutation_p.P449L	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	601					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGCTGGATCCTCCGAGAATC	0.517000														211			15		0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651946	11651947	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11651946_11651947GG>AA	uc002msc.1	+	1	283_284	c.119_120GG>AA	c.(118-120)ggg>gAA	p.G40E	CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	40	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGATCGAGGGGGTGACAGGCC	0.609000														34			8		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228169719	228169719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228169719G>A	uc002vom.2	+	46	4334	c.4172G>A	c.(4171-4173)gGt>gAt	p.G1391D	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'Flank|COL4A3_uc021vxt.1_5'Flank	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1391	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGCCAAGAGGTAAGCCAGGC	0.478000														23			4		0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607085	46607085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:46607085C>T	uc002ink.1	-	1	736	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	244						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCTGTGTTTCATTGAGCTCC	0.582000														300			27		0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75693679	75693679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:75693679C>T	uc003ueo.3	+	6	742	c.656C>T	c.(655-657)cCc>cTc	p.P219L	MDH2_uc011kgh.2_Missense_Mutation_p.P177L|MDH2_uc003uep.3_Missense_Mutation_p.P112L	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	219					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	GTGGACTTTCCCCAGGACCAG	0.647000														40			4		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201263115	201263115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:201263115C>T	uc001gwd.3	+	1	499	c.248C>T	c.(247-249)aCc>aTc	p.T83I	PKP1_uc001gwe.3_Missense_Mutation_p.T83I|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	83					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TATGGGACCACCAGCAGGAGC	0.512000														39			3		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75440017	75440017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:75440017G>A	uc010rru.2	+	4	833	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.R196Q	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	278					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCCTACCGCCGGCCCATCACC	0.562000														108			8		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603198	138603198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138603198C>T	uc011kql.2	-	1	1223	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	KIAA1549_uc011kqj.2_Missense_Mutation_p.E392K	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	392						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTATGCAATTCGGATGTTTTG	0.512000			O	BRAF	pilocytic astrocytoma									87			10		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309722	45309722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:45309722G>A	uc003bfn.3	-	4	962	c.811C>T	c.(811-813)Ccg>Tcg	p.P271S	PHF21B_uc011aqk.2_Missense_Mutation_p.P217S|PHF21B_uc003bfm.3_Missense_Mutation_p.P67S|PHF21B_uc011aql.2_Missense_Mutation_p.P229S|PHF21B_uc011aqm.1_Missense_Mutation_p.P217S	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	271							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TCCTGGGTCGGGGGCCGGTCT	0.662000														67			15		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991372	47991372	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:47991372A>G	uc002xur.1	-	1	891	c.725T>C	c.(724-726)aTg>aCg	p.M242T	KCNB1_uc002xus.1_Missense_Mutation_p.M242T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	242					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGTACTCCATGGTGAACCA	0.567000														67			6		0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114321934	114321934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:114321934C>T	uc010tkf.2	+	0	338	c.233C>T	c.(232-234)tCg>tTg	p.S78L		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	78	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTCCTACAATCGGCAGAGAAG	0.577000														69			10		0	0	1	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111826748	111826748	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:111826748C>T	uc009wgb.3	+	5		c.1432C>T								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		ATGTTGGATTCCCAGCCTATG	0.542000														26			4		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56098188	56098188	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:56098188T>C	uc010giw.1	-	2	801	c.690A>G	c.(688-690)caA>caG	p.Q230Q	CTCFL_uc010gix.1_Silent_p.Q230Q|CTCFL_uc002xym.2_Silent_p.Q230Q|CTCFL_uc010gjb.1_Silent_p.Q230Q|CTCFL_uc010gja.1_Silent_p.Q230Q|CTCFL_uc010gjc.1_Silent_p.Q230Q|CTCFL_uc010gjd.1_Silent_p.Q230Q|CTCFL_uc010gje.3_Silent_p.Q230Q|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Silent_p.Q25Q|CTCFL_uc010gjh.2_Silent_p.Q230Q|CTCFL_uc010gji.2_Silent_p.Q25Q|CTCFL_uc010gjj.2_Silent_p.Q230Q|CTCFL_uc021wfe.1_Silent_p.Q230Q|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Silent_p.Q230Q|CTCFL_uc010gjl.1_Silent_p.Q230Q	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	230					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGCTGTAGGTTGATCCTCTT	0.393000														169			11		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43173647	43173647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:43173647G>A	uc003xpz.1	+	8	1112	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	POTEA_uc003xqa.1_Missense_Mutation_p.E311K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	357										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGATTATCAGAAAACCTGAC	0.378000														101			8		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836151	93836151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:93836151C>T	uc001pep.2	+	14	2804	c.2647C>T	c.(2647-2649)Cca>Tca	p.P883S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	883	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAATTGTATTCCATGGGTTTA	0.348000														59			5		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901477	51901477	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:51901477G>A	uc002iua.2	+	0	1239	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	361	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G361G(2)|p.G361E(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATTTATGGGGGCAAGGTGT	0.463000														89			8		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686412	3686412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3686412C>T	uc002wja.3	-	2	685	c.685G>A	c.(685-687)Gag>Aag	p.E229K	SIGLEC1_uc002wiz.4_Missense_Mutation_p.E229K|SIGLEC1_uc002wjc.3_Missense_Mutation_p.E140K	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	229	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGTGAATCTCGCTCTGAGCC	0.622000														108			17		0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54515271	54515271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54515271G>A	uc002qct.3	+	3	1201	c.611G>A	c.(610-612)aGc>aAc	p.S204N	CACNG6_uc002qcu.3_Missense_Mutation_p.S158N|CACNG6_uc002qcv.3_Missense_Mutation_p.S133N	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	204						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V203A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CAGAGAGTCAGCCCGGAGCCT	0.706000														75			18		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248730	20248730	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20248730A>T	uc010tku.2	+	0	249	c.249A>T	c.(247-249)atA>atT	p.I83I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATGCTCATAGACTTCTTTG	0.448000														211			23		0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57543590	57543590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:57543590C>T	uc002aec.3	+	13	1441	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	TCF12_uc010ugm.1_Missense_Mutation_p.S438F|TCF12_uc010ugn.1_Missense_Mutation_p.S382F|TCF12_uc002aea.3_Missense_Mutation_p.S386F|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.S386F|TCF12_uc002aed.3_Missense_Mutation_p.S386F|TCF12_uc010ugo.2_Missense_Mutation_p.S150F|TCF12_uc002aee.3_Missense_Mutation_p.S216F|TCF12_uc010bft.3_Missense_Mutation_p.S216F|TCF12_uc010ugp.2_Missense_Mutation_p.S20F|TCF12_uc010ugq.2_Missense_Mutation_p.S20F|TCF12_uc010ugr.1_5'Flank	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	386					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S386S(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCACCTTCATCCCCAAGCTAT	0.438000			T	TEC	extraskeletal myxoid chondrosarcoma									40			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348599	140348599	+	Missense_Mutation	SNP	G	A	A	rs141580195		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140348599G>A	uc003lii.3	+	0	2853	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	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.E750K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	750					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)			TGGAGTAAGGGAAAGGTCCCC	0.458000														70			4		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276186	152276186	+	Missense_Mutation	SNP	G	A	A	rs145171931	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276186G>A	uc001ezu.1	-	2	11212	c.11176C>T	c.(11176-11178)Cgg>Tgg	p.R3726W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3726	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAGCCCGTCCATGGGCA	0.607000									Ichthyosis					316			14		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016329	141016329	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:141016329C>T	uc004cog.3	+	45	7037	c.6892C>T	c.(6892-6894)Ctg>Ttg	p.L2298L	CACNA1B_uc022bqn.1_Silent_p.P2235P|CACNA1B_uc004coi.3_Silent_p.L1512L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2300					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)	CGTGTCCTCCCTGACCTCCCA	0.662000														140			15		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161216977	161216977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:161216977G>A	uc011bpb.2	+	1	383	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	128	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGAGAGGCTGGAAATTTGGGG	0.393000														10			3		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178392	142178392	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:142178392A>C	uc003yvy.3	+	12	2081	c.1803A>C	c.(1801-1803)gaA>gaC	p.E601D	DENND3_uc010mep.3_Missense_Mutation_p.E562D|DENND3_uc003yvz.1_Missense_Mutation_p.E285D	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	601										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)			GGACGGTGGAATCCATGTCTG	0.572000														124			13		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389984	150389984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150389984G>A	uc003who.3	+	2	698	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	204						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTATTGAGGATCTGTTGAT	0.453000														179			6		0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114280858	114280858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:114280858G>A	uc009wgp.1	-	3	657	c.205C>T	c.(205-207)Cca>Tca	p.P69S	PHTF1_uc001edn.3_Missense_Mutation_p.P69S	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	69						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGTCCATGGAATTTCAGGT	0.373000														69			12		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372585	126372585	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126372585A>G	uc003ifj.4	+	8	10414	c.10414A>G	c.(10414-10416)Acc>Gcc	p.T3472A	FAT4_uc011cgp.2_Missense_Mutation_p.T1770A|FAT4_uc003ifi.1_Missense_Mutation_p.T950A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3472	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATCGAGAAACCCTTCCCAT	0.433000														62			7		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949651	70949651	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:70949651G>A	uc001swb.4	-	17	4369	c.4339_splice	c.e17+1	p.R1447_splice	PTPRB_uc010sto.2_Splice_Site_p.R1357_splice|PTPRB_uc010stp.2_Splice_Site_p.R1357_splice|PTPRB_uc001swc.4_Splice_Site_p.R1665_splice|PTPRB_uc001swa.4_Splice_Site_p.R1577_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1447					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACACTTACGGTCTATCATTG	0.522000														21			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390814	197390814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197390814G>A	uc001gtz.3	+	5	2065	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	CRB1_uc010poz.2_Missense_Mutation_p.G550E|CRB1_uc009wza.3_Missense_Mutation_p.G507E|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.G619E|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G100E|CRB1_uc001gub.1_Missense_Mutation_p.G268E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	619	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			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						TTACCAGTGGGAATGACCAGC	0.418000														122			14		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	751023	751023	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:751023G>A	uc003siu.2	-	1	253	c.120C>T	c.(118-120)atC>atT	p.I40I	PRKAR1B_uc021zyi.1_Silent_p.I40I|PRKAR1B_uc003siv.3_Silent_p.I40I|PRKAR1B_uc021zyj.1_Silent_p.I40I|PRKAR1B_uc021zyk.1_Silent_p.I40I|PRKAR1B_uc003siw.2_Silent_p.I40I	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	40	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CGGGCTTGGAGATGCAGAGGT	0.637000														129			12		0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130363994	130363994	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:130363994A>G	uc003vqi.3	-	5	844	c.387_splice	c.e5+1	p.M129_splice	TSGA13_uc003vqj.3_Splice_Site_p.M129_splice	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	129										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TCTGCTTACCATGACCTTGAG	0.428000														108			27		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30998294	30998294	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:30998294C>T	uc010qdx.1	+	7	1382	c.840C>T	c.(838-840)gcC>gcT	p.A280A						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		ATTTCGCAGCCACGGAGTTCG	0.557000														65			9		0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47284733	47284733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:47284733G>A	uc010hjp.3	-	16	2121	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	KIF9_uc003cqx.3_Missense_Mutation_p.S506F|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	506					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCTTGCCAAGGAGCTGGAAGA	0.542000														19			3		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65722340	65722340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:65722340C>T	uc001ssn.3	+	2	367	c.241C>T	c.(241-243)Cct>Tct	p.P81S	MSRB3_uc009zqp.3_Missense_Mutation_p.P74S|MSRB3_uc001ssm.3_Missense_Mutation_p.P74S|MSRB3_uc021qzy.1_Missense_Mutation_p.P74S	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	81					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TCACAAAGATCCTGGAATATA	0.308000														75			10		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149583553	149583553	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:149583553G>A	uc003lrr.3	+	9	1655	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	428						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGTTCTCAGGGCTCATCTGCG	0.587000														26			4		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526136	68526136	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68526136G>A	uc009xpn.1	-	8	1290	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	CTNNA3_uc001jmw.2_Silent_p.F389F|CTNNA3_uc001jmx.4_Silent_p.F389F	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	389					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCGTATCCAGGAAAGAGTCTG	0.388000														41			9		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324428	24324428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24324428C>T	uc003xeb.3	+	5	619	c.506C>T	c.(505-507)tCc>tTc	p.S169F	ADAM7_uc003xea.1_Missense_Mutation_p.S169F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	169					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GCCAATTATTCCTGTACAGAG	0.373000														123			5		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972231	22972231	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:22972231C>T	uc003xcy.3	+	2	536	c.228C>T	c.(226-228)acC>acT	p.T76T	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	76					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGGATTACACCAACGCTTCCA	0.483000														141			17		0	0	1	0	0
PHF23	79142	broad.mit.edu	37	17	7139346	7139346	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7139346G>A	uc002gfa.3	-	3	1127	c.900C>T	c.(898-900)agC>agT	p.S300S	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.S233S|PHF23_uc010cma.3_Silent_p.S170S	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	300							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCACCTCCTTGCTTTCACTGT	0.602000														293			34		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87037538	87037538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87037538C>T	uc003uiv.1	-	24	3170	c.3094G>A	c.(3094-3096)Gga>Aga	p.G1032R	ABCB4_uc003uiw.1_Missense_Mutation_p.G1032R|ABCB4_uc003uix.1_Missense_Mutation_p.G985R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1032					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTTATATTTCCTTCAAATTTA	0.368000														44			8		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038462	75038462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75038462C>T	uc001dgg.3	-	13	3151	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	978	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						GCTGGTTCCTCTCCCCCAAGA	0.527000														55			10		0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243266	19243266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19243266G>A	uc002nlg.3	-	4	368	c.338C>T	c.(337-339)tCg>tTg	p.S113L	TMEM161A_uc002nli.3_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	113					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CACGCCGCCCGAGTACACAGC	0.597000														184			22		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111474497	111474497	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:111474497A>G	uc003iab.4	+	17	2870	c.2528A>G	c.(2527-2529)aAc>aGc	p.N843S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	843					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAGGACACGAACCTTATTAAA	0.363000														76			5		0	0	1	0	0
RDH11	51109	broad.mit.edu	37	14	68157131	68157131	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:68157131G>A	uc001xjv.4	-	4	552	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RDH11_uc001xjx.4_Intron|RDH11_uc001xjw.4_Silent_p.F141F	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA.	154					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GGGTTAGGAGGAAGTGACCTG	0.478000														111			7		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89254618	89254618	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:89254618G>A	uc002fmt.3	+	6	980	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	301	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCACCATCCTGGAAGGCGACC	0.642000														29			3		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37681010	37681010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37681010C>T	uc010cvv.3	+	11	3765	c.3179C>T	c.(3178-3180)cCa>cTa	p.P1060L	CDK12_uc010wef.1_Missense_Mutation_p.P1059L|CDK12_uc002hrw.4_Missense_Mutation_p.P1060L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1060					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTCGAAGAGCCACCTCCATCC	0.532000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				116			11		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535103	88535103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:88535103C>T	uc003hqu.3	+	4	1409	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	430					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGCCAAAAATCAGAACCAGGA	0.408000														45			8		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904115	56904115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:56904115G>A	uc002ekd.4	+	4	738	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	SLC12A3_uc010ccm.3_Missense_Mutation_p.G237S|SLC12A3_uc010ccn.3_Missense_Mutation_p.G236S	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	237					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCACACGGTGGGCTTTGCAGA	0.657000														55			4		0	0	1	0	0
RBP5	83758	broad.mit.edu	37	12	7276770	7276770	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7276770C>T	uc001qsq.3	-	4	450	c.355_splice	c.e4-1	p.E119_splice		NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	119						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	GCAGTCAGTTCCTGGGGAGAG	0.577000														67			6		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145696	42145696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:42145696G>A	uc003gwn.3	-	2	1383	c.803C>T	c.(802-804)tCg>tTg	p.S268L	BEND4_uc003gwm.3_Missense_Mutation_p.S268L|BEND4_uc011byy.1_Missense_Mutation_p.S268L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	268										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ACTGGCTGACGAGGGGTTTGG	0.493000														42			4		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75552346	75552346	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:75552346A>G	uc001jvj.3	+	9	2304	c.2049A>G	c.(2047-2049)acA>acG	p.T683T	KIAA0913_uc001jve.3_Silent_p.T683T|KIAA0913_uc009xrl.3_Silent_p.T683T|KIAA0913_uc001jvf.3_Silent_p.T683T|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Silent_p.T106T|KIAA0913_uc010qkr.2_Silent_p.T106T	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	683							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					AGCCTCCCACAGCCTCTGTTG	0.582000														62			4		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726433	67726433	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:67726433C>T	uc009xpn.1	-	16	2460	c.2337G>A	c.(2335-2337)ctG>ctA	p.L779L	CTNNA3_uc001jmw.2_Silent_p.L779L	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	779					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCAGATTTTCAGTTGGTGGG	0.428000														70			4		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486981	20486981	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20486981C>T	uc010bwe.3	+	8	1223	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ACSM2A_uc010vax.1_Silent_p.F249F|ACSM2A_uc002dhf.4_Silent_p.F328F|ACSM2A_uc002dhg.4_Silent_p.F328F|ACSM2A_uc010vay.2_Silent_p.F249F|ACSM2A_uc002dhh.4_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	328					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTTACAAGTTCCCCCATCTAC	0.512000														112			9		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948186	145948186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145948186G>A	uc003zdv.4	-	4	1115	c.859C>T	c.(859-861)Cac>Tac	p.H287Y		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	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)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGTGAATTCTCCGA	0.433000														80			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534673	152534673	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152534673G>C	uc021vrb.1	-	30	3313	c.3284C>G	c.(3283-3285)gCt>gGt	p.A1095G	NEB_uc002txu.3_Missense_Mutation_p.A1095G|NEB_uc021vrc.1_Missense_Mutation_p.A1095G|NEB_uc010fnx.3_Missense_Mutation_p.A1095G|NEB_uc021vrd.1_Missense_Mutation_p.A1095G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1095					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.K1094N(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCCCTTTAGCCTTTTCATA	0.358000														25			4		0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86355108	86355108	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:86355108C>T	uc002sqw.2	+	13	1207	c.1141C>T	c.(1141-1143)Caa>Taa	p.Q381*	PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	381						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCTGTTTGATCAACCTGGTAT	0.338000														149			13		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190924966	190924966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:190924966C>T	uc002urp.3	-	1	702	c.569G>A	c.(568-570)cGa>cAa	p.R190Q		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	190					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTCAGAGATCGGATTCCAGT	0.428000														102			14		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481408	140481408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140481408G>A	uc003vwc.4	-	10	1461	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	467	Protein kinase.		S -> A (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(20)|p.G466E(7)|p.G466A(4)|p.G466R(3)|p.S467L(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTTCCAAATGATCCAGATCC	0.383000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					163			31		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104593873	104593873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:104593873G>A	uc001kwg.3	-	3	845	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	225					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GTTTTGTTGGGGAAAATCTGG	0.383000														28			4		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129507	10129507	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10129507C>T	uc002mmr.3	+	2	612	c.363C>T	c.(361-363)ctC>ctT	p.L121L		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	121					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CTGTCCGTCTCGTCAAAGCTG	0.592000														105			11		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817437	2817437	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:2817437C>A	uc002crk.3	+	10	7457	c.6908C>A	c.(6907-6909)cCa>cAa	p.P2303Q	SRRM2_uc002crj.1_Missense_Mutation_p.P2207Q|SRRM2_uc002crl.1_Missense_Mutation_p.P2303Q|SRRM2_uc010bsu.1_Missense_Mutation_p.P2207Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2303	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGAACCCCAGCTGCCTTG	0.627000														308			34		6.45866e-13	6.53669e-13	1	1	0
MGAM	8972	broad.mit.edu	37	7	141794428	141794428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141794428G>A	uc003vwy.3	+	38	4681	c.4627G>A	c.(4627-4629)Gag>Aag	p.E1543K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1543	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)	AGGCATGATGGAGTTCAGCCT	0.547000														74			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886431	228886431	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228886431C>T	uc002vpq.2	-	5	740	c.693G>A	c.(691-693)agG>agA	p.R231R	SPHKAP_uc002vpp.2_Silent_p.R231R|SPHKAP_uc010zlx.1_Silent_p.R231R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	231						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACCGTTCCTAGATTCAT	0.453000														52			5		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45448490	45448490	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:45448490C>T	uc002pah.3	+	2		c.352C>T				NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TCCTCGAATCCAAAGACAGCC	0.567000														356			52		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40421295	40421295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40421295C>T	uc002omp.4	-	4	2634	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	876	VWFD 2.					extracellular region	protein binding	p.D876D(1)		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)			CGCCGGCCGTCGAAGCTCACA	0.677000														6			4		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188335	57188335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:57188335G>A	uc010kzo.3	-	4	1058	c.787C>T	c.(787-789)Cat>Tat	p.H263Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H263Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAGTTCTCTTA	0.428000														28			3		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506165	131506165	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131506165G>A	uc001lkh.2	+	2	251	c.225G>A	c.(223-225)gtG>gtA	p.V75V		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	75										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GCAGTGCCGTGGAGGTCCCAG	0.587000								Direct reversal of damage						62			9		0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24985893	24985893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:24985893G>A	uc003aaq.2	-	1	231	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	GGT1_uc003aan.1_Intron|FAM211B_uc003aao.2_5'Flank	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	Homo sapiens family with sequence similarity 211, member B (FAM211B), mRNA.	68																	ATATCAGGAAGGAGGGTCCTC	0.607000														23			3		0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836885	116836885	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:116836885G>A	uc003pwy.3	+	1	715	c.663G>A	c.(661-663)aaG>aaA	p.K221K	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	221						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		ATGCACAAAAGGAGAAGGAGC	0.433000														61			6		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211533	81211533	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81211533G>A	uc002fgh.1	-	13	2316	c.2316C>T	c.(2314-2316)ccC>ccT	p.P772P	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Silent_p.P87P|PKD1L2_uc002fgj.3_Silent_p.P772P|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	772	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACCTCACGGGGAGGCACAG	0.612000														83			5		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157545494	157545494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157545494C>T	uc001fqw.3	-	10	1592	c.1456G>A	c.(1456-1458)Gat>Aat	p.D486N	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	486						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTCACCTTATCCTCTAGAAGT	0.458000														144			6		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553645	39553645	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39553645C>T	uc002hwn.3	-	0	200	c.147G>A	c.(145-147)gaG>gaA	p.E49E	KRT31_uc010cxn.3_Silent_p.E49E	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	49	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGAAGGAGCCCTCGCAGAACC	0.647000														171			7		0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97215090	97215090	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:97215090G>A	uc002swe.3	+	2	253	c.153G>A	c.(151-153)gaG>gaA	p.E51E	ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_Intron|ARID5A_uc002swg.3_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	51					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						agcgggaggaggagcaggagc	0.647000														104			10		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56171324	56171324	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:56171324A>C	uc002lhj.4	-	10	6300	c.6086T>G	c.(6085-6087)gTg>gGg	p.V2029G		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2029	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						CTCCTCCTCCACTGTAGCATA	0.448000														200			23		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776174	94776174	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94776174C>T	uc001ycv.3	-	2	887	c.783G>A	c.(781-783)ggG>ggA	p.G261G	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	261					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGAAGACAGTCCCATTGCCCA	0.562000														125			8		0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139168326	139168326	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139168326G>A	uc003vvb.3	-	0	132	c.63C>T	c.(61-63)ccC>ccT	p.P21P	KLRG2_uc010lnc.3_Silent_p.P21P	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 2 (KLRG2), mRNA.	21	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GGCTTCCCACGGGCTCCATTG	0.726000														27			4		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225599	61225599	+	Missense_Mutation	SNP	C	G	G	rs144275600		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61225599C>G	uc010xeo.2	+	1	183	c.183C>G	c.(181-183)aaC>aaG	p.N61K	SERPINB12_uc010xen.2_Missense_Mutation_p.N61K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	61					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TACACTTCAACGAATTTTCCC	0.413000														82			12		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287622	238287622	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:238287622G>C	uc002vwl.2	-	5	2439	c.2154C>G	c.(2152-2154)aaC>aaG	p.N718K	COL6A3_uc002vwo.2_Missense_Mutation_p.N512K|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.N512K|COL6A3_uc002vwr.3_Missense_Mutation_p.N311K|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	718	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAGCCTGTGTTCAGGCCCG	0.552000														29			7		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19051629	19051629	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19051629T>C	uc002dfp.2	+	8	1328	c.1198T>C	c.(1198-1200)Ttt>Ctt	p.F400L	TMC7_uc010vao.1_Missense_Mutation_p.F394S|TMC7_uc002dfq.3_Missense_Mutation_p.F400L|TMC7_uc010vap.2_Missense_Mutation_p.F290L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	400						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAAGATGGTTTTTGGAGAGAA	0.383000														86			13		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127961426	127961427	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:127961426_127961427GG>AA	uc003vmp.2	-	13	1570_1571	c.1455_1456CC>TT	c.(1453-1458)tcccga>tcTTga	p.R486*	RBM28_uc011koj.1_Nonsense_Mutation_p.R345*	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	486					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGCCTGGTTCGGGAGACAAAGA	0.470000														71			5		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990276	990276	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:990276C>T	uc003zgw.1	+	1	728	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	230					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)		AGAATCACCTCCTGATTGAGG	0.567000														87			9		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20763873	20763873	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20763873C>T	uc001vwt.3	-	6	894	c.837G>A	c.(835-837)gaG>gaA	p.E279E	TTC5_uc001vwu.3_Silent_p.E136E	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	279					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TTACCTTACTCTCAAGGAGGC	0.453000														87			5		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585687	189585687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:189585687G>A	uc003fry.2	+	6	1037	c.948G>A	c.(946-948)atG>atA	p.M316I	TP63_uc003frx.2_Missense_Mutation_p.M316I|TP63_uc003frz.2_Missense_Mutation_p.M316I|TP63_uc010hzc.1_Missense_Mutation_p.M316I|TP63_uc003fsa.2_Missense_Mutation_p.M222I|TP63_uc003fsb.2_Missense_Mutation_p.M222I|TP63_uc003fsc.2_Missense_Mutation_p.M222I|TP63_uc003fsd.2_Missense_Mutation_p.M222I|TP63_uc021xir.1_Missense_Mutation_p.M222I|TP63_uc010hzd.1_Missense_Mutation_p.M137I|TP63_uc003fse.1_Missense_Mutation_p.M197I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	316					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)		TTGGAGGGATGAACCGCCGTC	0.403000										HNSCC(45;0.13)				54			4		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63188777	63188777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:63188777C>T	uc001jlo.2	-	3	881	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	171						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGTTGATCTCGAGTGATCCC	0.443000														39			4		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110809049	110809049	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:110809049G>A	uc003kpf.3	+	7	901	c.666G>A	c.(664-666)gtG>gtA	p.V222V	CAMK4_uc010jbv.3_Silent_p.V25V	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	222	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GACCTGAGGTGGACATGTGGT	0.333000														84			10		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027582	37027582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37027582C>T	uc004ddl.2	+	0	1151	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	367										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCTCTCCGCCAGCTGCC	0.637000														67			10		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8416954	8416954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:8416954C>T	uc002glm.3	-	22	2743	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	MYH10_uc002gll.3_Missense_Mutation_p.E852K|MYH10_uc010cnx.3_Missense_Mutation_p.E861K	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	852					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGAAGTTCTTCCTCCTGGCGA	0.463000														182			17		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64675564	64675564	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:64675564G>C	uc001xgl.3	+	100	18520	c.18290G>C	c.(18289-18291)tGt>tCt	p.C6097S	SYNE2_uc001xgm.3_Missense_Mutation_p.C6097S|SYNE2_uc010apy.3_Missense_Mutation_p.C2482S|SYNE2_uc001xgn.3_Missense_Mutation_p.C1059S|SYNE2_uc021rui.1_Missense_Mutation_p.C1104S|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.C67S|SYNE2_uc001xgq.3_Missense_Mutation_p.C462S|SYNE2_uc001xgr.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6097					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCGATGCCTGTGCAAATGAG	0.537000														49			3		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699473	52699473	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52699473C>T	uc010snq.2	+	6	1060	c.927C>T	c.(925-927)atC>atT	p.I309I	KRT86_uc009zmg.3_Silent_p.I309I|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Silent_p.I309I	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	309	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACGGTGATCAGGCACGGGG	0.587000														71			6		0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490278	141490278	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141490278C>T	uc003vwr.1	+	0	262	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	39					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCAGAAAATTCAACTGGTCCT	0.458000														89			8		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55168407	55168407	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55168407T>C	uc010ooe.1	+	20	3877	c.3553T>C	c.(3553-3555)Tgc>Cgc	p.C1185R	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Missense_Mutation_p.C703R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.C386R	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1185						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						GGCCAAAATTTGCAAGTGCCT	0.502000														105			17		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51851172	51851172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:51851172C>T	uc010xdt.2	-	5	553	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	185	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATGGTTTTTTCAATTATTGAT	0.358000														36			5		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71501554	71501554	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71501554C>T	uc011caw.1	+	6	758	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	159					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)			TCTAGGCATTCCCACCATTTG	0.338000														159			8		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281277	142281277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142281277C>T	uc003eux.4	-	3	1089	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	323					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAGTTTTTCCAGCAGCATA	0.368000								Other conserved DNA damage response genes						102			11		0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51733669	51733669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:51733669C>T	uc001ryi.1	-	5	625	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	195	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						AACTCCATCTCCACCAGCACA	0.612000														66			8		0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140055487	140055487	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140055487A>G	uc003vvo.3	-	6	765	c.599T>C	c.(598-600)gTt>gCt	p.V200A	SLC37A3_uc003vvp.3_Missense_Mutation_p.V200A|SLC37A3_uc010lnh.3_Missense_Mutation_p.V200A|SLC37A3_uc011kqz.2_Non-coding_Transcript|SLC37A3_uc011kra.1_Missense_Mutation_p.V200A|SLC37A3_uc011krb.1_Missense_Mutation_p.V172A	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	200					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ATACTGAAGAACAGAAGAAGC	0.433000														124			8		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78217001	78217001	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:78217001C>T	uc022bzl.1	+	0	984	c.984C>T	c.(982-984)ctC>ctT	p.L328L	P2RY10_uc004ede.3_Silent_p.L328L|P2RY10_uc004edf.3_Silent_p.L328L	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCTCCCGCCTCATGAGCAAGG	0.438000														53			10		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78131015	78131015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:78131015C>T	uc003ugx.3	-	4	1098	c.844G>A	c.(844-846)Gag>Aag	p.E282K	MAGI2_uc003ugy.3_Missense_Mutation_p.E282K|MAGI2_uc011kgr.1_Missense_Mutation_p.E114K|MAGI2_uc011kgs.1_Missense_Mutation_p.E119K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	282	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCTTCAGCTCCTCAGGCTGA	0.488000														84			5		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328734	23328734	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:23328734C>T	uc002nrb.1	+	3		c.1087C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TTAACCAGTCCTCAAACCTTA	0.348000														56			4		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880585	200880585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200880585G>A	uc001gvo.3	+	8	1261	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C1orf106_uc010ppm.2_Missense_Mutation_p.D322N	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	407										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCAGGGTGGATTCCTTCCG	0.632000														267			24		0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156170037	156170037	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156170037C>T	uc009wrr.3	+	1	721	c.399C>T	c.(397-399)gtC>gtT	p.V133V	SLC25A44_uc001fnp.3_Silent_p.V133V|SLC25A44_uc010phc.2_Intron|SLC25A44_uc010phd.2_Intron|SLC25A44_uc010phe.2_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	Homo sapiens solute carrier family 25, member 44 (SLC25A44), mRNA.	133					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TTGATGTAGTCTCCCAGCACC	0.557000														71			5		0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049444	23049444	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23049444C>T	uc003xda.3	-	9	1276	c.1170G>A	c.(1168-1170)acG>acA	p.T390T		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	390	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCTCATTTTTCGTGAGGTCCA	0.522000														89			7		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649692	7649692	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7649692G>A	uc001qsz.3	-	4	944	c.816C>T	c.(814-816)gtC>gtT	p.V272V	CD163_uc001qta.3_Silent_p.V272V|CD163_uc009zfw.2_Silent_p.V272V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	272	SRCR 3.				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						AACATTCAGTGACTCCATCTA	0.473000														129			6		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39453094	39453094	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:39453094G>C	uc001uwv.3	+	22	9295	c.8986G>C	c.(8986-8988)Gac>Cac	p.D2996H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2996					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V2995V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTTAAAGTCGACTCAACACC	0.418000														90			5		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790184	248790184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248790184C>T	uc001ier.1	-	0	246	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82I(2)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTAGAAACCATGTCTGCCA	0.502000														25			6		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22382474	22382474	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22382474G>A	uc001mqk.3	+	4	1018	c.605G>A	c.(604-606)tGg>tAg	p.W202*		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	202					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CATGGGATATGGAGCAAATGG	0.478000														63			5		0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220088624	220088625	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:220088624_220088625CC>TT	uc002vke.1	-	8	1571_1572	c.1385_1386GG>AA	c.(1384-1386)cgg>cAA	p.R462Q	ATG9A_uc002vkd.1_Intron|ATG9A_uc002vkf.1_Missense_Mutation_p.R462Q	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	462					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAACTCGTCCCGGGTCTGCGA	0.614000														156			13		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926503	83926503	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:83926503C>T	uc002bjt.1	-	4	2764	c.2676G>A	c.(2674-2676)ggG>ggA	p.G892G	BNC1_uc010uos.1_Silent_p.G880G	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	892					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTTCACAGTTCCCATCACTGT	0.562000														113			6		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5045710	5045710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:5045710G>A	uc002gau.1	+	24	3961	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	USP6_uc002gav.1_Missense_Mutation_p.M577I|USP6_uc010ckz.1_Missense_Mutation_p.M260I	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	577					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCATTGGTATGAAGGGGCATA	0.423000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									75			9		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614248	36614248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:36614248G>A	uc021qge.1	-	0	1471	c.1471C>T	c.(1471-1473)Ccc>Tcc	p.P491S	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.P491S|RAG2_uc021qgd.1_Missense_Mutation_p.P491S|RAG2_uc001mwv.4_Missense_Mutation_p.P491S|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	491					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ACTCTTTGGGGAGTGTGTAGA	0.448000									Familial Hemophagocytic Lymphohistiocytosis					98			11		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644219	37644219	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:37644219G>A	uc002ofo.1	-	4	813	c.582C>T	c.(580-582)tcC>tcT	p.S194S	ZNF585A_uc002ofm.1_Silent_p.S139S|ZNF585A_uc002ofn.1_Silent_p.S139S	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAAAAAAGGATTTTCCAC	0.403000														94			13		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023914	31023914	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31023914C>T	uc021wbw.1	+	12	3831	c.3399C>T	c.(3397-3399)tcC>tcT	p.S1133S	ASXL1_uc002wxs.3_Silent_p.S1132S|ASXL1_uc010geb.3_Silent_p.S1024S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1133					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTCAGAATCCCCACAAGTAC	0.522000			"""F, N, Mis"""		"""MDS, CMML"""									71			5		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670765	95670765	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95670765G>A	uc001yef.2	-	8	1037	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	307						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AAGTGGATTCGATAGGAACTT	0.348000														52			7		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540173	111540173	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:111540173A>G	uc003kpv.1	-	14	1549	c.1275T>C	c.(1273-1275)aaT>aaC	p.N425N	EPB41L4A_uc003kpp.1_Silent_p.N52N	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	425						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACTGGGAGAATTGTAGAGTC	0.507000														78			6		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211158520	211158520	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211158520T>A	uc002vec.3	-	4	612	c.483A>T	c.(481-483)gaA>gaT	p.E161D	MYL1_uc002veb.3_Missense_Mutation_p.E117D	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	161	EF-hand 2.				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)		CTTTCATCTTTTCACCTGATG	0.438000														109			7		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233490	168233490	+	Missense_Mutation	SNP	A	T	T	rs140643965		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:168233490A>T	uc010jjg.3	-	8	1316	c.896T>A	c.(895-897)aTg>aAg	p.M299K	SLIT3_uc003mab.3_Missense_Mutation_p.M299K|SLIT3_uc010jji.2_Missense_Mutation_p.M299K|SLIT3_uc003mac.1_Missense_Mutation_p.M96K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	299	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGAATCTCCATCAAGCCCTT	0.582000														127			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370866	126370866	+	Missense_Mutation	SNP	C	T	T	rs139451014		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126370866C>T	uc003ifj.4	+	8	8695	c.8695C>T	c.(8695-8697)Cct>Tct	p.P2899S	FAT4_uc011cgp.2_Missense_Mutation_p.P1197S|FAT4_uc003ifi.1_Missense_Mutation_p.P377S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2899	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P2899S(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAACAGATCCTGATGAGGG	0.363000														99			7		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36491997	36491997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:36491997C>T	uc002hpz.3	-	4	1279	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	420						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)				AGGACAGTTTCCAGCAGGACC	0.552000														127			12		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172397	47172397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47172397G>A	uc001rpi.2	-	10	1279	c.880C>T	c.(880-882)Cct>Tct	p.P294S	SLC38A4_uc001rpj.2_Missense_Mutation_p.P294S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	294					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGCCCTGCAGGATTGCGGTGG	0.453000														63			5		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022096	107022096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:107022096C>T	uc001kyi.1	+	25	3678	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1151						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)		TAGGAAAATCCCTTGGATTAA	0.488000														66			6		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38027945	38027945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:38027945C>T	uc010efm.3	+	7	827	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	ZNF793_uc010xts.2_Missense_Mutation_p.L129F	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCACTGATCTTTTTTCTTC	0.383000														27			3		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123097505	123097505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123097505G>A	uc003vkn.3	-	11	2700	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	IQUB_uc011kny.2_Missense_Mutation_p.S41F|IQUB_uc003vko.3_Missense_Mutation_p.S708F|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	708										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTTCCAGGGGGACCACTCCAG	0.453000														198			7		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378008	19378008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:19378008C>T	uc010tkp.2	+	0	415	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGATCAGTACCTTGCTATCTG	0.438000														115			8		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269153	123269153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123269153C>T	uc003vku.1	+	9	1397	c.1105C>T	c.(1105-1107)Ctt>Ttt	p.L369F	ASB15_uc003vkw.1_Missense_Mutation_p.L369F	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	369					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CACAGAAGTCCTTCTGGCTGC	0.468000														97			6		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810344	123810344	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:123810344C>T	uc001pzk.1	+	0	21	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAAATCATTCCCAGGTGGCAG	0.418000														90			14		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094974	46094974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46094974C>T	uc002pcm.3	-	1	1096	c.151G>A	c.(151-153)Gag>Aag	p.E51K	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.E51K	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	51						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCCCAGCTCGTTGCGCTGT	0.617000														71			19		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520680	33520680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33520680G>A	uc002hjd.2	-	0	733	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	216						integral to membrane											GAGGCAGGGGGGAAAGTGCAG	0.642000														100			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064199	9064199	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9064199G>A	uc002mkp.3	-	2	23451	c.23247C>T	c.(23245-23247)acC>acT	p.T7749T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7751	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						TCTCATGGGAGGTGGTGCTCA	0.517000														152			19		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166764	19166764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:19166764C>T	uc001bba.1	-	5	1850	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	617					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.M616T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACCGGGACCACCATGTATGCC	0.612000														97			14		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45135121	45135121	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:45135121C>T	uc003com.3	-	5	1410	c.1275G>A	c.(1273-1275)agG>agA	p.R425R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	425	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTAGGATTTCCTTTGGCAGT	0.597000														272			18		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935675	94935675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94935675G>A	uc001ydf.3	-	1	718	c.557C>T	c.(556-558)cCc>cTc	p.P186L	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Missense_Mutation_p.P37L|SERPINA9_uc001ydg.3_Missense_Mutation_p.P150L|SERPINA9_uc001ydh.1_Missense_Mutation_p.P186L|SERPINA9_uc001ydi.1_Missense_Mutation_p.P150L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	168					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.P186T(1)|p.N185S(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGCAATGGAGGGGTTGGAGAA	0.498000														182			29		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113765467	113765467	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:113765467A>G	uc003eax.3	-	2	389	c.242T>C	c.(241-243)aTa>aCa	p.I81T	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Intron|KIAA1407_uc011bip.1_Missense_Mutation_p.I68T	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	81										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATGATCCTCTATTTGCTCAGA	0.373000														56			6		0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192127853	192127853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:192127853G>A	uc001gsg.3	+	0	262	c.86G>A	c.(85-87)gGa>gAa	p.G29E		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	29					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S28*(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATGGTTCAGGAAAAGAAGAA	0.279000														62			5		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339949	29339949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:29339949C>T	uc002kxa.2	-	0	895	c.676G>A	c.(676-678)Gga>Aga	p.G226R		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	226					transport	integral to membrane|mitochondrial inner membrane											CACAAGAATCCCAACATGGCA	0.448000														76			7		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59968924	59968924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:59968924G>A	uc002izn.3	-	13	1925	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*	INTS2_uc002izm.3_Nonsense_Mutation_p.Q609*	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	617					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTGACTGGCTGATTTGTGGCT	0.348000														165			12		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190014	59190014	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59190014G>C	uc010rkt.2	-	0	413	c.413C>G	c.(412-414)tCc>tGc	p.S138C		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AAGTGTATGGGATATGAGGAC	0.468000														40			5		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64337275	64337275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64337275C>T	uc001oai.3	+	8	1908	c.1534C>T	c.(1534-1536)Ctc>Ttc	p.L512F	SLC22A11_uc009ypq.3_Missense_Mutation_p.L404F	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	512					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCTGTTCTTCCTCCCGGAGAC	0.622000														148			10		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52661316	52661316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52661316G>A	uc003des.2	-	12	1526	c.1514C>T	c.(1513-1515)tCt>tTt	p.S505F	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.S505F|PBRM1_uc003der.2_Missense_Mutation_p.S473F|PBRM1_uc003det.2_Missense_Mutation_p.S505F|PBRM1_uc003deu.2_Missense_Mutation_p.S505F|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.S505F|PBRM1_uc010hmk.1_Missense_Mutation_p.S505F|PBRM1_uc003dey.2_Missense_Mutation_p.S505F|PBRM1_uc003dez.1_Missense_Mutation_p.S505F|PBRM1_uc003dfb.1_Missense_Mutation_p.S403F	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	505					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACCAGTATCAGAGGTGGCTGA	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									59			3		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876135	10876135	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:10876135G>A	uc003mzn.4	-	3	643	c.571C>T	c.(571-573)Cga>Tga	p.R191*	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	191					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCGGATTCTCGAATTCTCTTT	0.448000														78			8		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636842	142636842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142636842C>T	uc003wca.2	+	0	240	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	42						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AGAGAAAACGCCCTCTGCAGG	0.547000														48			3		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143092430	143092431	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143092430_143092431CC>TT	uc003wcz.3	-	11	2151_2152	c.2064_2065GG>AA	c.(2062-2067)ctggaa>ctAAaa	p.E689K		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	689	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACGACGCCTTCCAGATGCAGAA	0.545000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		669			43		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122623075	122623075	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:122623075C>T	uc001ubq.3	+	13	2469	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	MLXIP_uc001ubt.3_Silent_p.I394I	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	787	Leucine-zipper.				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)		GGGAGGAGATCGAGGAGCTCA	0.632000														23			6		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115751004	115751004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:115751004C>T	uc003ibu.3	-	12	3120	c.2441G>A	c.(2440-2442)gGa>gAa	p.G814E	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	814	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTTGTCTTTCCTCCTTCCAG	0.333000														60			5		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133418169	133418169	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:133418169T>A	uc001ulf.2	-	17	2050	c.1966A>T	c.(1966-1968)Atc>Ttc	p.I656F	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.I615F|CHFR_uc001ule.2_Missense_Mutation_p.I644F|CHFR_uc010tbs.1_Missense_Mutation_p.I655F|CHFR_uc010tbt.1_Missense_Mutation_p.I564F	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	656					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGTTCACAGATATGATTGAAT	0.418000														143			15		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164190	72164190	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72164190C>T	uc002fcc.4	-	11	1891	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	PMFBP1_uc002fcd.3_Silent_p.K568K|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Silent_p.K423K|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	573										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCCTCTTTTCCTTGTCTGAAT	0.473000														68			6		0	0	1	0	0
DNAJC25	548645	broad.mit.edu	37	9	114429186	114429186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:114429186C>T	uc004bfn.3	+	1	484	c.428C>T	c.(427-429)cCc>cTc	p.P143L	DNAJC25_uc004bfp.3_Missense_Mutation_p.P58L|DNAJC25_uc011lws.2_Missense_Mutation_p.P58L	NM_004125	NP_004116	Q9H1X3	DJC25_HUMAN	Homo sapiens DNAJC25-GNG10 readthrough (DNAJC25-GNG10), mRNA.	0					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GGAAGTAACCCCTTCCGGGAG	0.512000														32			15		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904176	129904176	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:129904176G>A	uc001lke.3	-	12	6123	c.5928C>T	c.(5926-5928)atC>atT	p.I1976I	MKI67_uc001lkf.3_Silent_p.I1616I|MKI67_uc009yav.1_Silent_p.I1551I|MKI67_uc009yaw.1_Silent_p.I1126I	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1976	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATACTTCTGTGATTTTGTCAT	0.473000														204			12		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15378342	15378342	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15378342T>C	uc002nar.3	-	3	666	c.444A>G	c.(442-444)ttA>ttG	p.L148L	BRD4_uc002nas.3_Silent_p.L148L|BRD4_uc002nat.3_Silent_p.L148L|BRD4_uc002nau.4_Silent_p.L148L	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	148					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTCTGCCATTAAGACTATGT	0.517000			T	C15orf55	lethal midline carcinoma of young people									141			10		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111482565	111482565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:111482565G>A	uc003iab.4	+	19	3067	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	909					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTTCTAGATGGAGAGCTTTTT	0.368000														40			3		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22398151	22398151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22398151C>T	uc001mqk.3	+	10	1759	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	449					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATGGGCATTTCGAATGGTGTT	0.383000														78			11		0	0	1	0	0
AIF1L	83543	broad.mit.edu	37	9	133993169	133993169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:133993169G>A	uc004cab.2	+	4	383	c.229G>A	c.(229-231)Gag>Aag	p.E77K	AIF1L_uc004cad.2_Missense_Mutation_p.E103K|AIF1L_uc004cae.2_Missense_Mutation_p.E77K|AIF1L_uc004cac.2_Non-coding_Transcript|AIF1L_uc011mce.1_Missense_Mutation_p.E82K	NM_031426	NP_113614	Q9BQI0	AIF1L_HUMAN	Homo sapiens allograft inflammatory factor 1-like (AIF1L), transcript variant 1, mRNA.	77	EF-hand 1.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						GAGGATGATGGAGAAGCTTGG	0.517000														71			15		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621349	7621349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7621349C>T	uc010xjq.2	+	26	3374	c.3134C>T	c.(3133-3135)tCg>tTg	p.S1045L	PNPLA6_uc002mgq.2_Missense_Mutation_p.S997L|PNPLA6_uc010xjp.2_Missense_Mutation_p.S970L|PNPLA6_uc002mgr.2_Missense_Mutation_p.S997L|PNPLA6_uc002mgs.3_Missense_Mutation_p.S1035L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1036	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCATGACTTCGGTGCTGGAA	0.532000														337			29		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70775855	70775855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:70775855C>T	uc004eaa.2	+	7	1214	c.976C>T	c.(976-978)Cat>Tat	p.H326Y	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.H316Y|OGT_uc004eac.3_Missense_Mutation_p.H187Y|OGT_uc004ead.3_5'UTR	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	326					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTGTCCCACCCATGCAGACTC	0.408000														90			17		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719559	162719559	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:162719559C>T	uc002ubx.4	+	5	937	c.753C>T	c.(751-753)tcC>tcT	p.S251S	SLC4A10_uc010fpa.1_Silent_p.S263S|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.S262S|SLC4A10_uc002uby.4_Silent_p.S251S	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	251					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACCAAATTCCATGGACAAAA	0.338000														49			3		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98220343	98220343	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:98220343G>A	uc004avk.4	-	17	3308	c.3120C>T	c.(3118-3120)ttC>ttT	p.F1040F	PTCH1_uc010mro.3_Silent_p.F889F|PTCH1_uc010mrp.3_Silent_p.F889F|PTCH1_uc010mrq.3_Silent_p.F889F|PTCH1_uc004avl.4_Silent_p.F889F|PTCH1_uc004avm.4_Silent_p.F1039F|PTCH1_uc010mrr.3_Silent_p.F974F	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1040					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L1041fs*104(2)|p.I963fs*2(1)|p.L1040fs*104(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGCACACGAGGAATGTGCAGG	0.552000														72			14		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654684	35654684	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35654684C>T	uc003jjo.3	+	6	945	c.834C>T	c.(832-834)acC>acT	p.T278T	SPEF2_uc003jjn.1_Silent_p.T278T|SPEF2_uc003jjq.4_Silent_p.T278T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	278					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGACAACCACCGATTTGTTAA	0.368000														56			7		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683576	27683576	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:27683576G>A	uc001bny.1	-	23	3537	c.3288C>T	c.(3286-3288)atC>atT	p.I1096I	MAP3K6_uc009vsw.1_Silent_p.I1088I	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	1096					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGTGTGGACGGATCTGGCGCT	0.642000														87			12		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138235855	138235855	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138235855C>T	uc003vuc.3	+	7	1406	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	TRIM24_uc003vub.3_Silent_p.S397S|TRIM24_uc022amn.1_Silent_p.S355S	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	397					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GTGATGCATCCCCAGTGACCA	0.403000														90			11		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134281	27134281	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:27134281G>A	uc003sye.3	-	1	880	c.786C>T	c.(784-786)atC>atT	p.I262I	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	262						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGATGCAGCGATCTCCACCC	0.562000														135			15		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841627	70841627	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70841627G>A	uc002ezr.3	-	85	15370	c.15219C>T	c.(15217-15219)atC>atT	p.I5073I	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5074										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)				TGATGTTGTTGATCTTCTTGG	0.522000														115			14		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18192971	18192971	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18192971G>A	uc002nhx.1	-	3	399	c.348C>T	c.(346-348)ttC>ttT	p.F116F	IL12RB1_uc002nhw.1_Silent_p.F76F|IL12RB1_uc010xqb.1_Silent_p.F76F|IL12RB1_uc002nhy.3_Silent_p.F76F	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	76	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AACACCGCAGGAAGTGGCTGA	0.602000														47			6		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368830	40368830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40368830C>T	uc002omp.4	-	27	12526	c.12518G>A	c.(12517-12519)cGg>cAg	p.R4173Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4173	VWFD 10.					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)			CACTGAAATCCGCCCGTCGGC	0.622000														327			31		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111188	81111188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81111188C>T	uc001szg.2	+	0	481	c.346C>T	c.(346-348)Cag>Tag	p.Q116*		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	116	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CAACCCCAACCAGAGGCTGCC	0.592000														118			8		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161771215	161771215	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161771215C>T	uc021zhu.1	-	12	1546	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Silent_p.Q247Q|PARK2_uc003qtx.4_Silent_p.Q438Q|PARK2_uc021zhs.1_Silent_p.Q360Q|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.Q410Q|PARK2_uc003qtz.4_Silent_p.Q289Q|PARK2_uc021zhv.1_Silent_p.Q359Q|PARK2_uc021zhw.1_Silent_p.Q247Q|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.Q388Q|PARK2_uc011egf.2_Silent_p.Q112Q	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	438					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGCACTGGGGCTGCGGACACT	0.617000														34			6		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815553	56815553	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:56815553A>G	uc001slf.2	-	21	2851	c.2683T>C	c.(2683-2685)Ttg>Ctg	p.L895L		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	895					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCAGCTCCAACTCCTGATCC	0.507000														155			14		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650684	232650684	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:232650684G>A	uc001hvg.3	-	0	560	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	134					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCCTCCACGAAGTCCAGAT	0.502000														138			7		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152755059	152755059	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152755059C>T	uc021zhb.1	-	31	4555	c.4332G>A	c.(4330-4332)gtG>gtA	p.V1444V	SYNE1_uc003qot.4_Silent_p.V1451V|SYNE1_uc003qou.4_Silent_p.V1444V|SYNE1_uc010kjb.1_Silent_p.V1427V|SYNE1_uc003qow.3_Silent_p.V739V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1444					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)		ACTTGGTTTTCACCATTTCCA	0.338000										HNSCC(10;0.0054)				13			4		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49323748	49323748	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49323748C>T	uc003cwq.2	-	15	2062	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	USP4_uc003cwp.2_Silent_p.E391E|USP4_uc003cwr.2_Silent_p.E614E	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	661					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCATTTCTTCCTCATCTTCTC	0.383000														39			4		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587615	247587615	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247587615C>T	uc001icr.3	+	4	1008	c.870C>T	c.(868-870)atC>atT	p.I290I	NLRP3_uc001ics.3_Silent_p.I290I|NLRP3_uc001icu.3_Silent_p.I290I|NLRP3_uc001icw.3_Silent_p.I290I|NLRP3_uc001icv.3_Silent_p.I290I|NLRP3_uc010pyw.2_Silent_p.I288I|NLRP3_uc001ict.1_Silent_p.I288I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	290	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCACAAGATCGTGAGAAAAC	0.562000														108			5		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174368	51174368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174368C>T	uc021tif.1	-	1	1796	c.1474G>A	c.(1474-1476)Ggc>Agc	p.G492S	SALL1_uc021tid.1_Missense_Mutation_p.G492S|SALL1_uc021tie.1_Missense_Mutation_p.G589S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	589					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)			TTGACTGAGCCTGGGGGGCTG	0.637000														63			7		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976369	121976369	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	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														59			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812573	140812573	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140812573C>T	uc003lkt.2	+	0	2416	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.F749F	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	759					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)			TGCAGGCTTTCCTGCAGACCT	0.637000														166			11		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746658	77746658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:77746658C>T	uc002snr.3	-	2	752	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	LRRTM4_uc002snq.3_Missense_Mutation_p.E113K|LRRTM4_uc002sns.2_Missense_Mutation_p.E113K|LRRTM4_uc002snt.2_Missense_Mutation_p.E114K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	113						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGAATTAATTCTTTCAGTCTA	0.393000														25			6		0	0	1	0	0
TACO1	51204	broad.mit.edu	37	17	61685284	61685285	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:61685284_61685285CC>TT	uc002jbd.3	+	4	1028_1029	c.816_817CC>TT	c.(814-819)gacctg>gaTTtg	p.272_273DL>DL		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	Homo sapiens translational activator of mitochondrially encoded cytochrome c oxidase I (TACO1), nuclear gene encoding mitochondrial protein, mRNA.	272					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						CTGAGCCCGACCTGGAACAGGC	0.545000														99			7		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183823664	183823664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:183823664C>T	uc010hxr.3	+	4	1104	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	HTR3E_uc010hxq.3_Missense_Mutation_p.R278C|HTR3E_uc003fml.4_Missense_Mutation_p.R263C|HTR3E_uc003fmm.3_Missense_Mutation_p.R293C|HTR3E_uc003fmn.3_Missense_Mutation_p.R278C	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	278						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AAGTGGGAATCGTGTCCCATT	0.557000														166			20		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587405	101587405	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101587405C>T	uc001thz.4	-	4	1080	c.690G>A	c.(688-690)tgG>tgA	p.W230*		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	230					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACACTTACTTCCAGAAATTTA	0.338000														134			12		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100470360	100470360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100470360G>A	uc003huy.3	-	7	1218	c.905C>T	c.(904-906)tCg>tTg	p.S302L	RG9MTD2_uc003huz.4_Missense_Mutation_p.S302L|RG9MTD2_uc003hva.4_Missense_Mutation_p.S302L	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	302							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		ATCACTGTCCGATCCACCTTC	0.443000														116			11		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420028	8420028	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:8420028G>A	uc001ape.3	-	19	4224	c.3414C>T	c.(3412-3414)gaC>gaT	p.D1138D	RERE_uc001apf.3_Silent_p.D1138D|RERE_uc001apd.3_Silent_p.D584D	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1138					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGTAGCCCCGGTCCAGGTGTT	0.617000														103			14		0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964460	15964460	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:15964460T>A	uc003gon.3	-	0	400	c.293A>T	c.(292-294)gAg>gTg	p.E98V	FGFBP2_uc021xmm.1_Missense_Mutation_p.E98V	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	98						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCCTCAGCTCCTGCAGGGC	0.627000														39			7		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178942523	178942523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:178942523G>A	uc003fjk.3	+	15	2487	c.2330G>A	c.(2329-2331)aGg>aAg	p.R777K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	777					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R777M(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCTGCAAAAAGGCCACTGTGG	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				57			6		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1313163	1313163	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:1313163G>A	uc009xhq.3	-	3	1505	c.1179C>T	c.(1177-1179)atC>atT	p.I393I		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	393					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)		TGGTCATGACGATTCCTGCCA	0.532000														21			4		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718559	42718559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:42718559G>A	uc021xxv.1	+	9	1108	c.971G>A	c.(970-972)gGa>gAa	p.G324E	GHR_uc003jmt.3_Missense_Mutation_p.G317E|GHR_uc003jmu.3_Missense_Mutation_p.G317E|GHR_uc003jmv.2_Missense_Mutation_p.G317E|GHR_uc021xxw.1_Missense_Mutation_p.G317E|GHR_uc021xxx.1_Missense_Mutation_p.G317E|GHR_uc021xxy.1_Missense_Mutation_p.G317E|GHR_uc021xxz.1_Missense_Mutation_p.G317E|GHR_uc021xya.1_Missense_Mutation_p.G317E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_Missense_Mutation_p.E294K|GHR_uc011cpq.2_Missense_Mutation_p.G130E|GHR_uc021xyd.1_Missense_Mutation_p.G295E	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	317					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCTAGGAAGGAAAATTAGAG	0.299000														129			8		0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100649877	100649877	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:100649877G>A	uc009ztv.1	-	3	831	c.828C>T	c.(826-828)atC>atT	p.I276I	DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Silent_p.I276I|DEPDC4_uc001thj.1_Silent_p.I222I|DEPDC4_uc001thk.1_Silent_p.I87I|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	276					intracellular signal transduction			p.I276I(2)|p.V275F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAGTGTTAGTGATAACAAGAT	0.333000														82			5		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567889	223567889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:223567889C>T	uc001hoa.2	+	0	1175	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	358										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAGCCCGCGCCAGGAGAAGCT	0.692000														14			3		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123779751	123779751	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:123779751G>A	uc004bkv.3	-	13	1785	c.1755C>T	c.(1753-1755)ggC>ggT	p.G585G	C5_uc010mvm.1_Silent_p.G585G|C5_uc010mvn.1_Silent_p.G585G	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	585					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACACAGTTTGGCCTGGAGAAT	0.418000														44			8		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113146154	113146154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:113146154C>T	uc003ead.2	-	2	200	c.133G>A	c.(133-135)Gat>Aat	p.D45N	WDR52_uc003eae.2_Missense_Mutation_p.D45N	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	45										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCTGTGTCATCTTCTAAAAAT	0.299000														28			3		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52817097	52817097	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52817097T>C	uc003dfs.3	+	8	1085	c.1055T>C	c.(1054-1056)cTa>cCa	p.L352P	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.L210P|ITIH1_uc021wzg.1_Missense_Mutation_p.L64P|ITIH1_uc021wzh.1_Missense_Mutation_p.L64P|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	352	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGGCCAACCTACAAGCAGCT	0.562000														63			5		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803035	54803035	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54803035G>A	uc002qfd.3	-	3	734	c.642C>T	c.(640-642)ctC>ctT	p.L214L	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	213	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAGCCCCAGGAGATCACTGG	0.617000														140			25		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950548	38950548	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38950548C>T	uc021wvy.1	-	8	1438	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	413					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGCCTCTATCTCTGCAGCTA	0.488000														112			17		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323769	107323769	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107323769C>T	uc003vep.3	+	6	1112	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	296					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.I296I(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						GACACAAAATCCCAGTCCCTA	0.353000									Pendred syndrome					111			6		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411211	5411211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5411211G>A	uc010qzc.2	+	0	605	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	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.	195						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)		CCTGCACCAGGAAGTGATACA	0.517000														117			13		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141732659	141732659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141732659C>T	uc003vwy.3	+	13	1673	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	540	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTGATGGTTCGGTCTCAGGA	0.368000														25			3		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511257	58511257	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:58511257G>A	uc002iyr.1	-	0		c.2101C>T								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		CAAGGTTGACGATCTCATCAA	0.473000														57			3		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139819010	139819010	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139819010C>T	uc003vvm.3	-	8	1153	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	383	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTTTCTCCATCTCATAACACC	0.313000														102			13		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7092468	7092468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7092468C>T	uc001mfb.1	+	11	3534	c.3211C>T	c.(3211-3213)Cca>Tca	p.P1071S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1071					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTTAGCAATCCACACTTAAT	0.403000														65			11		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720901	95720901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:95720901G>A	uc009xuj.2	-	0	772	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GTCTTGAAACGAAAGGCATTG	0.498000														125			10		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190193	209190193	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:209190193C>T	uc002vcz.3	+	19	2816	c.2658C>T	c.(2656-2658)aaC>aaT	p.N886N	PIKFYVE_uc010fun.1_Silent_p.N567N|PIKFYVE_uc002vcy.1_Silent_p.N830N	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	886					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAATGCAAAACCCTTCATTCC	0.468000														65			7		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33984729	33984729	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33984729C>T	uc002hjr.3	+	13	2097	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L	AP2B1_uc002hjq.3_Silent_p.L636L|AP2B1_uc010wci.2_Silent_p.L598L|AP2B1_uc002hjs.3_Silent_p.L579L|AP2B1_uc002hjt.3_Silent_p.L636L|AP2B1_uc010ctv.3_Silent_p.L636L|AP2B1_uc010wcj.2_Silent_p.L373L	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	636	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCTTGACCTCGGTCCCCCAG	0.527000														108			9		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579382	82579382	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82579382T>C	uc003uhx.2	-	5	10811	c.10522A>G	c.(10522-10524)Aaa>Gaa	p.K3508E	PCLO_uc003uhv.2_Missense_Mutation_p.K3508E|PCLO_uc010lec.3_Missense_Mutation_p.K473E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3439					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						GAAAGGGGTTTGGTCTTGTCA	0.473000														37			6		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023945	76023945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:76023945C>T	uc010kbe.3	-	5	2142	c.1612G>A	c.(1612-1614)Gtg>Atg	p.V538M	FILIP1_uc003phy.1_Missense_Mutation_p.V535M|FILIP1_uc003phz.3_Missense_Mutation_p.V436M|FILIP1_uc003pia.3_Missense_Mutation_p.V535M|FILIP1_uc003pib.1_Missense_Mutation_p.V287M	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	535										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTTGTTCCACCTTAAAATTT	0.294000														23			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993283	140993283	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:140993283C>T	uc004fbt.3	+	3	417	c.93C>T	c.(91-93)tcC>tcT	p.S31S	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	31							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGACTCCCAGTCTCCTC	0.582000										HNSCC(15;0.026)				71			12		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39496021	39496021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:39496021C>T	uc003xni.3	+	9	920	c.865C>T	c.(865-867)Cct>Tct	p.P289S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P265S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	289	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P289S(2)|p.P289F(2)|p.P289L(1)		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)			AGCAACATTTCCTGGCACTGT	0.274000														47			3		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801031	42801031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:42801031C>T	uc011cps.2	-	5	1125	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.G313R|SEPP1_uc011cpu.2_Missense_Mutation_p.G313R|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	313					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATTGCAGACCCTGTTTTTTCA	0.433000														98			4		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394618	233394618	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233394618G>A	uc001hvl.2	-	4	1225	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	330						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTACCTGACAGGATGTGTCTG	0.557000														74			4		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299509	125299509	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:125299509G>A	uc004euk.2	-	0	572	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	133								p.R132L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCATGAGGGGGATGCGCGTGA	0.642000														63			11		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87082366	87082366	+	Nonsense_Mutation	SNP	G	A	A	rs72552780		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87082366G>A	uc003uiv.1	-	5	506	c.430C>T	c.(430-432)Cga>Tga	p.R144*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.R144*|ABCB4_uc003uix.1_Nonsense_Mutation_p.R144*|ABCB4_uc003uiy.3_Nonsense_Mutation_p.R144*	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	144	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGATCTGTCGACCAGCTGCC	0.408000														74			9		0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95826438	95826438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:95826438G>A	uc001pfw.1	-	1	2042	c.757C>T	c.(757-759)Cct>Tct	p.P253S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	253					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)				CCATTGCCAGGAGAATGTGTA	0.478000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									55			5		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555239	44555239	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44555239G>A	uc010xdb.2	-	0	1211	c.975C>T	c.(973-975)ggC>ggT	p.G325G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	325	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.S324S(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CAGGCCTGGAGCCCGAGTACA	0.672000														301			8		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3937374	3937374	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3937374G>A	uc002fxe.3	-	39	6583	c.6519C>T	c.(6517-6519)tcC>tcT	p.S2173S	ZZEF1_uc002fxh.3_Silent_p.S487S|ZZEF1_uc002fxi.3_Silent_p.S408S|ZZEF1_uc002fxj.1_Silent_p.S786S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2173							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGGCACAATGGAACTGTCCC	0.552000														230			29		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188459	98188459	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:98188459C>T	uc003dsm.3	+	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAGTTTATCCTCACAGGAT	0.398000														66			6		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72047535	72047535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:72047535G>A	uc004ahh.2	-	11	2635	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	787	PDZ 2.				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						TCAATGATCCGGTGCCCCACA	0.582000														88			14		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517261	65517261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:65517261G>A	uc003xvj.2	-	4	1415	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	404					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAAGATTTCAGGGTCACCATG	0.473000														98			5		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36547238	36547239	+	Splice_Site	DNP	GG	AT	AT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36547238_36547239GG>AT	uc003cgh.1	+	8	871	c.832_splice	c.e8-1	p.G278_splice	STAC_uc010hgd.1_Splice_Site|STAC_uc011aya.1_Splice_Site_p.G217_splice	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	278					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						tctctttcAGGGATCTCTTTCC	0.337000														26			5		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499527	103499528	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:103499527_103499528CC>TT	uc004ely.3	-	0	72_73	c.3_4GG>AA	c.(1-6)atggag>atAAag	p.1_2ME>IK		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	1					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CGAAGAGACTCCATGCTTCAAG	0.589000														143			32		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5456813	5456813	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:5456813G>A	uc002gci.3	-	4	2976	c.2421C>T	c.(2419-2421)acC>acT	p.T807T	NLRP1_uc002gcg.1_Silent_p.T807T|NLRP1_uc002gch.4_Silent_p.T807T|NLRP1_uc002gck.3_Silent_p.T807T|NLRP1_uc002gcj.3_Silent_p.T807T|NLRP1_uc002gcl.3_Silent_p.T807T|NLRP1_uc010clh.3_Silent_p.T807T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	807					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCAGGTTTCTGGTGACCTTGA	0.547000														54			4		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457393	21457393	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:21457393A>G	uc001rer.3	-	4	808	c.557T>C	c.(556-558)tTt>tCt	p.F186S	SLCO1A2_uc010siq.2_Missense_Mutation_p.F54S|SLCO1A2_uc001res.3_Missense_Mutation_p.F186S|SLCO1A2_uc010sio.2_Missense_Mutation_p.F54S|SLCO1A2_uc010sip.2_Missense_Mutation_p.F54S|SLCO1A2_uc001ret.3_Missense_Mutation_p.F184S|SLCO1A2_uc001reu.2_Missense_Mutation_p.F166S	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	186					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAATTTGGCAAAATCTTCTAT	0.353000														52			3		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566304	138566304	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138566304G>A	uc011kql.2	-	10	4108	c.4059C>T	c.(4057-4059)ttC>ttT	p.F1353F	KIAA1549_uc011kqi.2_Silent_p.F137F|KIAA1549_uc011kqk.2_Silent_p.F137F|KIAA1549_uc011kqj.2_Silent_p.F1353F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1353						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAGCAAAATCGAAGCCCTTCA	0.488000			O	BRAF	pilocytic astrocytoma									24			4		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419612	53419612	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:53419612G>A	uc001vhi.3	-	1	2991	c.2787C>T	c.(2785-2787)tcC>tcT	p.S929S	PCDH8_uc001vhj.3_Silent_p.S832S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	929					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGCTGATGTCGGAATCGCTGT	0.522000														105			11		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468631	56468631	+	Silent	SNP	G	A	A	rs141688594	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:56468631G>A	uc021wzo.1	-	0	545	c.405C>T	c.(403-405)gtC>gtT	p.V135V	ERC2_uc003dhr.1_Silent_p.V135V	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	135						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)		ACATGGAGGGGACCTGGTGGT	0.507000														146			15		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468048	74468048	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:74468048C>T	uc002axg.1	+	1	1131	c.849C>T	c.(847-849)ccC>ccT	p.P283P	ISLR_uc002axh.1_Silent_p.P283P|ISLR_uc021sqf.1_Silent_p.P283P	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	283	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCACCAGCCCCAACGTGGGCA	0.637000														188			14		0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4088262	4088262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4088262G>A	uc002fxn.3	-	11	1793	c.1676C>T	c.(1675-1677)cCa>cTa	p.P559L	ANKFY1_uc002fxo.3_Missense_Mutation_p.P517L|ANKFY1_uc002fxp.3_Missense_Mutation_p.P516L|ANKFY1_uc010ckp.3_Missense_Mutation_p.P458L|ANKFY1_uc002fxq.1_Missense_Mutation_p.P517L	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	517						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTGCAGGTTTGGGTTGGCGCC	0.627000														87			8		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912840	94912840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94912840C>T	uc001ydd.1	-	2	805	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	249					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A248V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGTGCATTTCCTTTTGGTGC	0.527000														91			9		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27399008	27399008	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27399008C>T	uc003xfu.3	+	15	1479	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	EPHX2_uc010luv.3_Silent_p.Y400Y|EPHX2_uc003xfv.3_Silent_p.Y413Y|EPHX2_uc010luw.3_Silent_p.Y400Y	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	466	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TAAACTGGTACCGAAACATGG	0.537000														92			8		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236751	42236751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42236751G>A	uc003ose.2	-	4	1141	c.578C>T	c.(577-579)cCa>cTa	p.P193L	TRERF1_uc011duq.1_Missense_Mutation_p.P193L|TRERF1_uc003osb.2_Missense_Mutation_p.P32L|TRERF1_uc003osc.2_Missense_Mutation_p.P32L|TRERF1_uc003osd.2_Missense_Mutation_p.P193L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	193					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P192L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCCGGTGCTGGGGGCTCCAT	0.622000														71			13		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104080213	104080213	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:104080213T>A	uc003hxb.1	-	21	2645	c.2555A>T	c.(2554-2556)aAa>aTa	p.K852I	CENPE_uc003hxc.1_Missense_Mutation_p.K827I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	852					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGGGCTTCTTTAGAGAGATT	0.378000														35			4		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24346135	24346135	+	RNA	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:24346135T>G	uc010edb.1	-	0		c.115A>C								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		AGTGGCAGGGTAGCGTGATAG	0.488000														9			3		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154996433	154996433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:154996433C>T	uc001fgm.3	-	11	1825	c.1745G>A	c.(1744-1746)tGc>tAc	p.C582Y	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	582						integral to membrane		p.R581W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGCAGGGGCACCTGAGAAA	0.592000														25			3		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562747	29562747	+	Missense_Mutation	SNP	G	A	A	rs137854556		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:29562747G>A	uc002hgg.3	+	27	4210	c.3827G>A	c.(3826-3828)cGa>cAa	p.R1276Q	NF1_uc002hgh.3_Missense_Mutation_p.R1276Q|NF1_uc010csn.2_Missense_Mutation_p.R1136Q|NF1_uc002hgi.1_Missense_Mutation_p.R309Q	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1276	Ras-GAP.		R -> G (in NF1).|R -> P (in NF1; complete loss of GAP activity).|R -> Q (in NF1 and mismatch repair deficient cancer cells).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.R1276Q(4)|p.R1276*(3)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTCTCTTCCGAGGCAACAGC	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				174			14		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217378	150217378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150217378G>A	uc003whk.3	+	1	446	c.316G>A	c.(316-318)Gag>Aag	p.E106K	GIMAP7_uc022apu.1_Missense_Mutation_p.E106K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	106							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)		CCGCTACACAGAGGAGGAGCA	0.547000														74			5		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518169	233518169	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233518169C>T	uc001hvt.4	+	9	3084	c.2823C>T	c.(2821-2823)atC>atT	p.I941I	KIAA1804_uc001hvu.4_Silent_p.I387I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	941					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CTGTCCACATCGTGCCTCAGC	0.612000														95			13		0	0	1	0	0
GAR1	54433	broad.mit.edu	37	4	110745161	110745161	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:110745161C>T	uc003hzt.3	+	5	919	c.612C>T	c.(610-612)ttC>ttT	p.F204F	GAR1_uc003hzu.3_Silent_p.F204F|GAR1_uc010imi.3_Silent_p.F186F	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA.	204	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	Cajal body|box H/ACA snoRNP complex	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GTGGGGGCTTCAGAGGAGGAA	0.313000														140			8		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54337720	54337720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:54337720C>T	uc004dtc.2	-	2	981	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	WNK3_uc004dtd.2_Missense_Mutation_p.R181Q	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	181	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTTAACTTTCGGTCCTGAAA	0.378000														21			4		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826330	143826330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143826330G>A	uc011kua.2	+	0	125	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTGGGGAATGGGGTCATCTTT	0.502000														174			19		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5172912G>A	uc010qyy.2	-	0	688	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		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)		TGGGGCAAACGAAAAACTGTG	0.423000														99			7		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890453	215890453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:215890453G>A	uc002vew.3	-	10	1451	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	ABCA12_uc002vev.3_Missense_Mutation_p.R93C|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	411					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAACCATTGCGAAGAAAAGAT	0.313000														58			3		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76830114	76830114	+	Silent	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76830114G>T	uc009yup.3	+	9	1511	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	CAPN5_uc001oxx.3_Silent_p.L402L|CAPN5_uc009yuq.3_Silent_p.L438L|CAPN5_uc001oxy.3_Silent_p.L442L|CAPN5_uc001oya.3_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	402	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ATGAAGTCCTGATCTGCATCC	0.577000														37			3		1	1	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41385037	41385037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:41385037G>A	uc002yyq.1	-	32	6415	c.5963C>T	c.(5962-5964)tCc>tTc	p.S1988F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1988				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S1988F(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATTCTTGGGAGCTGCTCAT	0.562000														52			10		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324309	158324309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158324309G>A	uc001fse.3	+	1	494	c.201G>A	c.(199-201)tgG>tgA	p.W67*	CD1E_uc010pid.2_Nonsense_Mutation_p.W65*|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsf.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsk.3_Nonsense_Mutation_p.W67*|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Nonsense_Mutation_p.W67*|CD1E_uc001frz.3_Nonsense_Mutation_p.W67*|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	67					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTCATGGCTGGGACACTGTCT	0.542000														65			5		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188446	37188446	+	RNA	SNP	G	A	A	rs35288784		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37188446G>A	uc002hrd.1	+	0		c.2288G>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AAACCTGACTGAAGTCACAGG	0.478000														147			7		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150553935	150553935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150553935G>A	uc003why.1	+	2	4595	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	ABP1_uc003whz.1_Missense_Mutation_p.R126Q|ABP1_uc003wia.1_Missense_Mutation_p.R126Q	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	126					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGCTACATGCGAGCACTGTCC	0.637000														87			7		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21390383	21390383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21390383G>A	uc002kuq.3	+	12	1743	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R	LAMA3_uc002kur.3_Missense_Mutation_p.G553R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	553	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAGTGACTGGACAGTGTGA	0.542000														101			9		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626362	80626362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:80626362C>T	uc003pja.4	-	5	1227	c.908G>A	c.(907-909)gGa>gAa	p.G303E	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	303					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CTGCTTTTTTCCATTTTCTAT	0.343000														45			5		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810754	123810754	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:123810754T>C	uc001pzk.1	+	0	431	c.431T>C	c.(430-432)cTt>cCt	p.L144P		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGTGCACTCCTTATGGCAGCC	0.517000														75			5		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794908	55794908	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55794908T>A	uc010spl.2	+	0	596	c.596T>A	c.(595-597)tTg>tAg	p.L199*		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGGCATTTTTGCTAGCAGTA	0.438000														224			16		0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111274599	111274599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:111274599C>T	uc001vrc.3	+	1	228	c.137C>T	c.(136-138)tCg>tTg	p.S46L	CARKD_uc010tji.2_Missense_Mutation_p.S28L|CARKD_uc010tjj.2_Missense_Mutation_p.S28L|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Intron|CARKD_uc010tjl.2_Intron|CARKD_uc001vrb.3_Missense_Mutation_p.S46L	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	46										NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AAAGCACATTCGATAAAGGAT	0.363000														29			6		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905201	153905201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:153905201G>A	uc001fdd.1	-	22	4077	c.3676C>T	c.(3676-3678)Cct>Tct	p.P1226S		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1226								p.P1114S(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACCACCAGGGACAGGAGCA	0.622000														71			8		0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748367	102748367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:102748367G>A	uc001ksf.2	+	0	1075	c.400G>A	c.(400-402)Gat>Aat	p.D134N	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_Missense_Mutation_p.D134N|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.	134					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)		GGGGCGAGGGGATGGGGCCAG	0.592000														265			23		0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9922061	9922061	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9922061G>A	uc002mme.3	-	2	734	c.492C>T	c.(490-492)ttC>ttT	p.F164F	FBXL12_uc002mmd.3_Silent_p.F111F|FBXL12_uc002mmf.3_Silent_p.F111F|FBXL12_uc002mmg.3_Silent_p.F111F	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	164							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCTCGTCACGGAAGGCGGGGA	0.672000														60			8		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178563038	178563038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:178563038C>T	uc003mjw.3	-	12	2059	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	653	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGCATCTCTCCTTGGCTGGA	0.602000														163			16		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704528	52704528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52704528C>T	uc001cto.3	+	3	1611	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	ZFYVE9_uc001ctn.3_Missense_Mutation_p.S480F|ZFYVE9_uc001ctp.3_Missense_Mutation_p.S480F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	480					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.D479E(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGTTGTGATTCCTATGGAATG	0.363000														73			8		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798166	55798166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55798166G>A	uc010riw.2	+	0	272	c.272G>A	c.(271-273)aGc>aAc	p.S91N		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCCAGGAAAAGCATCTCTCCT	0.423000														44			6		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692167	69692167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:69692167G>A	uc003hee.3	+	3	1064	c.1039G>A	c.(1039-1041)Ggt>Agt	p.G347S	UGT2B10_uc011cam.2_Missense_Mutation_p.G263S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	347					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGATGCCTTAGGTCTCAATAC	0.378000														89			9		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239753	125239753	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125239753G>A	uc011lyu.2	-	0	453	c.453C>T	c.(451-453)atC>atT	p.I151I	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACGCACAAGCGATGACCCAGG	0.542000														22			4		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707456	137707456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:137707456C>T	uc004cfe.3	+	50	4431	c.4049C>T	c.(4048-4050)cCc>cTc	p.P1350L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1350	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTGGCCCCCCCGGAGAGCCT	0.627000														20			5		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	96997851	96997851	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96997851A>C	uc001kkh.3	-	6	930	c.821T>G	c.(820-822)cTg>cGg	p.L274R		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	274	LIM zinc-binding.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACGGTCCCGCAGCTTCACAAA	0.547000														32			3		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64453331	64453331	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64453331C>T	uc021qkw.1	-	5	1401	c.939G>A	c.(937-939)gaG>gaA	p.E313E	NRXN2_uc021qkx.1_Silent_p.E289E|NRXN2_uc001oas.3_Silent_p.E289E|NRXN2_uc001oaq.3_5'UTR	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	313	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGTGTGATCTCATCAGTGC	0.572000														138			12		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121209031	121209031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121209031G>A	uc003eee.4	-	15	2876	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	POLQ_uc003eed.3_Missense_Mutation_p.S88F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	916					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTTACTTCGGACTCACTATG	0.348000								DNA polymerases (catalytic subunits)						88			19		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626095	140626095	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140626095C>A	uc003lje.3	+	0	949	c.949C>A	c.(949-951)Cta>Ata	p.L317I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	317	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGTATGATCTAGATATAGA	0.408000														170			14		2.23348e-06	2.25121e-06	1	1	0
POFUT1	23509	broad.mit.edu	37	20	30804488	30804488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:30804488C>T	uc002wxp.3	+	3	555	c.506C>T	c.(505-507)tCc>tTc	p.S169F	POFUT1_uc002wxo.3_Missense_Mutation_p.S169F|POFUT1_uc010ztt.2_Missense_Mutation_p.S61F|POFUT1_uc010ztu.2_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	169					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGGCATTTCCTTCAGTGCT	0.507000														101			5		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433431	72433431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:72433431C>T	uc004ebi.3	-	0	1280	c.898G>A	c.(898-900)Gag>Aag	p.E300K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	300					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)					GTCAACAACTCATTTTTGAAA	0.413000														50			7		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324822	150324822	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150324822C>T	uc022apv.1	-	2	1554	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	GIMAP6_uc003whn.3_Silent_p.G288G|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	288							GTP binding	p.G288G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTCAGCCTTCCCCAGCAGGC	0.582000														118			4		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869526	4869526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4869526C>T	uc010qyo.2	-	0	913	c.913G>A	c.(913-915)Gag>Aag	p.E305K		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TTTCTAATCTCCTTCATCTTG	0.468000														70			6		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236591	42236591	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42236591C>T	uc003ose.2	-	4	1301	c.738G>A	c.(736-738)caG>caA	p.Q246Q	TRERF1_uc011duq.1_Silent_p.Q246Q|TRERF1_uc003osb.2_Silent_p.Q85Q|TRERF1_uc003osc.2_Silent_p.Q85Q|TRERF1_uc003osd.2_Silent_p.Q246Q	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	246	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGTCCTCCCTGCACTGGCA	0.607000														83			6		0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20936973	20936973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:20936973C>T	uc002zsp.3	+	9	1428	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	MED15_uc002zsq.3_Missense_Mutation_p.P410S|MED15_uc010gso.3_Missense_Mutation_p.P393S|MED15_uc002zsr.3_Missense_Mutation_p.P384S|MED15_uc011ahs.2_Missense_Mutation_p.P384S|MED15_uc002zss.3_Missense_Mutation_p.P329S|MED15_uc011ahu.2_Missense_Mutation_p.P160S|MED15_uc002zst.3_Missense_Mutation_p.P66S|MED15_uc002zsu.3_Missense_Mutation_p.P55S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	450	Poly-Pro.|Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTCGATGCCCCCTCCCCCCCA	0.731000														29			8		0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72057476	72057476	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72057476C>T	uc002fbp.3	+	7	1098	c.1077C>T	c.(1075-1077)acC>acT	p.T359T		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	359					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CGGCCCTCACCTTCTGGGGGC	0.607000														66			8		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15526477	15526477	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:15526477A>G	uc004cww.3	+	1	189	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	BMX_uc004cwx.4_Missense_Mutation_p.M1V|BMX_uc004cwy.4_Missense_Mutation_p.M1V	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	1					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGATGATAATATGGATACAAA	0.289000														12			2		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50606768	50606768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:50606768C>T	uc001wxs.4	-	16	2775	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K	SOS2_uc010tql.2_Missense_Mutation_p.E860K|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	893	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTTTTCCTTTCCTGCAGTGCC	0.274000														32			4		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976441	131976441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131976441G>A	uc002tsn.2	+	0	518	c.466G>A	c.(466-468)Gat>Aat	p.D156N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	156							ATP binding										CCCCAGAAAGGATCTCATCGT	0.572000														212			11		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373066	24373066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24373066G>A	uc002dmf.3	+	3	2032	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	277					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	p.M276I(1)		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)		ATCACCATGGGGACCCTCCTC	0.547000														128			9		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614509	135614509	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:135614509G>A	uc003yup.3	-	5	1639	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	ZFAT_uc003yun.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010meh.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010mej.3_Nonsense_Mutation_p.Q423*|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yur.3_Nonsense_Mutation_p.Q473*	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGGCCTCCTGGGCAGCCCCG	0.602000														44			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276755	152276755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276755C>T	uc001ezu.1	-	2	10643	c.10607G>A	c.(10606-10608)gGa>gAa	p.G3536E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3536	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACACTGGATCCCTGGTTCCT	0.577000									Ichthyosis					240			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140723788	140723788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140723788G>A	uc003ljm.2	+	0	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.G63E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGCGCGGAGTCCGCATC	0.612000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		148			17		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50378132	50378132	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:50378132G>A	uc001nhe.2	+	4		c.762G>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		AGAAGAAGAAGGATAAGGATG	0.398000														28			7		0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172013287	172013287	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:172013287A>G	uc003fhy.3	+	7	1156	c.984A>G	c.(982-984)aaA>aaG	p.K328K	FNDC3B_uc003fhz.4_Silent_p.K328K|FNDC3B_uc003fia.3_Silent_p.K259K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	328	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAGATGGAAAATACAAGATAA	0.428000														78			11		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114395761	114395762	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:114395761_114395762AG>TA	uc009zwi.2	-	5	809_810	c.665_666CT>TA	c.(664-666)tct>tTA	p.S222L	RBM19_uc001tvn.4_Missense_Mutation_p.S222L|RBM19_uc001tvm.3_Missense_Mutation_p.S222L	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	222					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCTCCGAGGAAGAGGACGACCC	0.550000														132			14		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520420	110520420	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110520420G>A	uc003yne.3	+	69	11426	c.11322G>A	c.(11320-11322)ctG>ctA	p.L3774L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3774					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGAAAGTCTGGATCCTGACA	0.393000										HNSCC(38;0.096)				118			14		0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32687585	32687586	+	Nonsense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:32687585_32687586CT>TA	uc002hid.1	-	2	355_356	c.283_284AG>TA	c.(283-285)aga>TAa	p.R95*		NM_002981	NP_002972	P22362	CCL1_HUMAN	Homo sapiens chemokine (C-C motif) ligand 1 (CCL1), mRNA.	95					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		TGCTCATTTTCTTTTTGACGGG	0.505000														70			5		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74123754	74123754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:74123754G>A	uc003pgw.3	+	12	1902	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	520	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCATGGAGATAGAGAACA	0.348000														70			7		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314173	58314173	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:58314173G>A	uc002enf.3	-	6	1538	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PRSS54_uc002eng.3_Silent_p.I381I|PRSS54_uc010vie.2_Silent_p.I282I|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	381					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAACCAAGATGATTTCTTCGG	0.478000														82			5		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:173526501C>T	uc001giz.2	-	9	1616	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	398					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363000														102			10		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291010	62291010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:62291010G>A	uc001ntl.3	-	4	11179	c.10879C>T	c.(10879-10881)Cct>Tct	p.P3627S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3627					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGCTTTAGGGAGGGTAACA	0.483000														236			20		0	0	1	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65381176	65381176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:65381176G>A	uc010tsl.2	+	0	98	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	CHURC1-FNTB_uc010tsk.2_Missense_Mutation_p.R15Q|CHURC1-FNTB_uc010tsj.2_Missense_Mutation_p.R15Q|CHURC1-FNTB_uc010tsm.2_5'UTR|CHURC1-FNTB_uc021rup.1_Missense_Mutation_p.R15Q|CHURC1-FNTB_uc001xhv.2_5'UTR|CHURC1-FNTB_uc001xhw.2_Missense_Mutation_p.R15Q	NM_001202559	NP_001189488	B4DL54	B4DL54_HUMAN	Homo sapiens CHURC1-FNTB readthrough (CHURC1-FNTB), transcript variant 1, mRNA.	0					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										TCGTCTTCCCGGAAGCGTTGG	0.602000														176			13		0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19209744	19209744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:19209744C>T	uc001mpk.2	-	2	337	c.220G>A	c.(220-222)Gga>Aga	p.G74R		NM_003476	NP_003467	P50461	CSRP3_HUMAN	Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA.	74	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GCGCCTTGTCCATACCCGATC	0.582000														149			12		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914696	39914696	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39914696G>A	uc002hxq.2	-	9	2005	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.N576N|JUP_uc002hxs.2_Silent_p.N576N	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	576					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCTCCATGCGGTTCATGGGGT	0.617000														121			15		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037164	75037164	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75037164C>T	uc001dgg.3	-	13	4449	c.4230G>A	c.(4228-4230)cgG>cgA	p.R1410R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1410	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						CCTCCCCACTCCGTGCTAATT	0.552000														105			17		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732864	88732864	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:88732864G>A	uc003hqx.4	+	6	854	c.756G>A	c.(754-756)ggG>ggA	p.G252G		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	252					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CACCTTTTGGGAAAACCACCA	0.502000														31			4		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596508	24596508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:24596508C>T	uc011djo.2	-	2	894	c.394G>A	c.(394-396)Gac>Aac	p.D132N	KIAA0319_uc011djp.2_Missense_Mutation_p.D87N|KIAA0319_uc003neh.1_Missense_Mutation_p.D132N|KIAA0319_uc011djq.1_Missense_Mutation_p.D123N|KIAA0319_uc011djr.1_Missense_Mutation_p.D132N	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	132					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCAGGTGAGTCCCCCCAGATC	0.547000														76			9		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9754728	9754728	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9754728C>T	uc021wst.1	+	9	786	c.615C>T	c.(613-615)atC>atT	p.I205I	CPNE9_uc003bsd.3_Silent_p.I204I	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	205	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCTTCAGCATCCCTGTGCGGG	0.537000														66			6		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76734968	76734968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:76734968C>T	uc003pik.1	-	4	635	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	169					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)				GCAGATATTTCATCTTTTCTA	0.343000														51			4		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73951939	73951939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:73951939G>A	uc002jqe.3	-	4	989	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C	ACOX1_uc010wsq.2_Missense_Mutation_p.R172C|ACOX1_uc010wsr.2_Missense_Mutation_p.R142C|ACOX1_uc002jqf.3_Missense_Mutation_p.R210C	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	210					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CCGATTTCACGAATAGGTACG	0.403000														250			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075542	9075542	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9075542G>A	uc002mkp.3	-	2	12108	c.11904C>T	c.(11902-11904)atC>atT	p.I3968I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3970	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						AGTGGGCTGGGATAGTGGAAT	0.493000														24			4		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4539212	4539212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4539212C>T	uc002fyh.3	-	7	1028	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ALOX15_uc010vsd.2_Missense_Mutation_p.D296N|ALOX15_uc010vse.2_Missense_Mutation_p.D357N	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	335	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ATTGGGGGATCCGTAGGCAAG	0.607000														107			12		0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238007	69238007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:69238007G>A	uc002arn.2	+	1	288	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	45					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AACCTAGTACGAAGTGTTCCC	0.353000														90			5		0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827637	31827637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31827637G>A	uc002wyt.4	+	3	419	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	BPIFA1_uc002wyu.4_Missense_Mutation_p.E117K|BPIFA1_uc002wyv.3_Missense_Mutation_p.E117K	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	117					innate immune response	extracellular region	lipid binding										CCAGCTGCTGGAACTTGGCCT	0.532000														236			20		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48918289	48918289	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:48918289G>A	uc002pjc.4	+	6	1669	c.1581_splice	c.e6+1	p.E527_splice		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	527			E -> G (in a breast cancer sample; somatic mutation).			cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGATCGGGGAGGTGAGGGGGC	0.642000														95			10		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523681	55523681	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55523681G>A	uc010spe.2	+	0	129	c.129G>A	c.(127-129)agG>agA	p.R43R		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CAGGCTTCAGGGTACGCCCAG	0.448000														74			6		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122943	39122943	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39122943C>G	uc002hvo.1	-	0	202	c.166G>C	c.(166-168)Gac>Cac	p.D56H	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	56	Head.					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)				CAGCCCTGGTCCCAGGGAATT	0.507000														145			21		0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154508514	154508514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154508514G>A	uc004fnf.3	-	4	756	c.506C>T	c.(505-507)tCc>tTc	p.S169F	CLIC2_uc010nvj.1_Missense_Mutation_p.S187F	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	169	C-terminal.|Foot loop.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGTCTTCTGGAAACTGGGGG	0.433000														31			7		0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859071	105859071	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:105859071G>A	uc002tco.1	+	0	872	c.756G>A	c.(754-756)caG>caA	p.Q252Q		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	252						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCAGCGGCAGCAACAGGTCA	0.652000														156			6		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351455	19351455	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19351455C>T	uc002nlz.3	+	11	3552	c.3453C>T	c.(3451-3453)atC>atT	p.I1151I	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1151	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACGACAGGATCGTGGAGAGAG	0.637000														161			8		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55711726	55711726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55711726C>T	uc002qjq.3	-	6	1371	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	PTPRH_uc010esv.3_Missense_Mutation_p.R255Q|PTPRH_uc002qjs.2_Missense_Mutation_p.R440Q	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	433	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R433R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGTTGTGTTTCGGGTCTCTGT	0.542000														157			21		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285922	248285922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248285922C>T	uc001idy.1	+	0	485	c.485C>T	c.(484-486)tCt>tTt	p.S162F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		CACATGGGATCTGGAGAGGGT	0.448000														192			7		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416641	145416641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:145416641G>A	uc001eni.2	+	3	1311	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	HFE2_uc001enk.2_Missense_Mutation_p.R216Q|HFE2_uc001enj.2_Missense_Mutation_p.R103Q|HFE2_uc001enl.2_Missense_Mutation_p.R103Q|HFE2_uc021oux.1_Missense_Mutation_p.R103Q	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	329					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGACTCTCTCGATCAGAGCGC	0.552000														60			11		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24435576	24435576	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:24435576G>A	uc002rfe.2	-	32	4290	c.4032C>T	c.(4030-4032)tcC>tcT	p.S1344S	ITSN2_uc002rff.2_Silent_p.S1317S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1344	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGAAGCTGGAGAGGGGCA	0.572000														244			29		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696060	222696060	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:222696060C>T	uc001hnh.1	-	8	2116	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	686					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCTGGCTTTCTTCTTTGTAC	0.577000														327			12		0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973884	54973884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54973884C>T	uc010yez.2	-	0	1011	c.892G>A	c.(892-894)Ggt>Agt	p.G298S		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	298					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCCGCAGGACCCCACTCGGCT	0.667000														42			3		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36767754	36767754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:36767754G>A	uc003omr.1	-	3	344	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	CPNE5_uc003oms.1_Missense_Mutation_p.R55C	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	93	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGATCAAAACGGAGGTTCTGC	0.517000														74			4		0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	41002212	41002212	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41002212C>T	uc002ibu.3	+	3	2153	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	AOC2_uc002ibt.3_Silent_p.F679F|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	706					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTATAACTTCTTTGATGAGG	0.572000														266			28		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051844	17051844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:17051844C>T	uc011awc.2	+	2	1078	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.H210Y	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	336					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H210Y(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGAGGTTTTTCATGAGCTTTG	0.338000														33			11		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870992	207870992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:207870992G>A	uc001hga.4	+	5	1128	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	336	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACCCCAGGGAGACTGGAGC	0.517000														159			6		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108139934	108139934	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108139934C>T	uc003dxa.1	-	29	3946	c.3889_splice	c.e29+1	p.G1297_splice		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1297						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTTACTTACCACTCTCACT	0.468000														122			9		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438074	125438074	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125438074C>T	uc011lzb.2	+	0	666	c.666C>T	c.(664-666)ctC>ctT	p.L222L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TAAGAATTCTCATCGCTGTTC	0.463000														43			6		0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68748968	68748968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:68748968G>A	uc004dxk.3	+	1	1042	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	332						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CGACAATGAGGAAATGGTGTA	0.617000														13			4		0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617672	100617672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:100617672C>T	uc001vom.1	-	1	2200	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	651					cell differentiation	nucleus	DNA binding|zinc ion binding	p.E651G(1)		endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGTAAATTTCCTCATCTTCA	0.473000														157			12		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785393	12785393	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12785393G>A	uc009vnn.1	+	3	716	c.483G>A	c.(481-483)caG>caA	p.Q161Q	AADACL3_uc001aug.1_Silent_p.Q91Q	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	161							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGCTCAGATCCTGATCT	0.537000														154			32		0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96272009	96272009	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:96272009C>A	uc001tek.2	-	12	1492	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	420										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAATTAAATTCTCCAAAGCTA	0.348000														30			5		0.000157383	0.000158227	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48177869	48177869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:48177869G>A	uc002efc.1	-	1	573	c.227C>T	c.(226-228)aCc>aTc	p.T76I	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.T76I|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	76						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGGGGCAGGGTGTCTACGGT	0.527000														97			8		0	0	1	0	0
MRPS33	51650	broad.mit.edu	37	7	140710238	140710238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140710238G>A	uc003vwd.4	-	1	352	c.196C>T	c.(196-198)Cga>Tga	p.R66*	MRPS33_uc003vwe.4_Nonsense_Mutation_p.R66*	NM_016071	NP_444263	Q9Y291	RT33_HUMAN	Homo sapiens mitochondrial ribosomal protein S33 (MRPS33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	66					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					CCAAGAAATCGGAGCGTCTGC	0.418000														94			9		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537506	73537506	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:73537506T>C	uc001jrx.4	+	36	5296	c.4906T>C	c.(4906-4908)Tat>Cat	p.Y1636H		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1639	Cadherin 16.				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						GCAGCCCCACTATGAGGTGCT	0.582000														23			3		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98392448	98392449	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:98392448_98392449GG>AA	uc002syh.4	-	31	4406_4407	c.4177_4178CC>TT	c.(4177-4179)cca>TTa	p.P1393L		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1393	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTTCTTAGGTGGTTTCACCTTG	0.421000														47			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196726633	196726633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196726633C>T	uc002utj.4	-	41	7645	c.7544G>A	c.(7543-7545)cGa>cAa	p.R2515Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2515	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCAAGAATCGTGAGGCAAC	0.378000														41			5		0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248969	49248969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49248969G>A	uc002pkj.3	-	1	696	c.148C>T	c.(148-150)Cac>Tac	p.H50Y	IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	50					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ATGGCTTTGTGATGCTTCGCA	0.547000														141			10		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30987415	30987415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:30987415C>T	uc010qdx.1	+	3	687	c.145C>T	c.(145-147)Cca>Tca	p.P49S						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		GGGGAAAATTCCAAAGTGCTC	0.453000														49			6		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640462	3640463	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3640462_3640463GG>AA	uc002cvp.2	-	11	3803_3804	c.3176_3177CC>TT	c.(3175-3177)ccc>cTT	p.P1059L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1059	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGGACCGGGGTGTTGACAG	0.639000								Direct reversal of damage						151			6		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40434009	40434009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40434009G>A	uc002omp.4	-	1	268	c.260C>T	c.(259-261)tCg>tTg	p.S87L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	87	IgGFc-binding.					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)			GACCATGACCGACTCCCCGGG	0.557000														144			29		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226748	39226748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:39226748G>A	uc003cjk.2	-	1	4418	c.4189C>T	c.(4189-4191)Ccc>Tcc	p.P1397S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P80S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1397S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1397							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)		TGTAAGCTGGGCTGGCTATGT	0.597000														69			9		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929824	121929824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:121929824C>T	uc004bkc.2	-	7	2280	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	608					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						AAAATGTTTTCCACCGATTGC	0.557000														146			28		0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18995068	18995068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18995068G>A	uc002nki.1	-	2	490	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	CERS1_uc002nkj.3_Missense_Mutation_p.P140S|CERS1_uc010ebx.3_Missense_Mutation_p.P42S	NM_021267	NP_067090	P27544	CERS1_HUMAN	Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA.	140	TLC.				ceramide biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						GCCATGCCCGGCGTCCAGTCT	0.617000														23			3		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113448259	113448259	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113448259C>T	uc001tuj.3	+	10	2270	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	OAS2_uc001tui.1_3'UTR	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	710					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCATAGAATCCTGAATAATA	0.403000														157			19		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124329689	124329689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124329689C>T	uc001lgk.1	+	2	209	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	DMBT1_uc001lgl.1_Missense_Mutation_p.P35S|DMBT1_uc001lgm.1_Missense_Mutation_p.P35S|DMBT1_uc021qaf.1_Missense_Mutation_p.P35S|DMBT1_uc021qag.1_Missense_Mutation_p.P35S|DMBT1_uc021qah.1_Missense_Mutation_p.P35S|DMBT1_uc009xzz.1_Missense_Mutation_p.P35S|DMBT1_uc010qtx.1_Missense_Mutation_p.P35S|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	35					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)				TTCACTGATTCCCTCGGAGGT	0.547000														148			15		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117977619	117977619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:117977619G>A	uc001two.2	-	9	1560	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	531					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCTGGCGAGGAGGGCGT	0.632000														88			7		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18242180	18242180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18242180G>A	uc001rdq.3	-	1	232	c.38C>T	c.(37-39)tCt>tTt	p.S13F		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	13	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.S13F(3)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AACAGAAACAGATTTCTCATT	0.333000														21			3		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17559376	17559377	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17559376_17559377CT>TA	uc001bah.1	+	10	1316_1317	c.1224_1225CT>TA	c.(1222-1227)tccttc>tcTAtc	p.F409I	PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	409					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCCTTGACTCCTTCGGCAACCT	0.644000														45			7		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89615201	89615201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:89615201G>A	uc001dna.2	-	6	1065	c.926C>T	c.(925-927)cCt>cTt	p.P309L	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	309						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTCCAGACAAGGAGTCGCTCC	0.527000														61			9		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55174698	55174698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55174698C>T	uc010ooe.1	+	22	4003	c.3679C>T	c.(3679-3681)Ccc>Tcc	p.P1227S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.P745S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.P428S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1227						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						GTCCCTGGTCCCCTGCATGGA	0.527000														175			22		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295971	29295971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29295971G>A	uc002rmt.2	-	0	1157	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	386					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCTGTGTGGGGTGAAGTCAC	0.597000														72			5		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125320882	125320882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:125320882G>A	uc010flu.3	+	10	2102	c.1738G>A	c.(1738-1740)Ggt>Agt	p.G580S	CNTNAP5_uc002tno.3_Missense_Mutation_p.G579S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	579	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G579S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGTTACACTGGTGCCACCTG	0.458000														7			3		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084769	39084769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39084769C>T	uc002hvm.1	-	4	1316	c.727G>A	c.(727-729)Gat>Aat	p.D243N	KRT23_uc010wfl.1_Missense_Mutation_p.D106N|KRT23_uc010cxf.1_Missense_Mutation_p.D30N|KRT23_uc010cxg.3_Missense_Mutation_p.D243N|KRT23_uc002hvn.1_Missense_Mutation_p.D243N	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	243	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGTCTCATATCCTCCAGGACC	0.388000														158			15		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586422	189586422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:189586422G>A	uc003fry.2	+	7	1135	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	TP63_uc003frx.2_Missense_Mutation_p.G349E|TP63_uc003frz.2_Missense_Mutation_p.G349E|TP63_uc010hzc.1_Missense_Mutation_p.G349E|TP63_uc003fsa.2_Missense_Mutation_p.G255E|TP63_uc003fsb.2_Missense_Mutation_p.G255E|TP63_uc003fsc.2_Missense_Mutation_p.G255E|TP63_uc003fsd.2_Missense_Mutation_p.G255E|TP63_uc021xir.1_Missense_Mutation_p.G255E|TP63_uc010hzd.1_Missense_Mutation_p.G170E|TP63_uc003fse.1_Missense_Mutation_p.G230E	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	349					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)		GCTTGCCCAGGAAGAGACAGG	0.488000										HNSCC(45;0.13)				54			8		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32613921	32613921	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:32613921G>A	uc003xiv.2	+	9	1321	c.804_splice	c.e9-1	p.K268_splice	NRG1_uc022ats.1_Splice_Site_p.K218_splice|NRG1_uc011lbf.1_Splice_Site_p.K265_splice|NRG1_uc010lvo.2_Splice_Site_p.K265_splice|NRG1_uc003xiu.2_Splice_Site_p.K273_splice|NRG1_uc003xiw.2_Splice_Site_p.K265_splice|NRG1_uc003xit.2_Splice_Site_p.K268_splice|NRG1_uc010lvr.2_Splice_Site_p.K10_splice|NRG1_uc010lvs.2_Splice_Site_p.K10_splice|NRG1_uc010lvp.2_Splice_Site_p.K222_splice|NRG1_uc010lvq.2_Splice_Site_p.K198_splice|NRG1_uc011lbg.1_Splice_Site_p.K114_splice|NRG1_uc011lbh.1_Splice_Site_p.K111_splice|NRG1_uc003xja.2_Splice_Site_p.K79_splice	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	268					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTATGTCCAGGAAACAGCGGA	0.418000														66			8		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124094432	124094432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124094432G>A	uc001lgc.1	+	13	1452	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R	BTBD16_uc001lgd.1_Missense_Mutation_p.G400R	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	401								p.G401E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TGCTCTATATGGATTCTTCTT	0.353000														141			17		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30095004	30095004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:30095004C>T	uc002dwe.3	+	6	641	c.506C>T	c.(505-507)cCc>cTc	p.P169L	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.P169L	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	169					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.P169S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGCCTCTCCCCCTCCATCCAG	0.617000														109			4		0	0	1	0	0
FAM75A2	642265	broad.mit.edu	37	9	39888258	39888258	+	Silent	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:39888258T>G	uc004abp.3	+	3	1274	c.1245T>G	c.(1243-1245)ctT>ctG	p.L415L		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	415						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATAGCCAGCTTTTCTGGGGCC	0.507000														116			22		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72771862	72771862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72771862G>A	uc001sxa.3	+	2	1171	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	381					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						AGAATTTTATGAAGACTACTT	0.343000														86			8		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2979457	2979458	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:2979457_2979458CC>TT	uc003smv.3	-	5	1123_1124	c.789_790GG>AA	c.(787-792)aaggag>aaAAag	p.E264K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	264					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R264W(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAACCTGCTCCTTCTTGGGCC	0.510000			Mis		DLBCL									183			14		0	0	1	0	0
CYB561D2	11068	broad.mit.edu	37	3	50391078	50391078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:50391078C>T	uc003dal.3	+	3	782	c.572C>T	c.(571-573)gCc>gTc	p.A191V	NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dam.3_Missense_Mutation_p.A191V	NM_007022	NP_008953	O14569	C56D2_HUMAN	Homo sapiens cytochrome b-561 domain containing 2 (CYB561D2), mRNA.	191	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTGGTGCAGCCTGGTACCTG	0.552000														225			29		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648148	20648148	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20648148C>T	uc002dhm.1	-	8	1280	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.K404K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	404					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGATGCTGCCCTTGTCATCAA	0.532000														67			4		0	0	1	0	0
SLC31A1	1317	broad.mit.edu	37	9	116021091	116021091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:116021091C>T	uc004bgu.3	+	3	506	c.320C>T	c.(319-321)cCt>cTt	p.P107L	FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.4_Missense_Mutation_p.P107L	NM_001859	NP_001850	O15431	COPT1_HUMAN	Homo sapiens solute carrier family 31 (copper transporters), member 1 (SLC31A1), mRNA.	107						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						AATTCCATGCCTGTCCCAGGA	0.453000														76			15		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784543	9784543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:9784543C>T	uc003gmb.4	+	0	1286	c.890C>T	c.(889-891)aCc>aTc	p.T297I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	297			T -> P (in dbSNP:rs2227851).		activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTTCTCAAGACCCTGTCGGTG	0.632000														79			6		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179430	55179430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55179430C>T	uc002qgp.3	+	11	1669	c.1307C>T	c.(1306-1308)cCa>cTa	p.P436L	LILRB4_uc002qgq.3_Missense_Mutation_p.P435L|LILRB4_uc010ert.3_Missense_Mutation_p.P477L|LILRB4_uc010eru.3_Missense_Mutation_p.P466L	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	436						integral to membrane|plasma membrane	antigen binding|receptor activity	p.P436T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGGGCCTCTCCAGCTGAGCCC	0.607000														122			14		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759173	54759173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54759173C>T	uc010yer.1	-	4	1012	c.901G>A	c.(901-903)Gac>Aac	p.D301N	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.D310N|LILRB5_uc002qez.3_Missense_Mutation_p.D210N|LILRB5_uc002qex.3_Missense_Mutation_p.D310N|LILRB5_uc002qfa.1_Missense_Mutation_p.D200N|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	310	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGGGGGTCGCTGGGGGCC	0.667000														73			12		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124567376	124567376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:124567376G>A	uc003eho.3	-	3	688	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	131					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCCACCTGGCGAACCTGTAGC	0.552000														68			10		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053062	15053062	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15053062C>T	uc010xoc.2	+	0	762	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ATGGCACTGGCCTTGGGGTCT	0.537000														138			11		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103536	53103536	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:53103536C>T	uc003tpz.3	+	0	188	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	58										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGAGGTCCCTGACTCAGAG	0.706000														59			11		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926996	72926996	+	Silent	SNP	C	T	T	rs142921758		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72926996C>T	uc010wrp.2	+	5	1358	c.1266C>T	c.(1264-1266)atC>atT	p.I422I		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	422						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTTTATCATCGAGAGCCTTC	0.622000														87			8		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65918088	65918088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65918088C>T	uc010ujf.2	+	1	1957	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	SLC24A1_uc010ujd.1_Missense_Mutation_p.P557L|SLC24A1_uc010uje.1_Missense_Mutation_p.P557L|SLC24A1_uc010ujg.2_Missense_Mutation_p.P557L|SLC24A1_uc010ujh.2_Missense_Mutation_p.P557L	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	557					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTGGTGGCCCTTATTCCGT	0.522000														95			14		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895585	42895585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:42895585G>A	uc003gwt.3	+	0	303	c.302G>A	c.(301-303)aGc>aAc	p.S101N		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	101					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACATTTTAAGCAAAAATGGC	0.428000														86			4		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833491	43833491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:43833491C>T	uc010skx.2	-	17	2527	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K	ADAMTS20_uc001rno.1_5'UTR|ADAMTS20_uc001rnp.1_5'UTR	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	843	Spacer.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACTCCTCTCTTCCAAAGGG	0.393000														55			6		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63908028	63908028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:63908028G>A	uc002amp.3	-	75	14181	c.14033C>T	c.(14032-14034)tCc>tTc	p.S4678F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4678	HECT.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTCCTGTTGGAAAATGTGAG	0.438000														24			3		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555448	50555448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:50555448C>T	uc001zxz.3	-	1	530	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HDC_uc010uff.2_Missense_Mutation_p.R63Q|HDC_uc010bet.2_Missense_Mutation_p.R63Q|HDC_uc010beu.2_Missense_Mutation_p.R63Q	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATGATGATTCGTTCAATGTC	0.597000														316			23		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32414251	32414251	+	Missense_Mutation	SNP	G	A	A	rs121907910		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:32414251G>A	uc001mtn.2	-	7	1490	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	WT1_uc001mtl.2_Missense_Mutation_p.R222C|WT1_uc001mtm.2_Missense_Mutation_p.R205C|WT1_uc001mto.2_Missense_Mutation_p.R434C|WT1_uc001mtq.2_Missense_Mutation_p.R417C|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	366					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R433fs*19(4)|p.R433fs*18(3)|p.R366C(2)|p.R433fs*21(1)|p.R433C(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTCTGAACGAGAAAACCTT	0.443000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					73			5		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911453	130911453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:130911453G>A	uc002tqq.2	-	16	2981	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	SMPD4_uc002tqo.2_Missense_Mutation_p.S143F|SMPD4_uc002tqp.2_Missense_Mutation_p.S350F|SMPD4_uc010yzy.2_Missense_Mutation_p.S360F|SMPD4_uc010yzz.2_Missense_Mutation_p.S275F|SMPD4_uc002tqs.2_Missense_Mutation_p.S479F|SMPD4_uc002tqr.2_Missense_Mutation_p.S582F|SMPD4_uc010zaa.2_Missense_Mutation_p.S469F|SMPD4_uc010zab.2_Missense_Mutation_p.S509F|SMPD4_uc002tqt.2_Missense_Mutation_p.S460F|SMPD4_uc010zac.2_Missense_Mutation_p.S352F|SMPD4_uc010zad.2_Missense_Mutation_p.S247F	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	572					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ACACTGGTCGGAGATGGACTT	0.632000														77			5		0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46956741	46956741	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:46956741G>A	uc002ldi.1	-	1	389	c.24C>T	c.(22-24)atC>atT	p.I8I	DYM_uc010xdf.1_Silent_p.I8I	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	8						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GAAGATCGCCGATTCTGCTGC	0.363000														80			5		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51053024	51053024	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:51053024C>T	uc002lfe.2	+	27	4765	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S	DCC_uc010dpf.2_Silent_p.S1016S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1383					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)		AAACAGCCTCCCTTGGGTTGG	0.473000														93			4		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8015439	8015439	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:8015439G>A	uc002gka.3	-	5	1255	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	ALOXE3_uc010cnr.3_Silent_p.I252I|ALOXE3_uc010vuo.2_Silent_p.I384I|ALOXE3_uc010vup.2_Non-coding_Transcript	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	252	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCACCAGAAGATGTTCTGCA	0.537000														161			7		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30690065	30690065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30690065G>A	uc010gvu.3	-	6	846	c.761C>T	c.(760-762)tCg>tTg	p.S254L	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc003ahi.3_Missense_Mutation_p.S105L|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc003ahk.4_Missense_Mutation_p.S247L	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	247	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity	p.P254P(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGCAACAGCGAGAAAAGGAT	0.607000														134			14		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44490126	44490126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:44490126G>A	uc003cnf.2	-	7	1385	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	ZNF445_uc011azv.1_Missense_Mutation_p.S334F|ZNF445_uc011azw.1_Missense_Mutation_p.S346F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	346					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)		AATTCCCTCAGAAACACTTGT	0.408000														73			14		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633754	70633754	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:70633754C>T	uc001xly.3	-	1	2140	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	SLC8A3_uc001xlw.3_Silent_p.K462K|SLC8A3_uc001xlx.3_Silent_p.K462K|SLC8A3_uc001xlz.3_Silent_p.K462K|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.	462	Calx-beta 1.				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)		CGGAGAACTCCTTCTGGGTCT	0.502000														183			19		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760607	176760607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176760607G>A	uc001gkz.3	+	18	6173	c.5009G>A	c.(5008-5010)gGa>gAa	p.G1670E	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1670	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGAACAAGGATATGGGATT	0.383000														77			6		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26793217	26793217	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:26793217G>C	uc001zbb.3	-	9	1416	c.1313C>G	c.(1312-1314)tCa>tGa	p.S438*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.S311*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.S297*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.S382*|GABRB3_uc001zba.3_Nonsense_Mutation_p.S382*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	382					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGCCGCCTGAGACCTCATT	0.468000														200			11		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839871	27839871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:27839871C>T	uc022bud.1	+	0	448	c.448C>T	c.(448-450)Cct>Tct	p.P150S	MAGEB10_uc004dbw.3_Missense_Mutation_p.P150S	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	150	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GAGCCAGTTCCCTGTAATCCT	0.438000														25			10		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789091	26789091	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:26789091G>A	uc001uqo.3	-	4	1273	c.928C>T	c.(928-930)Cga>Tga	p.R310*	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Nonsense_Mutation_p.R310*|RNF6_uc001uqq.3_Nonsense_Mutation_p.R310*|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	310	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAACGGCTTCGACTATTGGAA	0.413000														184			22		0	0	1	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881552	111881552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:111881552C>T	uc002tgv.1	+	1	518	c.230C>T	c.(229-231)tCc>tTc	p.S77F	BCL2L11_uc002tgt.1_Intron|BCL2L11_uc021vmo.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgy.2_Intron|BCL2L11_uc002thb.2_Intron|BCL2L11_uc002tgx.2_Intron|BCL2L11_uc021vmp.1_Missense_Mutation_p.S77F|BCL2L11_uc010fkd.2_Intron|BCL2L11_uc002tgz.2_Intron|BCL2L11_uc002thd.2_Intron|BCL2L11_uc002tha.2_Missense_Mutation_p.S77F|BCL2L11_uc010fke.2_Intron|BCL2L11_uc021vmq.1_Missense_Mutation_p.S77F|BCL2L11_uc002thc.2_Intron|BCL2L11_uc021vmr.1_Missense_Mutation_p.S77F|BCL2L11_uc002tgw.2_Intron|BCL2L11_uc021vms.1_Missense_Mutation_p.S77F	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	77					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GCTACCAGATCCCCGCTTTTC	0.592000														105			8		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476201	17476201	+	Missense_Mutation	SNP	C	T	T	rs146532352		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17476201C>T	uc002ngk.1	-	2	1113	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	358						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGTTGTCTCGTTCCTTCCG	0.622000														109			8		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357116	36357116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:36357116G>A	uc002ocb.4	+	14	2061	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Missense_Mutation_p.E579K|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	617					cell adhesion	integral to membrane|plasma membrane		p.E617G(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCTTGGCGAAGCCCCTGG	0.607000														102			7		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549468	56549468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56549468C>T	uc002qmj.3	+	9	2693	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F	NLRP5_uc002qmi.3_Missense_Mutation_p.S879F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	898						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCCTGAAATCTCTGAGCCTG	0.547000														75			9		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319775	21319775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:21319775C>T	uc021tss.1	+	2	1491	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	KCNJ18_uc002gyv.1_Missense_Mutation_p.S374F|KCNJ18_uc021tst.1_Missense_Mutation_p.S374F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	374						integral to membrane	inward rectifier potassium channel activity										AGCGCCAACTCCTTCTGCTAC	0.632000														85			6		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10562080	10562080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10562080G>A	uc001qye.3	-	0	277	c.95C>T	c.(94-96)tCa>tTa	p.S32L	KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_Intron	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	32					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TTTGGTTCCTGAAATGGAGAT	0.403000														161			16		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44699028	44699028	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44699028G>A	uc002xrd.3	-	1	714	c.186C>T	c.(184-186)gaC>gaT	p.D62D	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Silent_p.D62D	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	62	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TATGTCTGTGGTCCCGCAAGT	0.567000														152			18		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390417	8390417	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:8390417C>T	uc001apb.3	+	3	864	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC45A1_uc001apc.3_5'UTR	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	288					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCAGCATCCCTGAGAGGC	0.687000														65			20		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52994894	52994894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52994894C>T	uc001sar.2	-	0	429	c.343G>A	c.(343-345)Gac>Aac	p.D115N	KRT72_uc001saq.2_Missense_Mutation_p.D115N|KRT72_uc010sns.1_Missense_Mutation_p.D115N|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	115	Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ATCTCGGGGTCCATCTCCACG	0.652000														129			5		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100421381	100421381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100421381G>A	uc003uwn.1	-	2	787	c.296C>T	c.(295-297)tCc>tTc	p.S99F	EPHB4_uc003uwm.1_Missense_Mutation_p.S6F|EPHB4_uc010lhj.1_Missense_Mutation_p.S99F|EPHB4_uc011kkf.1_Missense_Mutation_p.S99F|EPHB4_uc011kkg.1_Missense_Mutation_p.S99F|EPHB4_uc011kkh.1_Missense_Mutation_p.S99F	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	99					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGAGGCAGGGACAGGCACTC	0.692000														120			23		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008415	43008415	+	Silent	SNP	G	A	A	rs147056081	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43008415G>A	uc003otq.3	-	20	4208	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I	CUL7_uc010jyg.3_Silent_p.I571I|CUL7_uc011dvb.2_Silent_p.I1376I|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1292					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGCAGGGACCGATCTGCTCCA	0.662000														88			12		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80049263	80049263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:80049263G>A	uc002kdu.3	-	8	1444	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	443	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGGCTGTGCCGGAGGCCCTGC	0.716000														15			9		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984833	85984833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:85984833G>A	uc010qmc.2	-	1	156	c.148C>T	c.(148-150)Cct>Tct	p.P50S	LRIT2_uc001kcy.3_Missense_Mutation_p.P50S	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGTTCCCAGGGATCTTTCCC	0.448000														101			9		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729610	196729610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196729610C>T	uc002utj.4	-	40	6870	c.6769G>A	c.(6769-6771)Gat>Aat	p.D2257N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2257					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCATGCCATCATTATCAAAA	0.393000														77			5		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084538	248084538	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248084538C>T	uc010pzc.2	+	0	219	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTGGTTTCCACCACTGTGC	0.572000														103			6		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470552	111470552	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:111470552T>G	uc003iab.4	+	14	2544	c.2202T>G	c.(2200-2202)aaT>aaG	p.N734K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	734					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGGGATGGAATGATGCTGGAG	0.308000														56			4		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77636804	77636804	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:77636804A>G	uc021rks.1	-	73	12968	c.12701T>C	c.(12700-12702)gTt>gCt	p.V4234A	MYCBP2_uc010aev.3_Missense_Mutation_p.V3600A|MYCBP2_uc001vke.3_Missense_Mutation_p.V813A	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGATCAAGAACACATAGGGA	0.428000														90			6		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10391803	10391803	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:10391803C>T	uc003bvt.3	-	15	2836	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L	ATP2B2_uc003bvv.3_Silent_p.L754L|ATP2B2_uc003bvw.3_Silent_p.L754L|ATP2B2_uc010hdo.3_Silent_p.L504L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	799					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TACCTTTAACCAGGGTATGCT	0.597000														67			8		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672580	141672580	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141672580A>G	uc003vwx.1	-	0	994	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	304					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCTCTCCTCAACTTGGCATTG	0.542000														62			6		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372307	76372307	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76372307C>T	uc001oxq.4	-	2	573	c.330G>A	c.(328-330)gcG>gcA	p.A110A	LRRC32_uc001oxr.4_Silent_p.A110A|LRRC32_uc010rsf.2_Silent_p.A110A	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	110						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGGCCATCGCCAGCCGGT	0.672000														49			3		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303559	22303560	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:22303559_22303560CC>TT	uc001bfk.3	+	0	142_143	c.27_28CC>TT	c.(25-30)ctcctc>ctTTtc	p.L10F	CELA3B_uc009vqf.3_Missense_Mutation_p.L9F	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	10					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCAGTTCCCTCCTCCTTGTGGC	0.525000														393			41		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554486	18554486	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:18554486G>A	uc001bau.2	+	1	548	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	55	Ig-like 1.					extracellular region		p.R55W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGCGCATGCGGGAGATCGTGT	0.582000														77			10		0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30601897	30601897	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:30601897T>G	uc001msr.3	-	0	145	c.24A>C	c.(22-24)caA>caC	p.Q8H	MPPED2_uc001msq.3_Missense_Mutation_p.Q8H|MPPED2_uc009yji.3_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	8					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TAACTTTGCCTTGAGAAGGAA	0.493000														100			11		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162624	48162624	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:48162624G>C	uc002efc.1	-	8	1607	c.1261C>G	c.(1261-1263)Cca>Gca	p.P421A	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.P421A	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	421						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGTAAGATGGGGGGCTTTTA	0.403000														106			7		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6307229	6307229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6307229C>T	uc002mel.2	-	4	639	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	187						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGTCACTGATCCAGCTGGTCA	0.562000														93			8		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11782265	11782265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11782265G>A	uc010buu.1	-	9	2080	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	TXNDC11_uc002dbg.1_Missense_Mutation_p.P646L	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	673	Thioredoxin 2.				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						CCTTTTCAAGGGACTATAGAG	0.398000														63			5		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171108	150171108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150171108G>A	uc003whj.3	+	3	1021	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	231						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGGCCCAAGGGAAAGGCAGCT	0.527000														90			5		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866417	215866417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:215866417G>A	uc002vew.3	-	20	2948	c.2728C>T	c.(2728-2730)Cag>Tag	p.Q910*	ABCA12_uc002vev.3_Nonsense_Mutation_p.Q592*|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	910					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGTTAAGCTGATCGATGATG	0.363000														50			3		0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24167504	24167504	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:24167504A>T	uc001uov.2	+	2	294	c.90A>T	c.(88-90)gaA>gaT	p.E30D	TNFRSF19_uc001uot.3_Missense_Mutation_p.E30D|TNFRSF19_uc010tcu.2_Intron|TNFRSF19_uc001uow.3_Missense_Mutation_p.E30D|TNFRSF19_uc001uou.3_Missense_Mutation_p.E30D	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	30					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGACTTGTGAATCAGGAGACT	0.358000														94			8		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983223	97983223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:97983223G>A	uc003dsi.1	+	0	95	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTTCTCACAGGATTTTTACAT	0.398000														170			16		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208632	23208632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23208632C>T	uc002dlm.1	+	5	1100	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	321					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAACCCATTCCTCGTGTCCTC	0.488000														68			4		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614640	247614640	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247614640C>T	uc010pyx.2	-	0	645	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P214P(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGATGAGAGCCAGGGGCACCA	0.587000														45			5		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658452	3658452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3658452G>A	uc002cvp.2	-	1	1141	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	SLX4_uc002cvq.1_Missense_Mutation_p.L172F	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	172	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTCTGGAAAGGTTTGGCGAT	0.507000								Direct reversal of damage						146			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179391873	179391873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179391873C>T	uc021vsy.1	-	311	100363	c.100138G>A	c.(100138-100140)Gaa>Aaa	p.E33380K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E27075K|TTN_uc021vta.1_Missense_Mutation_p.E27008K|TTN_uc021vtb.1_Missense_Mutation_p.E26883K|TTN_uc002umq.3_Missense_Mutation_p.E296K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34307	Ig-like 146.						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)			TCTGTGTTTTCAATGTGGAAC	0.463000														35			3		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821850	35821850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:35821850G>A	uc021wit.1	-	0	83	c.83C>T	c.(82-84)tCg>tTg	p.S28L	KCNE1_uc010gmp.3_Missense_Mutation_p.S28L|KCNE1_uc002ytz.3_Missense_Mutation_p.S28L|KCNE1_uc010gmq.3_Missense_Mutation_p.S28L|KCNE1_uc010gmr.3_Missense_Mutation_p.S28L|KCNE1_uc010gms.3_Missense_Mutation_p.S28L|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	28					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGCCAGGCCCGACATGTTGCC	0.607000														74			6		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202284011	202284011	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:202284011G>A	uc001gxu.3	+	17	1648	c.1648_splice	c.e17+1	p.G550_splice	LGR6_uc001gxv.3_Splice_Site_p.G498_splice|LGR6_uc009xab.3_Splice_Site|LGR6_uc001gxw.3_Splice_Site_p.G411_splice	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	550						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCTACTCCAGGTGAGGTGGTG	0.557000														51			3		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929162	45929162	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:45929162G>A	uc002zfe.1	-	9	1740	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	TSPEAR_uc010gpv.1_Silent_p.S490S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	558					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGATGACATAGGAATCATTCT	0.547000														63			8		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45433149	45433149	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:45433149C>T	uc001zus.1	+	13	1792	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	DUOX1_uc001zut.1_Silent_p.L482L|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	482	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TAGAGCTGCTCCCTGGGGGAC	0.587000														107			8		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149172508	149172508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149172508G>A	uc010lpi.2	-	6	1176	c.905C>T	c.(904-906)cCt>cTt	p.P302L	ZNF746_uc003wfw.2_Missense_Mutation_p.P301L	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	301					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TAGGTCAGTAGGATGTACGGG	0.532000														88			5		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935403	30935403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:30935403G>A	uc002nsu.1	+	1	1072	c.934G>A	c.(934-936)Gag>Aag	p.E312K	ZNF536_uc010edd.1_Missense_Mutation_p.E312K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E312A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTTCGCAGGAGGAGGAGCT	0.642000														214			10		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435655	158435655	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158435655T>C	uc010pij.2	+	0	304	c.304T>C	c.(304-306)Ttt>Ctt	p.F102L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATCCAAATGTTTTCCTTCCT	0.498000														135			9		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038273	34038273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34038273G>A	uc001bxm.1	-	49	7772	c.7595C>T	c.(7594-7596)cCt>cTt	p.P2532L	CSMD2_uc001bxn.1_Missense_Mutation_p.P2534L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2534	Sushi 15.					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)				GGGGGCCTCAGGAAGCCCACA	0.488000														75			5		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176164	57176164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57176164C>T	uc010ygn.2	-	1	630	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AATGGCTTCTCCCCGGTGTGG	0.632000														112			19		0	0	1	0	0
WDR5B	54554	broad.mit.edu	37	3	122134328	122134328	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:122134328G>A	uc003efa.1	-	0	555	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	Homo sapiens WD repeat domain 5B (WDR5B), mRNA.	16										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TGGCCGATGAGGAGAGGGCCA	0.507000														140			12		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54786858	54786858	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54786858C>T	uc021smr.1	+	17	4980	c.4980C>T	c.(4978-4980)ttC>ttT	p.F1660F	UNC13C_uc021sms.1_Silent_p.F1662F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1662	MHD1.				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)		ATTTGCATTTCAAAGTTAAAT	0.328000														70			5		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382562	22382562	+	Silent	SNP	G	A	A	rs139049224		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:22382562G>A	uc001yuc.1	+	6	1071	c.90G>A	c.(88-90)ctG>ctA	p.L30L	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.L30L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTTGTGCTGATCTTAATTT	0.413000														130			19		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16884082	16884082	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16884082C>T	uc002neu.4	+	10	2978	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	NWD1_uc002net.4_Silent_p.F717F|NWD1_uc002nev.4_Silent_p.F646F|NWD1_uc021uqg.1_Silent_p.F717F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	852							ATP binding			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						TCGGAGGATTCCTCCAGCCCC	0.627000														56			8		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94731788C>T	uc001ycs.1	+	20	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(4)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000														79			9		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114301	117114301	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117114301G>A	uc003pxj.1	-	5	1807	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	GPRC6A_uc003pxk.1_Silent_p.I420I|GPRC6A_uc003pxl.1_Silent_p.I524I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	595					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCAGGAGTAGGATGGCCAAGG	0.438000														74			6		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236960	23236961	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23236960_23236961GG>AA	uc009vqj.1	+	13	2733_2734	c.2588_2589GG>AA	c.(2587-2589)tgg>tAA	p.W863*	EPHB2_uc001bge.3_Nonsense_Mutation_p.W864*|EPHB2_uc001bgf.3_Nonsense_Mutation_p.W863*|EPHB2_uc010odu.2_Nonsense_Mutation_p.W805*	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	863	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTGGACTGTTGGCAGAAGGACC	0.584000														153			14		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867060	34867060	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34867060C>T	uc003teh.1	+	4	654	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.L176L|NPSR1_uc010kwt.1_Silent_p.L23L|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L110L|NPSR1_uc003tei.1_Silent_p.L176L|NPSR1_uc010kww.1_Silent_p.L165L|NPSR1_uc011kar.1_Silent_p.L110L|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	176						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTGTCTTTTCTGTTCTCCAT	0.532000														50			6		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49371708	49371708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:49371708C>T	uc001jgi.3	-	27	3875	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E1150K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E1151K|FRMPD2_uc001jgf.3_Missense_Mutation_p.E193K|FRMPD2_uc001jgg.3_Missense_Mutation_p.E134K|FRMPD2_uc001jgk.3_Missense_Mutation_p.E134K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1182					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCTGAGAGTTCAGGTGTCTAT	0.448000														126			9		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:42080489G>A	uc002yyq.1	-	1	704	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	84	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGGAAGGGGAAAATTTGGA	0.498000														87			8		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283606	159283606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:159283606G>A	uc010piu.2	-	0	844	c.844C>T	c.(844-846)Cac>Tac	p.H282Y		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H282Y(2)|p.H281R(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTAGGGGAGTGATGAGTGTAG	0.507000														77			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222207	140222207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140222207C>T	uc003lhs.2	+	0	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	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.S434L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	448	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.627000														202			17		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169587	27169587	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:27169587A>T	uc011lno.2	+	3	1030	c.588A>T	c.(586-588)ggA>ggT	p.G196G	TEK_uc010mjc.1_Silent_p.G49G|TEK_uc011lnn.1_Silent_p.G196G|TEK_uc003zqi.4_Silent_p.G196G|TEK_uc011lnp.2_Silent_p.G92G|TEK_uc003zqj.1_Silent_p.G173G	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	196					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATATAGGAGGAAACCTCTTCA	0.498000														76			12		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259218	89259218	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:89259218A>G	uc003dqy.3	+	2	587	c.362A>G	c.(361-363)aAc>aGc	p.N121S	EPHA3_uc003dqx.1_Missense_Mutation_p.N121S|EPHA3_uc021xbf.1_Missense_Mutation_p.N121S	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	121						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)		GAGACATTCAACCTGTACTAC	0.423000										TSP Lung(6;0.00050)				154			13		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43342097	43342097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43342097G>A	uc002yzw.3	-	2	718	c.476C>T	c.(475-477)tCc>tTc	p.S159F	C2CD2_uc002yzu.3_5'Flank|C2CD2_uc002yzv.3_Missense_Mutation_p.S4F|C2CD2_uc002yzx.1_Missense_Mutation_p.S4F	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	159						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ATGGAAAGGGGAGAGCCGCAT	0.537000														55			9		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673885	113673885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:113673885G>A	uc001poh.3	-	22	2890	c.2857C>T	c.(2857-2859)Ctt>Ttt	p.L953F	USP28_uc001pog.3_Missense_Mutation_p.L629F|USP28_uc010rwy.2_Missense_Mutation_p.L796F|USP28_uc001poi.3_Missense_Mutation_p.L276F	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	953					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAAACCAGAAGGCATTTTCTT	0.458000														119			11		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272349	52272349	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52272349C>T	uc002pxr.3	+	1	483	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_uc002pxs.4_Silent_p.I146I|FPR2_uc010epf.3_Silent_p.I146I|FPR2_uc021uyp.1_Silent_p.I146I	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	146					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478000														77			10		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870220	131870220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:131870220C>T	uc003vra.4	-	15	3225	c.2996G>A	c.(2995-2997)cGa>cAa	p.R999Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	999	IPT/TIG 2.					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						GGATGGAGATCGCCTGGAGGG	0.592000														76			15		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136455	90136455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:90136455G>A	uc003kju.3	+	77	16768	c.16672G>A	c.(16672-16674)Gat>Aat	p.D5558N	GPR98_uc003kjt.3_Missense_Mutation_p.D3264N|GPR98_uc003kjw.3_Missense_Mutation_p.D1219N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5558					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)		TTCTGGAAAGGATTTTGTGAT	0.398000														67			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62043468	62043468	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:62043468G>A	uc002jds.1	-	7	1313	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	412					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTACCAGCTGGAAGAGGTTCT	0.612000														10			4		0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37637630	37637630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:37637630G>A	uc003arc.3	-	1	221	c.104C>T	c.(103-105)aCc>aTc	p.T35I		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	35					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	p.T35T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						AACTCACACGGTGGGGATGTA	0.617000														218			21		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241964495	241964495	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:241964495T>C	uc001hzg.2	+	26	3431	c.3224T>C	c.(3223-3225)tTc>tCc	p.F1075S	WDR64_uc021pli.1_Missense_Mutation_p.F628S	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1075										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GCTTCTTCCTTCTTCCCAGCT	0.388000														67			8		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242285599	242285599	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242285599C>T	uc002wbh.3	+	13	1353	c.891C>T	c.(889-891)ctC>ctT	p.L297L	SEPT2_uc002wbc.3_Silent_p.L287L|SEPT2_uc002wbd.3_Silent_p.L287L|SEPT2_uc002wbf.3_Silent_p.L287L|SEPT2_uc002wbg.3_Silent_p.L287L|SEPT2_uc010zop.2_Silent_p.L322L	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	287					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGCAGGATCTCCAGGAGGTGA	0.478000														71			8		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233271	28233271	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28233271C>T	uc009xky.3	-	11	1721	c.1623G>A	c.(1621-1623)gtG>gtA	p.V541V	ARMC4_uc010qds.2_Silent_p.V66V|ARMC4_uc010qdt.2_Silent_p.V233V|ARMC4_uc001itz.3_Silent_p.V541V|ARMC4_uc010qdu.1_Silent_p.V233V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	541							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAAGTATATTCACCATAATTG	0.418000														54			11		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102054994	102054994	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:102054994C>T	uc001tii.3	+	17	2051	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	MYBPC1_uc001tig.3_Silent_p.I662I|MYBPC1_uc010svr.2_Silent_p.I637I|MYBPC1_uc010svs.2_Silent_p.I637I|MYBPC1_uc001tij.3_Silent_p.I637I|MYBPC1_uc010svt.2_Silent_p.I625I|MYBPC1_uc010svu.2_Silent_p.I618I|MYBPC1_uc001tik.3_Silent_p.I611I|MYBPC1_uc001tih.3_Silent_p.I662I|MYBPC1_uc010svq.2_Silent_p.I624I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	637	Fibronectin type-III 1.				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						ACTGGTGTATCATGAACTGGG	0.483000														46			9		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922538	55922538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:55922538C>T	uc021wzo.1	-	12	2583	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.E811K|ERC2_uc003dht.1_Missense_Mutation_p.E294K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	815						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.Q814H(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCATCCAGTTCCTGTCTGGTC	0.512000														128			12		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49371642	49371642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:49371642C>T	uc001jgi.3	-	27	3941	c.3610G>A	c.(3610-3612)Gat>Aat	p.D1204N	FRMPD2_uc001jgh.3_Missense_Mutation_p.D1172N|FRMPD2_uc001jgj.3_Missense_Mutation_p.D1173N|FRMPD2_uc001jgf.3_Missense_Mutation_p.D215N|FRMPD2_uc001jgg.3_Missense_Mutation_p.D156N|FRMPD2_uc001jgk.3_Missense_Mutation_p.D156N	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1204					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCCTCTTGATCCAGGATGGGG	0.517000														76			6		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714114	32714114	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32714114C>T	uc003obx.3	+	3	769	c.711C>T	c.(709-711)gtC>gtT	p.V237V		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	237					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGCACTGTCTTCATCATCC	0.532000														103			7		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888154	34888154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34888154C>T	uc003teh.1	+	7	1032	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.L302F|NPSR1_uc010kwt.1_Missense_Mutation_p.L149F|NPSR1_uc010kwu.1_Missense_Mutation_p.L92F|NPSR1_uc010kwv.1_Missense_Mutation_p.L236F|NPSR1_uc003tei.1_Missense_Mutation_p.L302F|NPSR1_uc010kww.1_Missense_Mutation_p.L291F|NPSR1_uc011kar.1_Missense_Mutation_p.L236F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	302						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTTCAACCTCCTTCCAGACAC	0.493000														243			37		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141414102	141414102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141414102G>A	uc003vwn.2	+	1	842	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FLJ40852_uc011krh.1_Non-coding_Transcript|FLJ40852_uc010lnm.2_Non-coding_Transcript|FLJ40852_uc010lnn.2_Non-coding_Transcript|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	146					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTCAAGGATGAGATGACCTC	0.458000														59			6		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55182888	55182888	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:55182888C>T	uc010wnl.2	+	2	345	c.63C>T	c.(61-63)ggC>ggT	p.G21G	AKAP1_uc002iux.3_Silent_p.G21G|AKAP1_uc021uak.1_Silent_p.G21G|AKAP1_uc010dcm.3_Silent_p.G21G|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	21					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding	p.L20L(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGCTCCTCGGCTGGTGGTGGT	0.577000														48			4		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567912	5567913	+	Splice_Site	DNP	CC	TT	TT	rs11546908		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:5567912_5567913CC>TT	uc003sot.4	-	4	886	c.802_splice	c.e4+1	p.G268_splice	ACTB_uc003sor.4_Splice_Site_p.G146_splice|ACTB_uc003soq.4_Splice_Site_p.G146_splice	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	268					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTCCACTCACCCAGGAAGGAAG	0.609000														109			13		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131640552	131640552	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131640552G>A	uc021qav.1	-	12	1232	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	EBF3_uc001lki.2_Silent_p.I391I	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	400					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCTTCAAGATGATCTCCTGCA	0.672000														101			9		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042224	86042224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:86042224C>T	uc003ycw.3	+	10	1905	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Missense_Mutation_p.S473F|LRRCC1_uc010maa.2_Missense_Mutation_p.S267F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S546F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	566					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTAGAACTTCCCTTCATCGA	0.368000														88			12		0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82665378	82665378	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:82665378G>A	uc003ycl.3	+	1	444	c.270G>A	c.(268-270)gaG>gaA	p.E90E		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	90	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CTACCATTGAGTTCCAGAGAG	0.443000														56			3		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034521	94034521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:94034521G>A	uc003ung.1	+	9	914	c.443G>A	c.(442-444)gGa>gAa	p.G148E	COL1A2_uc011kib.1_Intron|COL1A2_uc022ahm.1_Non-coding_Transcript|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	148					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCACCCTGGAAAACCCGGA	0.423000										HNSCC(75;0.22)				38			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788855	13788856	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13788855_13788856CC>AT	uc003jfd.2	-	50	8658_8659	c.8616_8617GG>AT	c.(8614-8619)gtggat>gtATat	p.D2873Y		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2873					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCAAGAAATCCACAAAATATG	0.401000									Kartagener syndrome					103			13		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900501	76900501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76900501G>A	uc001oyb.2	+	27	3888	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	MYO7A_uc010rsm.1_Missense_Mutation_p.E1195K|MYO7A_uc001oyc.2_Missense_Mutation_p.E1206K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E417K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1206	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.E1206K(2)|p.S1205S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGCCCCCTCCGAGAAGTTTGT	0.622000														126			15		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281630	103281630	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103281630C>T	uc002tca.3	+	2	967	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	275						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGCAGGAATCGCCAACTTCT	0.433000														175			6		0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179137190	179137190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:179137190G>A	uc003fjv.4	-	3	480	c.200C>T	c.(199-201)tCc>tTc	p.S67F	GNB4_uc003fju.4_5'Flank	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	67					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TACAAACCTGGAATCGTATCC	0.363000														104			15		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216491	78216491	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:78216491C>T	uc022bzl.1	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I	P2RY10_uc004ede.3_Silent_p.I158I|P2RY10_uc004edf.3_Silent_p.I158I	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	158						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I158I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCATCTGGATCGTTGTGGGGA	0.493000														25			5		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530936	80530936	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:80530936G>A	uc021vjt.1	-	0	9	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Silent_p.F3F	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	3						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGAGCAGCAGGAAATCCATTA	0.557000										HNSCC(69;0.2)				112			7		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042276	242042276	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:242042276T>C	uc021plj.1	+	10	2054	c.1740T>C	c.(1738-1740)ttT>ttC	p.F580F	EXO1_uc001hzh.3_Silent_p.F580F|EXO1_uc009xgq.3_Silent_p.F579F|EXO1_uc021plk.1_Silent_p.F580F	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	580					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAACAGTGTTTACAGATGAAG	0.413000								Editing and processing nucleases						103			7		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68459033	68459033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:68459033G>A	uc003hde.4	+	7	867	c.785G>A	c.(784-786)gGa>gAa	p.G262E	STAP1_uc003hdf.3_Missense_Mutation_p.G262E	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	262	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGACTCGAGGAAATTTAAGA	0.343000														111			9		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116037780	116037780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:116037780C>T	uc001lbl.1	+	6	995	c.674C>T	c.(673-675)tCg>tTg	p.S225L	VWA2_uc001lbk.1_Missense_Mutation_p.S225L|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	225						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTCAGCAGCTCGGCCATCTGC	0.647000														51			8		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304435	3304435	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3304435C>T	uc002cun.1	-	1	673	c.633G>A	c.(631-633)ggG>ggA	p.G211G	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	211					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTGCAGCCTCCCCGCGGAGC	0.741000														22			5		0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34934591	34934591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:34934591C>T	uc002hnb.3	+	6	1136	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	GGNBP2_uc002hna.3_Missense_Mutation_p.R274C|GGNBP2_uc002hnc.1_Missense_Mutation_p.R103C	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	274					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.R274S(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCTTTTGGGTCGTGCTGAGCC	0.438000														223			17		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025680	130025680	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:130025680G>A	uc003vpx.3	+	9	1060	c.988_splice	c.e9-1	p.D330_splice	CPA1_uc003vpw.2_Splice_Site_p.D164_splice	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	330					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TTTTGTCCAGGATCAGCTTTC	0.567000														35			4		0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21162055	21162055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21162055C>T	uc021rok.1	+	0	332	c.332C>T	c.(331-333)tCc>tTc	p.S111F	ANG_uc001vxw.4_Missense_Mutation_p.S111F|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Intron|ANG_uc001vxz.3_Missense_Mutation_p.S111F|RNASE4_uc001vya.3_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA.	111					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CATGGAGGTTCCCCCTGGCCT	0.478000														97			10		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469918	52469918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52469918G>A	uc003dea.1	-	15	2050	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	684					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGCTCCGGAGGGAACAGGTTG	0.642000														127			11		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118533403	118533403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:118533403C>T	uc001tws.3	-	1	630	c.296G>A	c.(295-297)gGa>gAa	p.G99E		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	99	Ig-like C2-type 1.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGTGTAGATTCCCTCATCTCC	0.597000														142			10		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696990	111696990	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:111696990A>T	uc003puy.4	-	12	2909	c.2568T>A	c.(2566-2568)aaT>aaA	p.N856K	REV3L_uc003pux.4_Missense_Mutation_p.N778K|REV3L_uc003puz.4_Missense_Mutation_p.N778K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	856					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTATAAAATTATCTTTTG	0.348000								DNA polymerases (catalytic subunits)						53			3		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20330972	20330972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20330972C>T	uc002dgv.3	-	6	1069	c.986G>A	c.(985-987)aGc>aAc	p.S329N	GP2_uc002dgw.3_Missense_Mutation_p.S326N|GP2_uc002dgx.3_Missense_Mutation_p.S182N|GP2_uc002dgy.3_Missense_Mutation_p.S179N	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	329	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTTGGAGGCTGACTTTCAT	0.468000														111			6		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913806	67913806	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67913806T>C	uc002eur.3	+	15	2114	c.1875T>C	c.(1873-1875)agT>agC	p.S625S	EDC4_uc010cer.3_Silent_p.S244S|EDC4_uc010vkg.1_Silent_p.S557S|EDC4_uc002eus.3_Silent_p.S355S|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	625	Ser-rich.				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)		gcagcagcagtagcagcagcT	0.597000														43			3		0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179989173	179989174	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179989173_179989174AC>CT	uc002uni.4	-	10	1234_1235	c.1084_1085GT>AG	c.(1084-1086)gtt>AGt	p.V362S	SESTD1_uc002unh.4_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	362					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCGATAACAAACATCACTAAGT	0.416000														66			7		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	31973434	31973434	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31973434G>A	uc002ect.3	+	0		c.26G>A								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		GAGTCTGGGGGAGGCTTGGTC	0.562000														116			11		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31351016	31351016	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:31351016C>T	uc002hht.3	-	5	2085	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	ASIC2_uc002hhu.3_Silent_p.K353K	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	353					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AATTGCTGTCCTTTTCCGCCA	0.542000														181			12		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933591	94933591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94933591C>T	uc001ydf.3	-	2	972	c.811G>A	c.(811-813)Gag>Aag	p.E271K	SERPINA9_uc001yde.3_Missense_Mutation_p.E171K|SERPINA9_uc010avc.3_Missense_Mutation_p.E122K|SERPINA9_uc001ydg.3_Missense_Mutation_p.E235K|SERPINA9_uc001ydh.1_Missense_Mutation_p.E271K|SERPINA9_uc001ydi.1_Missense_Mutation_p.E235K	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	253					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CAGTTCAGCTCTGTATCCACC	0.517000														50			5		0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7194115	7194115	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrY:7194115C>T	uc004fre.3	+	2		c.845C>T								Homo sapiens protein kinase, Y-linked, pseudogene (PRKY), non-coding RNA.									p.I168I(2)		large_intestine(2)|lung(3)|skin(1)	6						CCAAGGAGATCGTCTACAGGG	0.547000														43			14		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429196	48429196	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:48429196C>T	uc001jfb.3	-	1	1118	c.690G>A	c.(688-690)agG>agA	p.R230R	GDF10_uc009xnp.3_Silent_p.R229R|GDF10_uc009xnq.2_Silent_p.R230R	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	230					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCCCCGGGTCCCTCTCCTCAG	0.687000														24			3		0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1519997	1519997	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1519997T>C	uc002fsu.3	-	2	534	c.227A>G	c.(226-228)aAc>aGc	p.N76S	SLC43A2_uc002fsv.3_Missense_Mutation_p.N76S|SLC43A2_uc002fsw.3_Missense_Mutation_p.N76S|SLC43A2_uc002fsx.3_Missense_Mutation_p.N76S	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	76					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAGCCAGCCGTTCATCCAGCT	0.602000														57			7		0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450225	46450225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46450225C>T	uc010hjg.3	+	1	804	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	CCRL2_uc003cpp.4_Missense_Mutation_p.L219F|CCRL2_uc010hjf.3_Missense_Mutation_p.L219F|CCRL2_uc021wxc.1_Missense_Mutation_p.L219F	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	219					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	p.R230M(1)		lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTTTACATTTCTCTATGTGCA	0.403000														139			20		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72739297	72739297	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72739297C>T	uc010wrc.2	+	3	481	c.291C>T	c.(289-291)ttC>ttT	p.F97F	RAB37_uc002jlc.2_Silent_p.F85F|RAB37_uc002jld.2_Silent_p.F85F|RAB37_uc010dfu.3_Silent_p.F85F|RAB37_uc010wrb.2_Silent_p.F60F|RAB37_uc002jlk.3_Silent_p.F92F|RAB37_uc010wre.2_Silent_p.F55F	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	92					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGGAACGGTTCCGAAGCGTCA	0.602000														216			19		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7531995	7531995	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7531995G>A	uc002mgi.3	+	14	2689	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	ARHGEF18_uc010xjm.1_Silent_p.L654L|ARHGEF18_uc002mgh.3_Silent_p.L654L|ARHGEF18_uc002mgj.1_Silent_p.L455L	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	812					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGCTGCTCCTGAACCTTCAGG	0.667000														146			12		0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354502	120354502	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:120354502G>A	uc001ldp.1	-	1	394	c.255C>T	c.(253-255)atC>atT	p.I85I	PRLHR_uc021pzm.1_Silent_p.I85I	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	85					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCACCCGCGCGATCACCAGCA	0.662000														134			14		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24207478	24207478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24207478G>A	uc003xdy.3	+	18	2175	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.D385N	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	698					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAGAAGAAAGATCAGAGGTG	0.413000														69			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222568	140222568	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140222568C>T	uc003lhs.2	+	0	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	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_Silent_p.F554F	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.701000														156			12		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30021292	30021292	+	Silent	SNP	C	T	T	rs148944042		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:30021292C>T	uc002dvn.3	-	1	443	c.252G>A	c.(250-252)tcG>tcA	p.S84S	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.S84S|DOC2A_uc002dvp.3_Silent_p.S84S|DOC2A_uc002dvq.3_Silent_p.S84S	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	84	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGGCATCATCCGAGTCATAGC	0.701000														92			8		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35763653	35763653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35763653C>T	uc003jjo.3	+	25	3761	c.3650C>T	c.(3649-3651)tCt>tTt	p.S1217F	SPEF2_uc003jjp.1_Missense_Mutation_p.S703F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1217					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATCCATTTCTCTGGAAACA	0.358000														46			3		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239110	170239110	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:170239110T>G	uc003mau.3	+	9	1369	c.1171T>G	c.(1171-1173)Ttc>Gtc	p.F391V	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	391			F -> L (in dbSNP:rs1063310).			cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCGACAAGTTCAAGTTTGT	0.403000														49			8		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81954867	81954867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81954867C>T	uc002fgt.3	+	20	2478	c.2300C>T	c.(2299-2301)cCg>cTg	p.P767L	PLCG2_uc010chg.1_Missense_Mutation_p.P767L	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	767					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAATCAATCCGTCCATGGTA	0.438000														58			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990047	89990047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:89990047C>T	uc003kju.3	+	32	7570	c.7474C>T	c.(7474-7476)Ctt>Ttt	p.L2492F	GPR98_uc003kjt.3_Missense_Mutation_p.L198F|GPR98_uc003kjv.3_Missense_Mutation_p.L92F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2492					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)		GGTAGCATCTCTTTTTAGTGG	0.493000														39			7		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235751	3235751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3235751C>T	uc004crg.4	-	5	6128	c.5971G>A	c.(5971-5973)Gtg>Atg	p.V1991M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1991	Ig-like C2-type 4.					extracellular region		p.V1991A(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTGCCACACCCTCCTGTCA	0.582000														22			6		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112360	248112360	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248112360C>T	uc001idt.1	+	0	201	c.201C>T	c.(199-201)ctC>ctT	p.L67L	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCTCTCCCTCATTGACCTAA	0.443000														337			41		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135368926	135368926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:135368926C>T	uc001lno.2	-	11	952	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E155K|SYCE1_uc009ybn.2_Missense_Mutation_p.E283K|SYCE1_uc001lnn.2_Missense_Mutation_p.E247K	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	283	Gln-rich.				cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCATGCTTTTCCAGCTCTTCC	0.562000														83			5		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873956	24873957	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:24873956_24873957GG>AA	uc001isb.2	-	25	5748_5749	c.5261_5262CC>TT	c.(5260-5262)tcc>tTT	p.S1754F	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1753	Interaction with CTNNA1.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCTGTTTTTCGGATTCGCCTCT	0.441000														93			8		0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41349794	41349794	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41349794G>A	uc002opl.4	-	8	1413	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	464					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GTGACTGGGAGGACTTGAGGC	0.567000														107			17		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63327644	63327644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63327644C>T	uc001nxg.1	-	1	90	c.31G>A	c.(31-33)Gga>Aga	p.G11R		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	11					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATCAGGTCTCCAAGTCTCGGT	0.542000														146			16		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16914225	16914225	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16914225G>A	uc009vos.1	-	9	1449	c.561C>T	c.(559-561)gcC>gcT	p.A187A	NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	187	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTTACCTGGGGGCAGATGATT	0.438000														537			24		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161134085	161134085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161134085C>T	uc003qtm.4	+	4	587	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	159	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.D158N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACAACGATCCGCAGGGGCC	0.483000														132			9		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283540	152283541	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152283540_152283541AC>CT	uc001ezu.1	-	2	3857_3858	c.3821_3822GT>AG	c.(3820-3822)agt>aAG	p.S1274K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1274	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCACTGTCACTGTCCTGGCT	0.559000									Ichthyosis					313			35		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177244	153177244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:153177244C>T	uc001fbl.3	+	1	171	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	LELP1_uc021ozv.1_Missense_Mutation_p.P21S	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	21	Cys/Pro-rich.							p.P21S(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACTGCGATCCCAAGTGTGA	0.443000														111			11		0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113253678	113253678	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:113253678G>A	uc001ect.1	-	6	1089	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Silent_p.I148I	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	354	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	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)		CCTCCAGCTCGATCTTTTTGT	0.562000														409			57		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50118286	50118286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50118286G>A	uc001jhd.3	-	1	862	c.782C>T	c.(781-783)tCc>tTc	p.S261F	WDFY4_uc001jha.4_Intron	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	261						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCTACTCTAGGAAGATGTCAA	0.502000														92			4		0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088544	43088544	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:43088544G>A	uc001jaf.1	-	4	1969	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.F506F|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	618						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACTTCTGGCAGAAGGTTTTTC	0.373000														91			5		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941776	22941776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:22941776G>A	uc021urt.1	-	3	1090	c.935C>T	c.(934-936)cCc>cTc	p.P312L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCATTTGTAGGGTTTCTCTCC	0.368000														61			8		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97207282	97207282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:97207282C>T	uc004aur.3	+	5	816	c.547C>T	c.(547-549)Ccg>Tcg	p.P183S	HIATL1_uc011luh.2_Missense_Mutation_p.P118S	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	183					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TGTCAGCAGCCCGGCCATTGG	0.557000														168			31		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148950994	148950994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:148950994C>T	uc003wfp.3	+	4	1104	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GATCACCTTCCGCTATAAGCA	0.587000														65			5		0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063900	74063900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:74063900G>A	uc003pgs.2	-	0	100	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	17					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						AGGTCTTCGGGAACTTTCACC	0.582000														74			6		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71384527	71384527	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71384527A>G	uc003hfk.1	+	1	122	c.33A>G	c.(31-33)ctA>ctG	p.L11L	AMTN_uc010ihy.1_Silent_p.L11L	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	11					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		p.L11L(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTTGTCTTCTAGGATCAACTC	0.388000														103			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488743	128488743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128488743G>A	uc003vnz.4	+	26	4918	c.4709G>A	c.(4708-4710)gGc>gAc	p.G1570D	FLNC_uc003voa.4_Missense_Mutation_p.G1570D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1570					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGGACGCGGGCGAGGGGTTG	0.657000														156			8		0	0	1	0	0
ZFP1	162239	broad.mit.edu	37	16	75203589	75203589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:75203589C>T	uc002fdq.3	+	3	705	c.581C>T	c.(580-582)tCc>tTc	p.S194F	ZFP1_uc010cgt.3_Missense_Mutation_p.S161F|ZFP1_uc002fdo.3_Missense_Mutation_p.S194F|ZFP1_uc002fdp.3_Missense_Mutation_p.S139F|ZFP1_uc010cgs.3_Missense_Mutation_p.S139F	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	Homo sapiens zinc finger protein 1 homolog (mouse) (ZFP1), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AAGGCTTTCTCCTTTAAGTCA	0.373000														41			7		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91660864	91660864	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:91660864C>T	uc003ulg.3	+	15	4509	c.4284C>T	c.(4282-4284)atC>atT	p.I1428I	AKAP9_uc003ule.2_Silent_p.I1440I|AKAP9_uc003ulf.3_Silent_p.I1428I|AKAP9_uc003uli.3_Silent_p.I1053I	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1440					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)			AAACAAATATCGTTAAGTTGC	0.289000			T	BRAF	papillary thyroid									84			5		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943663	9943663	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9943663G>A	uc010uym.2	-	5	1588	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	GRIN2A_uc002czo.4_Silent_p.T426T|GRIN2A_uc010uyn.2_Silent_p.T269T|GRIN2A_uc002czr.4_Silent_p.T426T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	426					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T426T(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACACGTCTCGGTCAGGGGGT	0.542000														87			6		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775066	2775066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2775066C>T	uc002wgu.3	-	13	2049	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	CPXM1_uc010gas.3_Missense_Mutation_p.D585N	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	659					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCCAATAATCCCCGCCCCAC	0.597000														73			6		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124632455	124632455	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:124632455G>C	uc003ehq.2	-	6	1074	c.1035C>G	c.(1033-1035)tgC>tgG	p.C345W		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	345	EGF-like 2.					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						GGTCAGATTTGCAATCGCATG	0.423000														92			14		0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546417	112546417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:112546417G>A	uc003dzi.1	-	2	453	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CD200R1L_uc010hqf.1_Missense_Mutation_p.S55F|CD200R1L_uc011bhw.1_Missense_Mutation_p.S55F	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	76	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTTTGTGCAGGAAGGCTGGCC	0.418000														70			8		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869338	174869338	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:174869338T>C	uc003mcz.3	-	1	1710	c.765A>G	c.(763-765)caA>caG	p.Q255Q	DRD1_uc021yia.1_Silent_p.Q255Q	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	255					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AACTTTCCGGTTGAGAACATT	0.478000														80			6		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765534	113765534	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113765534C>T	uc010yxr.2	+	3	390	c.390C>T	c.(388-390)gtC>gtT	p.V130V		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	130					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TCATCGCTGTCAGCTCTGAAG	0.517000														65			4		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136252	55136252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55136252C>T	uc010rif.2	+	0	893	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTGATAAATCCATGACTGTA	0.403000														179			6		0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95076677	95076677	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:95076677T>A	uc022bjx.1	-	6	2567	c.2230A>T	c.(2230-2232)Aat>Tat	p.N744Y	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.N676Y	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	744					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTGACGAATTACTAATAGAA	0.438000														32			3		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231452	40231452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:40231452C>T	uc003cka.3	+	9	1298	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.S388F|MYRIP_uc010hhw.3_Missense_Mutation_p.S299F|MYRIP_uc011ayz.2_Missense_Mutation_p.S201F|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	388	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGTGTGGCATCTGCCTACGAT	0.637000														58			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065737	9065737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9065737G>A	uc002mkp.3	-	2	21913	c.21709C>T	c.(21709-21711)Cag>Tag	p.Q7237*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7239	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						GACTCTTTCTGAATTCTGCTA	0.468000														129			8		0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779399	52779399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52779399C>T	uc003jpd.3	+	2	701	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	FST_uc003jpc.3_Missense_Mutation_p.R115C	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	115	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAACAAACCCCGCTGCGTCTG	0.512000														71			7		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902820	22902820	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:22902820C>T	uc001bfx.1	+	2	395	c.270C>T	c.(268-270)ccC>ccT	p.P90P	EPHA8_uc001bfw.3_Silent_p.P90P	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	90						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTGGGTCCCCCGAGACGGCG	0.612000														83			7		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567436	5567436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:5567436G>A	uc001iie.1	+	0	513	c.388G>A	c.(388-390)Gac>Aac	p.D130N	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	130	EF-hand 4.						calcium ion binding	p.D130N(2)		endometrium(3)|lung(2)	5						CCGGGCCGCGGACACGGACGG	0.682000														63			4		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50763788	50763788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:50763788G>A	uc002egm.1	+	10	3131	c.3026G>A	c.(3025-3027)aGg>aAg	p.R1009K	NOD2_uc010vgq.1_Missense_Mutation_p.R54K	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	1009					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCCTTGAAAGGAATGACACC	0.507000														58			6		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43897554	43897554	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43897554C>T	uc002zbg.3	-	7	679	c.574_splice	c.e7-1	p.E192_splice		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	192					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCTCCTCTTTCCTATTTTAAG	0.398000														94			4		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52713040	52713040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52713040C>T	uc001saf.2	-	1	556	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	165	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGAGTCTCGATGTAGCCA	0.602000														178			18		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131104275	131104275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:131104275G>A	uc003yta.2	-	24	2744	c.2516C>T	c.(2515-2517)tCc>tTc	p.S839F	ASAP1_uc003ysz.2_Missense_Mutation_p.S650F|ASAP1_uc011liw.2_Missense_Mutation_p.S832F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	839	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGAGGGTCGGATAGGGTTCT	0.592000														134			10		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77211023	77211023	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:77211023C>T	uc010xfg.2	+	4	2112	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	NFATC1_uc002lnc.1_Silent_p.I553I|NFATC1_uc010xff.1_Silent_p.I553I|NFATC1_uc002lnd.3_Silent_p.I553I|NFATC1_uc002lne.3_Silent_p.I81I|NFATC1_uc010xfh.2_Silent_p.I553I|NFATC1_uc010xfi.1_Silent_p.I540I|NFATC1_uc010xfj.2_Silent_p.I81I|NFATC1_uc002lnf.3_Silent_p.I540I|NFATC1_uc002lng.3_Silent_p.I540I|NFATC1_uc010xfk.2_Silent_p.I540I	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	553	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGACGGACATCGGGAGGAAGA	0.567000														191			10		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324876	72324876	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:72324876C>T	uc002atl.4	-	2	1367	c.894G>A	c.(892-894)aaG>aaA	p.K298K	MYO9A_uc010biq.3_5'UTR|MYO9A_uc002ato.3_Silent_p.K298K|MYO9A_uc002atn.1_Silent_p.K298K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	298	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTGAATAAACTTCCCAAAAC	0.333000														41			3		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113902	94113902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:94113902G>A	uc001pet.2	-	3	857	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	229						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTGGCTCAGGGAAGTCTGGC	0.572000														78			6		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885209	39885209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:39885209C>T	uc001zkh.3	+	17	2955	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	THBS1_uc010bbi.3_Nonsense_Mutation_p.R398*	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	926					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGGCGATGGTCGAGGTGATGC	0.433000														41			5		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134986725	134986725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:134986725C>T	uc004ezh.3	+	3	477	c.310C>T	c.(310-312)Cct>Tct	p.P104S	SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Missense_Mutation_p.P104S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	104										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCCACCATGGCCTGGTAATAT	0.428000														53			10		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115594656	115594656	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:115594656C>T	uc003vhj.2	-	4	676	c.423G>A	c.(421-423)aaG>aaA	p.K141K	TFEC_uc003vhm.2_Silent_p.K74K|TFEC_uc003vhk.2_Silent_p.K112K|TFEC_uc003vhl.4_Silent_p.K112K|TFEC_uc011kmw.2_Silent_p.K231K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGTGGTTGTCCTTTTTTTGTC	0.333000														36			3		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918926	16918926	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16918926G>A	uc002neu.4	+	17	4688	c.4266G>A	c.(4264-4266)tgG>tgA	p.W1422*	NWD1_uc002net.4_Nonsense_Mutation_p.W1287*|NWD1_uc002nev.4_Nonsense_Mutation_p.W1216*|NWD1_uc021uqg.1_Nonsense_Mutation_p.W1287*	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1422							ATP binding			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						CACGCAAGTGGAAATTCGAGA	0.567000														73			4		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160128845	160128845	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160128845G>A	uc001fve.4	+	4	1058	c.579G>A	c.(577-579)gtG>gtA	p.V193V	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	193					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E192E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TACAAGAGGTGGTGTTGGGAG	0.493000														69			7		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951283	73951283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:73951283G>A	uc003pgo.3	-	4	1184	c.683C>T	c.(682-684)tCg>tTg	p.S228L	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.4_Missense_Mutation_p.S155L	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	228						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ATGGAAACCCGAACAACCAAT	0.493000														93			7		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40708576	40708576	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40708576C>T	uc011aor.2	+	17	4714	c.4503C>T	c.(4501-4503)acC>acT	p.T1501T	TNRC6B_uc003aym.3_Silent_p.T697T|TNRC6B_uc003ayn.4_Silent_p.T1391T|TNRC6B_uc003ayo.3_Silent_p.T1248T	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1501					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCTATGTCACCCCAGGAAGTG	0.478000														247			32		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714957	55714957	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55714957T>C	uc010spi.2	+	0	574	c.574T>C	c.(574-576)Ttc>Ctc	p.F192L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGACACAAAATTCTTAGAGGT	0.338000														43			5		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294253	128294253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:128294253C>T	uc003qbk.3	-	28	4547	c.4180G>A	c.(4180-4182)Gaa>Aaa	p.E1394K	PTPRK_uc010kfc.3_Missense_Mutation_p.E1401K|PTPRK_uc003qbj.3_Missense_Mutation_p.E1395K|PTPRK_uc011ebu.2_Missense_Mutation_p.E1417K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1394	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1395K(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTCACCATTTCAACAACGATG	0.468000														123			12		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20180804	20180804	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:20180804G>A	uc021qez.1	-	1	402	c.399C>T	c.(397-399)ccC>ccT	p.P133P	DBX1_uc021qey.1_Silent_p.P134P	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	134					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGAAGGTCTTGGGAGGGACGC	0.542000														118			8		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119567939	119567939	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:119567939G>A	uc004bjt.2	-	11	2316	c.2215C>T	c.(2215-2217)Caa>Taa	p.Q739*	ASTN2_uc022bml.1_Nonsense_Mutation_p.Q435*|ASTN2_uc022bmm.1_Nonsense_Mutation_p.Q439*	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	790	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTTGGCCTTGGTTCACATGC	0.498000														104			19		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428937	190428937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:190428937G>A	uc002uqp.4	-	6	1126	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	259					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CCCTCCAGGGGTTTTGGCTCA	0.408000														82			4		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371212	129371212	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:129371212C>T	uc021zfb.1	+	1	367	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.Q88*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.Q88*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	88	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATCTGCAATCAAAACAGCAG	0.448000														74			6		0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145579670	145579670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145579670G>A	uc003zcb.3	-	7	1506	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.S204F|FBXL6_uc003zca.3_Missense_Mutation_p.S471F|FBXL6_uc010mfx.3_Missense_Mutation_p.S238F|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	477					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAGGTTAAGAGAGCACAGGGC	0.627000														99			4		0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17723577	17723577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:17723577G>A	uc002gru.2	-	1	544	c.350C>T	c.(349-351)tCc>tTc	p.S117F	SREBF1_uc002grp.2_5'Flank|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_5'UTR|SREBF1_uc002grs.2_Missense_Mutation_p.S93F|SREBF1_uc002grt.2_Missense_Mutation_p.S147F|SREBF1_uc010cpp.1_Missense_Mutation_p.S93F|SREBF1_uc010cpq.1_Missense_Mutation_p.S117F	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	117	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGCCCAGGGGAGAAAGCGGG	0.662000														106			8		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791732	220791732	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:220791732C>G	uc009xdw.3	+	7	1230	c.633C>G	c.(631-633)aaC>aaG	p.N211K	MARK1_uc001hmn.4_Missense_Mutation_p.N211K|MARK1_uc010pun.2_Missense_Mutation_p.N211K|MARK1_uc001hmm.4_Missense_Mutation_p.N189K	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	211	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G210G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAGTTGGGAACAAATTGGACA	0.413000														37			5		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66506047	66506047	+	Silent	SNP	G	A	A	rs147553785		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:66506047G>A	uc002lkk.2	+	4	934	c.711G>A	c.(709-711)acG>acA	p.T237T	CCDC102B_uc002lki.2_Silent_p.T237T|CCDC102B_uc002lkj.1_Silent_p.T237T	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	237										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)				ACGGTGAAACGAAAACTGGGC	0.373000														66			8		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604936	2604936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2604936G>A	uc002wgf.1	+	16	2215	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	TMC2_uc002wgg.1_Missense_Mutation_p.D718N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	734						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAATGTACGATGTCCTCCA	0.507000														73			4		0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15627669	15627669	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:15627669C>T	uc003nbm.3	-	4	449	c.260G>A	c.(259-261)tGg>tAg	p.W87*	DTNBP1_uc003nbl.3_Nonsense_Mutation_p.W6*|DTNBP1_uc010jph.3_Nonsense_Mutation_p.W74*|DTNBP1_uc003nbp.3_Nonsense_Mutation_p.W87*	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	87					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TTTCTTCTCCCAGTGCGCAGA	0.493000									Hermansky-Pudlak syndrome					32			3		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276920	152276920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276920C>T	uc001ezu.1	-	2	10478	c.10442G>A	c.(10441-10443)gGa>gAa	p.G3481E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGACTGCCC	0.562000									Ichthyosis					471			40		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785536	134785536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:134785536C>T	uc003law.4	-	1	295	c.94G>A	c.(94-96)Gat>Aat	p.D32N	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.D32N	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	32										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTGGTATCATGCTGCAGC	0.652000														101			11		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:86468384G>A	uc003uid.3	+	3	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.M390I|GRM3_uc010leh.3_Missense_Mutation_p.M110I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	518					synaptic transmission	integral to plasma membrane		p.M518I(2)|p.E517K(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)	CCAATGAAATGAAGAATATGC	0.522000														95			13		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237103	96237103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:96237103C>T	uc001vmk.3	-	21	3263	c.2411G>A	c.(2410-2412)gGa>gAa	p.G804E	DZIP1_uc001vmj.3_Missense_Mutation_p.G280E|DZIP1_uc001vml.3_Missense_Mutation_p.G785E|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	804					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGATTTTTTTCCCAAAGATAT	0.428000														55			6		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625867	20625867	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:20625867G>A	uc001mqd.3	+	2	849	c.576G>A	c.(574-576)ggG>ggA	p.G192G	SLC6A5_uc009yic.3_Intron	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	192					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGCCCGAGGGAACTGGTCCA	0.597000														197			17		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867198	6867198	+	Silent	SNP	C	T	T	rs139785865	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6867198C>T	uc001met.1	+	0	285	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCATCTCCTTCCTTGGCTGTG	0.498000														52			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222697	140222697	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140222697G>A	uc003lhs.2	+	0	1791	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	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_Silent_p.V597V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	610	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R596Q(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)			TGCGCGCAGTGGACGCCGACT	0.692000														110			7		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604089	111604089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111604089G>A	uc010hqa.3	+	1	1576	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E416K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E389K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E389K|PHLDB2_uc003dye.4_Missense_Mutation_p.E389K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E389K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	389						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGATCTGTGGAATTTGATGA	0.512000														42			6		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763274	42763274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:42763274G>A	uc001uyl.2	+	14	1808	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	DGKH_uc010tfh.2_Missense_Mutation_p.E581K|DGKH_uc001uym.2_Missense_Mutation_p.E581K|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.E336K|DGKH_uc001uyo.2_Missense_Mutation_p.E445K|DGKH_uc010tfj.2_Missense_Mutation_p.E445K|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	581					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CATTGTGGAAGAAGATGCTGT	0.532000														50			5		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666116	133666116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:133666116C>T	uc003eqa.4	-	8	1553	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	SLCO2A1_uc011blv.2_Missense_Mutation_p.E246K	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	427					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.A426A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGGTAGACTTCGGCCACAGTT	0.498000														59			9		0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680754	85680754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:85680754C>T	uc001tae.4	+	2	659	c.655C>T	c.(655-657)Cca>Tca	p.P219S		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	219					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGACAGCTACCCACAGGTATG	0.358000														96			7		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830293	72830293	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72830293G>A	uc002fck.3	-	8	6961	c.6288C>T	c.(6286-6288)atC>atT	p.I2096I	ZFHX3_uc002fcl.3_Silent_p.I1182I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2096					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCGGCGAGAAGATGGGCAGCT	0.662000														106			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679686	100679686	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100679686C>T	uc003uxp.1	+	2	5042	c.4989C>T	c.(4987-4989)atC>atT	p.I1663I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1663	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)					GTCCTGTGATCACTTCTACTG	0.473000														483			38		0	0	1	0	0
RPL24	6152	broad.mit.edu	37	3	101399994	101399994	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:101399994A>T	uc003dvh.1	-	5	502	c.459T>A	c.(457-459)gtT>gtA	p.V153V		NM_000986	NP_000977	P83731	RL24_HUMAN	Homo sapiens ribosomal protein L24 (RPL24), mRNA.	153					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome	p.R152R(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						GTTTTCCACCAACTCGGGGAG	0.368000														164			11		0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123699272	123699272	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:123699272C>T	uc003eha.3	-	2	398	c.57G>A	c.(55-57)aaG>aaA	p.K19K	ROPN1_uc003ehb.2_Non-coding_Transcript|ROPN1_uc003ehc.2_Non-coding_Transcript	NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	Homo sapiens rhophilin associated tail protein 1 (ROPN1), mRNA.	19	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TGGCAAACTCCTTCAGCATCT	0.552000														118			19		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899249	36899249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36899249C>T	uc003cgj.3	-	11	2080	c.1832G>A	c.(1831-1833)aGg>aAg	p.R611K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	611					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCCGGCTCCTCCTCCTGTT	0.542000														117			8		0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16774457	16774457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16774457G>A	uc001ayq.3	+	2	376	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NECAP2_uc001ayo.3_Missense_Mutation_p.E96K|NECAP2_uc010ocd.2_Missense_Mutation_p.E70K	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN	Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.	96					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		p.E96K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCGCATCGAAGATGGAAA	0.552000														69			12		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69969857	69969857	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:69969857C>T	uc002exu.1	+	18	2033	c.1944C>T	c.(1942-1944)gaC>gaT	p.D648D	WWP2_uc002exv.1_Silent_p.D648D|WWP2_uc010vlm.1_Silent_p.D532D|WWP2_uc010vln.1_Silent_p.D266D|WWP2_uc002exw.1_Silent_p.D209D	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	648	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTCCATTGACCCTGAGTTCT	0.547000														141			11		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759998	110759998	+	Silent	SNP	G	A	A	rs138030296	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:110759998G>A	uc003puf.3	-	4	1303	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SLC22A16_uc003pue.3_Silent_p.V393V	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	412					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)		TTCTCCTCCCGACCTTGTCCA	0.507000														75			10		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48617232	48617232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:48617232C>T	uc003ctz.2	-	56	5141	c.5140G>A	c.(5140-5142)Gga>Aga	p.G1714R	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1714	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCTGGCTCCAGGTCCTGTG	0.582000														113			19		0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538399	27538399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27538399C>T	uc001its.2	-	0	2837	c.994G>A	c.(994-996)Gat>Aat	p.D332N						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		AGCCCCAAATCCAAAGGTTGA	0.507000														279			32		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646767	122646767	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:122646767G>A	uc003efz.1	-	7	1024	c.720C>T	c.(718-720)gtC>gtT	p.V240V	SEMA5B_uc011bju.1_Silent_p.V182V|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.V240V|SEMA5B_uc010hro.1_Silent_p.V182V|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	240	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGAGGAGATGACAGCTGTGG	0.627000														96			6		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139334	142139334	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142139334C>T	uc003vyt.3	-	1	336	c.291G>A	c.(289-291)acG>acA	p.T97T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCGCTGGATCGTCAGAGTGG	0.542000														161			34		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1562737	1562737	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1562737G>A	uc002fte.3	-	31	5166	c.5052C>T	c.(5050-5052)ttC>ttT	p.F1684F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1684	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTAGTCCAGGAACTTGGCCC	0.547000														246			25		0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025282	5025282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:5025282C>T	uc003bqf.3	+	4	1451	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	BHLHE40_uc011asw.2_Missense_Mutation_p.P242S	NM_003670	NP_003661	O14503	BHE40_HUMAN	Homo sapiens basic helix-loop-helix family, member e40 (BHLHE40), mRNA.	382						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L381L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCAGAGACTCCCTTCTCCCTT	0.547000														160			13		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3447899	3447899	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3447899C>T	uc002fvr.2	-	3	607	c.285G>A	c.(283-285)gaG>gaA	p.E95E	TRPV3_uc010vrh.1_Silent_p.E79E|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.E95E|TRPV3_uc010vrj.1_Silent_p.E79E|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Silent_p.E79E|TRPV3_uc002fvu.3_Silent_p.E95E	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	95						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGGATGGGGTCTCTGTCACAT	0.602000														37			9		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114383675	114383675	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:114383675G>A	uc009zwi.2	-	12	1728	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	RBM19_uc001tvn.4_Silent_p.I528I|RBM19_uc001tvm.3_Silent_p.I528I	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	528					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding	p.A527V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACTTCTGTGCGATGGCATCGG	0.552000														50			4		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29637977	29637977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:29637977C>T	uc001bru.3	+	20	3026	c.2897C>T	c.(2896-2898)cCt>cTt	p.P966L	PTPRU_uc009vtq.3_Missense_Mutation_p.P962L|PTPRU_uc009vtr.3_Missense_Mutation_p.P956L|PTPRU_uc001brw.3_Missense_Mutation_p.P956L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	966	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGCCGAAGCCTGAGATGGTC	0.617000														117			9		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199308	42199308	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:42199308T>C	uc002xkv.3	+	5	811	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	SGK2_uc002xkr.3_Missense_Mutation_p.F138L|SGK2_uc010ggm.3_Missense_Mutation_p.F138L|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.F138L	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	198	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGGGCCAGGTTCTACGCTGC	0.627000														113			8		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61306984	61306984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61306984C>T	uc002ljf.3	-	5	582	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	SERPINB3_uc002lje.3_Missense_Mutation_p.G166R|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	166					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCAATAGTCCCATCAGGAAAT	0.348000														50			5		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419547	80419547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:80419547C>T	uc003kha.2	+	15	2607	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	853					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTGCAGATCCCCCTCAACTCC	0.527000														65			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158624467	158624467	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158624467G>A	uc001fst.1	-	20	3169	c.2970C>T	c.(2968-2970)gcC>gcT	p.A990A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	990	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGGGCTGCGGGCCTGGAAGT	0.468000														58			4		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231187	7231187	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:7231187G>A	uc010wzk.2	+	0	51	c.51G>A	c.(49-51)agG>agA	p.R17R		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	17										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCCCCAAGAGGATGCTGTTCA	0.632000														63			7		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479455	156479455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156479455G>A	uc010jij.1	-	3	775	c.590C>T	c.(589-591)cCa>cTa	p.P197L	HAVCR1_uc011ddl.1_Missense_Mutation_p.P28L|HAVCR1_uc003lwi.2_Missense_Mutation_p.P197L|HAVCR1_uc021ygj.1_Missense_Mutation_p.P197L|HAVCR1_uc021ygk.1_Missense_Mutation_p.P28L|HAVCR1_uc011ddm.2_Missense_Mutation_p.P197L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	192	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTGTTGTTGGAATGCTCGT	0.453000														354			16		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104060088	104060088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:104060088C>T	uc001tjw.3	+	18	2228	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	681					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.S681F(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGAGCTGTTCTCTGGTGTAC	0.562000														113			6		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33503559	33503559	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:33503559C>T	uc002nuf.3	-	4	528	c.462G>A	c.(460-462)ctG>ctA	p.L154L	RHPN2_uc010xro.2_Silent_p.L3L|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	154	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTACTTGTCTCAGATCCATAA	0.408000														83			5		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300777	103300777	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103300777C>T	uc002tca.3	+	4	1549	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	469						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGTCATATTCTTTACTGTCT	0.403000														159			15		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679189	100679189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100679189C>T	uc003uxp.1	+	2	4545	c.4492C>T	c.(4492-4494)Cct>Tct	p.P1498S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1498	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1497I(1)		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)					ATCTCCTACACCTGCTGAAGG	0.493000														336			15		0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24180929	24180929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24180929G>A	uc001bie.3	-	4	973	c.890C>T	c.(889-891)aCc>aTc	p.T297I	FUCA1_uc009vqt.2_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	297					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GTCAATGCTGGTGCACATCTC	0.448000														217			36		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401429	140401429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:140401429C>T	uc003eto.2	+	1	673	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	156						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCCTGCACTCATTCATGCTG	0.577000														130			10		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472088	71472088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71472088C>T	uc003hfl.3	+	12	1086	c.985C>T	c.(985-987)Ccg>Tcg	p.P329S		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	329					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.P329L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CTCCCCTATGCCGGAGGCCAA	0.567000														16			3		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122765624	122765624	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:122765624A>G	uc003vkm.3	-	11	1265	c.1240_splice	c.e11+1	p.V414_splice	SLC13A1_uc010lks.3_Splice_Site_p.V290_splice	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	414						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATACTCAACCAATTTCTCCTG	0.358000														67			17		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897070	11897070	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11897070C>T	uc001ate.4	+	18	2108	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	CLCN6_uc010oat.2_Silent_p.L381L|CLCN6_uc010oau.2_Silent_p.L643L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	665					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity	p.L665I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCATCCTCACCCGGGCTG	0.582000														92			11		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6953791	6953791	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6953791C>T	uc001mey.3	+	2	876	c.288C>T	c.(286-288)ttC>ttT	p.F96F	ZNF215_uc010raw.2_Silent_p.F96F|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Silent_p.F96F	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	96	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TGGAACAATTCCTGGCAATCC	0.438000														67			5		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189852823	189852823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:189852823C>T	uc002uqj.1	+	5	662	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	182	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P182L(2)		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)	CCAGGCCCTCCCGGTCCCCCT	0.398000														57			7		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43222808	43222808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43222808C>T	uc003ouq.1	+	6	877	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	200	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGGGTTTCGAGGAACGGT	0.607000														115			11		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059717	103059717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103059717C>T	uc002tbx.3	+	7	1338	c.854C>T	c.(853-855)cCt>cTt	p.P285L	IL18RAP_uc010fiz.3_Missense_Mutation_p.P143L	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	285	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.N284S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTCTTTAACCCTGTCATAAAA	0.418000														55			3		0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46196496	46196496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:46196496C>T	uc002inf.1	+	6	841	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	SNX11_uc010wlg.1_Nonsense_Mutation_p.Q155*|SNX11_uc002ing.1_Nonsense_Mutation_p.Q163*|SNX11_uc010wlh.1_Nonsense_Mutation_p.Q155*|SNX11_uc010wli.1_Nonsense_Mutation_p.Q102*|SNX11_uc010wlj.1_Nonsense_Mutation_p.Q19*|SNX11_uc002inh.1_Nonsense_Mutation_p.Q163*	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	163					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TGGCTGGGCCCAGGAAGAGAG	0.522000														109			8		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712438	32712438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32712438G>A	uc003jhv.3	+	0	1001	c.556G>A	c.(556-558)Gag>Aag	p.E186K	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Missense_Mutation_p.E186K	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	186					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CAAGATGGGCGAGATGATGCT	0.667000														47			5		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805279	54805279	+	Missense_Mutation	SNP	C	T	T	rs115872183	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:54805279C>T	uc003pck.3	+	4	1626	c.1510C>T	c.(1510-1512)Cat>Tat	p.H504Y		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	504										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAATGATCATTCAGAAGC	0.408000														73			5		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029326	37029326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37029326G>A	uc004ddl.2	+	0	2895	c.2843G>A	c.(2842-2844)gGg>gAg	p.G948E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	948								p.G948W(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTAAGTTGGGGAAAAAGCTA	0.458000														73			19		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25701206	25701206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:25701206G>A	uc001isj.3	+	3	1199	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	380						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATATTTCAGGAAGTACAAAA	0.468000														123			13		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41160570	41160570	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:41160570G>A	uc010jxm.1	-	3	1034	c.855C>T	c.(853-855)gtC>gtT	p.V285V		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	285			V -> I (in dbSNP:rs35521209).		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)					AAAACCCATAGACCATGATCA	0.557000														80			6		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044645	119044645	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:119044645G>A	uc001lde.1	-	4	1798	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	533					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TAGCTCCAAGGGGTTTAATAG	0.413000														144			15		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31283422	31283422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:31283422G>A	uc003aiy.1	+	3	1221	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	OSBP2_uc011ala.1_Missense_Mutation_p.D208N|OSBP2_uc010gwc.1_Missense_Mutation_p.D200N|OSBP2_uc011alb.1_Missense_Mutation_p.D373N|OSBP2_uc003aiz.1_Missense_Mutation_p.D373N|OSBP2_uc003aja.1_Missense_Mutation_p.D7N|OSBP2_uc011alc.2_Missense_Mutation_p.D115N|OSBP2_uc011ald.1_5'UTR|OSBP2_uc010gwd.1_5'UTR	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	373					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGCCTGCAGGGACTTCTTGGA	0.582000														148			15		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49236546	49236546	+	Silent	SNP	G	A	A	rs112022991	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:49236546G>A	uc010zyt.2	-	2	497	c.246C>T	c.(244-246)ttC>ttT	p.F82F	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.F78F|FAM65C_uc002xvn.1_Silent_p.F78F	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	78										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAATGCTTCGAAGATCTTCT	0.552000														89			12		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374955	135374955	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:135374955C>T	uc004cbn.3	+	3	648	c.600C>T	c.(598-600)ctC>ctT	p.L200L	C9orf171_uc004cbo.3_Silent_p.L164L	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	200										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CGCCCCCTCTCCCTCCAAACA	0.597000														91			29		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183652216	183652216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:183652216C>T	uc003ivd.1	+	14	2966	c.2891C>T	c.(2890-2892)cCc>cTc	p.P964L	ODZ3_uc003ive.1_Missense_Mutation_p.P370L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	964					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)		AGGCCAAATCCCATCATTGTG	0.418000														33			6		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821663	45821663	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:45821663C>T	uc010gpt.1	+	15	2521	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	TRPM2_uc002zet.1_Silent_p.F807F|TRPM2_uc002zeu.1_Silent_p.F807F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F807F|TRPM2_uc002zex.1_Silent_p.F593F|TRPM2_uc002zey.1_Silent_p.F320F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	807						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.F807F(2)		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						TCTCCTACTTCGCCTTCCTCT	0.632000														466			44		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769183	247769183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247769183C>T	uc010pyz.2	+	0	296	c.296C>T	c.(295-297)gCg>gTg	p.A99V		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99G(2)|p.A99A(1)		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)			GGTTGTGTGGCGCAACTCTAT	0.483000														195			22		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68961601	68961601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:68961601C>T	uc002ewi.4	+	12	2270	c.2258C>T	c.(2257-2259)gCc>gTc	p.A753V		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	753						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		ACCCATGGAGCCTTTGCCACT	0.493000														187			17		0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158371243	158371243	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:158371243C>A	uc003fce.3	+	6	1092	c.985C>A	c.(985-987)Ctc>Atc	p.L329I	GFM1_uc003fcd.3_Missense_Mutation_p.L329I|GFM1_uc003fcg.3_Missense_Mutation_p.L260I	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	329					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTATGCTATTCTCAATAAAGA	0.343000														42			6		2.0095e-06	2.02596e-06	1	1	0
ZNF485	220992	broad.mit.edu	37	10	44112510	44112510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:44112510C>T	uc010qfc.2	+	4	1213	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ZNF485_uc010qfd.2_Missense_Mutation_p.S249F	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TATAGCTCATCCTTTGCTGGT	0.428000														127			12		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356242	10356242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10356242C>T	uc002gmn.3	-	24	3230	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1040					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCCAGAGATCCTTCAAGCTA	0.353000														75			7		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525476	176525476	+	Silent	SNP	C	T	T	rs148899801		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176525476C>T	uc001gkz.3	+	1	1182	c.18C>T	c.(16-18)atC>atT	p.I6I	PAPPA2_uc001gky.1_Silent_p.I6I|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	6					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.I6I(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTAAAGATCCTAAGAATAA	0.517000														119			11		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139151	126139151	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:126139151C>T	uc001uhe.1	+	8	3140	c.3132C>T	c.(3130-3132)atC>atT	p.I1044I	TMEM132B_uc001uhf.1_Silent_p.I556I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1044						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCAACTCCATCCTGTTTGACA	0.498000														92			8		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306472	3306472	+	Missense_Mutation	SNP	C	G	G	rs141288548		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3306472C>G	uc002cun.1	-	0	156	c.116G>C	c.(115-117)aGg>aCg	p.R39T	MEFV_uc021tbw.1_Missense_Mutation_p.R39T|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	39	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCGGGGGATCCTGGAGTGCTC	0.587000														132			8		0	0	1	0	0
HAND1	9421	broad.mit.edu	37	5	153857387	153857387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153857387G>A	uc003lvn.3	-	0	438	c.182C>T	c.(181-183)cCg>cTg	p.P61L		NM_004821	NP_004812	O96004	HAND1_HUMAN	Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA.	61					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	DNA binding|bHLH transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			cgcgggcggcggcccgcccgc	0.751000														12			3		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281455	125281455	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125281455C>T	uc011lyw.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGTCTGAGTTCCTCCTCCTGG	0.512000														146			27		0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139236477	139236477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:139236477C>T	uc003eti.2	-	3	697	c.586G>A	c.(586-588)Gtg>Atg	p.V196M		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	134						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CCTCACTGCACCTTCTTGAAT	0.522000														181			22		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794318	15794318	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15794318T>A	uc002nbl.3	+	6	782	c.663T>A	c.(661-663)taT>taA	p.Y221*		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.E220*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCAGTGAATATATTGCCACCA	0.542000														101			8		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24772027	24772027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:24772027G>A	uc003xed.4	+	0	754	c.721G>A	c.(721-723)Gag>Aag	p.E241K	NEFM_uc011lac.1_Missense_Mutation_p.E241K|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_Missense_Mutation_p.S14F	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	241	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCACGAGGAGGAGGTGGCCGA	0.602000														52			5		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051673	22051673	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:22051673T>A	uc003xbg.3	+	9	1549	c.1283T>A	c.(1282-1284)tTt>tAt	p.F428Y	BMP1_uc003xbf.3_Missense_Mutation_p.F177Y|BMP1_uc003xbb.3_Missense_Mutation_p.F428Y|BMP1_uc003xbc.3_Missense_Mutation_p.F177Y|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.F177Y|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	428	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AAGGGCTTCTTTGCAGTCTAC	0.587000														86			4		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38797432	38797432	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38797432C>T	uc003ciq.3	-	9	1308	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	436					sensory perception	voltage-gated sodium channel complex		p.G436W(1)		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)	TTGTGTCAATCCCTAGTGCTG	0.498000														76			5		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616848	1616848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:1616848G>A	uc002wfm.1	-	2	799	c.734C>T	c.(733-735)tCt>tTt	p.S245F	SIRPG_uc002wfn.1_Missense_Mutation_p.S245F|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	245	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GATGGCCTCAGACAAGTTGGC	0.627000														66			7		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952707	50952707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50952707G>A	uc009xog.3	-	11	1836	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	OGDHL_uc001jie.3_Missense_Mutation_p.S574F|OGDHL_uc010qgt.2_Missense_Mutation_p.S517F|OGDHL_uc010qgu.2_Missense_Mutation_p.S365F|OGDHL_uc009xoh.2_Missense_Mutation_p.S365F	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	574					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGCCAGGGGGAGTCCAACCA	0.547000														99			10		0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142509896	142509896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142509896G>A	uc003evc.3	+	7	1469	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	TRPC1_uc003evb.3_Missense_Mutation_p.E411K|TRPC1_uc011bni.1_Missense_Mutation_p.E12K	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	445					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACTCTGGTATGAAGGGTTGGA	0.328000														31			4		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41626275C>T	uc002opu.1	+	3	414	c.358C>T	c.(358-360)Cga>Tga	p.R120*	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Nonsense_Mutation_p.R120*|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	120					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R120*(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562000														113			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584459	82584459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82584459C>T	uc003uhx.2	-	4	6099	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1937Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1868					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						CACTTCATCTCGTTCATTTGC	0.363000														24			8		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768962	57768962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57768962G>A	uc002yan.3	+	0	2888	c.2888G>A	c.(2887-2889)aGc>aAc	p.S963N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	963						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)					CCAAGGCACAGCCAGGACTCT	0.607000														207			18		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997280	115997280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:115997280G>A	uc003ibu.3	-	1	1592	c.913C>T	c.(913-915)Ctt>Ttt	p.L305F	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	305	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L305F(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGTCCACAAGGATGTACCTG	0.403000														88			8		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753954	3753954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:3753954G>A	uc001aky.2	-	8	1380	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.L341F	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	341						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTTTCCTGAAGGAAAGGTTCT	0.478000														44			7		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43649366	43649366	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43649366G>A	uc021omk.1	+	3	725	c.579G>A	c.(577-579)caG>caA	p.Q193Q	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Silent_p.Q182Q|WDR65_uc001ciq.2_Silent_p.Q193Q|WDR65_uc001cip.2_Silent_p.Q193Q	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	193										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGCTTTCAGAGGGGAGAAC	0.493000														90			9		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032120	197032120	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197032120G>A	uc001gtt.1	-	1	176	c.132C>T	c.(130-132)agC>agT	p.S44S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	44	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GAAAGTAAAAGCTTTTAAAAG	0.358000														88			13		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196874238	196874238	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:196874238G>A	uc001gtp.3	+	3	394	c.257_splice	c.e3-1	p.R86_splice	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Splice_Site_p.R85_splice|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	446	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCTATTTTAGGAACATGCTCA	0.264000														12			3		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429843	135429843	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:135429843A>G	uc004ezu.1	+	5	4269	c.3978A>G	c.(3976-3978)ggA>ggG	p.G1326G	GPR112_uc010nsb.1_Silent_p.G1121G|GPR112_uc010nsc.1_Silent_p.G1093G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1326					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1326R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGATGGAAATTTGGCTT	0.443000														40			3		0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39018824	39018824	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39018824G>A	uc002hvk.2	-	6	1404	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	460	Tail.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TACCTTTAGAGGAATCAGTTG	0.358000														159			14		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413173	2413173	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2413173C>T	uc002wfy.1	+	12	2066	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	TGM6_uc010gal.1_Missense_Mutation_p.P624L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	669					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGCCTCAGTCCAGTTTGACAT	0.587000														92			7		0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647862	125647862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:125647862G>A	uc001qcu.3	-	2	158	c.112C>T	c.(112-114)Cat>Tat	p.H38Y	PATE2_uc010sbj.2_Intron	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	38						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AACCCAAGATGATATTTTTTA	0.418000														44			7		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174734	51174734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174734G>A	uc021tif.1	-	1	1430	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	SALL1_uc021tid.1_Missense_Mutation_p.H370Y|SALL1_uc021tie.1_Missense_Mutation_p.H467Y|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	467					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)			GAACGCAAGTGGATCTGCAAG	0.517000														128			19		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236934	23236934	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23236934C>T	uc009vqj.1	+	13	2707	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	EPHB2_uc001bge.3_Silent_p.A855A|EPHB2_uc001bgf.3_Silent_p.A854A|EPHB2_uc010odu.2_Silent_p.A796A	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	854	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.A854T(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCGAGCGCCCTGCACCAAC	0.587000														175			17		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594960	41594960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41594960G>A	uc002opt.3	+	1	316	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	103					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.E103*(2)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CGGGCGAGGCGAGCAGGCCAC	0.652000														51			8		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107746315	107746315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107746315C>T	uc010ljo.1	-	7	901	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	LAMB4_uc003vey.2_Missense_Mutation_p.E273K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	273	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGCGACATTCGCTAGCATGG	0.468000														140			9		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35857113	35857113	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35857113T>A	uc003jjs.3	+	0	123	c.34T>A	c.(34-36)Ttt>Att	p.F12I	IL7R_uc011coo.2_Missense_Mutation_p.F12I|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	12					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGGCATGGTTTTTTCTTTACT	0.373000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							93			12		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111746259	111746259	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:111746259T>C	uc001tsa.2	+	13	1341	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	396						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GACTCACTGCTTATTGCAAAG	0.617000														30			6		0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780107	137780107	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:137780107C>T	uc003lda.3	+	3	308	c.186C>T	c.(184-186)ttC>ttT	p.F62F	REEP2_uc003lcz.3_Silent_p.F62F|REEP2_uc011cyt.2_Silent_p.F23F	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	62						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAACAGGTTCCCCTTCTACT	0.612000														122			7		0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:79650840C>T	uc002kbf.3	-	0	115	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	6							GTP binding	p.G6R(2)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000														19			3		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038272	34038272	+	Missense_Mutation	SNP	C	T	T	rs142478967		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:34038272C>T	uc002yqh.2	-	16	2243	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	SYNJ1_uc011ads.1_Missense_Mutation_p.R704Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.R709Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.R704Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.R748Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	709	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACTCAATTTTCGTGCTATTTC	0.363000														41			3		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068217	189068217	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:189068217G>A	uc003izm.1	+	5	1213	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	TRIML1_uc003izn.1_Silent_p.G90G	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	366	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAGAAAGGGGAATCTCCCCA	0.527000														79			6		0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37842191	37842191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37842191G>A	uc002hsj.3	-	1	306	c.263C>T	c.(262-264)cCt>cTt	p.P88L	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010cvy.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.P88L|PGAP3_uc002hsk.3_Missense_Mutation_p.P88L|PGAP3_uc010cvz.3_Missense_Mutation_p.P88L|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	88					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						ATGGAACTGAGGCACTTTGTG	0.532000														98			7		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245421	46245421	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46245421C>T	uc003cph.1	-	1	455	c.384G>A	c.(382-384)acG>acA	p.T128T	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.T128T	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	128					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	p.T128M(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACCTGTCAATCGTCAGCAGGA	0.512000														40			7		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38530721	38530721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38530721C>T	uc010ive.1	-	1	361	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	LIFR_uc003jli.2_Missense_Mutation_p.R10Q	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	10					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCAGGATGGTCGTTTCAAACA	0.388000			T	PLAG1	salivary adenoma									98			9		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325217	57325217	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57325217G>A	uc002qnu.2	-	6	4944	c.4593C>T	c.(4591-4593)atC>atT	p.I1531I	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_Silent_p.I1502I|PEG3_uc002qnv.2_Silent_p.I1531I|PEG3_uc002qnw.2_Silent_p.I1407I|PEG3_uc002qnx.2_Silent_p.I1405I|PEG3_uc010etr.2_Silent_p.I1531I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1531					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)		GCTCAAATATGATCATGCTGG	0.478000														81			6		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337863	37337863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:37337863C>T	uc001caz.2	-	3	793	c.658G>A	c.(658-660)Gag>Aag	p.E220K	GRIK3_uc001cba.1_Missense_Mutation_p.E220K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	220					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGCTTCATCTCCTTGAGCAAG	0.597000														81			11		0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301234	110301234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:110301234C>T	uc011eav.2	+	2	1208	c.964C>T	c.(964-966)Ccg>Tcg	p.P322S	GPR6_uc011eaw.2_Missense_Mutation_p.P307S|GPR6_uc003ptu.3_Missense_Mutation_p.P307S|GPR6_uc021zds.1_Missense_Mutation_p.P307S	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	307						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCATGAGGACCCGGCGGTCTA	0.617000														80			10		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441223	99441223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:99441223G>A	uc003yin.3	+	1	1366	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	KCNS2_uc022azb.1_Missense_Mutation_p.G339E	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	339						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTCTCCGTGGGGATTTCCATC	0.577000														64			8		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8507350	8507350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:8507350G>A	uc003zkk.3	-	21	2371	c.1628C>T	c.(1627-1629)aCc>aTc	p.T543I	PTPRD_uc003zkp.3_Missense_Mutation_p.T543I|PTPRD_uc003zkq.3_Missense_Mutation_p.T543I|PTPRD_uc003zkr.3_Missense_Mutation_p.T537I|PTPRD_uc003zks.3_Missense_Mutation_p.T533I|PTPRD_uc022bdj.1_Missense_Mutation_p.T540I	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	543	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T543T(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)		GTTGGCAATGGTATCTGAACG	0.468000										TSP Lung(15;0.13)				147			7		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133560	177133560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:177133560C>T	uc001glc.3	-	0	465	c.253G>A	c.(253-255)Gag>Aag	p.E85K	ASTN1_uc001glb.1_Missense_Mutation_p.E85K|ASTN1_uc001gld.1_Missense_Mutation_p.E85K|ASTN1_uc009wwx.1_Missense_Mutation_p.E85K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	85					cell migration|neuron cell-cell adhesion	integral to membrane		p.E85D(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCGTGTTCTCCAGGTCGTCC	0.692000														15			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488720	128488720	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128488720C>T	uc003vnz.4	+	26	4895	c.4686C>T	c.(4684-4686)ttC>ttT	p.F1562F	FLNC_uc003voa.4_Silent_p.F1562F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1562					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTGGAGTTCACCATCGACG	0.647000														152			10		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88472945	88472945	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:88472945A>T	uc001tar.3	-	38	5632	c.5288T>A	c.(5287-5289)aTt>aAt	p.I1763N	CEP290_uc001taq.3_Missense_Mutation_p.I823N	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1763					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGCAGAAATAATACGTTCTTC	0.373000														22			5		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7768995	7768995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:7768995G>A	uc001ijs.3	+	9	1229	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	356	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGAACATTCGAACTTGGAGA	0.403000														91			9		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129460	149129460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149129460G>A	uc003wfv.3	-	5	2066	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACTTGTAGGGCTTAGGGCCA	0.662000														327			23		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44892239	44892239	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:44892239C>T	uc010xxa.2	-	3	232	c.189G>A	c.(187-189)ttG>ttA	p.L63L	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.L56L	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CCTGAAGATTCAAAATGTTGT	0.393000														77			5		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317854	77317854	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:77317854C>T	uc002ffc.4	-	22	4084	c.3665G>A	c.(3664-3666)tGa>tAa	p.*1222*		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	0					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACACCAAGATCAGATCTTCCT	0.507000														47			4		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152365	71152365	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:71152365G>A	uc001oqk.3	-	5	784	c.534C>T	c.(532-534)atC>atT	p.I178I	DHCR7_uc001oql.3_Silent_p.I178I	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	178					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)	ACAGCAGTGGGATCCAGTTGT	0.577000									Smith-Lemli-Opitz syndrome					97			14		0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97402889	97402889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97402889G>A	uc001kkz.3	-	2	405	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	ALDH18A1_uc001kky.3_Missense_Mutation_p.R55C|ALDH18A1_uc010qog.2_Intron|ALDH18A1_uc010qoh.2_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	55	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CCATGTGTACGACTGAGGGGT	0.522000														155			11		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670258	99670258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:99670258G>A	uc002bup.3	+	4	1810	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	SYNM_uc002buo.3_Missense_Mutation_p.D564N|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	565	Tail.			K -> N (in Ref. 1; CAC83858/CAC83859).	intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TAAGGAGAAGGACTCACCGAA	0.498000														35			4		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845298	53845298	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:53845298G>A	uc003dgv.4	+	47	6514	c.6351G>A	c.(6349-6351)ggG>ggA	p.G2117G	CACNA1D_uc003dgu.4_Silent_p.G2137G|CACNA1D_uc003dgy.4_Silent_p.G2093G|CACNA1D_uc003dgw.4_Silent_p.G1784G|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2117					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGCCAACGGGGATGTGGGCC	0.602000														80			5		0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24329174	24329174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:24329174G>A	uc003sww.2	+	2	333	c.245G>A	c.(244-246)aGc>aAc	p.S82N		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	82					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATGAGAGAAAGCACAGAAAAT	0.458000														90			10		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42656116	42656116	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42656116C>T	uc011dur.2	+	44	5314	c.5016C>T	c.(5014-5016)atC>atT	p.I1672I	UBR2_uc011dus.2_Silent_p.I1317I|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Silent_p.I260I|UBR2_uc011duu.2_Silent_p.I64I	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1672					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGTGGGCATCTTCCTGAGGT	0.517000														144			18		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12231071	12231071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:12231071C>T	uc001mjz.3	+	5	905	c.617C>T	c.(616-618)cCt>cTt	p.P206L	MICAL2_uc010rch.1_Missense_Mutation_p.P206L|MICAL2_uc001mka.3_Missense_Mutation_p.P206L|MICAL2_uc010rci.2_Missense_Mutation_p.P206L|MICAL2_uc001mkb.3_Missense_Mutation_p.P206L|MICAL2_uc001mkc.3_Missense_Mutation_p.P206L|MICAL2_uc001mkd.3_Missense_Mutation_p.P35L	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	206						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)		GAATTTCTCCCTACAGACCAT	0.517000														173			15		0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67696356	67696356	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67696356A>C	uc002ett.3	+	2	938	c.847A>C	c.(847-849)Agt>Cgt	p.S283R	ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.3_Missense_Mutation_p.S282R	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog alpha (C. elegans) (PARD6A), transcript variant 1, mRNA.	283					cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGATGACAGCAGTGACCTGGT	0.632000														54			4		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823155	97823155	+	Silent	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:97823155C>A	uc003upd.2	+	10	3671	c.3378C>A	c.(3376-3378)tcC>tcA	p.S1126S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1126					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S1126F(1)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCTCCCCATCCGCCTTGGTGT	0.607000														86			4		0.217242	0.217463	1	1	0
FANCM	57697	broad.mit.edu	37	14	45618069	45618069	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:45618069A>G	uc001wwd.4	+	3	888	c.789A>G	c.(787-789)ctA>ctG	p.L263L	FANCM_uc001wwc.2_Silent_p.L263L|FANCM_uc010anf.3_Silent_p.L237L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	263	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTAACCTGCTAATTGGGCAGA	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					57			5		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105139435	105139435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:105139435C>T	uc004emd.3	+	6	802	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	167	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGGCTTAGCTCACCTTCACGC	0.353000										HNSCC(51;0.14)				26			3		0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21490309	21490309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21490309C>T	uc001vyy.3	-	5	406	c.256G>A	c.(256-258)Gag>Aag	p.E86K	NDRG2_uc010tll.2_Missense_Mutation_p.E82K|NDRG2_uc001vyt.3_5'UTR|NDRG2_uc001vyu.3_Missense_Mutation_p.E72K|NDRG2_uc001vyv.3_Missense_Mutation_p.E72K|NDRG2_uc001vyw.3_Missense_Mutation_p.E72K|NDRG2_uc001vzb.3_Missense_Mutation_p.E26K|NDRG2_uc001vyx.3_Missense_Mutation_p.E86K|NDRG2_uc001vza.3_Missense_Mutation_p.E72K|NDRG2_uc001vyz.3_Missense_Mutation_p.E72K|NDRG2_uc001vzc.3_Missense_Mutation_p.E72K|NDRG2_uc010aig.3_Missense_Mutation_p.E86K|NDRG2_uc001vze.3_Missense_Mutation_p.E86K|NDRG2_uc001vzd.3_Missense_Mutation_p.E86K|NDRG2_uc001vzg.3_Missense_Mutation_p.E72K|NDRG2_uc001vzf.3_Missense_Mutation_p.E72K	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	86					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCATGTCCTCGAACTGAAAC	0.493000														85			9		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690040	33690040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33690040C>T	uc002hjg.4	-	1	1034	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SLFN11_uc010ctr.3_Missense_Mutation_p.E263K|SLFN11_uc010ctp.3_Missense_Mutation_p.E263K|SLFN11_uc010ctq.3_Missense_Mutation_p.E263K|SLFN11_uc002hjh.4_Missense_Mutation_p.E263K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	263						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAACATTTTCTTTTGCACAT	0.428000														134			15		0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75245188	75245188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:75245188C>T	uc003hie.1	+	1	257	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	EREG_uc003hid.3_Missense_Mutation_p.L25F	NM_001432	NP_001423	O14944	EREG_HUMAN	Homo sapiens epiregulin (EREG), mRNA.	31					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			ACAGGCAGTCCTCAGTACAAC	0.373000														180			14		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115858481	115858481	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:115858481C>G	uc003ibu.3	-	4	2079	c.1400G>C	c.(1399-1401)aGc>aCc	p.S467T	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	467	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CACCATGATGCTATTGTGAAT	0.438000														93			4		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036463	32036463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32036463G>A	uc003nzl.2	-	16	6126	c.5924C>T	c.(5923-5925)tCa>tTa	p.S1975L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2057	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGAGGTTCTGAAGGCTTCTC	0.642000														88			4		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616643	91616643	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:91616643G>A	uc022bjm.1	+	0	528	c.528G>A	c.(526-528)tgG>tgA	p.W176*	S1PR3_uc004aqe.3_Nonsense_Mutation_p.W176*	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	176					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TTCTGGGCTGGAACTGCCTGC	0.582000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			9		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990452	990452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:990452G>A	uc003zgw.1	+	1	904	c.866G>A	c.(865-867)cGa>cAa	p.R289Q		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	289					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)		CTGTCCAGCCGATCCTCAGTC	0.572000														72			11		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964876	196964876	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:196964876C>T	uc001gts.4	+	4	765	c.637C>T	c.(637-639)Caa>Taa	p.Q213*		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	213	Sushi 4.				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						TCCACCTCCTCAACTCTCCAA	0.333000														49			8		0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112407699	112407699	+	Silent	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:112407699T>G	uc003vgn.3	-	4	2039	c.1647A>C	c.(1645-1647)tcA>tcC	p.S549S	TMEM168_uc010lju.3_Silent_p.S549S|TMEM168_uc011kmr.2_Silent_p.S165S	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	549						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCCAAGGGGTTGAATTTTCGC	0.413000														80			9		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38912193	38912193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38912193C>T	uc021wvy.1	-	21	4001	c.3802G>A	c.(3802-3804)Gat>Aat	p.D1268N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1268					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTGTGGAATCAACAGCTGCA	0.403000														78			9		0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1250227	1250227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1250227C>T	uc001aef.1	-	8	1210	c.697G>A	c.(697-699)Gag>Aag	p.E233K	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.E227K|CPSF3L_uc009vjz.1_Missense_Mutation_p.E205K|CPSF3L_uc010nyj.1_Missense_Mutation_p.E198K|CPSF3L_uc001aeg.1_Missense_Mutation_p.E103K|CPSF3L_uc001aeh.1_Missense_Mutation_p.E126K|CPSF3L_uc001aei.1_Missense_Mutation_p.E129K|CPSF3L_uc001aek.1_5'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	227						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCCACGGTCTCGTGGACTTTC	0.642000														78			22		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633685	32633685	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:32633685G>A	uc003zrg.1	-	0	1983	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	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.	631					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)		GGAACTGCCGGATTTTGATGG	0.488000														82			12		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50873432	50873432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50873432C>T	uc003blb.2	+	13	1860	c.1438C>T	c.(1438-1440)Ctc>Ttc	p.L480F	PPP6R2_uc003blc.3_Missense_Mutation_p.L480F|PPP6R2_uc003bky.2_Missense_Mutation_p.L480F|PPP6R2_uc003bla.2_Missense_Mutation_p.L481F|PPP6R2_uc003bkz.2_Missense_Mutation_p.L480F|PPP6R2_uc003bld.2_Missense_Mutation_p.L39F	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	480						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CATGGGCCACCTCACACGGAT	0.672000														46			8		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107419	21107419	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21107419G>A	uc002zsz.4	-	23	2928	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	889					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCATGTTCAGGAAGGCATCGA	0.502000														48			5		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589929	11589929	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11589929G>A	uc001ash.4	+	14	3153	c.3015G>A	c.(3013-3015)gtG>gtA	p.V1005V		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1005					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)		GGCCACTAGTGGATACCGGGG	0.637000														91			12		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136247	92136247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:92136247G>A	uc001xzs.1	-	13	1338	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	400					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P400S(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CGAAAAATTGGAAATTTTGAT	0.408000														90			10		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306799	46306799	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46306799T>C	uc002zgd.2	-	13	2143	c.2099A>G	c.(2098-2100)aAc>aGc	p.N700S	ITGB2_uc002zgf.3_Missense_Mutation_p.N700S|ITGB2_uc011afl.1_Missense_Mutation_p.N622S|ITGB2_uc010gpw.2_Missense_Mutation_p.N643S|ITGB2_uc002zgg.2_Missense_Mutation_p.N700S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	700					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCGGCGATGTTGGGGCCTGC	0.642000														54			6		0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329632	74329633	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:74329632_74329633CC>TT	uc001ovf.1	+	5	518_519	c.443_444CC>TT	c.(442-444)tcc>tTT	p.S148F	POLD3_uc009yua.1_Missense_Mutation_p.S42F	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	148					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	p.S148S(3)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCTGCTGAATCCTCTTCGTCTT	0.455000														167			10		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087876	86087876	+	Silent	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:86087876A>C	uc021rxf.1	+	0	18	c.18A>C	c.(16-18)acA>acC	p.T6T	FLRT2_uc001xvr.3_Silent_p.T6T|FLRT2_uc010atd.3_Silent_p.T6T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	6					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TACAGACCACAAAGTGGCCCA	0.433000														51			12		0	0	1	0	0
FAM18B2	201158	broad.mit.edu	37	17	15458665	15458665	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:15458665T>A	uc002goq.2	-	1	209	c.26A>T	c.(25-27)gAc>gTc	p.D9V	CDRT4_uc021tqm.1_5'UTR|FAM18B2_uc010vvx.2_Missense_Mutation_p.D9V|FAM18B2_uc010vvw.2_5'UTR|FAM18B2_uc010cor.2_Missense_Mutation_p.D9V	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	Homo sapiens family with sequence similarity 18, member B2 (FAM18B2), transcript variant 1, mRNA.	9						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		ATCTTCAGTGTCATCATTACT	0.398000														84			13		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462101	5462101	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5462101A>G	uc010qze.2	-	0	683	c.644T>C	c.(643-645)tTc>tCc	p.F215S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCAGGATGAAAGTTGAGTC	0.458000														11			3		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137710502	137710502	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:137710502G>A	uc004cfe.3	+	55	4613	c.4231_splice	c.e55-1	p.G1411_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1411	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGTCCTGCAGGGAGAAGCCGG	0.697000														19			4		0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996298	4996298	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:4996298G>A	uc003mwl.3	-	6	815	c.780C>T	c.(778-780)ttC>ttT	p.F260F	RPP40_uc003mwm.3_Silent_p.F237F	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	260					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				AGGTTGATATGAAATTATTAG	0.368000														62			7		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806257	26806257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:26806257G>A	uc001zbb.3	-	8	1173	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L	GABRB3_uc021sgg.1_Missense_Mutation_p.P230L|GABRB3_uc021sgh.1_Missense_Mutation_p.P216L|GABRB3_uc001zaz.3_Missense_Mutation_p.P301L|GABRB3_uc001zba.3_Missense_Mutation_p.P301L	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	301					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTGACATAGGGGATTTTGGG	0.463000														73			6		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136196179	136196179	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:136196179G>A	uc003era.1	-	9	1270	c.978C>T	c.(976-978)ttC>ttT	p.F326F	STAG1_uc003erb.1_Silent_p.F326F|STAG1_uc003erc.1_Silent_p.F100F|STAG1_uc010hua.1_Silent_p.F189F	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	326	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGTCATTTAGGAAGGCATCAC	0.358000														77			6		0	0	1	0	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70795947	70795947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:70795947G>A	uc021rvn.1	-	4	530	c.403C>T	c.(403-405)Cct>Tct	p.P135S	SYNJ2BP-COX16_uc001xmb.3_Missense_Mutation_p.P50S|SYNJ2BP-COX16_uc021rvl.1_Missense_Mutation_p.P26S|SYNJ2BP-COX16_uc021rvm.1_Missense_Mutation_p.P126S|SYNJ2BP-COX16_uc021rvo.1_Missense_Mutation_p.P102S	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		TCAAGCTCAGGATCCATCTGT	0.294000														31			6		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85613284	85613284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:85613284C>T	uc004amo.1	-	12	2062	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	601					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACTTGCCTCTCCTGACCAGCT	0.448000														305			22		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178425883	178425883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:178425883C>T	uc001glq.3	+	12	3003	c.2239C>T	c.(2239-2241)Cct>Tct	p.P747S	RASAL2_uc001glr.3_Missense_Mutation_p.P606S|RASAL2_uc009wxc.3_Missense_Mutation_p.P120S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	606					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGGCCTCTCCCTCGTGTTCT	0.448000														262			28		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751273	19751273	+	Missense_Mutation	SNP	C	T	T	rs146654670		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:19751273C>T	uc009zzj.3	-	3	955	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	284					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.E284K(2)		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)		GACAGCTGCTCGTGGTAGGCC	0.607000														279			29		0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154649469	154649469	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:154649469C>T	uc003int.3	-	3	664	c.291G>A	c.(289-291)acG>acA	p.T97T	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	97						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATAATTTTATCGTGAAATATA	0.453000														146			10		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526584	71526584	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:71526584G>A	uc009zrt.1	-	5	627	c.465C>T	c.(463-465)gtC>gtT	p.V155V	TSPAN8_uc001swk.1_Silent_p.V155V|TSPAN8_uc001swj.1_Silent_p.V155V	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	155					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CAGCTCCATTGACCAAACCGC	0.353000														74			6		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276383	63276383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63276383G>A	uc001nxc.2	+	2	702	c.361G>A	c.(361-363)Gag>Aag	p.E121K	LGALS12_uc001nxa.2_Missense_Mutation_p.E120K|LGALS12_uc001nxb.2_Missense_Mutation_p.E120K|LGALS12_uc001nxd.2_Missense_Mutation_p.E59K|LGALS12_uc001nxe.2_Missense_Mutation_p.E59K|LGALS12_uc009yot.2_Missense_Mutation_p.E80K	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	120	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGGCAAAGGGAGGCCCGGTG	0.602000														69			11		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50832478	50832478	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50832478C>T	uc003blb.2	+	3	563	c.141C>T	c.(139-141)ttC>ttT	p.F47F	PPP6R2_uc003blc.3_Silent_p.F47F|PPP6R2_uc003bky.2_Silent_p.F47F|PPP6R2_uc003bla.2_Silent_p.F47F|PPP6R2_uc003bkz.2_Silent_p.F47F	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	47						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGCTGGACTTCCTGTGCAGGC	0.542000														274			26		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149363	34149363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:34149363G>A	uc004ddg.3	-	0	1085	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	345								p.R345H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACCCCCGACGAGTCTTGGAA	0.667000														23			4		0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195499	3195499	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3195499G>A	uc002fvh.1	-	0	378	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGATGGCCAGGAATCGGTCAT	0.597000														110			11		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080091	171080091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171080091G>A	uc001ghi.3	+	5	891	c.780G>A	c.(778-780)atG>atA	p.M260I	FMO3_uc001ghh.3_Missense_Mutation_p.M260I|FMO3_uc010pmb.2_Missense_Mutation_p.M240I|FMO3_uc010pmc.2_Missense_Mutation_p.M197I	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	260					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGCAGATGAATGCAAGAT	0.438000														94			5		0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28294109	28294109	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:28294109T>C	uc003nlc.3	-	3	1444	c.1055A>G	c.(1054-1056)cAg>cGg	p.Q352R	ZNF323_uc003nld.3_Missense_Mutation_p.Q352R|ZNF323_uc010jra.3_Missense_Mutation_p.Q352R|ZNF323_uc003nla.3_Missense_Mutation_p.Q352R|ZNF323_uc003nlb.3_Missense_Mutation_p.Q193R|ZNF323_uc010jrb.3_Missense_Mutation_p.Q193R|ZNF323_uc021yrs.1_Missense_Mutation_p.Q352R|ZNF323_uc021yrt.1_Missense_Mutation_p.Q193R	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	352					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						CTCACGACACTGATAGCGCTT	0.502000														178			17		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958352	40958352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:40958352G>A	uc003jmh.3	+	10	1592	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTCCTCGTAGGGAATCAAGCA	0.488000														49			4		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644954	169644954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169644954C>T	uc003fgd.3	+	5	1171	c.904C>T	c.(904-906)Cga>Tga	p.R302*	SAMD7_uc003fge.3_Nonsense_Mutation_p.R302*|SAMD7_uc011bpo.2_Nonsense_Mutation_p.R203*	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	302										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCCAGTTCCTCGACCATCTCT	0.502000														101			10		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292127	18292127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:18292127G>A	uc001ipo.2	+	11	2060	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E	SLC39A12_uc001ipn.2_Missense_Mutation_p.G559E|SLC39A12_uc001ipp.2_Missense_Mutation_p.G595E|SLC39A12_uc010qck.1_Missense_Mutation_p.G462E|LOC100129213_uc001ipq.1_Non-coding_Transcript	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	596					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTAAGCTCTGGACTTTCTATG	0.398000														121			10		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205561330	205561330	+	Silent	SNP	C	T	T	rs147933600		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:205561330C>T	uc001hcv.4	+	6	1298	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	MFSD4_uc010prk.2_Silent_p.F317F|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F349F|U6_uc021pic.1_5'Flank	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	404					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTTCCTGTTCGTGGGGACGG	0.607000											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			4		0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49318379	49318379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49318379C>T	uc002pkv.1	-	5	655	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	HSD17B14_uc010emk.1_Missense_Mutation_p.R130Q	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	130			R -> W (in dbSNP:rs35299026).		steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TTGACTCTTCCGCAGGTAGGG	0.582000														77			13		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6961660	6961660	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:6961660C>T	uc002knm.3	-	52	7645	c.7551G>A	c.(7549-7551)acG>acA	p.T2517T	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Silent_p.T1993T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2517	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTGCTGTTCGTGGTGGCAA	0.562000														42			6		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707874	26707874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:26707874G>A	uc003acb.3	+	7	2018	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	SEZ6L_uc003acd.3_Missense_Mutation_p.E608K|SEZ6L_uc011akd.2_Missense_Mutation_p.E608K|SEZ6L_uc003ace.3_Missense_Mutation_p.E608K|SEZ6L_uc011akc.2_Missense_Mutation_p.E608K|SEZ6L_uc003acc.3_Missense_Mutation_p.E608K|SEZ6L_uc003acf.1_Missense_Mutation_p.E381K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E381K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	608	Sushi 2.					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						GGCCATCATCGAATGCATCAA	0.592000														173			26		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575918	52575918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:52575918G>A	uc001jjj.3	-	8	1177	c.989C>T	c.(988-990)tCt>tTt	p.S330F	A1CF_uc010qho.2_Missense_Mutation_p.S338F|A1CF_uc010qhn.2_Missense_Mutation_p.S338F|A1CF_uc009xov.3_Missense_Mutation_p.S330F|A1CF_uc001jji.3_Missense_Mutation_p.S330F|A1CF_uc001jjh.3_Missense_Mutation_p.S338F	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	330					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGGCCCAAAGAGTAGGTATA	0.517000														39			4		0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43508741	43508741	+	Nonsense_Mutation	SNP	G	A	A	rs143336043		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:43508741G>A	uc003jnz.2	-	2	625	c.223C>T	c.(223-225)Cga>Tga	p.R75*	C5orf34_uc011cpx.2_5'UTR	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	75								p.R75*(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAAGAGTTTCGAAAATCTAGG	0.289000														76			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076530	9076530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9076530C>T	uc002mkp.3	-	2	11120	c.10916G>A	c.(10915-10917)gGa>gAa	p.G3639E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3640	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						CAGGCTGGTTCCAATGACAGT	0.448000														44			3		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048900	180048900	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:180048900G>A	uc003mlz.4	-	12	1741	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	FLT4_uc003mma.4_Silent_p.I554I|FLT4_uc003mmb.1_Silent_p.I87I|FLT4_uc011dgy.2_Silent_p.I554I	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	554					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCGTCGGGGATGGCTGTGG	0.652000														172			20		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074666	106074666	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:106074666G>A	uc001kyf.3	-	2	1597	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	ITPRIP_uc001kye.3_Silent_p.L382L|ITPRIP_uc001kyg.3_Silent_p.L382L|ITPRIP_uc021pxv.1_Silent_p.L382L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	382						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAAAGGACAGGAGCCAGTCT	0.592000														66			5		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984965	7984965	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7984965C>T	uc001mfv.1	-	0	95	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	26	DAPIN.						ATP binding	p.F25F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTTAACTTCTTGAAATCGT	0.572000														100			9		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520640	33520640	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33520640C>T	uc002hjd.2	-	0	773	c.687G>A	c.(685-687)gtG>gtA	p.V229V		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	229						integral to membrane											CCAGCAGCCCCACCAAGCCAG	0.632000														101			8		0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880426	101880426	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101880426G>A	uc001tid.3	+	5	783	c.624G>A	c.(622-624)ggG>ggA	p.G208G	SPIC_uc010svp.2_Silent_p.G208G|SPIC_uc009zua.3_Silent_p.G83G|SPIC_uc021rcq.1_Silent_p.G83G	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	208						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATTTCCTGGGGAAAGAGATCT	0.388000														153			13		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17660448	17660448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17660448C>T	uc001baj.2	+	2	312	c.284C>T	c.(283-285)tCa>tTa	p.S95L	PADI4_uc009vpc.2_Missense_Mutation_p.S95L	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	95					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GTTCAGATTTCATACTACGGA	0.532000														61			9		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029489	32029489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32029489C>T	uc003nzl.2	-	20	7379	c.7177G>A	c.(7177-7179)Gaa>Aaa	p.E2393K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2453	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGTCTCTTCCTCTGCAGCT	0.622000														60			4		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127318180	127318180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127318180C>T	uc003ejp.3	+	1	83	c.26C>T	c.(25-27)aCc>aTc	p.T9I	MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	9	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAATCCTTCACCATGGCATCC	0.587000														389			38		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134455	58134455	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:58134455C>T	uc003djj.2	+	35	6132	c.5967C>T	c.(5965-5967)ccC>ccT	p.P1989P	FLNB_uc010hne.2_Silent_p.P2020P|FLNB_uc003djk.2_Silent_p.P1978P|FLNB_uc010hnf.2_Silent_p.P1965P|FLNB_uc003djl.2_Silent_p.P1809P|FLNB_uc003djm.2_Silent_p.P1796P|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1989	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAACAGCCCCGTGTCTATCA	0.572000														77			4		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141758086C>T	uc003vwy.3	+	30	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1259	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)	ACTCTGAGATCGCCAGCTTGT	0.498000														263			18		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149520342	149520342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:149520342C>T	uc010zbt.2	+	5	946	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	307					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TAATGGAAATCATCACAAAGT	0.358000														29			3		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91348265	91348265	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:91348265C>T	uc001tbj.3	-	0	689	c.255G>A	c.(253-255)tgG>tgA	p.W85*		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	85								p.W85C(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CCCAGCACCCCCAGTTAGAGC	0.632000														49			5		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032214	10032214	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:10032214C>T	uc010uym.2	-	3	919	c.609G>A	c.(607-609)gtG>gtA	p.V203V	GRIN2A_uc002czo.4_Silent_p.V203V|GRIN2A_uc010uyn.2_Silent_p.V46V|GRIN2A_uc002czr.4_Silent_p.V203V	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	203					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAGTGTGATCACATTCTGCA	0.498000														84			6		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2057203	2057203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:2057203G>A	uc003wpx.4	+	24	3199	c.3061G>A	c.(3061-3063)Gaa>Aaa	p.E1021K	MYOM2_uc011kwi.2_Missense_Mutation_p.E446K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1021					muscle contraction	myosin filament	structural constituent of muscle	p.S1020*(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTGAAATCGGAATTAGCTTA	0.413000														45			7		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854222	88854222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:88854222C>T	uc010kbz.3	-	1	902	c.772G>A	c.(772-774)Gag>Aag	p.E258K	CNR1_uc011dzr.2_Missense_Mutation_p.E258K|CNR1_uc011dzs.2_Missense_Mutation_p.E258K|CNR1_uc003pmq.4_Missense_Mutation_p.E258K|CNR1_uc011dzt.2_Missense_Mutation_p.E258K|CNR1_uc010kca.3_Missense_Mutation_p.E225K|CNR1_uc021zco.1_Missense_Mutation_p.E258K	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	258					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAGTTTCTCGCAGTTCCAG	0.527000														90			10		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230656937	230656937	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:230656937C>A	uc002vpx.1	-	27	4175	c.4066G>T	c.(4066-4068)Gga>Tga	p.G1356*	TRIP12_uc021vxw.1_Nonsense_Mutation_p.G1341*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.G1038*|TRIP12_uc002vpw.1_Nonsense_Mutation_p.G1308*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1308					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTACTCTTCCATACCCTGAA	0.353000														100			6		2.17888e-05	2.19448e-05	1	1	0
MICAL1	64780	broad.mit.edu	37	6	109771616	109771616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:109771616C>T	uc011eaq.2	-	7	1426	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	MICAL1_uc003ptj.3_Missense_Mutation_p.D360N|MICAL1_uc003ptk.3_Missense_Mutation_p.D360N|MICAL1_uc010kdr.3_Intron	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	360					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCAGAGACATCAGGCTGCCCA	0.617000														84			10		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204981968	204981969	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:204981968_204981969GG>AA	uc010prc.2	+	25	3494_3495	c.1965_1966GG>AA	c.(1963-1968)aaggaa>aaAAaa	p.E656K	NFASC_uc001hbj.3_Missense_Mutation_p.E1156K|NFASC_uc010pra.2_Missense_Mutation_p.E1090K|NFASC_uc001hbi.3_Missense_Mutation_p.E1085K|NFASC_uc010prb.2_Missense_Mutation_p.E1105K|NFASC_uc001hbl.2_Missense_Mutation_p.E232K|NFASC_uc001hbm.2_Missense_Mutation_p.E179K|NFASC_uc009xbh.2_Missense_Mutation_p.R10K|NFASC_uc001hbo.2_Missense_Mutation_p.R31K			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1263	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGACCCCAAGGAAGAGGATGG	0.540000														103			4		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536740	4536740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4536740C>T	uc002fyh.3	-	8	1242	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E	ALOX15_uc010vsd.2_Missense_Mutation_p.G367E|ALOX15_uc010vse.2_Missense_Mutation_p.G428E	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	406	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGAGACCAGCCCAGTCCTGGC	0.527000														177			15		0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159707982	159707982	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:159707982C>T	uc003fcx.3	+	1	368	c.147C>T	c.(145-147)ctC>ctT	p.L49L	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	15					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCCTGGTCCTCCTGGACCACC	0.612000														75			8		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636423	196636423	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196636423G>A	uc002utj.4	-	60	11495	c.11394C>T	c.(11392-11394)acC>acT	p.T3798T	DNAH7_uc002uti.4_Silent_p.T281T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3798					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCTCTTATGGTCTTCAGTA	0.373000														154			7		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23857013	23857013	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23857013G>A	uc001wjv.3	-	30	4550	c.4479C>T	c.(4477-4479)tcC>tcT	p.S1493S		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1493					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGCTCCAGGGACTCCTCGT	0.582000														180			12		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552443	43552443	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:43552443G>A	uc001zrd.2	-	2	251	c.243C>T	c.(241-243)cgC>cgT	p.R81R	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	81					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCTGTGATGGCGTGCCAGGC	0.672000														31			7		0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102962307	102962307	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:102962307C>A	uc011mse.2	-	8	1640	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*		NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	407						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			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTTCTCCTTCCCTTAGAAGA	0.527000														34			14		1.01871e-10	1.03023e-10	1	1	0
SAMD3	154075	broad.mit.edu	37	6	130465694	130465694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:130465694C>T	uc003qbw.3	-	11	1862	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	SAMD3_uc003qbx.3_Missense_Mutation_p.E512K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	512										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AATCCTACTTCGTTTTCCTTT	0.368000														34			4		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175157	102175157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:102175157C>T	uc003dvt.1	+	3	596	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	ZPLD1_uc003dvs.1_Missense_Mutation_p.L150F|ZPLD1_uc011bhg.1_Missense_Mutation_p.L150F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	150	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCTGGGCTTCTTTACAAATT	0.368000														211			18		0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55273872	55273872	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:55273872C>T	uc002lgs.2	-	9	1341	c.1113G>A	c.(1111-1113)ggG>ggA	p.G371G	NARS_uc010xea.1_Silent_p.G122G	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	371					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding	p.G371W(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GCACTATGCTCCCTGCAGGTG	0.458000														173			17		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664558	44664558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44664558C>T	uc010zxl.1	+	3	567	c.491C>T	c.(490-492)tCc>tTc	p.S164F	SLC12A5_uc002xra.2_Missense_Mutation_p.S141F|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.S141F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	164					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATCTGCTGCTCCTGTGTGAGT	0.612000														98			4		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767709	105767709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:105767709G>A	uc004bbs.2	+	4	866	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	266	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.K265N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AGATGCAAAGGAGATTAAAAA	0.383000														51			10		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510261	16510261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:16510261G>A	uc003goz.3	-	6	1104	c.788C>T	c.(787-789)tCc>tTc	p.S263F	LDB2_uc003gpa.3_Missense_Mutation_p.S263F|LDB2_uc011bxh.2_Missense_Mutation_p.S235F|LDB2_uc003gpb.3_Missense_Mutation_p.S263F|LDB2_uc010iee.3_Missense_Mutation_p.S263F|LDB2_uc011bxi.2_Missense_Mutation_p.S139F	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	263							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTGCTGGTGGAATTTTTCCT	0.493000														49			3		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114511151	114511151	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:114511151C>T	uc001eem.3	+	12	2813	c.2652C>T	c.(2650-2652)gtC>gtT	p.V884V	HIPK1_uc001eel.3_Silent_p.V884V|HIPK1_uc001een.3_Silent_p.V884V|HIPK1_uc001eeo.3_Silent_p.V510V|HIPK1_uc001eep.3_Silent_p.V490V|HIPK1_uc001eeq.3_Silent_p.V176V	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCCTTGGTCCCTGTCCAAG	0.498000														141			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347041	140347041	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140347041G>A	uc003lii.3	+	0	1295	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.V230V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCGTGGATGGGGGCA	0.597000														82			8		0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32614620	32614620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32614620C>T	uc003ami.3	-	14	1863	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	621					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCAAGGCTTCCTCCTCCTCC	0.507000														124			35		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872876	15872876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:15872876C>T	uc002yju.1	-	5	824	c.742G>A	c.(742-744)Gag>Aag	p.E248K	SAMSN1_uc010gky.1_Missense_Mutation_p.E80K|SAMSN1_uc002yjv.1_Missense_Mutation_p.E316K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	248	SAM.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTAGGAACTCCTGCAGAGTC	0.428000														56			6		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108226151	108226151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:108226151C>T	uc001dvk.1	-	18	1790	c.1736G>A	c.(1735-1737)cGg>cAg	p.R579Q	VAV3_uc001dvj.1_Missense_Mutation_p.R19Q|VAV3_uc010ouv.1_Intron|VAV3_uc010ouw.1_Missense_Mutation_p.R579Q|VAV3_uc001dvl.1_Missense_Mutation_p.R403Q|VAV3_uc010oux.1_Missense_Mutation_p.R579Q	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	579					B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCATTGGTCCGTTTCTGTGC	0.363000														75			8		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219676954	219676954	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219676954C>T	uc002viz.4	+	2	890	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	152					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGGAAGGACACCACTGGTACC	0.542000														57			5		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012615	189012615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:189012615G>A	uc011cle.1	-	7	1523	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	TRIML2_uc003izj.1_Missense_Mutation_p.S187F|TRIML2_uc003izk.1_Missense_Mutation_p.S167F|TRIML2_uc003izl.2_Missense_Mutation_p.S359F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	359							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATACAGAGGGAAAACACAGG	0.473000														106			6		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16242265	16242265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:16242265G>A	uc003car.4	+	2	1321	c.846G>A	c.(844-846)atG>atA	p.M282I	GALNTL2_uc003caq.4_Missense_Mutation_p.M15I	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	282	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						TCGTCTTCATGGATGCCCACT	0.607000														44			4		0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233967	120233967	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:120233967G>A	uc003yop.3	+	2	375	c.273G>A	c.(271-273)gtG>gtA	p.V91V		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	91	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CTGGCATGGTGGCTCAAATTG	0.428000														67			5		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910707	59910707	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:59910707G>A	uc002age.3	+	2	719	c.270G>A	c.(268-270)gaG>gaA	p.E90E	GCNT3_uc002agd.3_Silent_p.E90E|GCNT3_uc021smz.1_Silent_p.E90E	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	90					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.L89M(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATAACCTGGAGGTCAAGAAGA	0.498000														94			7		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061553	40061553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40061553C>T	uc003ayc.3	+	21	3902	c.3902C>T	c.(3901-3903)tCc>tTc	p.S1301F	CACNA1I_uc003ayd.3_Missense_Mutation_p.S1266F|CACNA1I_uc003aye.3_Missense_Mutation_p.S1216F|CACNA1I_uc003ayf.3_Missense_Mutation_p.S1181F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1301					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)	ACACTCATCTCCTCCCTCAAG	0.617000														81			8		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70886434	70886434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70886434C>T	uc003pfc.1	+	41	2762	c.2645C>T	c.(2644-2646)cCc>cTc	p.P882L		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	882	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAGCAGGTCCCCCAGGAATA	0.408000														51			4		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73594990	73594990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:73594990C>T	uc002avm.4	+	28	4531	c.4339C>T	c.(4339-4341)Cac>Tac	p.H1447Y	NEO1_uc010ukx.2_Missense_Mutation_p.H1436Y|NEO1_uc010uky.2_Missense_Mutation_p.H1394Y|NEO1_uc002avn.4_Missense_Mutation_p.H1440Y|NEO1_uc010ukz.2_Missense_Mutation_p.H860Y	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1447					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGAGATGGCCCACCTGGAAGG	0.493000														41			4		0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37336780	37336780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:37336780C>T	uc003onq.4	+	2	954	c.761C>T	c.(760-762)tCc>tTc	p.S254F	RNF8_uc003onr.4_Missense_Mutation_p.S254F|RNF8_uc011dtx.2_Missense_Mutation_p.S186F	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	254					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GTGACCATGTCCAGGATTCTG	0.438000														59			8		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398343	10398343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10398343C>T	uc002gmo.3	-	36	5465	c.5371G>A	c.(5371-5373)Gaa>Aaa	p.E1791K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1791						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACCGTCTGTTCCAGGTTCTTC	0.562000														145			20		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31152341	31152341	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31152341C>T	uc002rns.3	-	11	1726	c.1086G>A	c.(1084-1086)cgG>cgA	p.R362R	GALNT14_uc002rnq.3_Silent_p.R337R|GALNT14_uc010ymr.2_Silent_p.R322R|GALNT14_uc002rnr.3_Silent_p.R357R|GALNT14_uc010ezo.2_Silent_p.R324R	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	357						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTCAGCTGTCCGCTTGGTGT	0.532000														61			15		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351792	89351792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:89351792C>T	uc002fmx.1	-	8	1619	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	ANKRD11_uc002fmy.1_Missense_Mutation_p.M386I|ANKRD11_uc002fnc.1_Missense_Mutation_p.M386I|ANKRD11_uc002fnb.1_Missense_Mutation_p.M343I	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	386						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTTAACCTCCATTTTGGGTA	0.458000														88			5		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60139793	60139793	+	Silent	SNP	C	T	T	rs115951404	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:60139793C>T	uc009wac.3	+	14	1784	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Silent_p.F500F|FGGY_uc001czl.4_Silent_p.F412F|FGGY_uc001czm.4_Silent_p.F201F	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	500					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGGGGATTTCGCTTCTGTAC	0.577000														38			3		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1844594	1844594	+	Silent	SNP	C	T	T	rs141646890		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:1844594C>T	uc003wpr.3	+	13	1714	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	ARHGEF10_uc003wpq.1_Silent_p.P537P|ARHGEF10_uc003wps.3_Silent_p.P474P|ARHGEF10_uc003wpt.3_Silent_p.P388P|ARHGEF10_uc003wpv.3_Silent_p.P245P|ARHGEF10_uc010lre.3_Silent_p.P192P	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	537	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCACAAAGCCCGCTTTTCTTG	0.393000														62			10		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64749412	64749412	+	Silent	SNP	G	A	A	rs139503857		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:64749412G>A	uc001xha.1	-	1	760	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	ESR2_uc001xgy.2_Silent_p.L98L|ESR2_uc001xgu.3_Silent_p.L98L|ESR2_uc001xgv.3_Silent_p.L98L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Silent_p.L98L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Silent_p.L98L|ESR2_uc001xgz.2_Silent_p.L98L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	98	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCCGCATACAGATGTGATAAC	0.493000														79			6		0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74109758	74109758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:74109758C>T	uc003kdm.3	-	5	620	c.577G>A	c.(577-579)Gat>Aat	p.D193N	FAM169A_uc010izm.3_Intron|FAM169A_uc003kdl.3_Missense_Mutation_p.D11N	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	193										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						AGCCCAAAATCTTTACCTCTG	0.398000														79			7		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114172997	114172997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114172997G>A	uc001kzu.3	+	11	1295	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	ACSL5_uc001kzs.3_Missense_Mutation_p.D339N|ACSL5_uc001kzt.3_Missense_Mutation_p.D339N|ACSL5_uc009xxz.3_Missense_Mutation_p.D339N|ACSL5_uc010qrj.2_Missense_Mutation_p.D121N	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	339					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCTGGCTGACGACATGAAGAC	0.478000														145			20		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37916582	37916582	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:37916582C>T	uc003tfn.3	+	11	1339	c.967C>T	c.(967-969)Cga>Tga	p.R323*		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	323	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										GGCATTACTTCGACCAAATCT	0.318000														29			8		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064779	42064779	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:42064779G>A	uc002yyq.1	-	2	917	c.465C>T	c.(463-465)atC>atT	p.I155I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	155	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGACGACAGTGATGTACGCCT	0.522000														72			7		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272821	77272821	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77272821A>T	uc001xsv.3	-	4	1431	c.1318T>A	c.(1318-1320)Tca>Aca	p.S440T		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	440										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TAGAGAGGTGAATCAGGGACA	0.567000														66			9		0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843023	22843023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:22843023G>A	uc002zwc.1	-	3	1477	c.701C>T	c.(700-702)cCt>cTt	p.P234L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.P234L	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCTGGAAAAGGTGCTCCATT	0.368000														101			12		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636764	142636764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142636764C>T	uc003wca.2	+	0	162	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	16						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GTTCCTGGTTCCTATCTTGCT	0.632000														60			5		0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151824892	151824892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:151824892G>A	uc021oyw.1	-	1	299	c.167C>T	c.(166-168)gCt>gTt	p.A56V		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	56							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTGGGAAGAGCATAATCCTT	0.512000														141			5		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72745747	72745747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:72745747C>T	uc003tya.2	+	4	688	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	FKBP6_uc003twz.2_Missense_Mutation_p.R156C|FKBP6_uc011kew.1_Missense_Mutation_p.R181C|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	186					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R186C(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCGCCAGAATCGTTTCTATGA	0.423000														96			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077304	9077304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9077304G>A	uc002mkp.3	-	2	10346	c.10142C>T	c.(10141-10143)tCa>tTa	p.S3381L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3382	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						ATCTGTCAATGAGCTCACAGA	0.473000														184			14		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133619	167133619	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:167133619G>A	uc010fpl.3	-	15	3056	c.2715C>T	c.(2713-2715)tcC>tcT	p.S905S	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.	916						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)	CAATCAGGAAGGAGTGGAAGA	0.493000														130			7		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27455978	27455978	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27455978G>A	uc003xfy.2	-	8	1520	c.1373_splice	c.e8+1	p.R458_splice	CLU_uc003xfw.2_Splice_Site_p.R447_splice|CLU_uc003xfx.2_Splice_Site_p.R447_splice|CLU_uc003xfz.2_Splice_Site_p.R447_splice	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	447					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTGCTTACCGGTGCTTTTTG	0.547000														60			5		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059122	11059122	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:11059122G>A	uc010hdq.3	+	2	636	c.225G>A	c.(223-225)ggG>ggA	p.G75G		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	75					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.C74C(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCTCTGCGGGAAAAATGGTG	0.607000														92			8		0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48107073	48107073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:48107073C>T	uc001rpu.2	-	6	1009	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ENDOU_uc010sll.2_Missense_Mutation_p.E50K|ENDOU_uc001rpt.2_Missense_Mutation_p.E243K|ENDOU_uc010slm.2_Missense_Mutation_p.E221K	NM_001172439	NP_001165910	P21128	ENDOU_HUMAN	Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA.	284					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						AAGACATGTTCAAAGCCACTC	0.502000														149			12		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119594328	119594328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:119594328C>T	uc001txa.2	+	12	1949	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	521	Arg-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.R521G(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCCTACTATCGGCCCAGCCC	0.692000														58			9		0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415434	213415434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:213415434G>A	uc010ptr.2	+	10	2774	c.2615G>A	c.(2614-2616)aGt>aAt	p.S872N	RPS6KC1_uc001hkd.3_Missense_Mutation_p.S860N|RPS6KC1_uc010pts.2_Missense_Mutation_p.S660N|RPS6KC1_uc010ptt.2_Missense_Mutation_p.S660N|RPS6KC1_uc010ptu.2_Missense_Mutation_p.S691N|RPS6KC1_uc010ptv.2_Missense_Mutation_p.S407N|RPS6KC1_uc001hke.3_Missense_Mutation_p.S691N	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	872	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAGGGTGAAAGTGGTTTAGTG	0.403000														66			4		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152195654	152195654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152195654C>T	uc001ezt.1	-	1	152	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	26	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCAACGTATCATACTCCCCA	0.413000														147			6		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185786	8185786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8185786G>A	uc003wsh.4	-	3	2506	c.2506C>T	c.(2506-2508)Ccc>Tcc	p.P836S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	836							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCGGGCTTGGGGGAGCCTTGG	0.612000														178			10		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:151870060C>T	uc022chf.1	+	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA6_uc004ffq.1_Silent_p.F250F|MAGEA6_uc004ffr.1_Silent_p.F250F	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000														108			32		0	0	1	0	0
T	6862	broad.mit.edu	37	6	166580193	166580193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:166580193G>A	uc003qut.1	-	1	644	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	T_uc003quu.1_Missense_Mutation_p.P120S|T_uc003quv.1_Missense_Mutation_p.P120S	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	120					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A119A(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACGCAGCTGGGCGCCTGCGGC	0.632000									Chordoma, Familial Clustering of					86			7		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76437259	76437259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:76437259C>T	uc010dhp.2	-	71	11676	c.11551G>A	c.(11551-11553)Ggc>Agc	p.G3851S	DNAH17_uc002jvq.3_Missense_Mutation_p.G136S|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACTTGCTGCCCATCTTTTCC	0.617000														49			4		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853798	35853798	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35853798C>T	uc003zyo.3	+	12	2668	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	TMEM8B_uc003zym.3_Silent_p.G460G	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	460					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GCCTCGTGGGCCCAGGAGGGG	0.637000														49			13		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15734686	15734686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:15734686C>T	uc001rcv.2	+	22	3676	c.3206C>T	c.(3205-3207)tCa>tTa	p.S1069L	PTPRO_uc001rcw.2_Missense_Mutation_p.S1041L|PTPRO_uc001rcx.2_Missense_Mutation_p.S258L|PTPRO_uc001rcy.2_Missense_Mutation_p.S258L|PTPRO_uc001rcz.2_Missense_Mutation_p.S230L|PTPRO_uc001rda.2_Missense_Mutation_p.S230L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1069	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAGATGATTTCAGAGGAAGAG	0.483000														52			7		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123109328	123109328	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123109328C>T	uc003vkn.3	-	8	2098	c.1521G>A	c.(1519-1521)ctG>ctA	p.L507L	IQUB_uc003vko.3_Silent_p.L507L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.L507L	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	507										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGATATTTTTCAGCATAATGC	0.398000														102			7		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160664719	160664719	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:160664719G>A	uc003qtf.3	-	6	1338	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	388					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.E387K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGGCAGCTGGGAATTCAACCA	0.552000														92			7		0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23213840	23213840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:23213840C>T	uc003svs.4	+	10	1977	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	KLHL7_uc003svr.4_Missense_Mutation_p.R540C|KLHL7_uc011jys.2_Missense_Mutation_p.R486C|KLHL7_uc011jyt.2_Missense_Mutation_p.R337C|KLHL7_uc003svt.3_Missense_Mutation_p.R514C|KLHL7_uc011jyv.2_Missense_Mutation_p.R292C	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	562						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCAAAGTTCGTGCTTTTCC	0.398000														124			12		0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95234462	95234462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:95234462C>T	uc003klr.4	-	7	1357	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	336					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GTGAGATATTCGGGCTTTTTT	0.448000														208			13		0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62357301	62357301	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:62357301G>A	uc003dlh.2	-	1	1101	c.894C>T	c.(892-894)gtC>gtT	p.V298V	FEZF2_uc003dli.2_Silent_p.V298V	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	298					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTCCGGTGTGGACCGGCATGT	0.582000														116			12		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984278	7984278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7984278G>A	uc002gjy.1	-	3	712	c.451C>T	c.(451-453)Cct>Tct	p.P151S	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	151	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGCAGGCCAGGAAGAAAGACT	0.642000										Multiple Myeloma(8;0.094)				80			7		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109391555	109391555	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:109391555C>T	uc001dwa.3	-	3	1430	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	AKNAD1_uc010ovb.2_Silent_p.Q94Q|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	387										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTTGATCAGTCTGTTCTTTCA	0.338000														66			5		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77333740	77333740	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77333740G>A	uc001xsx.2	+	12	1515	c.1401G>A	c.(1399-1401)gtG>gtA	p.V467V	C14orf166B_uc010asn.1_Silent_p.V227V|C14orf166B_uc001xsw.2_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	467										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TCAGGGAGGTGATAAAGAAGC	0.567000														50			9		0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512920	125512920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125512920C>T	uc022bna.1	+	0	794	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						AGGCCCCTGTCCATGTACTCA	0.498000														42			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263050	140263050	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140263050C>T	uc003lif.2	+	0	1197	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S399S|PCDHAC2_uc003lid.3_Silent_p.S399S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	413	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGTCCACCTACAAGA	0.587000														279			17		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649195	51649195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51649195C>T	uc002pvv.1	+	3	913	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	SIGLEC7_uc002pvw.1_Missense_Mutation_p.P189S|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	282	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGACAGCAATCCCCCTGCCAG	0.572000														181			32		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618311	158618311	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158618311G>A	uc001fst.1	-	25	3901	c.3702C>T	c.(3700-3702)ccC>ccT	p.P1234P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1234					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.V1233I(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TATCTCCCAGGGGTACGAGGT	0.493000														53			5		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90280818	90280818	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90280818C>T	uc002boj.3	+	14	1724	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	WDR93_uc010bnr.3_Silent_p.S513S|WDR93_uc010upz.2_Silent_p.S258S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	541					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATCTTTTCCAAGAATGGCT	0.557000														170			16		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509215	110509215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110509215G>A	uc003yne.3	+	63	10499	c.10395G>A	c.(10393-10395)atG>atA	p.M3465I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3465					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATCTATATGAACCAAGATG	0.378000										HNSCC(38;0.096)				77			7		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668757	8668757	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8668757G>A	uc002mkj.1	-	4	721	c.447C>T	c.(445-447)atC>atT	p.I149I	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	149					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGTCTGCCACGATCAGGCCGT	0.552000														65			5		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356583	55356583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55356583C>T	uc010spd.1	-	8	1232	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	TESPA1_uc001sgl.3_Missense_Mutation_p.E229K|TESPA1_uc001sgm.3_Missense_Mutation_p.E114K|TESPA1_uc010spb.1_Missense_Mutation_p.E114K|TESPA1_uc010spc.1_Missense_Mutation_p.E229K|TESPA1_uc001sgn.3_Missense_Mutation_p.E367K	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	367																	TGCTGTGTTTCCTCTTCACAG	0.517000														37			4		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656290	19656290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19656290G>A	uc002nmw.4	+	7	3039	c.2954G>A	c.(2953-2955)cGa>cAa	p.R985Q	CILP2_uc002nmv.4_Missense_Mutation_p.R979Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	979						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGGAGTGTGCGAGACCCCGAG	0.677000														46			4		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482644	71482644	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71482644G>A	uc002faf.3	-	5	2098	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	ZNF23_uc002fah.3_Silent_p.A428A|ZNF23_uc002fad.3_Silent_p.A370A|ZNF23_uc010vmf.2_Silent_p.A370A|ZNF23_uc002fag.3_Silent_p.A370A|ZNF23_uc002fai.3_Silent_p.A467A	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TACATCTGAAGGCTTTCCCGC	0.463000														75			4		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872598	54872598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54872598C>T	uc002qfk.1	-	2	599	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	LAIR1_uc002qfl.1_Missense_Mutation_p.G97R|LAIR1_uc002qfm.1_Missense_Mutation_p.G96R|LAIR1_uc002qfn.1_Missense_Mutation_p.G96R|LAIR1_uc010yex.2_Missense_Mutation_p.G90R|LAIR1_uc002qfo.3_Missense_Mutation_p.G79R	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	97	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CGATAAGGCCCGGCATTTCCT	0.507000														217			10		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032384	21032384	+	Missense_Mutation	SNP	C	T	T	rs145877520		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:21032384C>T	uc010sil.2	+	8	1215	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	SLCO1B3_uc001rek.3_Missense_Mutation_p.P384S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P384S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	384					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CATAACCATTCCTACGGTTGC	0.269000														27			4		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279916	47279916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47279916G>A	uc001cqn.4	+	6	895	c.811G>A	c.(811-813)Gat>Aat	p.D271N	CYP4B1_uc009vyl.1_Missense_Mutation_p.D107N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D270N|CYP4B1_uc009vym.3_Missense_Mutation_p.D256N|CYP4B1_uc010omk.2_Missense_Mutation_p.D107N|CYP4B1_uc010oml.1_Missense_Mutation_p.D108N	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.E271*(1)		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)					AGCCCTGCAGGATGAGAAGGT	0.577000														55			3		0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97371042	97371042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97371042G>A	uc001kkz.3	-	15	2323	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	ALDH18A1_uc001kky.3_Missense_Mutation_p.S692F|ALDH18A1_uc010qog.2_Missense_Mutation_p.S583F|ALDH18A1_uc010qoh.2_Missense_Mutation_p.S482F	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	694	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	ATCCGTGTGGGAGCTGCCATA	0.522000														180			19		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74005189	74005190	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:74005189_74005190CC>TG	uc003uaq.3	+	23	2872_2873	c.2479_2480CC>TG	c.(2479-2481)cct>TGt	p.P827C	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.P844C|GTF2IRD1_uc003uap.3_Missense_Mutation_p.P812C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P812C	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	827						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGTGCTGGTCCCTTATAAACTA	0.599000														73			4		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538048	55538048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55538048G>A	uc003xsd.1	+	3	1754	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	536					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E536K(2)		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)			AAGAAAAAAGGAAAACAGTCT	0.338000														42			5		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164777087	164777087	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164777087C>T	uc003fei.3	-	11	1210	c.1147_splice	c.e11-1	p.D383_splice		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	383	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTGTGTATCCTGAAAGTTA	0.348000										HNSCC(35;0.089)				40			3		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40081463	40081463	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:40081463C>T	uc002xka.1	-	20	3418	c.3240G>A	c.(3238-3240)acG>acA	p.T1080T		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1080					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCTGGATCTCGTGGGCCTTT	0.547000														56			6		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099719	142099719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142099719C>T	uc003vyz.1	-	1	83	c.83G>A	c.(82-84)aGg>aAg	p.R28K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.R28K					SubName: Full=Uncharacterized protein;																		GACTTTGTACCTAGGGGACTG	0.473000														33			3		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438189	23438189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:23438189G>A	uc002zwu.1	+	1	844	c.307G>A	c.(307-309)Gac>Aac	p.D103N	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	103						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.D103D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGCGCCTACGACGCTGTGCA	0.662000														173			20		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592713	156592713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156592713G>A	uc003lwn.3	-	0	567	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	156						nucleus		p.C155C(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAGAAGAGGGACACAACTG	0.473000														81			9		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446848	226446848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:226446848G>A	uc002voe.2	+	3	890	c.715G>A	c.(715-717)Gag>Aag	p.E239K	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.E9K	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	239																	GGGAGACCCCGAGGAAGAGGA	0.587000														127			14		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800820	185800820	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:185800820T>A	uc002uph.3	+	3	1291	c.697T>A	c.(697-699)Ttc>Atc	p.F233I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	233						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						AGCTGCAGCCTTCTCTGAATA	0.453000														76			5		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150838997	150838997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150838997C>T	uc003wjg.1	+	13	1820	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	AGAP3_uc003wje.1_Missense_Mutation_p.S275L|AGAP3_uc003wjj.1_Missense_Mutation_p.S105L|AGAP3_uc003wjk.1_Missense_Mutation_p.S24L	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	570					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCAGAGGAGTCGTTTGAATTT	0.612000														111			4		0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3870338	3870338	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3870338C>T	uc002wkc.3	+	0	597	c.591C>T	c.(589-591)tcC>tcT	p.S197S	BC012193_uc002wjz.2_5'Flank|BC012193_uc002wka.1_5'Flank|PANK2_uc002wkb.3_Intron|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_5'Flank|PANK2_uc002wkf.3_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTCGGTCTCCCGCCAGCGCG	0.756000														34			3		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29408455C>T	uc011dlp.2	+	0	740	c.663C>T	c.(661-663)ctC>ctT	p.L221L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCGTATCCTCGTTACCATCT	0.592000														258			16		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864656	30864656	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30864656G>A	uc003ahy.3	-	4	351	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	SEC14L3_uc003ahz.3_Silent_p.L11L|SEC14L3_uc003aia.3_Silent_p.L29L|SEC14L3_uc003aib.3_Silent_p.L29L	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	88	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TAGCCACACAGGCCCCCAGGC	0.562000														216			17		0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124553243	124553243	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124553243G>A	uc003yqr.3	-	0	251	c.12C>T	c.(10-12)ctC>ctT	p.L4L	FBXO32_uc010mdk.3_Silent_p.L4L	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	4										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTCCTGCCCGAGGAATGGCA	0.697000														45			7		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110439807	110439807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:110439807G>A	uc010npv.1	+	13	1481	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	PAK3_uc010npt.1_Missense_Mutation_p.G449E|PAK3_uc010npu.1_Missense_Mutation_p.G449E|PAK3_uc004eoy.1_Missense_Mutation_p.G204E|PAK3_uc004eoz.2_Missense_Mutation_p.G449E|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.G470E|PAK3_uc004epa.2_Missense_Mutation_p.G464E	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	464	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGGTCTCTTGGAATTATGGCA	0.443000										TSP Lung(19;0.15)				31			7		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78931467	78931467	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:78931467C>T	uc002jyt.1	+	28	4219	c.3414C>T	c.(3412-3414)ctC>ctT	p.L1138L	RPTOR_uc010wug.1_Silent_p.L980L|RPTOR_uc002jyu.1_Silent_p.L31L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1138					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGGCCTCCTCATGAGCTCAG	0.627000														154			20		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912697	94912697	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94912697C>T	uc001ydd.1	-	2	948	c.888G>A	c.(886-888)ctG>ctA	p.L296L		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	296					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.D296G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCCATTTTCTCAGGGTCTGTG	0.562000														102			5		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12341302	12341302	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:12341302A>G	uc001mkg.1	+	3	1777	c.1486A>G	c.(1486-1488)Acc>Gcc	p.T496A		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	496	Poly-Ser.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGCCTCTTCAACCTCCTCCTC	0.493000														98			10		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657706	143657706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143657706C>T	uc003wds.1	+	0	687	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTGCCTGGTTCTTTTGTCCTA	0.502000														109			4		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539302	187539302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187539302G>A	uc003izf.3	-	9	8626	c.8438C>T	c.(8437-8439)cCa>cTa	p.P2813L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2813	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCCTCATATGGACTAGATTC	0.458000										HNSCC(5;0.00058)				130			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065032	9065032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9065032G>A	uc002mkp.3	-	2	22618	c.22414C>T	c.(22414-22416)Cat>Tat	p.H7472Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7474	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						GAGAAAGGATGAATTTTCTCC	0.483000														104			11		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18870933	18870933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18870933C>T	uc010ebv.3	+	8	917	c.829C>T	c.(829-831)Ccg>Tcg	p.P277S	CRTC1_uc002nkb.4_Missense_Mutation_p.P261S|CRTC1_uc010ebw.3_Missense_Mutation_p.P126S	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	261					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCTCCCGACCCCGCTGGACCC	0.692000														79			10		0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39477501	39477501	+	Silent	SNP	C	T	T	rs143077923		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39477501C>T	uc021wpr.1	+	3	785	c.492C>T	c.(490-492)ttC>ttT	p.F164F	APOBEC3F_uc003awx.3_Silent_p.F164F|APOBEC3F_uc003awy.3_Silent_p.F97F	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	164					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding	p.F164F(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGAGCAAGTTCGTGTACAGCC	0.483000														170			12		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080513	55080513	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55080513C>T	uc001cxn.3	-	3	567	c.435G>A	c.(433-435)aaG>aaA	p.K145K	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	145						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTTGATGTTCTTGAAGTCCA	0.562000														44			5		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991221	39991221	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:39991221A>C	uc002xjy.1	-	3	1212	c.988T>G	c.(988-990)Tgt>Ggt	p.C330G		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	330						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CGCAGGTCACACTCACTCTGG	0.677000														20			4		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119985	55119985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55119985C>T	uc003pcl.3	+	2	769	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R87W	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	152					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGCCTTGGATCGGTGGTATGC	0.453000														67			11		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58980029	58980029	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:58980029C>T	uc002iyv.4	+	10	896	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	BCAS3_uc010wow.1_Nonsense_Mutation_p.Q50*|BCAS3_uc002iyu.4_Nonsense_Mutation_p.Q263*|BCAS3_uc002iyw.4_Nonsense_Mutation_p.Q259*|BCAS3_uc002iyx.1_Nonsense_Mutation_p.Q78*|BCAS3_uc002iyy.4_Nonsense_Mutation_p.Q34*	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	263						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGACAACATTCAGTCTTATAC	0.418000														126			17		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736727	12736727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:12736727C>T	uc004cuz.2	+	15	4288	c.3782C>T	c.(3781-3783)tCa>tTa	p.S1261L	FRMPD4_uc011mij.2_Missense_Mutation_p.S1253L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1261					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TACATTCCTTCAGAGGAGAGA	0.597000														37			9		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967994	93967994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:93967994C>T	uc003poe.3	-	10	2174	c.1933G>A	c.(1933-1935)Ggt>Agt	p.G645S	EPHA7_uc003pof.3_Missense_Mutation_p.G640S|EPHA7_uc011eac.2_Missense_Mutation_p.G641S	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	645	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGACTTCACCGAATTCTCCT	0.348000														97			14		0	0	1	0	0
GCNT4	51301	broad.mit.edu	37	5	74325203	74325203	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:74325203C>T	uc003kdn.3	-	0	1522	c.660G>A	c.(658-660)tgG>tgA	p.W220*		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	220					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TAACATATTTCCACTGGATTG	0.398000														95			8		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563245	75563245	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:75563245C>T	uc002fej.1	-	4	1377	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	CHST5_uc002fei.3_Silent_p.R346R|CHST5_uc021tlk.1_Silent_p.R346R	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	346					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGCGCGCATTCCTAGACGAAG	0.662000														117			13		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60407285	60407285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:60407285C>T	uc001vht.3	-	23	3202	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	DIAPH3_uc001vhu.3_Missense_Mutation_p.E732K	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	995	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGAAAGTCTTCCACAGACACC	0.303000														41			3		0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112641098	112641098	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:112641098A>G	uc001kzh.3	+	2	437	c.151A>G	c.(151-153)Aac>Gac	p.N51D	PDCD4_uc001kzg.3_Missense_Mutation_p.N40D|PDCD4_uc010qre.2_Missense_Mutation_p.N37D	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	51					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATCCTCCATTAACGAAGCTAG	0.443000														89			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108224574	108224574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108224574C>T	uc003dxa.1	-	2	308	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	84	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTTACCTCTCCATCTGCTGT	0.328000														109			5		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121615313	121615313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121615313G>A	uc003eep.2	+	1	319	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SLC15A2_uc011bjn.1_Missense_Mutation_p.E56K	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	56					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGAATTCTGCGAGCGCTTTTC	0.453000														100			8		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183310	118183310	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:118183310G>A	uc003yoh.3	+	6	1097	c.867G>A	c.(865-867)gaG>gaA	p.E289E	SLC30A8_uc010mcz.3_Silent_p.E240E|SLC30A8_uc003yog.3_Silent_p.E240E|SLC30A8_uc011lia.2_Silent_p.E240E|SLC30A8_uc022bab.1_Silent_p.E240E	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	289					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTGTGAAAGAGCTTATTTTAG	0.448000														102			6		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743953	40743953	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:40743953C>T	uc002xkg.3	-	21	3169	c.2985G>A	c.(2983-2985)gtG>gtA	p.V995V	PTPRT_uc010ggj.3_Silent_p.V1014V|PTPRT_uc010ggi.3_Silent_p.V198V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	995	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)				GCACACATTTCACCTGTGGCC	0.512000														75			5		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39913700	39913700	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39913700G>A	uc002hxq.2	-	11	2290	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.S671S|JUP_uc002hxs.2_Silent_p.S671S	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	671					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCTTGAAGAGGGAGTTGGTGA	0.592000														151			8		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145051503	145051503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:145051503G>A	uc003qkt.3	+	52	7912	c.7820G>A	c.(7819-7821)cGg>cAg	p.R2607Q		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2607					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)		GCCCTGAGACGGGAGTTAAAG	0.458000														93			9		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085343	153085343	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153085343G>A	uc011dcy.2	+	10	1596	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	GRIA1_uc003lva.4_Silent_p.G513G|GRIA1_uc003luy.4_Silent_p.G513G|GRIA1_uc003luz.4_Silent_p.G418G|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.G433G|GRIA1_uc011dcx.2_Silent_p.G444G|GRIA1_uc011dcz.2_Silent_p.G523G|GRIA1_uc010jia.1_Silent_p.G493G	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	513					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAGTTTGGGGATCTCCATCA	0.408000														70			5		0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9412785	9412785	+	Silent	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9412785C>A	uc003bro.4	+	3	520	c.372C>A	c.(370-372)ctC>ctA	p.L124L	LOC440944_uc003brm.3_Intron|THUMPD3_uc003brn.4_Silent_p.L124L	NM_001114092	NP_056268	Q9BV44	THUM3_HUMAN	Homo sapiens THUMP domain containing 3 (THUMPD3), transcript variant 2, mRNA.	124							RNA binding|methyltransferase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CTGGAAAACTCCCATGGTCAA	0.323000														95			9		0.00010058	0.000101171	1	1	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24358083C>T	uc002dmf.3	+	1	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	80					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)		GCAAGAAAATCGATCACTTCC	0.582000														71			13		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232511	71232511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:71232511C>T	uc003hfg.1	+	2	286	c.205C>T	c.(205-207)Cca>Tca	p.P69S	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	69	Pro-rich.					extracellular region		p.S68S(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACCCCTTTCTCCACCCTATGG	0.547000														154			18		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654316	159654316	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:159654316C>T	uc010kjv.3	+	10	2972	c.2772C>T	c.(2770-2772)ccC>ccT	p.P924P	FNDC1_uc010kjw.1_Silent_p.P809P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	924						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAAGGAACCCATCCCAGAGA	0.607000														37			5		0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587601	37587601	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37587601G>A	uc004ddq.3	+	2	1303	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	407					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CCTGTGAGCCGATAGGAAAGG	0.473000														23			5		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282005	52282005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52282005C>T	uc001rzd.3	+	0	213	c.35C>T	c.(34-36)tCc>tTc	p.S12F	ANKRD33_uc001rzh.4_Missense_Mutation_p.S12F|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0								p.S12F(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGCGTTGCTTCCTGGGGAGGG	0.607000														174			17		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710875	117710875	+	Missense_Mutation	SNP	C	T	T	rs140178288	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117710875C>T	uc003pxp.1	-	11	1596	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	466					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAAATGATTCGCTTGGCTTG	0.493000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									35			3		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342471	40342472	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:40342471_40342472GG>AT	uc002rrx.3	-	9	2867_2868	c.2843_2844CC>AT	c.(2842-2844)tcc>tAT	p.S948Y	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.S943Y|SLC8A1_uc002rsb.2_Missense_Mutation_p.S940Y|SLC8A1_uc002rrz.3_Missense_Mutation_p.S935Y|SLC8A1_uc002rsa.3_Missense_Mutation_p.S912Y|SLC8A1_uc002rsd.4_Missense_Mutation_p.S912Y	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	948					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAAGAGGCAGGATGTGAGGAG	0.510000														80			12		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162098	29162098	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:29162098C>T	uc002hfs.1	+	1	1342	c.999C>T	c.(997-999)ccC>ccT	p.P333P	ATAD5_uc002hft.1_Silent_p.P230P	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	333					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)				CTATTCCGCCCAAAAAGACAG	0.373000														75			6		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404131	20404131	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20404131C>T	uc001vwj.2	+	0	365	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCCAGATATTCGTTCTTCACA	0.413000														56			6		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112695	81112695	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81112695G>A	uc001szg.2	+	2	768	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	211					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.V211L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAACATAGTGGACCGGATCA	0.473000														110			10		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518660	113518660	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:113518660C>T	uc010ljy.1	-	3	2518	c.2487G>A	c.(2485-2487)agG>agA	p.R829R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	829					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CATGTGTCTTCCTAGGATTGT	0.368000														110			4		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39212969	39212969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:39212969C>T	uc011aej.1	-	1	69	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E6K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	6					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)	CTCATGGATTCTGTCAGCTTG	0.343000														275			18		0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45953816	45953816	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:45953816A>C	uc001jci.1	-	6	986	c.747T>G	c.(745-747)atT>atG	p.I249M	MARCH8_uc001jch.2_Missense_Mutation_p.I531M|MARCH8_uc001jcj.1_Missense_Mutation_p.I249M|MARCH8_uc001jck.1_Missense_Mutation_p.I249M|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Missense_Mutation_p.I118M	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.	249						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATTTTTCAAAAATATTCTTTT	0.368000														118			9		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776035	120776035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:120776035G>A	uc001pxn.2	+	12	1596	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	GRIK4_uc009zav.1_Missense_Mutation_p.E437K|GRIK4_uc009zaw.1_Missense_Mutation_p.E437K|GRIK4_uc009zax.1_Missense_Mutation_p.E437K	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	437					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAACCACCAGGAGATGGAAGG	0.542000														302			17		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389842	77389842	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:77389842G>A	uc002ffc.4	-	8	1874	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	ADAMTS18_uc010chc.1_Silent_p.F73F|ADAMTS18_uc002ffe.1_Silent_p.F181F|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	485	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATACCTGAGGAATTTCTTGA	0.473000														72			6		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878025	44878025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:44878025C>T	uc001clv.1	+	1	616	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	RNF220_uc001clw.1_Missense_Mutation_p.R86C	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	86					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.R86L(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTTTGCCAATCGTGATTTCCC	0.507000														495			53		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079155	94079155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94079155C>T	uc001ybv.1	+	24	3385	c.3302C>T	c.(3301-3303)cCt>cTt	p.P1101L	UNC79_uc001ybs.1_Missense_Mutation_p.P1079L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1256						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						CAACAATCTCCTGAGAATGAC	0.483000														125			10		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186697847	186697847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186697847G>A	uc002upl.3	+	22	20885	c.20885G>A	c.(20884-20886)gGa>gAa	p.G6962E	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCCAAACAAGGATCTAAAATG	0.378000														43			6		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350776	146350776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:146350776G>A	uc010khw.1	+	1	593	c.123G>A	c.(121-123)atG>atA	p.M41I	GRM1_uc010khu.1_Missense_Mutation_p.M41I|GRM1_uc010khv.1_Missense_Mutation_p.M41I|GRM1_uc003qll.2_Missense_Mutation_p.M41I|GRM1_uc011edz.1_Missense_Mutation_p.M41I|GRM1_uc011eea.1_Missense_Mutation_p.M41I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	41					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGCCAGAATGGACGGAGATG	0.587000														127			14		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248759	20248759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20248759C>T	uc010tku.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGATAATTTCCTTTGGTGGA	0.448000														213			20		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32178660	32178660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32178660G>A	uc003obb.3	-	17	2873	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	912	EGF-like 23.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAATAGGAGGGGCCGCTGTCG	0.592000														34			4		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381247	147381247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:147381247G>A	uc021ovm.1	+	0	1165	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	GJA8_uc001epu.2_Missense_Mutation_p.E389K	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	389					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E389K(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCGCAGTCGGAGAAGGTGTC	0.577000														24			4		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644815	169644815	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169644815C>T	uc003fgd.3	+	5	1032	c.765C>T	c.(763-765)ctC>ctT	p.L255L	SAMD7_uc003fge.3_Silent_p.L255L|SAMD7_uc011bpo.2_Silent_p.L156L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	255										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGGAGAGCTCGAGCCCACCC	0.517000														83			6		0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140156541	140156541	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140156541G>A	uc003vvt.2	-	4	1122	c.897C>T	c.(895-897)ttC>ttT	p.F299F	MKRN1_uc003vvs.2_Silent_p.F235F|MKRN1_uc011krd.1_Silent_p.F33F|MKRN1_uc003vvv.4_Silent_p.F299F|MKRN1_uc003vvu.4_Silent_p.F235F	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	299							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGAGGATCCCGAAGCGGCGCT	0.527000														121			15		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606818	54606818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:54606818G>A	uc001cwv.1	-	2	1564	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	239	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTTGAAGTCGGACTTGAAGAC	0.647000														52			4		0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577850	16577850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16577850G>A	uc001ayg.3	-	9	1685	c.1469C>T	c.(1468-1470)cCa>cTa	p.P490L	FBXO42_uc001ayf.3_Missense_Mutation_p.P397L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	490										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTTCTGATCTGGTAGTGATCC	0.473000														64			11		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175434	112175435	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:112175434_112175435AC>TT	uc003kpz.4	+	16	4336_4337	c.4143_4144AC>TT	c.(4141-4146)ccactc>ccTTtc	p.L1382F	APC_uc011cvt.2_Missense_Mutation_p.L1364F|APC_uc003kpy.4_Missense_Mutation_p.L1382F|APC_uc010jbz.3_Missense_Mutation_p.L1099F|APC_uc010jca.3_Missense_Mutation_p.L682F	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1382	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.L1382fs*4(5)|p.L1382fs*33(2)|p.P1381S(2)|p.?(1)|p.K1192fs*3(1)|p.P1381fs*4(1)|p.Y1376fs*41(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGAGACCCCACTCATGTTTAG	0.465000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				66			4		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100365543	100365543	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100365543G>A	uc003uwj.3	+	25	5115	c.4950G>A	c.(4948-4950)acG>acA	p.T1650T	ZAN_uc003uwk.3_Silent_p.T1650T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.T227T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1650	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCTCTACACGAACTTTGGGC	0.602000														54			4		0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105241278	105241278	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105241278G>A	uc001ypk.3	-	6	1184	c.630C>T	c.(628-630)ctC>ctT	p.L210L	AKT1_uc001ypl.3_Silent_p.L210L|AKT1_uc010axa.3_Silent_p.L210L|AKT1_uc001ypm.3_Silent_p.L210L|AKT1_uc001ypn.3_Silent_p.L210L|AKT1_uc010tyk.2_Silent_p.L148L	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	210	Protein kinase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CACTCACTGTGAGGAAGGGGT	0.647000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									70			5		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725382	87725382	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:87725382C>T	uc003pli.3	+	1	1033	c.330C>T	c.(328-330)atC>atT	p.I110I	HTR1E_uc021zcg.1_Silent_p.I110I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	110					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			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)	CCTGCTCCATCCTCCACCTCT	0.562000														100			12		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84417585	84417585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:84417585G>A	uc021zcf.1	-	0	92	c.62C>T	c.(61-63)gCt>gTt	p.A21V	SNAP91_uc003pka.3_Missense_Mutation_p.A21V|SNAP91_uc011dze.2_Missense_Mutation_p.A21V|SNAP91_uc003pkc.3_Missense_Mutation_p.A21V|SNAP91_uc003pkd.3_Missense_Mutation_p.A21V|SNAP91_uc003pkb.3_5'UTR|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	21	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCTTGCTACAGCAGAGCCTGT	0.542000														57			5		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50255931	50255931	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:50255931T>G	uc002xwg.1	-	14	1619	c.1619A>C	c.(1618-1620)cAg>cCg	p.Q540P	ATP9A_uc010gih.1_Missense_Mutation_p.Q404P|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	540					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(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGGAAGATCTGTAGGATGGT	0.522000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		135			17		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														133			24		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112522872	112522872	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:112522872T>A	uc003pvu.2	-	4	749	c.440A>T	c.(439-441)tAt>tTt	p.Y147F	LAMA4_uc003pvv.2_Missense_Mutation_p.Y147F|LAMA4_uc003pvt.2_Missense_Mutation_p.Y147F	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	147	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATTTTTCCTATAGCAGGATTC	0.358000														234			17		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565605	24565605	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:24565605C>T	uc002wtw.1	+	2	1227	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	198					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCTGGGCATCGCAGCCTTCT	0.617000														128			11		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3900298	3900298	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3900298C>T	uc002cvv.3	-	2	1002	c.798_splice	c.e2+1	p.K266_splice	CREBBP_uc002cvw.3_Splice_Site_p.K266_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	266	Interaction with SRCAP.	Breakpoint for translocation to form MYST3-CREBBP.			N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTCACTTACCTTGGCCATGC	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							147			20		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77104307	77104307	+	Nonsense_Mutation	SNP	C	T	T	rs147932692		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:77104307C>T	uc002lmx.3	+	20	2439	c.2425C>T	c.(2425-2427)Cga>Tga	p.R809*	ATP9B_uc002lmw.1_Nonsense_Mutation_p.R809*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.R503*|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'Flank	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	809					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GAATGCATTTCGAAGGAAGCA	0.473000														60			13		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70148320	70148320	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:70148320C>T	uc003hej.3	+	1	812	c.810C>T	c.(808-810)ttC>ttT	p.F270F	UGT2B28_uc010ihr.3_Silent_p.F270F	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	270					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTCATCCATTCTTACCAAACA	0.413000														135			8		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546694	9546694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:9546694C>T	uc002wnl.2	-	5	1873	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	PAK7_uc002wnk.2_Missense_Mutation_p.G443E|PAK7_uc002wnj.2_Missense_Mutation_p.G443E|PAK7_uc010gby.1_Missense_Mutation_p.G443E	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	443	Linker.						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)			CCTGGGGTCTCCTGGGCTGAC	0.607000														131			8		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169487738	169487738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:169487738G>A	uc001ggg.1	-	22	6402	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2086	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.S2086L(2)		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)	TTTCTTAAACGAAGAAGCTGT	0.448000														23			3		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021123	5021123	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:5021123G>A	uc001qnh.3	+	1	1684	c.579G>A	c.(577-579)aaG>aaA	p.K193K	KCNA1_uc021qts.1_Silent_p.K193K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	193					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGAGCTGAAGGATGACAAGG	0.577000														60			7		0	0	1	0	0
mir-34	0	broad.mit.edu	37	1	9211851	9211851	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:9211851G>A	uc009vmq.3	-	1	430	c.324C>T	c.(322-324)tcC>tcT	p.S108S	mir-34_uc021ofw.1_5'Flank					Homo sapiens microRNA mir-34.																		CACGGCATCCGGAGGGGACTC	0.557000														128			15		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696648	150696648	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:150696648G>A	uc003lty.3	-	10	1311	c.1181_splice	c.e10-1	p.C394_splice	SLC36A2_uc003ltz.3_Splice_Site|SLC36A2_uc003lua.3_Splice_Site_p.C196_splice	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	394					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCAGGAGGCCTGCAGGGA	0.602000														35			3		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824910	74824910	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:74824910G>A	uc021rwl.1	+	0	1424	c.1424G>A	c.(1423-1425)tGg>tAg	p.W475*	VRTN_uc001xpw.4_Nonsense_Mutation_p.W475*	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	475					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GTAATTCCTTGGAAGAGTGAG	0.652000														90			8		0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105876359	105876359	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:105876359G>A	uc004emi.4	+	6	1332	c.1181_splice	c.e6-1	p.E394_splice	CXorf57_uc004emj.4_Splice_Site_p.E394_splice|CXorf57_uc004emh.2_Splice_Site_p.E394_splice	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	394				E -> K (in Ref. 3; AAH54032).						NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATCCATATAGAAAACCGTGA	0.303000														32			6		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37153556	37153556	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:37153556T>C	uc002xiw.3	+	10	2012	c.1755T>C	c.(1753-1755)ttT>ttC	p.F585F	RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.3_Silent_p.F585F|RALGAPB_uc002xiy.1_Silent_p.F585F|RALGAPB_uc002xiz.3_Silent_p.F363F|RALGAPB_uc002xja.1_Silent_p.F312F	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	585					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCCTTACTTTATTTCAGCTC	0.433000														146			15		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173178	161173178	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161173178C>T	uc003qtm.4	+	17	2269	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	719	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAAGGAAGCCCAGCTCCCTG	0.468000														42			4		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061578	40061578	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40061578C>T	uc003ayc.3	+	21	3927	c.3927C>T	c.(3925-3927)atC>atT	p.I1309I	CACNA1I_uc003ayd.3_Silent_p.I1274I|CACNA1I_uc003aye.3_Silent_p.I1224I|CACNA1I_uc003ayf.3_Silent_p.I1189I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1309					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)	TCGGCAACATCGTGCTCATCT	0.622000														79			13		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092139	1092139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1092139G>A	uc001lsx.1	+	29	3985	c.3958G>A	c.(3958-3960)Gac>Aac	p.D1320N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1320						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)	TGGCAGCGACGACGGTGACCG	0.592000														39			3		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553242	140553242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140553242G>A	uc003lit.3	+	0	1000	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	276	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)			AAGTAATGGGGAAATAGCCTA	0.458000														114			7		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002119	79002119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:79002119G>A	uc001din.3	+	2	1093	c.827G>A	c.(826-828)gGa>gAa	p.G276E	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	276					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGAATAAATGGAAATCATTCT	0.343000														47			16		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102693	81102693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81102693C>T	uc001szf.2	+	2	774	c.683C>T	c.(682-684)tCg>tTg	p.S228L		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	228					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTATTTCCTCGGAGGAACGC	0.522000														62			8		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258545	86258545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:86258545C>T	uc002sqs.3	-	29	4865	c.4486G>A	c.(4486-4488)Gag>Aag	p.E1496K	POLR1A_uc010ytb.2_Missense_Mutation_p.E862K	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1496					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.P1495P(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCATGGCCTCGGGCCCCTGG	0.652000														165			19		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170834	77170834	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:77170834T>G	uc010xfg.2	+	1	1012	c.559T>G	c.(559-561)Tcc>Gcc	p.S187A	NFATC1_uc002lnc.1_Missense_Mutation_p.S187A|NFATC1_uc010xff.1_Missense_Mutation_p.S187A|NFATC1_uc002lnd.3_Missense_Mutation_p.S187A|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.S187A|NFATC1_uc010xfi.1_Missense_Mutation_p.S174A|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.S174A|NFATC1_uc002lng.3_Missense_Mutation_p.S174A|NFATC1_uc010xfk.2_Missense_Mutation_p.S174A	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	187	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCAGAGGCCTCCTCCTACGA	0.677000														143			13		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913665	28913665	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28913665C>T	uc002kwp.3	+	6	1010	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	266	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGATAATATCCCTTACATGG	0.393000														65			6		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60886789	60886789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60886789G>A	uc009ynk.3	+	4	650	c.547G>A	c.(547-549)Ggt>Agt	p.G183S		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	183	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGCCTGGGGGGTACCATCAG	0.617000														90			10		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773430	141773430	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141773430C>T	uc002tvj.1	-	12	2997	c.2025G>A	c.(2023-2025)agG>agA	p.R675R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	675					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)		CCTTCTCAATCCTTCCCACGC	0.403000										TSP Lung(27;0.18)				79			6		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885663	29885663	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:29885663G>A	uc003afo.3	+	3	2105	c.2034G>A	c.(2032-2034)gaG>gaA	p.E678E	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	684	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTCCCCTGAGAAGGCCAAGT	0.572000														162			16		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829798	72829798	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72829798G>A	uc002fck.3	-	8	7456	c.6783C>T	c.(6781-6783)ttC>ttT	p.F2261F	ZFHX3_uc002fcl.3_Silent_p.F1347F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2261					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CATTGGCATCGAAGAAGTCCT	0.493000														257			24		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823168	38823168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:38823168C>T	uc003avs.1	-	1	1067	c.970G>A	c.(970-972)Gag>Aag	p.E324K	KCNJ4_uc003avt.1_Missense_Mutation_p.E324K|KCNJ4_uc021wpp.1_Missense_Mutation_p.E324K	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	324					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTCTTCTCCTCGAAGACCACA	0.642000														41			5		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52992771	52992771	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52992771C>T	uc001sar.2	-	1	638	c.552G>A	c.(550-552)caG>caA	p.Q184Q	KRT72_uc001saq.2_Silent_p.Q184Q|KRT72_uc010sns.1_Silent_p.Q184Q|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	184	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.L183L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCAGCTGCTTCTGCAGGTTGC	0.542000														235			14		0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94617	94617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:94617G>A	uc001ifi.2	-	2	215	c.215C>T	c.(214-216)aCc>aTc	p.T72I		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	72					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGAGTCCATGGTGCCCGGCTC	0.697000														100			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61815657	61815657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61815657C>T	uc001jky.3	-	41	13162	c.12824G>A	c.(12823-12825)gGa>gAa	p.G4275E	ANK3_uc001jkw.3_Missense_Mutation_p.G899E|ANK3_uc009xpa.3_Missense_Mutation_p.G899E|ANK3_uc001jkx.3_Missense_Mutation_p.G943E|ANK3_uc010qih.2_Missense_Mutation_p.G1766E|ANK3_uc001jkz.4_Missense_Mutation_p.G1759E|ANK3_uc001jkv.3_Missense_Mutation_p.G298E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4275					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						ACTCTGTTTTCCTACATCATT	0.388000														139			12		0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179688771	179688771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:179688771C>T	uc003mls.4	-	4	634	c.363G>A	c.(361-363)atG>atA	p.M121I	MAPK9_uc003mlv.4_Missense_Mutation_p.M121I|MAPK9_uc003mlt.4_Missense_Mutation_p.M121I|MAPK9_uc010jlc.3_Missense_Mutation_p.M121I|MAPK9_uc021yji.1_Missense_Mutation_p.M95I|MAPK9_uc021yjj.1_Missense_Mutation_p.M121I|MAPK9_uc021yjk.1_Missense_Mutation_p.M121I|MAPK9_uc021yjl.1_Missense_Mutation_p.M121I|MAPK9_uc011dgx.2_Missense_Mutation_p.M121I	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	121	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCAGCTCCATGTGAATAA	0.358000														212			22		0	0	1	0	0
KCNE2	9992	broad.mit.edu	37	21	35742925	35742925	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:35742925A>C	uc021wis.1	+	0	148	c.148A>C	c.(148-150)Atc>Ctc	p.I50L	KCNE2_uc002ytt.1_Missense_Mutation_p.I50L	NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 2 (KCNE2), mRNA.	50					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						CTACTATGTCATCCTGTACCT	0.458000														78			9		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23519086	23519086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23519086G>A	uc001wil.3	-	9	1804	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	CDH24_uc010akf.3_Missense_Mutation_p.P477L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	515	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCAGCTGGGGAGCATTGTC	0.582000														71			6		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189140	7189140	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7189140G>A	uc002gfp.3	+	9	1439	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Silent_p.Q403Q	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	413					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCTTCAGCCAGGGACCCCGCC	0.577000														73			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585683	82585683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82585683C>T	uc003uhx.2	-	4	4875	c.4586G>A	c.(4585-4587)cGa>cAa	p.R1529Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1529Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1460					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1460L(1)|p.R1529L(1)		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						ACTAGTTCTTCGTTTTCTTTG	0.398000														23			7		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560431	1560431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1560431G>A	uc001agg.3	+	5	977	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	MIB2_uc001agh.3_Missense_Mutation_p.R297Q|MIB2_uc001agi.3_Missense_Mutation_p.R311Q|MIB2_uc001agj.3_Missense_Mutation_p.R95Q|MIB2_uc001agk.3_Intron|MIB2_uc001agl.2_Missense_Mutation_p.R210Q|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Missense_Mutation_p.R210Q|MIB2_uc009vkh.3_Missense_Mutation_p.R95Q|MIB2_uc001agn.3_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	254					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGACAGGCCGGAGTGTGGCC	0.657000														117			19		0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41931180	41931180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41931180C>T	uc002iem.3	+	3	556	c.487C>T	c.(487-489)Cct>Tct	p.P163S	CD300LG_uc002iel.2_Intron|CD300LG_uc010czk.3_Missense_Mutation_p.P163S|CD300LG_uc010wil.2_Missense_Mutation_p.P129S|CD300LG_uc010czl.3_Intron	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	163						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGTAGCTTCTCCTGGGCTCTA	0.607000														43			5		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979775	12979775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12979775G>A	uc001aup.3	+	3	1050	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	323												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;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)		TCAATTAAAGGAGCTGGACCT	0.577000														179			10		0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58186759	58186759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:58186759C>T	uc003djo.1	-	4	608	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	DNASE1L3_uc011bfd.1_Missense_Mutation_p.V141I|DNASE1L3_uc003djp.1_Missense_Mutation_p.V171I|DNASE1L3_uc003djq.1_Missense_Mutation_p.V171I	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	171					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCGTGTAGACCTCAACCAAC	0.557000														316			22		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098981	144098981	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:144098981C>T	uc022aoj.1	-	2	273	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	91					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTTCCCTTTTCCCAGACACCA	0.458000														69			8		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152847286C>T	uc021zhb.1	-	2	377	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_uc003qot.4_Missense_Mutation_p.D52N|SYNE1_uc003qou.4_Missense_Mutation_p.D52N|SYNE1_uc010kjb.1_Missense_Mutation_p.D52N|SYNE1_uc003qpa.1_Missense_Mutation_p.D52N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	52	Actin-binding.|CH 1.				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)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)				68			5		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23872633	23872633	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23872633C>T	uc001wjv.3	-	9	893	c.822G>A	c.(820-822)gtG>gtA	p.V274V	MYH6_uc010akp.2_Silent_p.V274V	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	274	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTGGAAGATCACCCGGGACT	0.567000														201			14		0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113831782	113831782	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113831782C>T	uc001tvg.3	-	6	815	c.693G>A	c.(691-693)caG>caA	p.Q231Q		NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	231					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTTCAGGGCCTGAGCCCCCA	0.582000														78			8		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915276	48915276	+	Nonsense_Mutation	SNP	G	A	A	rs121912524		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:48915276G>A	uc002rwu.4	-	10	1730	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	554					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R554*(4)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCTGGGTTTCGAACTGCAAAA	0.368000														73			5		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90164656	90164656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:90164656C>T	uc002boe.3	+	18	3187	c.3187C>T	c.(3187-3189)Cgg>Tgg	p.R1063W	C15orf42_uc021sug.1_Missense_Mutation_p.R1062W	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1063					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAAAGTATTCGGTCTCCCAA	0.388000														76			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152579986	152579986	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152579986T>C	uc021vrb.1	-	6	656	c.627A>G	c.(625-627)gaA>gaG	p.E209E	NEB_uc002txu.3_Silent_p.E209E|NEB_uc021vrc.1_Silent_p.E209E|NEB_uc010fnx.3_Silent_p.E209E|NEB_uc021vrd.1_Silent_p.E209E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	209					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.E209*(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCCCAGTCTTCAGTGTACA	0.393000														9			2		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940040	36940040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:36940040G>A	uc010xtf.2	-	4	1234	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	ZNF566_uc002oea.4_Missense_Mutation_p.P366S|ZNF566_uc010xte.2_Missense_Mutation_p.P366S|ZNF566_uc002oeb.4_Missense_Mutation_p.P366S|ZNF566_uc002oec.4_Missense_Mutation_p.P262S|ZNF566_uc010xtg.2_Missense_Mutation_p.P262S	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATTCATAGGGTTTCTCCCCA	0.393000														53			11		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120382599	120382599	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:120382599C>T	uc003vjj.1	+	3	2375	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	470					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTAGCAAATCCGGCTCCAGCT	0.478000														123			9		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070718	197070718	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197070718T>C	uc001gtu.3	-	17	7920	c.7663A>G	c.(7663-7665)Aaa>Gaa	p.K2555E	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.K403E	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2555	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATAGAAGCTTTGTGTTTTTCC	0.338000														26			4		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869720	36869720	+	Silent	SNP	G	A	A	rs147347811	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:36869720G>A	uc002xhy.1	-	2	1085	c.813C>T	c.(811-813)ttC>ttT	p.F271F	KIAA1755_uc002xhz.1_Silent_p.F271F	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	271										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGTCTCCCTCGAAGTCCTGGC	0.582000														130			9		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691242	35691242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35691242C>T	uc003jjo.3	+	10	1739	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	SPEF2_uc003jjq.4_Missense_Mutation_p.S543F|SPEF2_uc003jjp.1_Missense_Mutation_p.S34F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	543					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTGAAAAATCTCTTCCTCCT	0.413000														108			7		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269343	43269343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43269343G>A	uc021yzt.1	+	6	1073	c.974G>A	c.(973-975)gGg>gAg	p.G325E	SLC22A7_uc010jyl.1_Missense_Mutation_p.G326E|SLC22A7_uc003ous.3_Missense_Mutation_p.G323E|SLC22A7_uc003out.3_Missense_Mutation_p.G323E	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G325W(2)|p.A324T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTGGCCGCCGGGGAACGGGTG	0.587000														51			4		0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301865	191301865	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:191301865C>T	uc002urz.2	+	2	1434	c.1110C>T	c.(1108-1110)atC>atT	p.I370I		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	370					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATTACCAGATCGTCTTCATCG	0.517000														35			3		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105378019	105378019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:105378019G>A	uc003dwc.3	-	18	3066	c.2744C>T	c.(2743-2745)cCa>cTa	p.P915L	CBLB_uc003dwa.3_Missense_Mutation_p.P130L|CBLB_uc011bhi.2_Missense_Mutation_p.P893L	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	915	Interaction with SH3KBP1.|Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTGAATTTCTGGTGCAGTCCT	0.458000			Mis S		AML									59			4		0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96354526	96354526	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96354526C>T	uc009xuo.3	+	19	2406	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R	HELLS_uc001kjs.3_Silent_p.R705R|HELLS_uc001kjt.3_Silent_p.R721R|HELLS_uc009xul.3_Silent_p.R623R|HELLS_uc009xum.3_Silent_p.R591R|HELLS_uc009xun.3_Silent_p.R597R|HELLS_uc001kju.3_Silent_p.R360R|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Silent_p.R583R|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	721	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTTATCGCCTTGTTACAG	0.358000														48			4		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043123	74043123	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74043123G>A	uc002sjr.1	+	2	1894	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	591	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGCAGTCAGGGAAAAAAGTCA	0.438000														43			3		0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453161	9453161	+	Missense_Mutation	SNP	G	A	A	rs138021555	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9453161G>A	uc002mle.4	+	5	1633	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.R303Q|ZNF559_uc010xkn.2_Missense_Mutation_p.R337Q|ZNF559_uc021uok.1_Missense_Mutation_p.R345Q|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R345Q(2)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AAACACAGGCGAACTCACACT	0.413000														44			5		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71752379	71752379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:71752379G>A	uc003kce.1	-	2	1562	c.1376C>T	c.(1375-1377)aCc>aTc	p.T459I		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCCAGCAGGGTGAACTCCCG	0.537000														221			25		0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910946	57910946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57910946C>T	uc002qon.3	+	3	1577	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	ZNF548_uc002qom.3_Missense_Mutation_p.R431C|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAATTCTTTCGTTACAACTC	0.463000														66			5		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96110005	96110005	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96110005G>A	uc001kjq.1	-	8	1081	c.993C>T	c.(991-993)tcC>tcT	p.S331S	NOC3L_uc009xuk.1_Silent_p.S116S	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	331						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCCTTTAAGGAAACTACAT	0.378000														129			14		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396104	10396104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10396104C>T	uc003wta.3	+	4	900	c.860C>T	c.(859-861)tCg>tTg	p.S287L	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	287	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATATACACCTCGTTGGTGAAC	0.527000														112			5		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35812603	35812603	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:35812603T>C	uc002xgp.3	+	1	338	c.34T>C	c.(34-36)Ttg>Ctg	p.L12L	RPN2_uc010gfw.2_5'UTR|RPN2_uc002xgq.3_Silent_p.L12L	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	12					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGTCTTCCTGTTGGCCCTGAC	0.522000														125			17		0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24123214	24123214	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24123214C>T	uc009vqo.1	-	7	978	c.768G>A	c.(766-768)agG>agA	p.R256R	GALE_uc001bhv.1_Silent_p.R256R|GALE_uc001bhx.1_Silent_p.R256R|GALE_uc001bhz.1_Silent_p.R182R	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	256					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTTTCAGCTTCCTTAAGGCTG	0.592000														38			5		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81745046	81745046	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:81745046C>T	uc010tvu.2	-	3	807	c.609G>A	c.(607-609)gaG>gaA	p.E203E	STON2_uc001xvk.1_Silent_p.E203E|STON2_uc010tvt.2_5'UTR	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	203					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGGCCTCCATCTCTACTTCTT	0.512000														70			4		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690903	6690903	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6690903G>A	uc001qpo.3	-	30	4757	c.4593C>T	c.(4591-4593)tcC>tcT	p.S1531S	CHD4_uc001qpn.3_Silent_p.S1524S|CHD4_uc001qpp.3_Silent_p.S1556S|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1531					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCCTGGCTGGGACATCTTCT	0.552000														163			7		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752387	247752387	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247752387G>A	uc010pyy.2	+	0	726	c.726G>A	c.(724-726)ggG>ggA	p.G242G		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242W(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			AAGCATTCGGGACCTGCTTCT	0.507000														45			4		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476563	35476563	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35476563C>T	uc001byh.3	-	8	1365	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	ZMYM6_uc001byf.1_Silent_p.P379P|ZMYM6_uc010oht.2_Silent_p.P282P|ZMYM6_uc009vup.3_Silent_p.P185P|ZMYM6_uc009vuq.1_Silent_p.P379P|ZMYM6_uc009vur.1_Silent_p.P185P	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	379					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGAGGAGGGCGGGCTTACAA	0.532000														57			8		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20172021	20172021	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20172021T>C	uc002wru.3	+	14	1662	c.1548T>C	c.(1546-1548)gtT>gtC	p.V516V	C20orf26_uc010zse.2_Silent_p.V496V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	516										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGCTGAAGTTGCAGAACAAA	0.338000														104			12		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134898	45134898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:45134898G>A	uc003com.3	-	5	1633	c.1498C>T	c.(1498-1500)Ccg>Tcg	p.P500S		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	500	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGCCTCCCGGGCAGAAGGAG	0.597000														77			4		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329472	69329472	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:69329472C>T	uc002ars.2	+	7	1334	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.F385F|NOX5_uc002arp.2_Silent_p.F413F|NOX5_uc010bid.2_Silent_p.F396F|NOX5_uc010bie.2_Silent_p.F231F|NOX5_uc002arr.2_Silent_p.F403F|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	431	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCTTGTTTTTCCTGGAGAAGG	0.562000														99			13		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66294177	66294177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66294177G>A	uc001oii.1	+	12	1427	c.1349G>A	c.(1348-1350)aGt>aAt	p.S450N	BBS1_uc001oil.1_Missense_Mutation_p.S284N|BBS1_uc010rpg.1_Missense_Mutation_p.S316N|BBS1_uc001oij.1_Missense_Mutation_p.S413N|BBS1_uc001oik.1_Missense_Mutation_p.S337N|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.S81N	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	413					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GAGGGAGGAAGTGAGGTGGGT	0.572000									Bardet-Biedl syndrome					168			12		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928414	137928414	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:137928414C>T	uc002tva.1	+	5	1536	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.Y402Y	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)		CAATGTGCTACCGATGGCTGG	0.532000														36			3		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172199	95172199	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:95172199C>T	uc003ygh.2	-	12	1676	c.1551_splice	c.e12+1	p.K517_splice	CDH17_uc011lgo.1_Splice_Site_p.K303_splice|CDH17_uc011lgp.1_Splice_Site_p.K517_splice	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	517	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGCTATTTACCTTTTTAATTA	0.383000														58			4		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919217	4919217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4919217G>A	uc001qng.3	+	0	876	c.10G>A	c.(10-12)Gag>Aag	p.E4K	KCNA6_uc021qtr.1_Missense_Mutation_p.E4K	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	4						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CATGAGATCGGAGAAATCCCT	0.736000										HNSCC(72;0.22)				24			4		0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211713	55211713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:55211713G>A	uc002xya.3	+	5	1213	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	TFAP2C_uc010zzi.2_Missense_Mutation_p.E155K	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	324	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTGTGAAGCCGAATTTCCTAG	0.463000														93			13		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451764	19451764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19451764C>T	uc002dgc.4	+	2	1153	c.404C>T	c.(403-405)cCt>cTt	p.P135L	TMC5_uc010vaq.2_Missense_Mutation_p.P135L|TMC5_uc002dgb.4_Missense_Mutation_p.P135L|TMC5_uc010var.2_Missense_Mutation_p.P135L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	135						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAACGAAATCCTGATTTTGCA	0.502000														231			21		0	0	1	0	0
ZNF643	65243	broad.mit.edu	37	1	40928725	40928725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:40928725C>T	uc001cfn.2	+	4	1366	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y	ZNF643_uc001cfl.2_Missense_Mutation_p.H255Y|ZNF643_uc001cfm.2_Missense_Mutation_p.H223Y	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TGTTAGAATTCATACCGGGGA	0.438000														43			3		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7222444	7222444	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7222444G>A	uc002gga.1	-	21	3616	c.3609C>T	c.(3607-3609)ttC>ttT	p.F1203F	GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1201F	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CAGAAGCAGGGAAGTTGAGCC	0.582000														54			8		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211513246	211513246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211513246G>A	uc010fur.3	+	27	3486	c.3404G>A	c.(3403-3405)aGg>aAg	p.R1135K	CPS1_uc002vee.4_Missense_Mutation_p.R1129K|CPS1_uc010fus.3_Missense_Mutation_p.R678K	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1129	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCTTGTTGAGGCCTTCCTAT	0.338000														121			7		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43385538	43385538	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:43385538C>T	uc010ggu.3	-	5	661	c.594_splice	c.e5+1	p.Q198_splice	RIMS4_uc002xms.3_Splice_Site_p.Q197_splice	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	197	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGCCCCTCACCTGGAGGACT	0.587000														320			31		0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32843591	32843591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:32843591G>A	uc001bvi.3	-	7	754	c.707C>T	c.(706-708)cCc>cTc	p.P236L	BSDC1_uc001bvh.4_Missense_Mutation_p.P219L|BSDC1_uc010ohg.2_Missense_Mutation_p.P236L|BSDC1_uc010ohh.2_Missense_Mutation_p.P163L|BSDC1_uc010ohi.2_Missense_Mutation_p.P124L|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.P115L			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	219							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCCCAGCCGGGCTCTTCAGA	0.647000														57			13		0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629807	32629807	+	Missense_Mutation	SNP	C	T	T	rs9273943		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32629807C>T	uc021yvz.1	-	2	680	c.598G>A	c.(598-600)Gga>Aga	p.G200R	HLA-DQB1_uc010juc.2_Missense_Mutation_p.G155R|HLA-DQB1_uc003obw.3_Missense_Mutation_p.G200R|HLA-DQB1_uc011dqd.2_Missense_Mutation_p.G200R|HLA-DQB1_uc011dqe.2_3'UTR	NM_001243961	NP_001230890	P01920	DQB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA.	200	Beta-2.|Ig-like C1-type.		GD -> A (in allele DQB1*03:09).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity	p.R199H(1)		breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGACATCTCCACGCTGGGGA	0.567000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					114			17		0	0	1	0	0
C1orf146	388649	broad.mit.edu	37	1	92707815	92707815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:92707815G>A	uc001doq.3	+	2	185	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	C1orf146_uc010ote.2_Intron	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA.	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		CACAAAGTTCGATATTCAGAT	0.299000														47			7		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36026303	36026303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:36026303G>A	uc021rid.1	+	39	6913	c.6379G>A	c.(6379-6381)Gaa>Aaa	p.E2127K	NBEA_uc021ric.1_Missense_Mutation_p.E2124K|NBEA_uc010abi.3_Missense_Mutation_p.E783K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2127						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)		TGCAGAGACAGAACTTATGCT	0.343000														16			3		0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563860	51563860	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51563860A>G	uc002pvn.3	-	1	112	c.69T>C	c.(67-69)tcT>tcC	p.S23S	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.S23S|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Silent_p.S23S	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	23					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GAACCTTGGAAGACTCCTGGG	0.562000														134			10		0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234173762	234173762	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:234173762T>C	uc002vty.3	+	4	871	c.614T>C	c.(613-615)cTt>cCt	p.L205P	ATG16L1_uc021vyl.1_Missense_Mutation_p.L89P|ATG16L1_uc002vub.3_Missense_Mutation_p.L82P|ATG16L1_uc002vtz.3_Intron|ATG16L1_uc002vud.4_Missense_Mutation_p.L121P|ATG16L1_uc002vua.3_Missense_Mutation_p.L205P|ATG16L1_uc002vtx.2_Intron	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	205					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GCCAATCGGCTTAATGCAGAG	0.458000														84			6		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52521359	52521359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:52521359C>T	uc010bff.3	-	24	3340	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1060						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGGGCCACTTCCGCCTTCAAG	0.522000														156			12		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207109156	207109156	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:207109156C>T	uc001hez.3	-	4	1237	c.1053G>A	c.(1051-1053)acG>acA	p.T351T	PIGR_uc009xbz.3_Silent_p.T351T	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	351	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCGGGGAATCGTGGACTCTG	0.607000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			4		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440137	124440137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124440137G>A	uc010san.2	+	0	173	c.173G>A	c.(172-174)gGg>gAg	p.G58E		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACCATCGTGGGGAACCTGGGC	0.502000														72			8		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180424352	180424352	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:180424352C>T	uc003mmr.3	+	2	721	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	179	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTTCAGACTCCAGAGCAAATG	0.512000														38			4		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55734085	55734085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:55734085C>T	uc021tio.1	+	11	1676	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	SLC6A2_uc002eif.3_Missense_Mutation_p.P542L|SLC6A2_uc002eig.3_Missense_Mutation_p.P542L|SLC6A2_uc002eii.3_Missense_Mutation_p.P437L|SLC6A2_uc002eij.3_Missense_Mutation_p.P256L|SLC6A2_uc021tip.1_Intron	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	542					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AACTTCAAGCCACTCACCTAC	0.542000														113			10		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994604	140994604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:140994604G>A	uc004fbt.3	+	3	1738	c.1414G>A	c.(1414-1416)Ggt>Agt	p.G472S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.G131S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	472							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TACTTTTGAGGGTTTTCCCCA	0.488000										HNSCC(15;0.026)				117			16		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898467	6898467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6898467G>A	uc010rat.2	+	0	612	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTGTGTTTGAACTGGAGGC	0.498000														71			6		0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948778	2948778	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2948778G>A	uc003muk.3	-	5	2880	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SERPINB6_uc003mui.3_Silent_p.F178F|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Silent_p.F295F|SERPINB6_uc003mum.3_Silent_p.F295F|SERPINB6_uc003mun.3_Silent_p.F295F|SERPINB6_uc003muo.3_Silent_p.F295F	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	295					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TGCCCAGCTCGAAGGCATCAG	0.547000														181			26		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508548	44508548	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:44508548C>T	uc002ruc.4	+	2	711	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC3A1_uc002rty.3_Silent_p.F211F|SLC3A1_uc002rtz.2_Silent_p.F211F|SLC3A1_uc002rua.3_Silent_p.F211F|SLC3A1_uc002rub.2_Silent_p.F211F	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	211					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TCATCGATTTCATACCAAACC	0.353000														82			7		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313606	197313606	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:197313606G>A	uc001gtz.3	+	3	1057	c.848_splice	c.e3+1	p.R283_splice	CRB1_uc010poz.2_Splice_Site_p.R214_splice|CRB1_uc001gty.2_Splice_Site_p.R283_splice|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Splice_Site_p.R283_splice|CRB1_uc010ppc.1_Splice_Site	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	283	EGF-like 7; calcium-binding (Potential).				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						GGAGAAAACAGGTACATTTTC	0.483000														110			5		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13368211	13368211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:13368211C>T	uc002mwy.3	-	27	4779	c.4543G>A	c.(4543-4545)Gag>Aag	p.E1515K	CACNA1A_uc002mwx.3_Missense_Mutation_p.E221K|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1041K|CACNA1A_uc010xnd.2_Missense_Mutation_p.E1518K|CACNA1A_uc021ups.1_Missense_Mutation_p.E1515K|CACNA1A_uc010xne.2_Missense_Mutation_p.E1518K|CACNA1A_uc010dze.2_Missense_Mutation_p.E1515K|CACNA1A_uc021upt.1_Missense_Mutation_p.E1516K|CACNA1A_uc002mwv.3_Missense_Mutation_p.E32K	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1516					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCCTTGCTCCTGGAAGGTG	0.453000														57			6		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656745	150656745	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150656745G>A	uc003wic.3	-	2	788	c.387C>T	c.(385-387)ttC>ttT	p.F129F	KCNH2_uc011kux.2_Silent_p.F33F|KCNH2_uc003wie.3_Silent_p.F129F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	129	PAC.				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)	TCACCACCTCGAAATTGAGGA	0.592000														92			7		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922608	37922608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37922608G>A	uc002hsu.3	-	7	1027	c.965C>T	c.(964-966)cCc>cTc	p.P322L	IKZF3_uc002htd.3_Missense_Mutation_p.P288L|IKZF3_uc010cwd.3_Missense_Mutation_p.P179L|IKZF3_uc002hsv.3_Missense_Mutation_p.P249L|IKZF3_uc010cwe.3_Missense_Mutation_p.P188L|IKZF3_uc010cwf.3_Missense_Mutation_p.P140L|IKZF3_uc010cwg.3_Missense_Mutation_p.P101L|IKZF3_uc002hsw.3_Missense_Mutation_p.P283L|IKZF3_uc002hsx.3_Missense_Mutation_p.P266L|IKZF3_uc002hsy.3_Missense_Mutation_p.P283L|IKZF3_uc002hsz.3_Missense_Mutation_p.P227L|IKZF3_uc002hta.3_Missense_Mutation_p.P244L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.P235L|IKZF3_uc002htc.3_Missense_Mutation_p.P75L|IKZF3_uc010wel.2_Missense_Mutation_p.P75L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	322					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGACCAAGGGGCGCAGGGC	0.557000														57			5		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173485	54173485	+	Missense_Mutation	SNP	G	A	A	rs147898099		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:54173485G>A	uc003pcj.2	+	0	283	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	TINAG_uc003pci.3_Missense_Mutation_p.R46Q|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	46					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)			CAAGGTACTCGATTCAAAAGA	0.428000														81			14		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50492968	50492968	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:50492968A>G	uc002prg.2	-	10	1122	c.1024T>C	c.(1024-1026)Tac>Cac	p.Y342H	VRK3_uc002prh.1_Missense_Mutation_p.Y342H|VRK3_uc002pri.1_Missense_Mutation_p.Y292H|VRK3_uc010ens.2_Missense_Mutation_p.Y342H|VRK3_uc010ybl.1_Missense_Mutation_p.Y292H|VRK3_uc010ybm.1_Missense_Mutation_p.Y111H|VRK3_uc002prk.2_Missense_Mutation_p.Y342H|VRK3_uc010ent.2_Missense_Mutation_p.Y98H|VRK3_uc002prl.3_Missense_Mutation_p.Y342H|VRK3_uc010ybn.1_3'UTR	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	342	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CCTTCCACGTAGGCCACGTGT	0.577000														34			8		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:34149264C>T	uc004ddg.3	-	0	1184	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	378								p.E378*(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637000														38			10		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3846815	3846815	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3846815G>A	uc002fwy.2	-	11	1461	c.1288_splice	c.e11-1	p.A430_splice	ATP2A3_uc002fwz.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxa.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxb.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxc.2_Splice_Site_p.A430_splice|ATP2A3_uc002fxd.2_Splice_Site_p.A430_splice|ATP2A3_uc002fwx.2_Splice_Site_p.A430_splice	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	430					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CACACCCTTGGCCTGGCAAGG	0.627000														195			22		0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27353428	27353428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27353428C>T	uc002rit.3	+	8	1194	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	345						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCAACACTCCCCCTACGTT	0.627000														206			38		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772473	4772473	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:4772473C>T	uc001alm.1	+	1	924	c.543C>T	c.(541-543)atC>atT	p.I181I	AJAP1_uc001aln.3_Silent_p.I181I	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	181	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGAGTTCATCGCCTGGGGGC	0.647000														12			4		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125132	71125132	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:71125132C>T	uc002ass.3	-	2	806	c.735G>A	c.(733-735)agG>agA	p.R245R		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	245					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTGCTGATCCTCCGGATGT	0.562000														29			3		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129747256	129747256	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:129747256G>A	uc001qfg.3	-	13	1732	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	NFRKB_uc001qfi.3_Silent_p.P512P|NFRKB_uc001qfh.3_Silent_p.P535P|NFRKB_uc010sbw.1_Silent_p.P522P|NFRKB_uc009zcr.3_5'Flank	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	512					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCCCCGTGCTGGGACGCACCA	0.512000														214			21		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040114	31040114	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:31040114C>T	uc002nsu.1	+	3	3726	c.3588C>T	c.(3586-3588)gcC>gcT	p.A1196A	ZNF536_uc010edd.1_Silent_p.A1196A	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACTGTCTGCCCTCAGCAAAG	0.587000														93			9		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117303215	117303215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117303215G>A	uc001egu.4	+	2	603	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	CD2_uc010owz.1_Missense_Mutation_p.V192I|CD2_uc010oxa.1_Intron	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	192	Ig-like C2-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGGGAACAAAGTCAGCAAGGA	0.527000														70			11		0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21799382	21799382	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:21799382G>A	uc001ber.3	+	5	1058	c.708G>A	c.(706-708)gaG>gaA	p.E236E	NBPF3_uc001bes.3_Silent_p.E180E|NBPF3_uc009vqb.3_Silent_p.E236E|NBPF3_uc010odm.2_Silent_p.E166E	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	236	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAGGCTGAGAAAGTACAGG	0.423000														73			10		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420634	105420634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105420634C>T	uc010axc.1	-	6	1274	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.R285Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	385						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)			CATCACTTCTCGATCCTGTTC	0.632000														160			22		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891416	44891416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:44891416G>A	uc010xxa.2	-	3	1055	c.1012C>T	c.(1012-1014)Ctt>Ttt	p.L338F	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.L331F	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TGGTTGTGAAGGGAAGAGCTG	0.478000														72			4		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130953884	130953884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:130953884C>T	uc002tqv.3	-	1	165	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	22					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGTACAGTTCCCAGCAGGCA	0.512000														237			12		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55447703	55447703	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55447703G>A	uc002qih.4	-	5	2302	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	742							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)		GTTCCCACTCGATGTGCCCTG	0.552000														42			3		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389765	150389765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150389765G>A	uc003who.3	+	2	479	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	131						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGGTGAAGGAGATCTTTGG	0.552000														69			4		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023626	28023626	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28023626T>A	uc001ity.4	-	4	822	c.597A>T	c.(595-597)aaA>aaT	p.K199N	MKX_uc001itx.4_Missense_Mutation_p.K199N	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	199					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCACTCCCGCTTTGATGACCG	0.488000														111			14		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169085350	169085350	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:169085350G>A	uc003irm.3	+	5	474	c.310_splice	c.e5-1	p.G104_splice	ANXA10_uc003irn.3_5'Flank	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	104							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TTTCTCTAGGGAGTAGGCACT	0.363000														37			3		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141721516	141721516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141721516G>A	uc003vwy.3	+	5	743	c.689G>A	c.(688-690)aGa>aAa	p.R230K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	230	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAAGTGACCAGAAGAAGCAAC	0.458000														75			14		0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261190	49261190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49261190C>T	uc002pkn.1	+	3	915	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.H115Y	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	115					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCCCTAGCTCCACTTTGACCC	0.597000														419			30		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916227	131916227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:131916227C>T	uc003ytd.4	-	6	1958	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S	ADCY8_uc010mds.3_Missense_Mutation_p.G568S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	568					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTACCATGGCCCTCTTCCACG	0.453000										HNSCC(32;0.087)				152			10		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21226084	21226084	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21226084C>T	uc002red.3	-	28	12338	c.12210G>A	c.(12208-12210)ctG>ctA	p.L4070L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4070					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGTTGTCTTTCAGAGAGGTTA	0.478000														152			7		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112319689	112319689	+	Silent	SNP	C	T	T	rs148478583		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:112319689C>T	uc001ebu.1	-	6	2205	c.1725G>A	c.(1723-1725)acG>acA	p.T575T	KCND3_uc001ebv.1_Silent_p.T556T	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	575						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGATGTGGATCGTGCTGAGCT	0.567000														47			7		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862722	23862722	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23862722C>T	uc001wjv.3	-	22	3005	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	978					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGTTAGGTTCTTCACCTGCC	0.532000														274			23		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4833743	4833743	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:4833743G>A	uc002cxq.3	-	5	801	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SEPT12_uc002cxr.3_Silent_p.F133F|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	179					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCCGCTGCAGGAACTCAATGT	0.657000														54			10		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203842	2203843	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:2203842_2203843GG>AA	uc002fub.1	-	1	259_260	c.204_205CC>TT	c.(202-207)ccccct>ccTTct	p.P69S	SMG6_uc002fud.2_Missense_Mutation_p.P38S	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	69					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCACTCCCAGGGGGTTCCTTGA	0.470000														122			9		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276763	152276763	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152276763C>T	uc001ezu.1	-	2	10635	c.10599G>A	c.(10597-10599)agG>agA	p.R3533R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3533	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCTGGTTCCTGCTTGTCC	0.577000									Ichthyosis					239			20		0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269359	37269359	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:37269359C>T	uc001uvt.4	+	1	590	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SERTM1_uc021rii.1_Silent_p.F48F	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	48						integral to membrane											TGTCCATATTCCTCAGCCTTT	0.478000														111			5		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54025313	54025313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54025313C>T	uc002acj.2	-	1	76	c.34G>A	c.(34-36)Gga>Aga	p.G12R	WDR72_uc010bfi.1_Missense_Mutation_p.G12R	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	12										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCCTTCTGTCCCCAGAGTGCC	0.502000														69			11		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139732	142139732	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142139732G>A	uc003vyt.3	-	0	84	c.39C>T	c.(37-39)ttC>ttT	p.F13F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTCCCTAGGAAACCCAGGA	0.532000														80			9		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994241	91994241	+	Missense_Mutation	SNP	G	A	A	rs148535806		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:91994241G>A	uc004aqo.1	-	17	2539	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.P656L	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	656					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGACAAGGTGGGGGCCACTAC	0.567000														265			25		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542622	126542622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126542622C>T	uc003vlr.2	-	4	1441	c.1130G>A	c.(1129-1131)aGg>aAg	p.R377K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R377K|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R98K	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	377					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGACTGTTCCTTTTCCCATG	0.358000										HNSCC(24;0.065)				71			7		0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32740822	32740822	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:32740822C>T	uc001iwj.3	+	1	822	c.252C>T	c.(250-252)atC>atT	p.I84I	CCDC7_uc009xlu.2_Non-coding_Transcript|CCDC7_uc001iwk.3_Silent_p.I84I|CCDC7_uc009xlv.3_Non-coding_Transcript|CCDC7_uc009xly.1_Non-coding_Transcript|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Silent_p.I84I	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	84										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGAAATGATCGGAAAAATTA	0.438000														25			5		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53360117	53360117	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:53360117G>A	uc001xac.3	-	3	606	c.420C>T	c.(418-420)ctC>ctT	p.L140L	FERMT2_uc001xad.3_Silent_p.L140L|FERMT2_uc001xae.3_Silent_p.L140L|FERMT2_uc001xaf.3_Silent_p.L140L	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	140					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GTTTCTTTAAGAGAGAAAGTT	0.343000														62			5		0	0	1	0	0
ZNF238	10472	broad.mit.edu	37	1	244218280	244218280	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:244218280T>C	uc001iad.4	+	1	1377	c.1204T>C	c.(1204-1206)Ttc>Ctc	p.F402L	ZNF238_uc001iae.3_Missense_Mutation_p.F393L|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	393	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GAGCACGCACTTCCGCGAGCA	0.622000														68			11		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192414	179192414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:179192414C>T	uc003mkm.3	+	1	666	c.403C>T	c.(403-405)Cct>Tct	p.P135S	MAML1_uc003mkn.1_Missense_Mutation_p.P135S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	135					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCTCTTTCCTGGGCATAA	0.542000														67			4		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21444710	21444710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:21444710G>A	uc004czx.2	+	1	640	c.160G>A	c.(160-162)Gat>Aat	p.D54N	CNKSR2_uc004czw.3_Missense_Mutation_p.D54N|CNKSR2_uc011mjn.2_Missense_Mutation_p.D54N|CNKSR2_uc011mjo.2_Missense_Mutation_p.D54N	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	54	SAM.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGAGCTAGAAGATCTGGGGGT	0.478000														28			9		0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35295497	35295497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:35295497G>A	uc002hnh.2	+	0	726	c.3G>A	c.(1-3)atG>atA	p.M1I	BC084573_uc002hng.1_5'Flank|LHX1_uc010cux.1_5'Flank	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	1					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CAAAGACCATGGTTCACTGTG	0.572000														85			8		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509621	23509621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:23509621G>A	uc003jgo.3	+	2	294	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	38	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTCACCAAGGAAGAATGGGC	0.418000										HNSCC(3;0.000094)				183			20		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043129	46043129	+	Missense_Mutation	SNP	C	T	T	rs75184362		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:46043129C>T	uc003gxb.3	-	8	1426	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	425					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T424K(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCTCCAAGATCCTGTTCTGCA	0.408000														56			7		0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52785427	52785427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52785427C>T	uc002pyt.1	+	2	504	c.127C>T	c.(127-129)Cct>Tct	p.P43S	ZNF766_uc002pyr.1_Missense_Mutation_p.P28S|ZNF766_uc002pys.1_Missense_Mutation_p.P28S	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ATGCCTGGACCCTGTGCAGAA	0.493000														256			14		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113237016	113237016	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113237016A>T	uc003ynu.3	-	70	11267	c.11108T>A	c.(11107-11109)gTt>gAt	p.V3703D	CSMD3_uc003yns.3_Missense_Mutation_p.V2905D|CSMD3_uc003ynt.3_Missense_Mutation_p.V3663D|CSMD3_uc011lhx.2_Missense_Mutation_p.V3534D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3703						integral to membrane|plasma membrane		p.T3702T(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						CATTGTGCAAACCGTGTTCAA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				171			22		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41223222	41223222	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41223222A>G	uc002icq.3	-	14	4941	c.4709T>C	c.(4708-4710)cTc>cCc	p.L1570P	BRCA1_uc010whp.2_Missense_Mutation_p.L419P|BRCA1_uc010whl.2_Missense_Mutation_p.L466P|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.L1499P|BRCA1_uc002icu.3_Missense_Mutation_p.L466P|BRCA1_uc010cyx.3_Missense_Mutation_p.L1523P|BRCA1_uc002ict.3_Missense_Mutation_p.L1591P|BRCA1_uc010whn.2_Missense_Mutation_p.L61P|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.L299P|BRCA1_uc002idc.1_Missense_Mutation_p.L466P|BRCA1_uc010whr.1_Missense_Mutation_p.L420P	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1570					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATCAGAGAAGAGGCTGATTCC	0.453000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				131			5		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1057927	1057927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:1057927C>T	uc002lqw.4	+	35	5125	c.4894C>T	c.(4894-4896)Ccg>Tcg	p.P1632S	ABCA7_uc002lqy.3_Intron|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1632					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGATCACACCGCTCATGTA	0.507000														169			11		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153930	5153930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:5153930G>A	uc001qni.3	+	0	846	c.617G>A	c.(616-618)gGg>gAg	p.G206E		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	206						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TACCAGCTGGGGGACGAGGCC	0.627000														52			6		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162804210	162804210	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:162804210C>T	uc002ubx.4	+	16	2422	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	SLC4A10_uc010zcs.2_Silent_p.F727F|SLC4A10_uc002uby.4_Silent_p.F716F	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	746					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAAGCAGTTCAAGACTAGCA	0.383000														110			15		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25000604	25000604	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:25000604C>T	uc001upl.3	-	33	5085	c.4979_splice	c.e33+1	p.R1660_splice		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1660	Interaction with the major vault protein.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTAAAGCCACCTGGAAATAGA	0.333000														57			7		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547240	43547240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43547240G>A	uc002zag.1	+	17	3802	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	UMODL1_uc002zad.1_Missense_Mutation_p.E1068K|UMODL1_uc002zae.1_Missense_Mutation_p.E1196K|UMODL1_uc002zaf.1_Missense_Mutation_p.E1140K|UMODL1_uc002zal.1_Missense_Mutation_p.E90K|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1140						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGTCAGGATCGAAGTGGGGCT	0.547000														103			9		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006260	74006260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74006260G>A	uc010wss.1	-	21	3320	c.3092C>T	c.(3091-3093)aCc>aTc	p.T1031I	EVPL_uc002jqi.2_Missense_Mutation_p.T1009I|EVPL_uc010wst.1_Missense_Mutation_p.T479I	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1009	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCTGCATGGTCTTCCTCTT	0.657000														88			10		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24918042	24918042	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24918042G>A	uc002dmu.3	+	10	1302	c.1071G>A	c.(1069-1071)tcG>tcA	p.S357S	SLC5A11_uc002dms.3_Silent_p.S293S|SLC5A11_uc010vcd.2_Silent_p.S322S|SLC5A11_uc002dmt.3_Missense_Mutation_p.G225R|SLC5A11_uc010vce.2_Silent_p.S287S|SLC5A11_uc010bxt.3_Silent_p.S293S|SLC5A11_uc002dmv.3_5'Flank	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	357					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CAGGCTGTTCGGACATCGCGT	0.552000											OREG0023688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			9		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524916	112524916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:112524916C>T	uc001ebu.1	-	1	913	c.433G>A	c.(433-435)Gag>Aag	p.E145K	KCND3_uc001ebv.1_Missense_Mutation_p.E145K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	145						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGAGCCGCTCGGCGTTCTCC	0.627000														57			4		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51880872	51880872	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:51880872C>T	uc010xdt.2	-	0	72	c.72G>A	c.(70-72)tgG>tgA	p.W24*		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	24	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TAACCACTTTCCAGCCTGATG	0.294000														87			6		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79301097	79301097	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:79301097G>A	uc003hlb.2	+	26	3950	c.3510G>A	c.(3508-3510)tgG>tgA	p.W1170*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.W1170*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1169					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						GTTTTAGCTGGAAAGATGTGA	0.453000														70			7		0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647607	79647607	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:79647607G>A	uc010jaj.1	-	0		c.179C>T								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		AAGTTGTCCTGGAAGTGCGCA	0.562000														159			6		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21519301	21519301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21519301C>T	uc002kuq.3	+	67	9063	c.8977C>T	c.(8977-8979)Ccc>Tcc	p.P2993S	LAMA3_uc002kur.3_Missense_Mutation_p.P2937S|LAMA3_uc002kus.4_Missense_Mutation_p.P1384S|LAMA3_uc002kut.4_Missense_Mutation_p.P1328S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2993	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGGACATTCCCACCAGCCA	0.557000														280			20		0	0	1	0	0
TAC1	6863	broad.mit.edu	37	7	97363571	97363571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:97363571G>A	uc003uop.4	+	3	478	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TAC1_uc003uoq.4_Missense_Mutation_p.E78K|TAC1_uc003uor.4_Intron|TAC1_uc003uos.4_Intron	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	78					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TTCCTCAATTGAAAAACAAGT	0.343000														44			3		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691340	49691340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49691340G>A	uc003cxe.4	+	4	4465	c.4351G>A	c.(4351-4353)Gag>Aag	p.E1451K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1451					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCTAGAGAGAAGCCCTT	0.597000														120			15		0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54040124	54040124	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:54040124A>T	uc002rxl.3	+	10	1420	c.1140A>T	c.(1138-1140)acA>acT	p.T380T	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Silent_p.T380T|ERLEC1_uc002rxn.3_Silent_p.T326T	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	380	PRKCSH 2.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TTGTCGGGACATGGAACCAAG	0.393000														69			4		0	0	1	0	0
SPC25	57405	broad.mit.edu	37	2	169727952	169727952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169727952C>T	uc002uel.3	-	6	795	c.664G>A	c.(664-666)Gtt>Att	p.V222I		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	222	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TAATTATAAACCGTGGCAGTA	0.303000														72			11		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215814029	215814029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:215814029C>T	uc001hku.1	-	67	15226	c.14839G>A	c.(14839-14841)Gtg>Atg	p.V4947M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4947	Fibronectin type-III 35.				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)		TTCACACACACCACAGACAAA	0.532000										HNSCC(13;0.011)				92			6		0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645922	19645922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19645922G>A	uc002nmt.2	+	3	470	c.398G>A	c.(397-399)gGg>gAg	p.G133E	YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.G132E|YJEFN3_uc010ecf.2_Missense_Mutation_p.G83E|YJEFN3_uc002nmu.2_Non-coding_Transcript	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133	YjeF N-terminal.							p.G133W(1)		NS(1)|breast(1)|lung(3)	5						GGGGCAGTGGGGCTGGTCTGT	0.627000														150			16		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124417957	124417957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:124417957C>T	uc001uft.4	+	75	13047	c.13022C>T	c.(13021-13023)gCc>gTc	p.A4341V	DNAH10_uc001ufu.4_Missense_Mutation_p.A254V	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4341					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGTGCAGGCCACCTGCCGG	0.612000														49			4		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43277234	43277234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:43277234C>T	uc003jno.3	+	2	1249	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	123	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CGAGAAATCTCCAGCATGGAA	0.483000														59			3		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558604	140558604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140558604G>A	uc011dai.2	+	0	1234	c.989G>A	c.(988-990)gGa>gAa	p.G330E	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	330	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTTTCTGGAAAATGCACC	0.428000														634			15		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872707	54872707	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54872707C>T	uc002qfk.1	-	2	490	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LAIR1_uc002qfl.1_Silent_p.L60L|LAIR1_uc002qfm.1_Silent_p.L59L|LAIR1_uc002qfn.1_Silent_p.L59L|LAIR1_uc010yex.2_Silent_p.L53L|LAIR1_uc002qfo.3_Silent_p.L42L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	60	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTCCCTCTCCAGGCGGAATG	0.557000														181			31		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83781589	83781589	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:83781589C>T	uc002bjp.3	+	1	242	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	TM6SF1_uc010bmq.3_Silent_p.L45L|TM6SF1_uc002bjq.3_Silent_p.L45L|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	45						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CATCCTGTTCCTGGTAGCACT	0.493000														141			17		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831831	32831831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32831831G>A	uc003amn.2	-	7	784	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	BPIFC_uc010gwo.2_Missense_Mutation_p.P76S|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	262						extracellular region	lipopolysaccharide binding|phospholipid binding										GGTGAGAAGGGGGGGTCGGTG	0.458000														85			11		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112896	59112896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:59112896C>T	uc001xdw.3	+	3	1719	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	DACT1_uc010trv.2_Missense_Mutation_p.P238S|DACT1_uc001xdx.3_Missense_Mutation_p.P482S|DACT1_uc010trw.2_Missense_Mutation_p.P238S	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	519					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCAGGGCGTCCCCCCGGCCAC	0.587000														135			10		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702772	202702772	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:202702772C>T	uc009xag.3	-	23	3890	c.3774G>A	c.(3772-3774)cgG>cgA	p.R1258R	KDM5B_uc001gyf.3_Silent_p.R1222R|KDM5B_uc001gyg.1_Silent_p.R1064R	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1222					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTCTGACCTCCGACAATGGG	0.517000														35			5		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140952542	140952542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140952542G>A	uc004cog.3	+	27	4293	c.4148G>A	c.(4147-4149)gGt>gAt	p.G1383D	CACNA1B_uc022bqn.1_Missense_Mutation_p.G1383D|CACNA1B_uc011mfd.2_Missense_Mutation_p.G984D|CACNA1B_uc004coi.3_Missense_Mutation_p.G597D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1383					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)	GAGGAGCAGGGTCCAAGCCCT	0.532000														69			5		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627199	29627199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29627199G>A	uc003nnf.3	+	1	421	c.192G>A	c.(190-192)atG>atA	p.M64I	MOG_uc003qzk.2_Missense_Mutation_p.M64I|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.M64I|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Intron|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.M64I|MOG_uc003nng.3_Missense_Mutation_p.M64I|MOG_uc003nni.3_Missense_Mutation_p.M64I|MOG_uc003nnh.3_Missense_Mutation_p.M64I|MOG_uc003nnj.3_Missense_Mutation_p.M64I|MOG_uc003nnk.3_Missense_Mutation_p.M64I	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	64	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTACAGGCATGGAGGTGGGGT	0.562000														157			13		0	0	1	0	0
NT5C3L	115024	broad.mit.edu	37	17	39985089	39985089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39985089G>A	uc021txo.1	-	6	598	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	NT5C3L_uc021txn.1_Missense_Mutation_p.H166Y|NT5C3L_uc002hxy.4_Missense_Mutation_p.H166Y	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	174						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		ATGTTGGGGTGGAACACTTTC	0.463000														192			8		0	0	1	0	0
IFITM5	387733	broad.mit.edu	37	11	298561	298561	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:298561C>T	uc001low.1	-	1	375	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA.	113					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTTGGCCAGCCGGGCCAGGT	0.632000														36			3		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105397281	105397281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:105397281G>A	uc003dwc.3	-	16	2885	c.2563C>T	c.(2563-2565)Cct>Tct	p.P855S	CBLB_uc003dwa.3_Missense_Mutation_p.P70S|CBLB_uc011bhi.2_Missense_Mutation_p.P833S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	855	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTACCTGAAGGAAGAAGAAAA	0.423000			Mis S		AML									46			8		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64208791	64208791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:64208791C>T	uc002scq.3	-	2	530	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	VPS54_uc002scp.3_Missense_Mutation_p.E111K	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	123					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGAGAGATTTCCTGTTGATAT	0.348000														115			11		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005547	25005547	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:25005547G>A	uc003grf.2	-	7	1263	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	388						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGCTGGACAGGATGAGATGCG	0.502000														102			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308470	140308470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140308470C>T	uc003lih.2	+	0	2169	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S	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_uc003lig.1_Missense_Mutation_p.P665S	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	689	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)			TCAGTTACTTCCAGACTTTGA	0.502000														120			7		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33068912	33068912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:33068912C>T	uc010geu.1	+	20	2309	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	ITCH_uc002xak.2_Missense_Mutation_p.S665F|ITCH_uc010zuj.1_Missense_Mutation_p.S555F	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	706	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATGTACTTCTCCGTTGACAAA	0.318000														94			12		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120911337	120911337	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:120911337G>A	uc003vjq.4	+	22	3169	c.2722_splice	c.e22-1	p.S908_splice		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	908						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TTTCCAATCAGAGTGAAGTAC	0.318000														27			3		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578672	24578672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24578672C>T	uc002dmh.3	+	14	2838	c.1798C>T	c.(1798-1800)Cct>Tct	p.P600S	RBBP6_uc010vcb.1_Missense_Mutation_p.P467S|RBBP6_uc002dmi.3_Missense_Mutation_p.P600S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P467S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	600					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTATAGTGTCCCTCCTCCAGG	0.547000														348			29		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231409	7231409	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:7231409G>A	uc010wzk.2	+	0	273	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	91										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCGAGGTGGGGAAACTGACCC	0.577000														64			4		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61306888	61306888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61306888C>T	uc002ljf.3	-	5	678	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SERPINB3_uc002lje.3_Missense_Mutation_p.E198K|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	198					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E197Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CAAAATTTTTCCTCTTTAGTG	0.308000														23			3		0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46202120	46202120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:46202120C>T	uc010xxr.2	+	4	1069	c.848C>T	c.(847-849)cCt>cTt	p.P283L	QPCTL_uc010ekn.3_Missense_Mutation_p.P189L	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA.	283					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGCCACTTCCCTCGCACGGTC	0.622000														140			19		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97045402	97045402	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:97045402C>T	uc021rcc.1	+	2	262	c.184C>T	c.(184-186)Cag>Tag	p.Q62*				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	62										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						GACTCTGCTTCAGAACTGCTG	0.393000														113			9		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951218	119951218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:119951218G>A	uc010inb.3	+	3	1484	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	SYNPO2_uc010ina.3_Missense_Mutation_p.E430K|SYNPO2_uc003icm.4_Missense_Mutation_p.E430K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E358K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	430						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGTGACAAGGAGGATACATG	0.493000														89			6		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9789031	9789031	+	Nonstop_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9789031T>C	uc003bse.3	+	13	4042	c.3643T>C	c.(3643-3645)Tga>Cga	p.*1215R	BRPF1_uc003bsf.3_Nonstop_Mutation_p.*1221R|BRPF1_uc003bsg.3_Nonstop_Mutation_p.*1214R|BRPF1_uc011ati.2_Nonstop_Mutation_p.*1120R|OGG1_uc003bsj.3_5'Flank|OGG1_uc003bsi.3_5'Flank|OGG1_uc003bsh.3_5'Flank|OGG1_uc003bsl.3_5'Flank|OGG1_uc003bsk.3_5'Flank|OGG1_uc003bsm.3_5'Flank|OGG1_uc003bsn.3_5'Flank|OGG1_uc003bso.3_5'Flank	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	0					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGATAGTGATTGATACTGCTC	0.562000														123			15		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117120199	117120199	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:117120199C>T	uc003vjd.3	+	0	183	c.51C>T	c.(49-51)ttC>ttT	p.F17F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	17					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACTTTTTTTCAGGTGAGAAG	0.567000									Cystic Fibrosis					78			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976784	8976784	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8976784C>T	uc002mkp.3	-	72	42486	c.42282G>A	c.(42280-42282)aaG>aaA	p.K14094K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.K894K|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14125				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCTGAGCCCTTGCCCATAT	0.572000														51			6		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118581976	118581976	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:118581976C>T	uc001ehk.2	-	22	3326	c.3258G>A	c.(3256-3258)gaG>gaA	p.E1086E		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1086						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATCCCCTTTCTCTTCCTTTT	0.373000														30			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13786343	13786343	+	Missense_Mutation	SNP	C	T	T	rs148539877	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13786343C>T	uc003jfd.2	-	51	8807	c.8765G>A	c.(8764-8766)cGt>cAt	p.R2922H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2922	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2922H(2)		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)					GCCGGCGCCACGGATGCTCTC	0.458000									Kartagener syndrome					30			3		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891890	132891890	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:132891890T>C	uc011eck.2	+	0	430	c.430T>C	c.(430-432)Ttc>Ctc	p.F144L		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	144						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCCTACCAAGTTCACCGTATC	0.498000														248			22		0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817416	4817416	+	Missense_Mutation	SNP	G	A	A	rs139641703		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:4817416G>A	uc002mbi.3	-	1	1225	c.974C>T	c.(973-975)cCc>cTc	p.P325L	TICAM1_uc021unj.1_Missense_Mutation_p.P325L	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	325	Pro-rich.				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	p.P325P(1)		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)		GACAGAGCAGGGGTTTTTGAC	0.572000														53			8		0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435545	7435545	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:7435545G>A	uc011bwj.2	-	0	1156	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	354	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TCTCTGGGGTGATTTTGGCCA	0.602000														218			8		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992363	39992363	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:39992363C>T	uc002xjy.1	-	2	653	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	143						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCTCAGGCTCCAGCTGGGGTG	0.652000														116			9		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269385	28269385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:28269385C>T	uc003nky.3	+	6	2174	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	PGBD1_uc003nkz.3_Missense_Mutation_p.P585L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	585					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						TGGTTTGAACCCTATCAAGAA	0.398000														69			10		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71008183	71008183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:71008183G>A	uc002ezr.3	-	32	5078	c.4927C>T	c.(4927-4929)Cgt>Tgt	p.R1643C		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1644								p.R1643C(1)|p.R1595C(1)		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)				TTCTTTACACGATCTAGCTCA	0.428000														11			3		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973939	120973939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120973939G>A	uc003eec.4	+	15	1779	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	STXBP5L_uc011bji.2_Missense_Mutation_p.E547K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	547					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)		CAGCAGACATGAAATTACAAC	0.308000														38			3		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823314	14823314	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:14823314G>A	uc003zlm.3	-	13	2997	c.2181C>T	c.(2179-2181)aaC>aaT	p.N727N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	727					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTCATATAGTTCACAGCAT	0.443000														190			26		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691110	121691110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:121691110G>A	uc001tzv.3	-	9	1902	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	CAMKK2_uc001tzt.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzu.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzw.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzx.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzy.3_Missense_Mutation_p.S358L|CAMKK2_uc001tzz.1_Missense_Mutation_p.S145L|CAMKK2_uc001uaa.1_Missense_Mutation_p.S358L|CAMKK2_uc001uab.3_Missense_Mutation_p.S358L|CAMKK2_uc001uac.3_Missense_Mutation_p.S358L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	358	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGAGAGCGACTCGGGTGC	0.562000														78			5		0	0	1	0	0
OSTalpha	200931	broad.mit.edu	37	3	195955082	195955082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:195955082G>A	uc003fwd.3	+	4	660	c.459G>A	c.(457-459)atG>atA	p.M153I	OSTalpha_uc010iac.1_Missense_Mutation_p.M37I|OSTalpha_uc003fwe.3_Missense_Mutation_p.M20I	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	153						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		ACACCCCGATGATGGTCCACA	0.647000														223			17		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539750	62539750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:62539750C>T	uc002ajj.1	-	2	228	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	FLJ38723_uc002ain.1_Intron|DQ590682_uc002ajw.3_Non-coding_Transcript|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank|DQ592483_uc021soi.1_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		TGTGCCCGTTCGTCTGTGGGC	0.562000														38			5		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8051084	8051084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:8051084C>T	uc010qbd.2	+	4	2359	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	787	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAAGCCGGCGCCCTCGCAGAA	0.662000														117			8		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487693	131487693	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131487693C>T	uc002trv.2	+	0	1051	c.969C>T	c.(967-969)cgC>cgT	p.R323R		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	323						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACCTGCTCCGCTACCGGCAGC	0.567000														59			8		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232789	100232789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100232789C>T	uc003hus.4	-	6	937	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADH1B_uc003hut.4_Missense_Mutation_p.E245K|ADH1B_uc011ceh.2_Missense_Mutation_p.E130K|ADH1B_uc011cei.1_Missense_Mutation_p.E245K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	285					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			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)	CCACATGCCTCATGACAACAT	0.473000														138			11		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684051	6684051	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6684051C>T	uc010vtg.2	+	1	984	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	288										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGAACTTCTTCTTTGAACGGA	0.537000														44			3		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56408980	56408980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56408980C>T	uc001njb.1	-	0	936	c.936G>A	c.(934-936)tgG>tgA	p.W312*	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGATGTGTTTCCATAAGATCT	0.328000														74			4		0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547999	100547999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:100547999G>A	uc004ehb.3	-	0	61	c.35C>T	c.(34-36)tCa>tTa	p.S12L	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	12					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATCATTTTCTGAAGAAATGGG	0.498000														240			42		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807513	66807513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66807513G>A	uc009yrl.3	+	3	690	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	SYT12_uc001oju.3_Missense_Mutation_p.G154S	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	154						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTTCACACTGGGCCAGGTGGA	0.642000														102			9		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988271	134988271	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:134988271G>A	uc004ezh.3	+	5	710	c.543G>A	c.(541-543)ggG>ggA	p.G181G	SAGE1_uc010nry.1_Silent_p.G150G|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	181										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTCCCACAGGGCTTATTAATA	0.433000														63			15		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004519	248004519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248004519C>T	uc001idn.1	-	0	680	c.680G>A	c.(679-681)aGa>aAa	p.R227K		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAAGGGATTCTCAATATGGA	0.493000														57			3		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264346	25264346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:25264346G>A	uc002dod.4	-	2	1006	c.599C>T	c.(598-600)cCc>cTc	p.P200L	ZKSCAN2_uc010vcl.2_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.P200L	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	200					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGGAACCCAGGGAGAAGGCCG	0.438000														146			12		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150839561	150839561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150839561G>A	uc004fev.4	+	11	1455	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	375						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGAACTGGAACTGATGAA	0.443000														124			20		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3688073	3688073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:3688073G>A	uc001akv.2	+	11	2038	c.1957G>A	c.(1957-1959)Ggg>Agg	p.G653R	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	653										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ATCCAAGAAGGGGACCTCCAA	0.612000														85			8		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657234	76657234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:76657234C>T	uc003pik.1	-	13	1971	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	614	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAGATTGGATCGTAGATATGG	0.373000														32			4		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100257891	100257891	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100257891G>A	uc021xqi.1	-	8		c.1231C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGCTACAAGGGAAGGCATCTG	0.398000														31			3		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087381	117087381	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:117087381C>T	uc004bik.4	+	4	600	c.489C>T	c.(487-489)ctC>ctT	p.L163L	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	163					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ACGAAGCTCTCGACTGCTTGC	0.572000														117			33		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945546	16945546	+	RNA	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16945546C>A	uc010ocf.2	-	3		c.611G>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GTGCCGTGTACCCATCAACTT	0.632000														581			16		1.99824e-07	2.01616e-07	1	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144060423	144060423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:144060423C>T	uc003wel.3	+	1	779	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	ARHGEF5_uc003wek.3_Missense_Mutation_p.L221F	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	221					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.G220E(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AAGTCAAGGGCTCTTGCATCC	0.572000														315			9		0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100057780	100057780	+	Missense_Mutation	SNP	C	T	T	rs139053416		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100057780C>T	uc003hun.3	-	4	495	c.419G>A	c.(418-420)gGa>gAa	p.G140E	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.G159E	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	140					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.G140E(2)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AACTGGTTTTCCTTTGCAGGT	0.348000														57			4		0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511732	36511732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:36511732G>A	uc001mwq.2	-	7	1606	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	TRAF6_uc001mws.2_Missense_Mutation_p.L409F	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	409	MATH.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGGACAAAAAGGGATATATAG	0.493000														53			3		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183707070	183707070	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:183707070G>A	uc003fmg.3	-	2	396	c.231C>T	c.(229-231)ccC>ccT	p.P77P	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Silent_p.P77P|ABCC5_uc003fmh.3_Silent_p.P77P|ABCC5_uc010hxm.3_Non-coding_Transcript|ABCC5_uc010hxn.3_Silent_p.P77P|ABCC5_uc010hxo.3_Silent_p.P77P	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	77						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTTTCCCTTGGGATGCTCCT	0.532000														54			7		0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198992	58198992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58198992G>A	uc002qpw.4	+	2	1524	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	ZNF551_uc002qpv.4_Missense_Mutation_p.R377K|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATGAATGCAGAGAATGTGGG	0.428000														118			20		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152500373	152500373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152500373C>T	uc021vrb.1	-	54	7944	c.7915G>A	c.(7915-7917)Gat>Aat	p.D2639N	NEB_uc002txu.3_Missense_Mutation_p.D2639N|NEB_uc021vrc.1_Missense_Mutation_p.D2639N|NEB_uc010fnx.3_Missense_Mutation_p.D2639N|NEB_uc021vrd.1_Missense_Mutation_p.D2639N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2639					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGATGACATCGCTCTGGTCG	0.512000														191			13		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113209547	113209547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:113209547C>T	uc001pnv.3	+	8	751	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	TTC12_uc001pnu.3_Nonsense_Mutation_p.Q210*|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Nonsense_Mutation_p.Q60*	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	210							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCTGCAAACCCAGGTGAAAGG	0.483000														93			5		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101200735	101200735	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:101200735C>T	uc010lhy.1	+	12	1422	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P	EMID2_uc003uyo.1_3'UTR	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	417						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GCGCCCAACCCGATGGGGTCC	0.647000														39			4		0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	652848	652848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:652848C>T	uc010drs.3	-	1	224	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	38							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGCTCCTCGATAAAACCA	0.597000														37			4		0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72083432	72083432	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72083432C>T	uc001sws.3	+	1	775	c.192C>T	c.(190-192)atC>atT	p.I64I	TMEM19_uc001swr.1_Silent_p.I50I	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	64						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGTTCTGATCGTCTCTAATG	0.383000														146			11		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419581	123419581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:123419581C>T	uc003ego.3	-	17	3016	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	MYLK_uc011bjw.2_Missense_Mutation_p.E912K|MYLK_uc003egp.3_Missense_Mutation_p.E843K|MYLK_uc003egq.3_Missense_Mutation_p.E912K|MYLK_uc003egr.3_Missense_Mutation_p.E843K|MYLK_uc003egs.3_Missense_Mutation_p.E736K|MYLK_uc003egt.3_Missense_Mutation_p.E103K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	912	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGTCGTCTTCCGATAGGGTC	0.582000														71			12		0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188435	135188435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:135188435G>A	uc003laz.1	+	3	518	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	SLC25A48_uc003lba.3_Missense_Mutation_p.V116I			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	116					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGCCGGCGTGGTCTCTGTCGG	0.677000														41			3		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43223480	43223480	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43223480G>A	uc003ouq.1	+	8	1026	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	249	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AACAGGTAGGGATGATCAAGG	0.582000														125			7		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10569321	10569321	+	Missense_Mutation	SNP	G	A	A	rs138941727		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10569321G>A	uc001qyi.1	-	4	577	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	KLRC2_uc001qyf.3_Missense_Mutation_p.R178C|KLRC2_uc021qvc.1_Missense_Mutation_p.R178C|KLRC2_uc001qyh.3_Missense_Mutation_p.R178C|KLRC2_uc021qvd.1_Missense_Mutation_p.R178C	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	177	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.R178C(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CTGCTGTTACGAAACACACCA	0.294000														57			6		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073120	17073120	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:17073120G>A	uc002zlp.1	-	0	581	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	107					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.F107F(2)		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)				GCAGAACCACGAAGGCTGTGC	0.662000														88			4		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868018	7868018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7868018C>T	uc001qtf.3	+	1	400	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	108						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGGCGGAGTTCGTACGGTATG	0.483000														71			9		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490169	37490169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37490169C>T	uc021ppc.1	+	30	2716	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	ANKRD30A_uc001iza.1_Missense_Mutation_p.R873C	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	929						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						ACAGAGTCTCCGTGAGACTGT	0.274000														63			7		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136916766	136916766	+	Silent	SNP	C	T	T	rs12339799		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:136916766C>T	uc004cew.3	-	3	605	c.417G>A	c.(415-417)caG>caA	p.Q139Q	BRD3_uc004cex.2_Silent_p.Q139Q	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	139						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTTGGGGCATCTGGGCCACTT	0.532000			T	C15orf55	lethal midline carcinoma of young people									44			11		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914626	23914626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:23914626G>A	uc001uon.2	-	9	3978	c.3389C>T	c.(3388-3390)aCc>aTc	p.T1130I	SACS_uc001uoo.2_Missense_Mutation_p.T983I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1130					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGTAAGAGGGTTTTGGCTTT	0.393000														121			18		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169626019	169626019	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169626019G>A	uc002uec.1	+	11	1151	c.1027_splice	c.e11-1	p.V343_splice	CERS6_uc002ueb.1_Splice_Site_p.V335_splice	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	335						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTACTCCACAGGTGTCCAAGG	0.488000														79			8		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73072419	73072419	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:73072419G>A	uc010izf.3	+	5	914	c.738G>A	c.(736-738)tcG>tcA	p.S246S	RGNEF_uc011csq.2_Silent_p.S246S|RGNEF_uc003kcy.1_Silent_p.S246S|RGNEF_uc021yam.1_Silent_p.S246S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	246					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TTCACTCATCGGAAACGCTGA	0.473000														161			7		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623609	74623609	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74623609G>A	uc002jsh.3	-	2	1062	c.888C>T	c.(886-888)ctC>ctT	p.L296L	ST6GALNAC1_uc002jsi.3_Silent_p.L164L|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	296					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGGCAGAAAGAGTTTCTGGA	0.532000														132			10		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727789	35727789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35727789G>A	uc003jjo.3	+	20	3038	c.2927G>A	c.(2926-2928)gGa>gAa	p.G976E	SPEF2_uc003jjp.1_Missense_Mutation_p.G462E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	976					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCCTAAAGGAAAATCATCA	0.383000														64			4		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15884953	15884953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15884953G>A	uc010xor.1	-	1	129	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		GTCAGCATCCGACGGTGGCGG	0.552000														21			3		0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396264	34396264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:34396264C>T	uc001zho.3	+	0	1991	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	511										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CGTCCTTGCTCCGATGATGTC	0.488000														32			6		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970103	123970103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:123970103C>T	uc001lfv.3	+	8	6523	c.6163C>T	c.(6163-6165)Cgt>Tgt	p.R2055C	TACC2_uc001lfw.3_Missense_Mutation_p.R201C|TACC2_uc009xzx.3_Missense_Mutation_p.R2010C|TACC2_uc010qtv.2_Missense_Mutation_p.R2059C|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.R133C|TACC2_uc001lga.3_Missense_Mutation_p.R133C|TACC2_uc009xzy.3_Missense_Mutation_p.R133C|TACC2_uc001lgb.3_Missense_Mutation_p.R90C|TACC2_uc010qtw.1_Missense_Mutation_p.R150C	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2055						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTGGAGCCTCGTGCCTCAGA	0.527000														82			10		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25044463	25044463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:25044463G>A	uc010ykm.2	-	18	3252	c.3053C>T	c.(3052-3054)gCc>gTc	p.A1018V	CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.A604V|ADCY3_uc002rfs.4_Missense_Mutation_p.A1017V	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	1017					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGCGAAGTCGGCCAGGTCAGC	0.607000														287			14		0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47918586	47918586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47918586G>A	uc002let.3	+	6	921	c.737G>A	c.(736-738)gGg>gAg	p.G246E	SKA1_uc002leu.3_Missense_Mutation_p.G246E|SKA1_uc010xdl.2_Missense_Mutation_p.G200E	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	246					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.R245Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GAGGTCCGAGGGGGAGGACTT	0.403000														102			6		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41006556	41006556	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:41006556G>A	uc002ibv.3	+	1	1852	c.1692G>A	c.(1690-1692)gtG>gtA	p.V564V		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	564					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGCTGCAGGTGACCCGGAAGC	0.642000														62			6		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65409615	65409615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:65409615G>A	uc011moz.2	+	5	1197	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	HEPH_uc004dwn.3_Missense_Mutation_p.E303K|HEPH_uc004dwo.3_Missense_Mutation_p.E33K|HEPH_uc010nkr.3_Missense_Mutation_p.E303K|HEPH_uc011mpa.2_Missense_Mutation_p.E303K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	300	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGGGCAATGAAATTGATGT	0.468000														35			3		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65847568	65847568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:65847568C>T	uc001ssn.3	+	4	500	c.374C>T	c.(373-375)tCc>tTc	p.S125F	MSRB3_uc009zqp.3_Missense_Mutation_p.S118F|MSRB3_uc001ssm.3_Missense_Mutation_p.S118F|MSRB3_uc021qzy.1_Missense_Mutation_p.S118F	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	125					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGACTTTTCCTATGGGATG	0.458000														76			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20959876C>T	uc010vbe.2	-	56	11272	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_uc010vbd.2_Missense_Mutation_p.E1193K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3758					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCAATTTCCTTACAGTAG	0.532000														29			4		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166024	71166025	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:71166024_71166025GG>AA	uc002jje.3	+	1	926_927	c.566_567GG>AA	c.(565-567)ggg>gAA	p.G189E	SSTR2_uc021ucm.1_Missense_Mutation_p.G189E	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	189					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			AACCAGTGGGGGAGAAGCAGCT	0.564000														62			4		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239257	100239257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100239257C>T	uc003hus.4	-	2	289	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ADH1B_uc003hut.4_Missense_Mutation_p.E29K|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E29K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	69					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			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)	CCGGCTGCCTCATGGCCTAAA	0.522000														197			11		0	0	1	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182662918	182662918	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:182662918G>A	uc003fld.1	-	6	793	c.744C>T	c.(742-744)cgC>cgT	p.R248R		NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) (DCUN1D1), mRNA.	248	DCUN1.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAATTTGAGGGCGTGCAAATT	0.373000														50			4		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56703300	56703300	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56703300C>T	uc010ygh.2	-	1	507	c.507G>A	c.(505-507)gtG>gtA	p.V169V		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	169					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCATCTGGTTCACAGAGGAGG	0.602000														64			9		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100831779	100831779	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:100831779A>T	uc003yiv.3	+	47	8947	c.8836A>T	c.(8836-8838)Ata>Tta	p.I2946L	VPS13B_uc003yiw.3_Missense_Mutation_p.I2921L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2946					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)			GCTTCAACCCATATGGCCCTA	0.368000														24			3		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540377	96540377	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96540377G>A	uc010qnz.2	+	3	603	c.603G>A	c.(601-603)ttG>ttA	p.L201L	CYP2C19_uc009xus.1_Silent_p.L66L|CYP2C19_uc010qny.2_Silent_p.L179L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	201					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)	TGGAAAAATTGAATGAAAACA	0.403000														75			11		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53044219	53044219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53044219C>T	uc001sat.3	-	1	737	c.704G>A	c.(703-705)aGc>aAc	p.S235N		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	235	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.D234N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCTCTTGAGGCTGTCGATATA	0.473000														231			17		0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95142075	95142075	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:95142075T>G	uc004arz.3	+	4	1038	c.498T>G	c.(496-498)ttT>ttG	p.F166L	CENPP_uc010mqx.3_Missense_Mutation_p.F54L	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	Homo sapiens centromere protein P (CENPP), mRNA.	166					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TGTTCATGTTTTTCCGAAGCC	0.318000														69			5		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35014170	35014170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35014170C>T	uc003jjf.3	-	9	1261	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.2_Intron	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	340					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.H339H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGCAGGACATCGTGGGTTTGG	0.502000														62			9		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935492	30935492	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:30935492G>A	uc002nsu.1	+	1	1161	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	ZNF536_uc010edd.1_Silent_p.S341S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGCAGTCGGCCAACGAGT	0.647000														224			9		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31151930	31151930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31151930C>T	uc002ebd.3	-	12	2109	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PRSS36_uc010vff.2_Missense_Mutation_p.E459K|PRSS36_uc010vfg.2_Missense_Mutation_p.E679K|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	684	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GAGCTCAGCTCCAGGAGGGCC	0.711000														22			4		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69656203	69656203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:69656203G>A	uc001sut.4	+	8	1630	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	CPSF6_uc001suu.4_Missense_Mutation_p.R544Q|CPSF6_uc010stk.2_Missense_Mutation_p.R139Q	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	507	Arg-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAAAAGAGTCGACGTCATAAA	0.453000														58			11		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176168	8176168	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8176168G>A	uc003wsh.4	-	4	3717	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1239	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AAGCAGACACGATCTCGGGGG	0.617000														68			5		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077134	144077134	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:144077134G>A	uc003wel.3	+	14	4897	c.4779G>A	c.(4777-4779)gtG>gtA	p.V1593V	ARHGEF5_uc003wem.3_Silent_p.V394V	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1593					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TACAGCTGGTGGAACAGCAAG	0.542000														101			7		0	0	1	0	0
WDR67	93594	broad.mit.edu	37	8	124105836	124105836	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124105836C>T	uc003ypp.2	+	4	615	c.525C>T	c.(523-525)ttC>ttT	p.F175F	WDR67_uc011lig.2_Silent_p.F175F|WDR67_uc011lih.2_Silent_p.F65F|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Silent_p.F175F|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	175						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTAGGTTTTCTTTCTACCAT	0.299000														62			9		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112452237	112452237	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:112452237G>A	uc003pvu.2	-	28	4210	c.3901C>T	c.(3901-3903)Cag>Tag	p.Q1301*	LAMA4_uc003pvv.2_Nonsense_Mutation_p.Q1294*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.Q1294*	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1301	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.Y1300Y(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTACTGACTGAACTTTGATT	0.443000														59			5		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77353455	77353456	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:77353455_77353456CC>TT	uc004ajl.1	-	35	5881_5882	c.5643_5644GG>AA	c.(5641-5646)ggggag>ggAAag	p.E1882K	TRPM6_uc004ajk.1_Missense_Mutation_p.E1877K|TRPM6_uc022bib.1_Missense_Mutation_p.E1877K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E833K|TRPM6_uc010mpd.1_Missense_Mutation_p.E715K|TRPM6_uc010mpe.1_Missense_Mutation_p.E429K|TRPM6_uc004ajj.1_Missense_Mutation_p.E838K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1882	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1881W(1)		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						TTCCGGAACTCCCCTGTCATAT	0.465000														54			4		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68441139	68441139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:68441139C>T	uc003hde.4	+	2	311	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	STAP1_uc003hdf.3_Missense_Mutation_p.L77F	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	77	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTCACATGCCTTACTGAGCA	0.393000														80			6		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754581	141754581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141754581G>A	uc003vwy.3	+	26	3241	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1063					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)	GAATCGGTATGAAGTTCCAGT	0.418000														217			12		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39088773	39088773	+	Missense_Mutation	SNP	C	T	T	rs145044261		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:39088773C>T	uc002rrf.3	-	4	878	c.779G>A	c.(778-780)gGa>gAa	p.G260E	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.G260E	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	260							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)				AAATTTTTCTCCACAGATGGA	0.433000														65			7		0	0	1	0	0
CD320	51293	broad.mit.edu	37	19	8367400	8367401	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8367400_8367401CC>TT	uc002mjj.2	-	4	861_862	c.795_796GG>AA	c.(793-798)ctggtg>ctAAtg	p.V266M	CD320_uc002mjl.2_Missense_Mutation_p.V224M|CD320_uc002mjk.2_Non-coding_Transcript	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	Homo sapiens CD320 molecule (CD320), transcript variant 1, mRNA.	266					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						TTCATGGCCACCAGTAACCCCA	0.644000														115			9		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667094	157667094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157667094G>A	uc001fqz.4	-	5	972	c.680C>T	c.(679-681)tCc>tTc	p.S227F	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.S227F|FCRL3_uc001frc.1_Missense_Mutation_p.S227F	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	227	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGAAGAGGGAGAATTGCAG	0.587000														77			6		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864362	153864362	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:153864362G>C	uc003inf.2	+	0	228	c.153G>C	c.(151-153)agG>agC	p.R51S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	51					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CATGTTCAAGGGAAGAGTGTC	0.612000														27			5		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675728	68675728	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:68675728C>T	uc001ook.1	+	2	474	c.372C>T	c.(370-372)ttC>ttT	p.F124F	IGHMBP2_uc001ooj.1_Non-coding_Transcript	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	124					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCACGATTTCCAGTTGAGCT	0.507000														110			12		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408570	29408570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:29408570C>T	uc011dlp.2	+	0	855	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATCTATATTCGCCCTAAGGC	0.582000														330			39		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526505	84526505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:84526505G>A	uc004eeq.3	+	9	2981	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	ZNF711_uc004eep.3_Missense_Mutation_p.D653N|ZNF711_uc004eeo.3_Missense_Mutation_p.D653N|ZNF711_uc011mqy.1_Missense_Mutation_p.D252N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	653					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGGCACTGTGACTTTAAAAC	0.393000														24			6		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476012	42476012	+	Missense_Mutation	SNP	G	A	A	rs145593760	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42476012G>A	uc002igw.2	-	7	3652	c.3433C>T	c.(3433-3435)Ctt>Ttt	p.L1145F	GPATCH8_uc002igv.2_Missense_Mutation_p.L1067F|GPATCH8_uc010wiz.2_Missense_Mutation_p.L1067F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1145						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCAGTGGAAGGACAGGCTTA	0.552000														281			22		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25443048	25443048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:25443048C>T	uc002wux.1	-	19	3627	c.3553G>A	c.(3553-3555)Gag>Aag	p.E1185K	NINL_uc010gdn.1_Missense_Mutation_p.E836K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1185					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCACCTCCTCCAGGCTCTGT	0.607000														75			9		0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150318954	150318954	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:150318954C>G	uc001eum.4	+	13	1992	c.1830C>G	c.(1828-1830)aaC>aaG	p.N610K	PRPF3_uc010pca.2_Missense_Mutation_p.N569K|PRPF3_uc010pcb.2_Missense_Mutation_p.N561K	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	610					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AGACATCTAACACAAAGGGAG	0.483000														75			4		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31155017	31155017	+	Silent	SNP	G	A	A	rs148988791	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31155017G>A	uc002rns.3	-	10	1630	c.990C>T	c.(988-990)atC>atT	p.I330I	GALNT14_uc002rnq.3_Silent_p.I305I|GALNT14_uc010ymr.2_Silent_p.I290I|GALNT14_uc002rnr.3_Silent_p.I325I|GALNT14_uc010ezo.2_Silent_p.I292I|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	325	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCAGGGGACGATCTCTAGGC	0.557000														138			11		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420374	105420374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:105420374C>T	uc010axc.1	-	6	1534	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.E372K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	472						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)			GTGCCTCCTTCGGTTGTGTCT	0.527000														66			13		0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712416	41712416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:41712416C>T	uc003ora.2	-	1	257	c.190G>A	c.(190-192)Gag>Aag	p.E64K	PGC_uc021yzm.1_Missense_Mutation_p.E64K	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	64					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCCATGGGCTCGTAGGTCACG	0.582000														56			4		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024443	55024443	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:55024443T>C	uc002lgn.3	+	2	959	c.602T>C	c.(601-603)gTt>gCt	p.V201A		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	201					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAAAGAGATGTTGGAAGAAAA	0.423000														103			10		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31336347	31336347	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31336347C>T	uc002ebr.3	+	18	2459	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	ITGAM_uc002ebq.3_Silent_p.F786F|ITGAM_uc010can.3_Silent_p.F192F|ITGAM_uc002ebs.1_Silent_p.F192F|ITGAM_uc010vfj.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	786					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCTTCAGTTTCATGAGGTGAG	0.478000														33			5		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505313	155505313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:155505313G>A	uc003iod.1	-	5	2622	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	855	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGCGAACAGCCCTGAGGGA	0.478000														86			4		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134339	27134339	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:27134339T>A	uc003sye.3	-	1	822	c.728A>T	c.(727-729)gAa>gTa	p.E243V	HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	243						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTCTCCAGTTCCGTGAGCTG	0.582000														173			17		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97023694	97023694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:97023694C>T	uc001kkh.3	-	3	569	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	154					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAGATATTTTCAGAAGAGTAG	0.557000														74			11		0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156261254	156261254	+	Silent	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156261254G>T	uc010phi.2	+	3	1246	c.1050G>T	c.(1048-1050)ctG>ctT	p.L350L	TMEM79_uc001fod.3_Silent_p.L191L|TMEM79_uc009wrw.3_Silent_p.L350L|C1orf85_uc001fof.4_Intron	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	350						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGCCACTGCTGTCGATGCTGA	0.622000														216			24		3.65163e-15	3.6986e-15	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159410164	159410164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:159410164G>A	uc010piv.2	+	0	653	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	206					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)					CACTGTCAATGAAATCCTGAC	0.438000														140			21		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815728	215815728	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:215815728T>C	uc002vew.3	-	44	6947	c.6727A>G	c.(6727-6729)Aga>Gga	p.R2243G	ABCA12_uc002vev.3_Missense_Mutation_p.R1925G|ABCA12_uc010zjn.2_Missense_Mutation_p.R1170G	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2243					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTCAACTCTTAATCTCTCA	0.378000														148			11		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131334539	131334539	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:131334539A>G	uc001lkh.2	+	1	142	c.116A>G	c.(115-117)aAa>aGa	p.K39R		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	39										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TGTGAAATGAAACGCACCACA	0.453000								Direct reversal of damage						115			8		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51251579	51251579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51251579C>T	uc011bds.2	+	13	1176	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	385						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.R385C(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAGCTTCTTCGTGGAGACAT	0.383000														25			3		0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25287536	25287536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:25287536G>A	uc002wuq.3	-	9	1162	c.883C>T	c.(883-885)Cct>Tct	p.P295S	ABHD12_uc002wus.2_Missense_Mutation_p.P295S	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	295						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TCAAACCCAGGGAAGTATCGA	0.388000														54			5		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682071	127682071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127682071G>A	uc010hsr.3	+	3	1535	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	KBTBD12_uc003ejy.4_Missense_Mutation_p.R118Q|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Missense_Mutation_p.R86Q|5S_rRNA_uc021xdi.1_5'Flank	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	511										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGCCAGGTTCGAAAATGCCTT	0.527000														22			5		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42280266	42280266	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:42280266C>T	uc021sjp.1	-	15	1812	c.1812G>A	c.(1810-1812)agG>agA	p.R604R	PLA2G4E_uc010udc.2_Silent_p.R47R|PLA2G4E_uc001zov.2_Silent_p.R228R	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	592	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCACTTTCTCCCTTGTCCACC	0.622000														25			6		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480770	19480770	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:19480770G>A	uc002gvx.3	+	16	1703	c.1617G>A	c.(1615-1617)agG>agA	p.R539R	SLC47A1_uc002gvy.1_Silent_p.R539R|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.R237R|SLC47A1_uc010cqq.1_Silent_p.R285R|SLC47A1_uc010vza.1_Silent_p.R251R|SLC47A1_uc010vzb.1_Silent_p.R214R|SLC47A1_uc010vzc.1_Silent_p.R211R	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	539						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AATTGTCCAGGAAACAGCTGG	0.527000														182			11		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143567110	143567110	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:143567110G>A	uc003evn.3	-	0	264	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	SLC9A9_uc011bnk.2_5'UTR	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	19					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						ACCGCTCCCTGATGTTGAAAC	0.408000														68			6		0	0	1	0	0
UFD1L	7353	broad.mit.edu	37	22	19459311	19459311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19459311G>A	uc002zpm.2	-	3	320	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	UFD1L_uc002zpo.2_Missense_Mutation_p.P64S|UFD1L_uc011agy.1_Missense_Mutation_p.P64S|UFD1L_uc002zpp.2_Missense_Mutation_p.P17S|UFD1L_uc010grq.2_Missense_Mutation_p.P17S	NM_005659	NP_005650	Q92890	UFD1_HUMAN	Homo sapiens ubiquitin fusion degradation 1 like (yeast) (UFD1L), transcript variant 1, mRNA.	64					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					AACAGCATGGGATAGGTAATG	0.517000														93			8		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673423	141673423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141673423C>T	uc003vwx.1	-	0	151	c.67G>A	c.(67-69)Gtc>Atc	p.V23I		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	23					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AACTCCAGGACTGAAATGAAC	0.443000														109			8		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174567	51174567	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174567C>T	uc021tif.1	-	1	1597	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	SALL1_uc021tid.1_Silent_p.T425T|SALL1_uc021tie.1_Silent_p.T522T|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	522					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)			TGCCAGTACTCGTGGGGATAT	0.517000														141			16		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60903661	60903661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:60903661G>A	uc001xez.4	-	17	1776	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S	C14orf39_uc010apo.3_Missense_Mutation_p.P267S	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	556										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)		AATGAAAATGGAAAACTAAAA	0.338000														145			17		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803390	185803390	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:185803390C>T	uc002uph.3	+	3	3861	c.3267C>T	c.(3265-3267)tcC>tcT	p.S1089S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1089						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						TGCAGCAGTCCTTATGTTCTA	0.542000														93			9		0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691306	39691306	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:39691306C>T	uc002okq.1	+	5	757	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	246	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TTATCCACTTCCTGCACAAGG	0.627000														393			42		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196746662	196746662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196746662G>A	uc002utj.4	-	35	5919	c.5818C>T	c.(5818-5820)Cct>Tct	p.P1940S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1940	AAA 3 (By similarity).		P -> L (in dbSNP:rs2375544).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACATCTTTAGGAATTGGAGGA	0.338000														69			10		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478688	128478688	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128478688C>T	uc003vnz.4	+	7	1451	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	FLNC_uc003voa.4_Silent_p.I414I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	414					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTGGTGATCGTGGACCCAC	0.657000														230			17		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161302643	161302643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:161302643G>A	uc010jiw.3	+	6	1022	c.554G>A	c.(553-555)gGa>gAa	p.G185E	GABRA1_uc010jix.3_Missense_Mutation_p.G185E|GABRA1_uc010jiy.3_Missense_Mutation_p.G185E|GABRA1_uc003lyx.4_Missense_Mutation_p.G185E|GABRA1_uc010jiz.3_Missense_Mutation_p.G185E|GABRA1_uc010jja.3_Missense_Mutation_p.G185E|GABRA1_uc010jjb.3_Missense_Mutation_p.G185E	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	185					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTAAAATTTGGAAGTTGTGAG	0.393000														63			7		0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996509	4996509	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:4996509G>A	uc003mwl.3	-	5	740	c.705C>T	c.(703-705)tgC>tgT	p.C235C	RPP40_uc003mwm.3_Silent_p.C212C	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	235					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCAGAGCCCGGCAGGACACCT	0.597000														63			12		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19490830	19490830	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19490830C>T	uc002dgc.4	+	13	2996	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	TMC5_uc010vaq.2_Silent_p.F697F|TMC5_uc002dgb.4_Silent_p.F749F|TMC5_uc010var.2_Silent_p.F749F|TMC5_uc002dgd.1_Silent_p.F503F|TMC5_uc002dge.4_Silent_p.F503F|TMC5_uc002dgf.4_Silent_p.F432F|TMC5_uc002dgg.4_Silent_p.F390F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	749						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATTCCTTCCTGGGGGAGT	0.468000														133			14		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588716	72588716	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72588716G>A	uc002jla.1	+	2	893	c.531G>A	c.(529-531)aaG>aaA	p.K177K	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Silent_p.K177K	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	177						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGACGGACAAGGCCAGCCATG	0.617000														23			4		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655418	142655418	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142655418A>T	uc003wcb.3	-	4	708	c.498T>A	c.(496-498)acT>acA	p.T166T		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	166					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGAGGGGACCAGTCCCTGCAG	0.483000														94			23		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10081680	10081680	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10081680T>G	uc002mmq.1	-	52	3939	c.3853A>C	c.(3853-3855)Aag>Cag	p.K1285Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1285	Triple-helical 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)			GGGTCTCCCTTCTCCCCTGGG	0.597000														129			10		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062722	76062722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:76062722G>A	uc001oxh.1	-	4	1472	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	PRKRIR_uc021qnn.1_Missense_Mutation_p.S316F|PRKRIR_uc010rrz.1_Missense_Mutation_p.S316F	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	491					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCTTGTAAAAGATAGGACATT	0.423000														45			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94120311	94120311	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94120311C>T	uc001ybv.1	+	35	5957	c.5874C>T	c.(5872-5874)gcC>gcT	p.A1958A	UNC79_uc001ybs.1_Silent_p.A1936A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2113						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						GGACCTTAGCCTCGTCTCTGA	0.507000														193			12		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529220	57529220	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:57529220C>T	uc011kdi.1	+	3	1165	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGGAGAAACTCTACACATGTG	0.398000														25			3		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820859	2820859	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:2820859G>A	uc022aqr.1	-	59	9729	c.9339C>T	c.(9337-9339)ttC>ttT	p.F3113F	CSMD1_uc011kwj.2_Silent_p.F2443F|CSMD1_uc010lrg.3_Silent_p.F1005F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3114	Sushi 25.					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)		AGCCCCAGCGGAAATCACTTC	0.562000														180			18		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141052595	141052595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:141052595G>A	uc003llm.3	-	6	1156	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	ARAP3_uc011dbe.2_Missense_Mutation_p.R22C|ARAP3_uc003lln.3_Missense_Mutation_p.R282C|ARAP3_uc003llo.1_Missense_Mutation_p.R360C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	360	PH 1.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTCTCTGTGCGGAACACGAAC	0.602000														83			9		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106704926	106704926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:106704926G>A	uc001tln.3	+	1	247	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	TCP11L2_uc001tll.3_Missense_Mutation_p.E25K|TCP11L2_uc001tlm.3_Missense_Mutation_p.E25K|TCP11L2_uc001tlo.1_Non-coding_Transcript	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	25	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CCGGTTTTCCGAAAGCATGGC	0.522000														91			8		0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58021521	58021521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:58021521C>T	uc001spg.1	-	9	1696	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	B4GALNT1_uc010sru.2_Missense_Mutation_p.E367K	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	422					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGACGAGCTCGTGGTGGAAG	0.677000														13			3		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527679	65527679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:65527679C>T	uc003xvj.2	-	3	1165	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	321					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.D320D(2)|p.E321G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CGGTCAATTTCGTCACGCACT	0.488000														55			6		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833267	61833267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61833267C>T	uc001jky.3	-	36	7710	c.7372G>A	c.(7372-7374)Ggg>Agg	p.G2458R	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.	2458					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						TAAGACTCCCCTCTTAGTTCT	0.413000														62			8		0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967013	58967013	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58967013C>T	uc002qsv.1	+	3	809	c.702C>T	c.(700-702)ctC>ctT	p.L234L	ZNF324B_uc002qsu.1_Silent_p.L224L|ZNF324B_uc010euq.1_Silent_p.L234L	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|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;0.0164)|Lung(386;0.179)		CTCATAGACTCCTCGGTGGCC	0.642000														14			3		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768888	57768889	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57768888_57768889CC>TT	uc002yan.3	+	0	2814_2815	c.2814_2815CC>TT	c.(2812-2817)tccccc>tcTTcc	p.P939S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	939						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)					ATGCCTTTTCCCCCAAGTACCT	0.634000														161			10		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176372	57176372	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57176372C>T	uc010ygn.2	-	1	422	c.195G>A	c.(193-195)tcG>tcA	p.S65S		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAGCAGGGCTCGATATGGTTC	0.637000														47			4		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38609985	38609985	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:38609985C>T	uc002ohk.3	+	8	2840	c.2331C>T	c.(2329-2331)ggC>ggT	p.G777G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	777	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.G777A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTTTCGGCCCCCCCATCC	0.537000														152			7		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789230	111789230	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:111789230C>T	uc010yxk.1	+	14	1532	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	ACOXL_uc021vmm.1_Silent_p.F289F|ACOXL_uc021vmn.1_Silent_p.F259F	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	466					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGGATTTTTTCCATGCCTGGA	0.458000														83			5		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905102	55905102	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55905102G>A	uc010riz.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGAGCACTAGGAAGACCAGGA	0.502000														129			14		0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623787	2623787	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2623787G>A	uc003mtw.2	-	2	1255	c.270C>T	c.(268-270)ttC>ttT	p.F90F	C6orf195_uc021ykp.1_Silent_p.F90F	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	90										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CCGTGAAAGTGAAGGAGGAAA	0.597000														74			6		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650488	90650488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:90650488G>A	uc001xye.1	+	1	810	c.368G>A	c.(367-369)gGa>gAa	p.G123E		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAGTAGGAGGAAAAATCTTT	0.483000														124			6		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014061	53014061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53014061G>A	uc002pzp.4	+	5	671	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGACCGACATGATCAAAGGCA	0.393000														218			10		0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929515	35929515	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:35929515G>A	uc001iyz.1	-	0	848	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	281					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.W280C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						ACCACAGGCCGATCCAGAAGA	0.602000														60			8		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242312590	242312590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242312590C>T	uc002wbi.2	+	1	232	c.68C>T	c.(67-69)cCt>cTt	p.P23L	FARP2_uc010zoq.2_Missense_Mutation_p.P23L|FARP2_uc010zor.2_Missense_Mutation_p.P23L	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	23					Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCCCAGACCCCTGTGGGAGTT	0.522000														63			8		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285582	238285582	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:238285582A>G	uc002vwl.2	-	6	3188	c.2903T>C	c.(2902-2904)gTt>gCt	p.V968A	COL6A3_uc002vwo.2_Missense_Mutation_p.V762A|COL6A3_uc010znj.1_Missense_Mutation_p.V361A|COL6A3_uc002vwq.3_Missense_Mutation_p.V762A|COL6A3_uc002vwr.3_Missense_Mutation_p.V561A|COL6A3_uc010znk.1_Missense_Mutation_p.V768A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	968	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAAAGGCACAACCCCACTCTG	0.562000														158			8		0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12546886	12546886	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:12546886T>C	uc002kre.3	-	2	437	c.390A>G	c.(388-390)ggA>ggG	p.G130G	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Silent_p.G10G|SPIRE1_uc010wzx.2_Intron|SPIRE1_uc010wzy.2_Silent_p.G130G	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	130	KIND.					cytoskeleton|perinuclear region of cytoplasm	actin binding	p.K129K(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AAATAATAATTCCCAAAGATT	0.383000														14			2		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807590	143807590	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143807590G>A	uc011ktz.2	+	0	915	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGCACTCCAGAGGAAGAGGT	0.443000														98			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686587	100686587	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100686587C>A	uc003uxp.1	+	2	11943	c.11890C>A	c.(11890-11892)Cct>Act	p.P3964T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3964						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)					TGTATCTACCCCTGTGATAAC	0.448000														142			5		0.307466	0.3077	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717004	222717004	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:222717004G>A	uc001hnh.1	-	1	907	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	283					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATTGTGGCGGAATTTGGGGT	0.488000														138			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768044	77768044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77768044G>A	uc003yau.2	+	9	9274	c.8887G>A	c.(8887-8889)Ggg>Agg	p.G2963R	ZFHX4_uc003yaw.1_Missense_Mutation_p.G2918R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2918						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)			TGAAATGTTAGGGAATGAGAT	0.423000										HNSCC(33;0.089)				32			6		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140807694	140807694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140807694G>A	uc004cog.3	+	3	738	c.593G>A	c.(592-594)aGg>aAg	p.R198K	CACNA1B_uc022bqn.1_Missense_Mutation_p.R198K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	198					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)	CGTGTGCTGAGGCCCCTGAAG	0.567000														51			9		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691383	26691383	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26691383G>A	uc001bmg.1	-	3	772	c.654C>T	c.(652-654)caC>caT	p.H218H	ZNF683_uc001bmh.1_Silent_p.H218H|ZNF683_uc009vsj.1_Silent_p.H218H	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCATGAGGAGGTGGGGACATT	0.607000														68			12		0	0	1	0	0
GCET2	257144	broad.mit.edu	37	3	111851963	111851963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111851963C>T	uc021xcl.1	-	0	190	c.5G>A	c.(4-6)gGa>gAa	p.G2E	GCET2_uc003dys.2_Missense_Mutation_p.G2E|GCET2_uc021xcm.1_Missense_Mutation_p.G2E	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	2						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						CAGAGAATTTCCCATCCTCTC	0.502000														131			12		0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130368455	130368455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:130368455C>T	uc003vqi.3	-	2	536	c.79G>A	c.(79-81)Gga>Aga	p.G27R	TSGA13_uc003vqj.3_Missense_Mutation_p.G27R	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	27										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					ACAACCATTCCTTTCTCACGT	0.388000														77			7		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282350	28282350	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:28282350C>T	uc001bpg.3	+	5	1037	c.846C>T	c.(844-846)agC>agT	p.S282S	SMPDL3B_uc001bpf.3_Silent_p.S282S|SMPDL3B_uc010ofq.2_Silent_p.S76S|SMPDL3B_uc010ofr.2_Silent_p.S234S	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	282					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ACACCGACAGCTTTCGGATGC	0.567000														88			8		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683756	6683756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6683756G>A	uc010vtg.2	+	1	689	c.569G>A	c.(568-570)aGg>aAg	p.R190K		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	190										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AGCTACATGAGGAATGAGAAT	0.488000														55			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048086	9048086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9048086G>A	uc002mkp.3	-	4	33749	c.33545C>T	c.(33544-33546)tCa>tTa	p.S11182L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11184	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						GGTGACCAATGAAGTTGTGGT	0.458000														24			3		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141290290	141290290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:141290290C>T	uc010huq.1	+	10	1063	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	RASA2_uc003etz.1_Nonsense_Mutation_p.R355*|RASA2_uc003eua.1_Nonsense_Mutation_p.R355*|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	355					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGAAATATGTCGAGATAAAAA	0.398000														216			22		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043848	56043848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56043848G>A	uc001nio.1	+	0	734	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTGCTGAAGGGAGGAGAAAA	0.433000														124			8		0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52226376	52226376	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52226376C>T	uc001cst.3	+	9	834	c.651C>T	c.(649-651)ccC>ccT	p.P217P	OSBPL9_uc001css.3_Silent_p.P204P|OSBPL9_uc009vza.3_Silent_p.P182P|OSBPL9_uc001csu.3_Silent_p.P209P|OSBPL9_uc001csv.3_Silent_p.P34P|OSBPL9_uc001csw.3_Silent_p.P186P|OSBPL9_uc001csy.3_Silent_p.P21P|OSBPL9_uc001csz.3_Silent_p.P21P|OSBPL9_uc001cta.3_Silent_p.P89P|OSBPL9_uc001ctb.3_5'UTR	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	199					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTATTAATCCCGTAGATGCAA	0.368000														82			8		0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97702545	97702545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:97702545C>T	uc003ppb.3	-	9	1273	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.R336K|MMS22L_uc010kcn.1_Missense_Mutation_p.R110K|MMS22L_uc003ppc.3_Missense_Mutation_p.R336K	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	336					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CATAGAGGATCTTCTTCGGTC	0.358000														61			5		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128661	126128661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:126128661G>A	uc001uhe.1	+	5	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	488						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAATGGGAAGGAAATGAAGAG	0.483000														85			7		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955730	54955730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:54955730G>A	uc004dtq.3	+	11	2680	c.2573G>A	c.(2572-2574)gGc>gAc	p.G858D	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.G389D|TRO_uc004dtw.3_Missense_Mutation_p.G461D|TRO_uc004dtx.3_Missense_Mutation_p.G241D	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	858	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ACCACGGCTGGCTTTAGTGGT	0.572000														20			4		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702255	81702255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:81702255G>A	uc001kbh.3	-	3	365	c.322C>T	c.(322-324)Cca>Tca	p.P108S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	108	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGAGGTCCTGGAGGTCCTGAG	0.572000														55			6		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23702327	23702327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23702327C>T	uc003xdw.1	-	3	984	c.700G>A	c.(700-702)Gac>Aac	p.D234N		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	234					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGGGAGAGTCCTCCTCACCT	0.527000														43			4		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259262	89259262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:89259262C>T	uc003dqy.3	+	2	631	c.406C>T	c.(406-408)Cga>Tga	p.R136*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.R136*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.R136*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	136						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)		GGTGAAATTTCGAGAGCATCA	0.418000										TSP Lung(6;0.00050)				186			18		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220315268	220315268	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:220315268C>T	uc001hmc.3	+	19	2642	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	846					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAGAGGTGTTCCAGCACATAC	0.388000														97			4		0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68616180	68616181	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:68616180_68616181GG>AA	uc003jvv.1	-	0	227_228	c.187_188CC>TT	c.(187-189)ccg>TTg	p.P63L	CCDC125_uc003jvx.1_Missense_Mutation_p.P63L|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Intron|CCDC125_uc003jvz.1_Missense_Mutation_p.P63L	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	Homo sapiens coiled-coil domain containing 125 (CCDC125), mRNA.	63						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TCCCTTTCTCGGAAATGGAGGA	0.406000														95			10		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926712	22926712	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:22926712C>T	uc002dli.3	+	1	1005	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	311						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCAAAGGATTCCCTTGCTTGA	0.493000														198			25		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180907	142180907	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142180907C>T	uc011krz.2	-	0	93	c.44G>A	c.(43-45)tGg>tAg	p.W15*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCCACCTGCCCACAGGAGAGA	0.582000														65			4		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677831	62677831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:62677831C>T	uc021qko.1	-	0	742	c.742G>A	c.(742-744)Gct>Act	p.A248T	CHRM1_uc001nwi.3_Missense_Mutation_p.A248T	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	248					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GAGCCCTCAGCCCCTGGCTGA	0.667000														30			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39009955	39009955	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:39009955T>C	uc002oit.3	+	66	10250	c.10120T>C	c.(10120-10122)Tcc>Ccc	p.S3374P	RYR1_uc002oiu.3_Missense_Mutation_p.S3374P|RYR1_uc002oiv.1_Missense_Mutation_p.S294P|RYR1_uc010xuf.1_Missense_Mutation_p.S294P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3374					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)	GAAGGTGGTGTCCGAGGAGGA	0.677000														27			4		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52883755	52883755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52883755C>T	uc001sam.3	-	5	1384	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	392	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.L391L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATCTCAGATCTCAGCCTCTG	0.532000														51			7		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433763	43433763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43433763C>T	uc002ovl.4	-	3	639	c.537G>A	c.(535-537)tgG>tgA	p.W179*	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Nonsense_Mutation_p.W58*	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	180	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				CATTCATCCACCACAGGTAGC	0.517000														285			44		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134878080	134878080	+	Missense_Mutation	SNP	G	A	A	rs139844816		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:134878080G>A	uc003vsp.2	-	10	1624	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.S110F	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	521								p.S521F(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTCCACCTGGGAAGTGAGGCT	0.597000														87			8		0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158014138	158014139	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158014138_158014139CC>TT	uc003qqt.3	+	2	1022_1023	c.525_526CC>TT	c.(523-528)ccccct>ccTTct	p.P176S	ZDHHC14_uc003qqs.3_Missense_Mutation_p.P176S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.P71S	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	176						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TTTTCCGGCCCCCTCGCGCCTC	0.599000														71			9		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048686	6048686	+	Silent	SNP	G	A	A	rs147711206		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6048686G>A	uc010qzw.2	-	0	286	c.249C>T	c.(247-249)acC>acT	p.T83T		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGATGACGGTGAGGCAGA	0.577000														41			6		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835800	12835800	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12835800G>A	uc001aui.3	+	1	429	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	134										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)		GAACAGCAGGGAACTGTCCAA	0.537000														107			19		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424883	125424883	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125424883A>G	uc022bmz.1	+	0	889	c.889A>G	c.(889-891)Aag>Gag	p.K297E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	347					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CAAAGACATGAAGCAGGGTTT	0.393000														82			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401380	34401380	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34401380G>A	uc001bxm.1	-	3	870	c.693C>T	c.(691-693)ttC>ttT	p.F231F	CSMD2_uc001bxn.1_Silent_p.F191F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	191	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGGCAGGGGGAAGTCCCACG	0.627000														52			5		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44168907	44168907	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:44168907C>T	uc003bdy.2	-	3	530	c.216G>A	c.(214-216)ggG>ggA	p.G72G	EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.G69G|EFCAB6_uc003beb.4_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	72	EF-hand 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCAACTCATCCCCTCTGTCGG	0.408000														117			4		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963870	123963870	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:123963870T>C	uc022bag.1	+	0	120	c.120T>C	c.(118-120)ccT>ccC	p.P40P	ZHX2_uc003ypk.1_Silent_p.P40P	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	40						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CACCACAGCCTGACGTGGCCA	0.483000														38			4		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330948	21330948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:21330948G>A	uc002kuq.3	+	4	837	c.751G>A	c.(751-753)Gag>Aag	p.E251K	LAMA3_uc010dlv.2_Missense_Mutation_p.E251K|LAMA3_uc002kur.3_Missense_Mutation_p.E251K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	251	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCCTGAGGGAGTTTACCAA	0.458000														108			8		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538384	1538384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1538384C>T	uc002fsz.1	-	10	2211	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.E635K	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	721	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	p.A720E(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCTTGGCTTCCGCCTGGCCT	0.632000														48			8		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402423	47402423	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47402423C>T	uc001cqp.4	-	3	474	c.423G>A	c.(421-423)caG>caA	p.Q141Q	CYP4A11_uc001cqq.2_Silent_p.Q141Q|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	141					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCCGTCGATGCTGGAACCATG	0.537000														62			15		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381695	156381695	+	Missense_Mutation	SNP	G	A	A	rs115724540	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156381695G>A	uc003lwh.2	-	1	188	c.131C>T	c.(130-132)tCc>tTc	p.S44F	TIMD4_uc010jii.2_Missense_Mutation_p.S44F	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	44	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGACCAGGATGAGTACAG	0.542000														60			5		0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322729	150322729	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:150322729C>T	uc003qnq.3	-	1		c.148G>A								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		ATCCACCAGGCCTTGAACTTC	0.453000														89			13		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106763	55106764	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55106763_55106764CC>TT	uc002qgh.1	+	4	739_740	c.557_558CC>TT	c.(556-558)ccc>cTT	p.P186L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.P186L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	186	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCTGTGGGCCCCGTGAGCCCGA	0.574000														175			14		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219008	130219008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:130219008G>A	uc004evz.3	+	6	1270	c.925G>A	c.(925-927)Gat>Aat	p.D309N	ARHGAP36_uc004ewa.3_Missense_Mutation_p.D297N|ARHGAP36_uc004ewb.3_Missense_Mutation_p.D278N|ARHGAP36_uc004ewc.3_Missense_Mutation_p.D173N	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	309	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGCCAGATGATCTGTACAT	0.488000														64			17		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887927	9887927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:9887927G>A	uc002koi.4	+	1	1900	c.1451G>A	c.(1450-1452)aGg>aAg	p.R484K	TXNDC2_uc002koh.4_Missense_Mutation_p.R417K|TXNDC2_uc021ugx.1_Missense_Mutation_p.R417K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	484	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGGCCCTGCAGGACCATCAGA	0.582000														63			7		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754683	141754683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141754683C>T	uc003vwy.3	+	26	3343	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1097	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1097C(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGAAATTCGCCGGAAGAG	0.498000														64			7		0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2753450	2753450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:2753450C>T	uc003jdc.3	+	2	502	c.385C>T	c.(385-387)Cct>Tct	p.P129S	C5orf38_uc011cmg.2_Missense_Mutation_p.P129S|C5orf38_uc011cmh.2_Non-coding_Transcript|C5orf38_uc011cmi.2_Non-coding_Transcript|C5orf38_uc011cmj.2_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	Homo sapiens chromosome 5 open reading frame 38 (C5orf38), mRNA.	129						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GATGGCTCCTCCTGAGCCGGC	0.647000														145			12		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125617604	125617604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:125617604G>A	uc010mwc.1	-	14	2915	c.2674C>T	c.(2674-2676)Cca>Tca	p.P892S	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P892S|RC3H2_uc004bne.4_Missense_Mutation_p.P892S	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	892						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGAATTATTGGATCTTCTTCT	0.413000														72			11		0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531841	75531841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:75531841G>A	uc004ajd.3	-	8	1347	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	ALDH1A1_uc011lsh.2_Missense_Mutation_p.P265S|ALDH1A1_uc011lsg.2_Missense_Mutation_p.P170S	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	344					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTTACCTGAGGGCCTTGAGTG	0.398000														66			4		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113435491	113435491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113435491G>A	uc001tuj.3	+	3	934	c.794G>A	c.(793-795)tGg>tAg	p.W265*	OAS2_uc001tui.1_Nonsense_Mutation_p.W265*	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	265	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTATCTATTGGATGGTCAAC	0.502000														20			3		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731226	57731226	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:57731226G>A	uc010bfw.3	+	2	1222	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	CGNL1_uc002aeg.3_Silent_p.R343R	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	343	Head.					myosin complex|tight junction	motor activity	p.R343W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAACTGGACGGGATATTGATA	0.438000														56			9		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16374434	16374434	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16374434G>A	uc001axx.4	+	4	529	c.393G>A	c.(391-393)gcG>gcA	p.A131A	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	131					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.A131P(1)		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)	CCATGTTGGCGGGTGTGGTCT	0.582000														123			24		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634325	156634325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:156634325G>A	uc003iov.3	+	7	1698	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	GUCY1A3_uc010iqc.2_Missense_Mutation_p.D388N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D387N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D388N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D388N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D153N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D388N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D153N|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D388N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	388					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACCCTGTGTGGACAGATTAGA	0.453000														41			3		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131150	147131150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:147131150G>A	uc001epr.2	-	3	948	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	ACP6_uc009wjj.1_Missense_Mutation_p.R119C	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	162					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TTAGTGGAACGAATACTGAAA	0.398000														77			8		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716154	50716154	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50716154A>G	uc003bkv.4	-	32	5155	c.5062T>C	c.(5062-5064)Ttc>Ctc	p.F1688L	PLXNB2_uc003bkt.1_Missense_Mutation_p.F480L|PLXNB2_uc003bku.1_Missense_Mutation_p.F673L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1688					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)		TTCACCCAGAACCGGAGCGGT	0.637000														153			13		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104391300	104391300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:104391300C>T	uc001tkh.1	-	6	973	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	GLT8D2_uc001tki.1_Missense_Mutation_p.R139Q	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	139						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAGATAAAATCGAACAAAGTT	0.438000														91			5		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15905399	15905399	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:15905399C>T	uc001awv.2	-	3	818	c.675G>A	c.(673-675)cgG>cgA	p.R225R	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	225					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGAGCCCCGGATGCCAA	0.602000														89			7		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119026233	119026233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:119026233G>A	uc003ibx.3	+	2	1445	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	348	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATTCAACCTGGGATTTTCAGG	0.338000														121			8		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186947657	186947657	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:186947657C>T	uc003frh.2	-	10	1722	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	444					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.R443W(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGCCATCAGCTTCCGGGAGA	0.607000														69			4		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594875	50594875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50594875C>T	uc010qgq.2	-	3	279	c.279G>A	c.(277-279)tgG>tgA	p.W93*	DRGX_uc021pqd.1_Nonsense_Mutation_p.W88*	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	93					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGTCTTCCTCCATTTGGCCC	0.557000														193			15		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27296617	27296617	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:27296617C>T	uc003xfn.2	+	23	2521	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	PTK2B_uc022ate.1_Silent_p.S571S|PTK2B_uc003xfp.2_Silent_p.S571S|PTK2B_uc003xfq.2_Silent_p.S571S|PTK2B_uc003xfr.1_Silent_p.S317S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	571	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTGGTCTTTCCCGGTACATTG	0.557000														99			13		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10260313	10260313	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10260313T>C	uc002mng.3	-	24	2534	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	DNMT1_uc010xlc.2_Missense_Mutation_p.D801G|DNMT1_uc002mnh.3_Missense_Mutation_p.D680G|DNMT1_uc010xld.2_Missense_Mutation_p.D785G	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	785	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GTTGCTGCTGTCCTCCCACAG	0.592000														194			22		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179587780	179587780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:179587780G>A	uc010pnp.2	+	4	1396	c.878G>A	c.(877-879)gGa>gAa	p.G293E	TDRD5_uc021pfm.1_Missense_Mutation_p.G293E|TDRD5_uc001gnf.2_Missense_Mutation_p.G293E|TDRD5_uc021pfn.1_Missense_Mutation_p.G293E|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	293					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGACCTGGAGGAACTATCAGT	0.313000														48			4		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399709	46399709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46399709C>T	uc003cpn.4	+	1	1176	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	CCR2_uc003cpm.4_Missense_Mutation_p.R231W|CCR2_uc021wxa.1_Missense_Mutation_p.R231W	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	231					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AACCCTGCTTCGGTGTCGAAA	0.448000														220			29		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449913	138449913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:138449913C>T	uc003ihe.4	-	1	2936	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	PCDH18_uc003ihf.4_Missense_Mutation_p.R842Q|PCDH18_uc011cgz.2_Missense_Mutation_p.R61Q|PCDH18_uc003ihg.4_Missense_Mutation_p.R629Q|PCDH18_uc011cha.2_Missense_Mutation_p.R30Q	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	850					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTGTTTCCTCGAAAACTTGG	0.373000														95			5		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746869	90746869	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:90746869G>A	uc011lti.2	-	3	1112	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	361																	ATAGGACTGGGAAAGAGGATT	0.527000														430			13		0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370014	11370014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11370014G>A	uc002dau.1	-	0	324	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	RMI2_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank	NM_002762	NP_002753	P04554	PRM2_HUMAN	Homo sapiens protamine 2 (PRM2), mRNA.	72					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CTGCAGGAGCGATGCTGCCGC	0.652000														72			9		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084807	64084807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:64084807G>A	uc003dmf.3	-	7	3041	c.2455C>T	c.(2455-2457)Ccc>Tcc	p.P819S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	819						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GAAGATTTGGGGAGGCCGTAG	0.502000														125			7		0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152201885	152201885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152201885G>A	uc010kio.3	+	3	963	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	ESR1_uc003qom.4_Missense_Mutation_p.E247K|ESR1_uc010kin.3_Missense_Mutation_p.E247K|ESR1_uc010kip.3_Missense_Mutation_p.E247K|ESR1_uc003qon.4_Missense_Mutation_p.E247K|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.E247K|ESR1_uc010kiq.3_Missense_Mutation_p.R3Q|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.E74K|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Missense_Mutation_p.E28K	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	247	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.E247K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TAAATGCTACGAAGTGGGAAT	0.542000														40			5		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629015	47629015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47629015G>A	uc001rpq.3	+	1	694	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	FAM113B_uc001rpn.3_Missense_Mutation_p.E57K|FAM113B_uc021qxi.1_Missense_Mutation_p.E57K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	57							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)					GCTGAACTTCGAACAAGATGA	0.607000														46			6		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523969	55523969	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55523969C>T	uc010spe.2	+	0	417	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGGGATTTCTCCTGGCGGCCA	0.498000														60			4		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887103	1887103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1887103C>T	uc001aim.1	-	17	2359	c.2203G>A	c.(2203-2205)Ggg>Agg	p.G735R	KIAA1751_uc009vkz.1_Intron	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	735										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	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;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CCCGCCCACCCTGGCTTGGCC	0.652000														128			19		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835623	247835623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247835623G>A	uc001idi.1	-	0	721	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H241Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ACTGTGAGATGAGATGAGCAT	0.443000														49			6		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61582854	61582854	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61582854C>A	uc010xev.2	+	1	200	c.110C>A	c.(109-111)aCt>aAt	p.T37N	SERPINB2_uc002ljp.1_Missense_Mutation_p.T178N|SERPINB2_uc002ljq.1_Missense_Mutation_p.T151N|SERPINB2_uc010xew.2_Missense_Mutation_p.T37N	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	37					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGCATCTCAACTTCCTTGACC	0.448000														56			8		4.68919e-08	4.73368e-08	1	1	0
SELPLG	6404	broad.mit.edu	37	12	109017296	109017296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:109017296G>A	uc010sxe.2	-	1	1013	c.836C>T	c.(835-837)tCc>tTc	p.S279F	SELPLG_uc001tni.3_Missense_Mutation_p.S263F|SELPLG_uc021rdm.1_Missense_Mutation_p.S253F|SELPLG_uc001tnh.3_Missense_Mutation_p.S253F	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	263					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						GGGTTCTGTGGACAGGGCCTC	0.572000														78			6		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76313941	76313941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:76313941C>T	uc001dhd.2	+	7	1325	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	404					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGTTTTAGTCCAAATTCCAAA	0.274000								Mismatch excision repair (MMR)						61			4		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25440337	25440337	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:25440337T>C	uc001upr.3	+	29	4198	c.4157T>C	c.(4156-4158)tTt>tCt	p.F1386S	RNF17_uc010tde.2_Missense_Mutation_p.F1382S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.F1325S|RNF17_uc010aac.3_Missense_Mutation_p.F578S|RNF17_uc010aad.3_Missense_Mutation_p.F396S	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1386					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)		GAAATAAGGTTTGAGGTAAGT	0.303000														138			5		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107618514	107618514	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107618514G>A	uc003vev.2	-	6	1211	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	LAMB1_uc003vew.2_Silent_p.G326G|LAMB1_uc003vex.3_Silent_p.G326G|LAMB1_uc010ljn.1_Silent_p.G412G	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	326	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTGTTTCGGCCTTCAGCAG	0.438000														93			9		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356760	70356760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:70356760C>T	uc004dyy.3	+	37	5631	c.5432C>T	c.(5431-5433)cCt>cTt	p.P1811L	MED12_uc011mpq.1_Missense_Mutation_p.P1811L|MED12_uc004dyz.3_Missense_Mutation_p.P1811L|MED12_uc004dza.3_Missense_Mutation_p.P1658L|MED12_uc010nla.3_Missense_Mutation_p.P437L	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1811	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGGAGCGGCCCTTATGGTGTG	0.587000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							42			11		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75197555	75197555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:75197555G>A	uc003uds.2	-	8	796	c.751C>T	c.(751-753)Cca>Tca	p.P251S	HIP1_uc011kfz.2_Missense_Mutation_p.P251S	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	251				KLHSCLP -> EFAAAST (in Ref. 6; CAA70574).	activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.P251Q(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGTCAGCTGGGAGGCCTGGA	0.582000			T	PDGFRB	CMML									86			9		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126751236	126751236	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:126751236C>T	uc003ejg.3	+	28	5238	c.5238C>T	c.(5236-5238)ccC>ccT	p.P1746P	PLXNA1_uc003ejh.3_Silent_p.P391P	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1746					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)		GCAGCCTGCCCCTGCGCTTCT	0.602000														97			10		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97544590	97544590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:97544590C>T	uc001drv.3	-	22	3157	c.3020G>A	c.(3019-3021)aGg>aAg	p.R1007K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	1007	4Fe-4S ferredoxin-type 3.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGTGTTGTCCTGGAAACCAT	0.463000														174			18		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773726	35773726	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:35773726C>T	uc003olg.1	+	0	656	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	93						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CCTCTAGAGCCTTCAAGACTG	0.552000														229			19		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681549	3681549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:3681549G>A	uc001lye.1	+	2	901	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	ART1_uc009yeb.1_Missense_Mutation_p.R267Q	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	267					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ATCTACCTCCGAGCCCTGGGC	0.607000														124			15		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857300	9857300	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9857300G>A	uc010uym.2	-	13	4411	c.4101C>T	c.(4099-4101)ttC>ttT	p.F1367F	GRIN2A_uc002czo.4_Silent_p.F1367F|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1367					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P1366L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAGTGGAGGAAAGGGTTAT	0.547000														47			4		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47945536	47945536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:47945536G>A	uc003tny.2	-	9	1460	c.1426C>T	c.(1426-1428)Cca>Tca	p.P476S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	476					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAATAGATGGAAAGTGATGT	0.368000														42			4		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38523757	38523757	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38523757C>T	uc003cif.3	+	8	1167	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	ACVR2B_uc003cig.3_Silent_p.F172F	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	381	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GAGATGCCTTCCTGCGCATTG	0.567000														41			7		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000608	52000608	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52000608G>A	uc002pwx.1	-	5	1553	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SIGLEC12_uc002pww.1_Silent_p.F381F|SIGLEC12_uc010eoy.1_Silent_p.F226F	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	499					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCACACAACGAAGATGATGC	0.572000														135			12		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656616	31656616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31656616G>A	uc002wym.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	329					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CAGGCCCTGGGGAAGCTGCCC	0.582000														53			3		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747940	143747940	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143747940G>A	uc011ktw.2	+	0	446	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149L(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTCACTTCTTGGGCATGTGGT	0.522000														194			32		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212466	50212466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:50212466C>T	uc001zxu.3	-	17	2042	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	ATP8B4_uc010ber.3_Missense_Mutation_p.E507K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E444K|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	634					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.E634K(2)		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)		TCAATTTCTTCATATAGCCCA	0.393000														194			15		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417918	17417918	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:17417918G>A	uc011kye.2	+	8	1548	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S	SLC7A2_uc011kyc.2_Silent_p.S460S|SLC7A2_uc011kyd.2_Silent_p.S499S	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	460					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGTAACCTCGAAGAGTGAGT	0.542000														59			8		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11361866	11361866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11361866C>T	uc002das.3	-	1	445	c.404G>A	c.(403-405)tGg>tAg	p.W135*	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	135					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GTTGGATTTCCATCCTAAGGG	0.443000														29			3		0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112392637	112392637	+	Missense_Mutation	SNP	G	A	A	rs17856920		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:112392637G>A	uc003pvq.3	-	11	1520	c.1406C>T	c.(1405-1407)cCc>cTc	p.P469L		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	469				P -> R (in Ref. 4; AAH31101).	centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GCTTAGTCTGGGTAAATCCTG	0.363000														142			14		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468433	86468433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:86468433G>A	uc003uid.3	+	3	2702	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E407K|GRM3_uc010leh.3_Missense_Mutation_p.E127K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	535					synaptic transmission	integral to plasma membrane				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)	CATCCCCTGTGAACCCTACGA	0.532000														152			10		0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48310173	48310173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:48310173C>T	uc003csl.4	+	3	1058	c.992C>T	c.(991-993)tCg>tTg	p.S331L	ZNF589_uc010hjt.2_Missense_Mutation_p.S328L|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Intron|ZNF589_uc003csm.3_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	Homo sapiens zinc finger protein 589 (ZNF589), mRNA.	331					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGAGAAATCGTTTATGTGC	0.502000														142			13		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23290577	23290577	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23290577G>A	uc003xdl.3	-	12	1985	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.3_Silent_p.F563F	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	571					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GCACCACCAGGAAGCAGCCAG	0.652000														128			7		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331809	107331809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107331809G>A	uc011lvo.2	+	0	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L120Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GATGGCACTGGACCGCTATGT	0.522000														60			12		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158457348	158457348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:158457348G>A	uc011kwe.1	-	13	1719	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	NCAPG2_uc010lqu.1_Missense_Mutation_p.S317F|NCAPG2_uc003wnx.1_Missense_Mutation_p.S525F|NCAPG2_uc003wnv.1_Missense_Mutation_p.S525F|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.S26F|NCAPG2_uc011kwd.1_Missense_Mutation_p.S26F	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	525					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCAGGAAAGAATTAAAGAT	0.547000														162			9		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43912898	43912898	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43912898A>T	uc002zbg.3	-	2	349	c.244T>A	c.(244-246)Ttt>Att	p.F82I		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	82					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GGATATATAAAAGTGCCTTGA	0.328000														128			10		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268923	1268923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1268923G>A	uc001lta.3	+	30	10872	c.10813G>A	c.(10813-10815)Gga>Aga	p.G3605R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3605	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGTGCGGCCGGAGGGGCAGT	0.682000														73			8		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013366	142013366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142013366C>T	uc003vxg.3	+	1	250	c.221C>T	c.(220-222)tCt>tTt	p.S74F	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGAAACTCTCTATAAATGAA	0.478000														134			7		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485521	52485521	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52485521G>A	uc003deb.3	-	4	366	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	114	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	AGCTCATCCAGGTCGATGTAG	0.612000														83			7		0	0	1	0	0
SMPD2	6610	broad.mit.edu	37	6	109763470	109763470	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:109763470A>T	uc003pti.3	+	4	770	c.376A>T	c.(376-378)Agt>Tgt	p.S126C	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	126					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.L125V(1)		endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GCTCCATCTAAGTGGCATGGT	0.577000														68			6		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155530860	155530860	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:155530860T>C	uc003ioj.3	-	5	729	c.588A>G	c.(586-588)aaA>aaG	p.K196K	FGG_uc003iog.3_Silent_p.K196K	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	196	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTTCAGAGGTTTAATAAAGT	0.408000														62			4		0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483759	137483759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:137483759G>A	uc003erm.2	+	0	626	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	45					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCTAGGTGCCGAATGGAAGCT	0.587000														38			9		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378816	51378816	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51378816G>A	uc011bds.2	+	38	3938	c.3915_splice	c.e38+1	p.K1305_splice		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1305	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACAAAGGCAAGGTATGCATCA	0.532000														33			3		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572287	142572287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142572287C>T	uc003wbx.2	-	10	1638	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	TRPV6_uc003wbw.1_Missense_Mutation_p.R256Q|TRPV6_uc010lou.1_Missense_Mutation_p.R341Q	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	470					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGAATCCTCGGGCGAAGTA	0.592000														144			7		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087904	47087904	+	Missense_Mutation	SNP	C	T	T	rs143707760		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:47087904C>T	uc001jee.3	+	2	1540	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.P374L|PPYR1_uc021ppu.1_Missense_Mutation_p.P374L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	374					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.P374L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTCCAATCCCATTTAACCA	0.587000														126			6		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641648	104641648	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:104641648C>T	uc001yos.4	+	11	2523	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	841					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCAGCACCTTCGCGGAGCTGC	0.697000														44			7		0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157920883	157920883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:157920883C>T	uc003fbt.3	+	3	454	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R115C|RSRC1_uc003fbv.3_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	115	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ACCTCGTCTCCGTTCTCATAG	0.398000														26			4		0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019733	131019733	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:131019733G>A	uc011maw.2	-	24	2722	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	GOLGA2_uc010mxw.3_Silent_p.F226F|GOLGA2_uc004buh.3_Intron|DQ583972_uc022boe.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	903						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGCTGCCAGGAATCTGCCAT	0.647000														40			6		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794561	141794561	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141794561C>T	uc003vwy.3	+	39	4722	c.4668C>T	c.(4666-4668)atC>atT	p.I1556I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1556	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)	GAGCAGATATCTGTGGGTTCT	0.483000														40			3		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95464631	95464631	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:95464631C>T	uc010fhp.3	-	16		c.2759G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTTTTATCCTCCTCAAGTTTT	0.294000														16			3		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	409160	409160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:409160G>A	uc001ifp.3	-	20	2659	c.2569C>T	c.(2569-2571)Cag>Tag	p.Q857*	DIP2C_uc009xhi.1_Nonsense_Mutation_p.Q243*|DIP2C_uc010pzz.1_Nonsense_Mutation_p.Q178*	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	857						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCATCCACTGGAAACTGTCC	0.597000														83			5		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26505198	26505198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:26505198G>A	uc003nif.4	+	2	530	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	158	Ig-like V-type 2.					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						CAAGAGAATGGAGAAATCTGT	0.502000														51			4		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158323802C>T	uc001fse.3	+	0	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.F8F|CD1E_uc001fsh.3_Silent_p.F8F|CD1E_uc001fry.3_Silent_p.F8F|CD1E_uc001fsf.3_Silent_p.F8F|CD1E_uc001fsg.3_Silent_p.F8F|CD1E_uc009wsv.3_Silent_p.F8F|CD1E_uc001fsj.3_Silent_p.F8F|CD1E_uc001fsk.3_Silent_p.F8F|CD1E_uc001fsa.3_Silent_p.F8F|CD1E_uc001fsd.3_Silent_p.F8F|CD1E_uc001frz.3_Silent_p.F8F|CD1E_uc010pig.2_Silent_p.F8F|CD1E_uc001fsc.3_Silent_p.F8F|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	8					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000														58			9		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8626763	8626763	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:8626763G>A	uc002wnb.3	+	4	402	c.399G>A	c.(397-399)gaG>gaA	p.E133E	PLCB1_uc010zrb.1_Silent_p.E32E|PLCB1_uc010gbv.1_Silent_p.E133E|PLCB1_uc002wmz.1_Silent_p.E133E|PLCB1_uc002wna.3_Silent_p.E133E|PLCB1_uc002wnc.1_Silent_p.E32E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	133					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGACAAATGAGGTTTTCAGTT	0.408000														74			12		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39222561	39222561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39222561C>T	uc003awk.3	-	2	1196	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	348	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTACAATCTCGTTGGCCTGC	0.672000														157			12		0	0	1	0	0
BC032026	0	broad.mit.edu	37	15	101098935	101098935	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:101098935G>A	uc002bwc.1	+	0		c.51G>A								Homo sapiens cDNA clone IMAGE:4822975.																		ACTTGAGGGCGAAGAAATGCT	0.617000														72			5		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542564	182542564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:182542564G>A	uc021vto.1	-	0	1024	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.H342Y|NEUROD1_uc021vtn.1_Missense_Mutation_p.H342Y	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	342					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACTCGCTCATGATGTGAATGG	0.522000														155			6		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11522871	11522871	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11522871A>G	uc002gne.3	+	5	1191	c.1123A>G	c.(1123-1125)Aat>Gat	p.N375D		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	375	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCCTCTAATTATCTCAG	0.433000														104			7		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526117	68526117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68526117G>A	uc009xpn.1	-	8	1309	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	CTNNA3_uc001jmw.2_Missense_Mutation_p.L396F|CTNNA3_uc001jmx.4_Missense_Mutation_p.L396F	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	396					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGAACCAAAAGAGGGACTGTC	0.403000														56			4		0	0	1	0	0
CCL24	6369	broad.mit.edu	37	7	75442967	75442967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:75442967G>A	uc011kga.2	-	0	126	c.67C>T	c.(67-69)Cct>Tct	p.P23S		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	23					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						TTACCCGTAGGGATGATGTGG	0.607000														160			18		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150715010	150715010	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:150715010G>A	uc003lty.3	-	5	754	c.624C>T	c.(622-624)ttC>ttT	p.F208F	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.F10F|SLC36A2_uc010jhv.2_Silent_p.F208F	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	208					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGGGCAGGAAGGAGAGCA	0.527000														133			12		0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48963707	48963707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:48963707C>T	uc001rrt.3	-	0	123	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	33					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CCATCTATGTCTTTCAGCAGC	0.502000														37			5		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891765	11891765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11891765C>T	uc010dyj.3	+	3	1320	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	ZNF441_uc002msn.4_Missense_Mutation_p.P332S	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G376E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTGATTCTCCCAGTTTATG	0.408000														140			10		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231359	6231359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6231359G>A	uc001mcj.3	+	1	400	c.352G>A	c.(352-354)Gga>Aga	p.G118R		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	118										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)		AATGTTGGATGGACAGCCCTG	0.582000														116			8		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127875	117127875	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117127875C>T	uc003pxj.1	-	2	1015	c.993G>A	c.(991-993)ggG>ggA	p.G331G	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.G331G	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	331					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGGATATATTCCCTCTTCTAA	0.403000														76			4		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:227387341G>A	uc001hqr.3	-	3	1310	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_uc001hqs.3_Missense_Mutation_p.R123C|CDC42BPA_uc009xes.3_Missense_Mutation_p.R123C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.R123C	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	123	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R123C(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284000														49			6		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436648	42436648	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:42436648C>T	uc001zoz.3	-	17	2067	c.1975_splice	c.e17+1	p.D659_splice	PLA2G4F_uc010bcq.3_Splice_Site_p.K11_splice|PLA2G4F_uc001zoy.3_Splice_Site_p.D291_splice|PLA2G4F_uc001zpa.3_Splice_Site_p.D410_splice|PLA2G4F_uc010bcr.3_Splice_Site_p.D410_splice|PLA2G4F_uc010bcs.3_Splice_Site_p.D446_splice	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	659	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGCACCCACCTTTCCAGGCC	0.617000														57			5		0	0	1	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63920636	63920636	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:63920636G>T	uc001dbb.2	-	5	515	c.375C>A	c.(373-375)ttC>ttA	p.F125L	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.F86L|ITGB3BP_uc009wak.1_Missense_Mutation_p.F108L	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	86					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GCAACATCATGAATCTAGTAA	0.308000														24			3		0.184627	0.184909	1	1	0
GRM8	2918	broad.mit.edu	37	7	126410044	126410044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126410044G>A	uc003vlr.2	-	5	1543	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S411F|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.S132F	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	411					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTAAGCCATGGAATATACAGC	0.428000										HNSCC(24;0.065)				25			8		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117561111	117561111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117561111C>T	uc010oxb.1	+	5	2004	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	CD101_uc009whd.3_Missense_Mutation_p.S649F|CD101_uc010oxc.1_Missense_Mutation_p.S649F|CD101_uc010oxd.1_Missense_Mutation_p.S587F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	649	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GACAGAAATTCCCTATACAAC	0.468000														78			11		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379810	88379810	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:88379810G>A	uc001tam.1	-	10	1111	c.943C>T	c.(943-945)Caa>Taa	p.Q315*	C12orf50_uc001tan.3_Nonsense_Mutation_p.Q330*	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	315										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTTATTTTGGGGTCTTGGG	0.423000														65			4		0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73521639	73521639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:73521639G>A	uc001jsd.3	-	1	368	c.227C>T	c.(226-228)tCg>tTg	p.S76L	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_5'UTR	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	76	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTCGCCCCTCGAGCTGCGGTA	0.642000														68			7		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762055	92762055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92762055C>T	uc003umh.1	-	4	4446	c.3230G>A	c.(3229-3231)cGa>cAa	p.R1077Q	SAMD9L_uc003umj.1_Missense_Mutation_p.R1077Q|SAMD9L_uc003umi.1_Missense_Mutation_p.R1077Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1077Q|SAMD9L_uc003umk.1_Missense_Mutation_p.R1077Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1077Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1077Q|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1077Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1077										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGTGGGAATCGTCTACTTCC	0.418000														87			11		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70502226	70502226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:70502226G>A	uc001dep.3	+	17	2123	c.2093G>A	c.(2092-2094)gGa>gAa	p.G698E	LRRC7_uc009wbg.3_Intron|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	698						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						GCTTCCTCAGGATCCTCTAAT	0.453000														80			11		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101580569	101580569	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:101580569C>T	uc010yvt.1	+	7	845	c.843C>T	c.(841-843)tgC>tgT	p.C281C	NPAS2_uc002tap.1_Silent_p.C216C	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	216	PAS 2.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAGACCTTGCCGGGTGCCAC	0.527000														79			7		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121238	38121238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:38121238C>T	uc003atr.3	+	6	2946	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L	TRIOBP_uc003atu.3_Missense_Mutation_p.P720L|TRIOBP_uc003atq.1_Missense_Mutation_p.P892L|TRIOBP_uc003ats.1_Missense_Mutation_p.P720L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	892					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)					TGGAACAATCCCAGGAATTCA	0.532000														330			61		0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309704	22309704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22309704C>T	uc001wbx.2	+	1	189	c.88C>T	c.(88-90)Cct>Tct	p.P30S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		GGAGCAGGATCCTGGACCCTT	0.493000														35			4		0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120449598	120449598	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120449598T>C	uc003edx.3	-	1	113	c.83A>G	c.(82-84)cAa>cGa	p.Q28R		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	28	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CACTTGATTTTGGCATAGGAG	0.383000														83			8		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841761	100841761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:100841761G>A	uc003pqj.4	-	9	1639	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIM1_uc021zdg.1_Missense_Mutation_p.S391L|SIM1_uc010kcu.3_Missense_Mutation_p.S391L	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	391	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGAAATCCCGAATACTGAAA	0.463000														47			6		0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67171795	67171795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67171795G>A	uc001ola.3	+	1	151	c.122G>A	c.(121-123)gGa>gAa	p.G41E	PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Missense_Mutation_p.G41E|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	41						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCGCTATGGATTCATTGGG	0.652000														59			4		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201273	187201273	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187201273C>A	uc003iza.1	+	7	1196	c.863C>A	c.(862-864)cCa>cAa	p.P288Q		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	288					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CACAGCATCCCAGGTAAACTG	0.502000														44			5		1	1	1	1	0
FAM55A	120400	broad.mit.edu	37	11	114400916	114400916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:114400916C>T	uc001ppa.3	-	2	805	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.E272K	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	272						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		AGGCTGTTTTCCTTGTCTGTA	0.463000														53			6		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084379	31084379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31084379G>A	uc003nsm.2	-	1	1069	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	338	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGCTGCAAAGGAAGGGACCCC	0.552000														36			5		0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609476	105609476	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:105609476G>A	uc003prb.3	-	1	711	c.309C>T	c.(307-309)acC>acT	p.T103T	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	103						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCGGGCAAAGGTTATGCTGC	0.433000														266			20		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13563791	13563791	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:13563791G>A	uc002mwy.3	-	2	674	c.438C>T	c.(436-438)ttC>ttT	p.F146F	CACNA1A_uc010xnd.2_Silent_p.F146F|CACNA1A_uc021ups.1_Silent_p.F146F|CACNA1A_uc010xne.2_Silent_p.F146F|CACNA1A_uc010dze.2_Silent_p.F146F|CACNA1A_uc021upt.1_Silent_p.F146F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	146					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCCAGCCTCGAAACAAAAAA	0.483000														74			4		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642784	156642784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156642784G>A	uc001fpq.3	-	3	1329	c.1196C>T	c.(1195-1197)cCt>cTt	p.P399L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	399	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCTACAGCAGGAGAGGGTGC	0.612000														222			17		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718715	80718715	+	Silent	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:80718715G>C	uc002ffs.3	-	1	441	c.336C>G	c.(334-336)ccC>ccG	p.P112P		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	112						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTTGGCCAGGGGAGGGTTAA	0.547000														50			7		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090919	32090919	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32090919G>A	uc003jhl.3	+	19	7753	c.7365G>A	c.(7363-7365)acG>acA	p.T2455T	PDZD2_uc003jhm.3_Silent_p.T2455T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2455					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCACCCCAACGATGACCCTGG	0.567000														96			13		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38128426	38128426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38128426G>A	uc002htl.1	+	5	818	c.700G>A	c.(700-702)Gga>Aga	p.G234R	GSDMA_uc002htm.1_Missense_Mutation_p.G234R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	234					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTTCCCTCCTGGAGGTAAGTG	0.502000														39			3		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629120	48629120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:48629120G>A	uc003ctz.2	-	10	1494	c.1493C>T	c.(1492-1494)aCc>aTc	p.T498I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	498	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAACCACGGTTGCAGGGGT	0.652000														72			12		0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57575908	57575908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57575908C>T	uc001nmc.4	+	13	2709	c.2138C>T	c.(2137-2139)tCt>tTt	p.S713F	CTNND1_uc001nlf.2_Missense_Mutation_p.S713F|CTNND1_uc021qjk.1_Missense_Mutation_p.S707F|CTNND1_uc001nlh.1_Missense_Mutation_p.S713F|CTNND1_uc001nlj.4_Missense_Mutation_p.S653F|CTNND1_uc001nlq.4_Missense_Mutation_p.S612F|CTNND1_uc001nlr.4_Missense_Mutation_p.S653F|CTNND1_uc001nln.4_Missense_Mutation_p.S707F|CTNND1_uc001nli.4_Missense_Mutation_p.S707F|CTNND1_uc001nlo.4_Missense_Mutation_p.S606F|CTNND1_uc001nlp.4_Missense_Mutation_p.S653F|CTNND1_uc001nlu.4_Missense_Mutation_p.S606F|CTNND1_uc001nlt.4_Missense_Mutation_p.S606F|CTNND1_uc001nlv.4_Missense_Mutation_p.S606F|CTNND1_uc001nls.4_Missense_Mutation_p.S606F|CTNND1_uc001nlw.4_Missense_Mutation_p.S606F|CTNND1_uc001nmf.4_Missense_Mutation_p.S713F|CTNND1_uc001nlx.4_Missense_Mutation_p.S390F|CTNND1_uc001nlz.4_Missense_Mutation_p.S390F|CTNND1_uc009ymn.3_Missense_Mutation_p.S384F|CTNND1_uc001nly.4_Missense_Mutation_p.S384F|CTNND1_uc001nmb.4_Missense_Mutation_p.S384F|CTNND1_uc001nma.4_Missense_Mutation_p.S384F|CTNND1_uc001nmd.4_Missense_Mutation_p.S659F|CTNND1_uc001nlk.4_Missense_Mutation_p.S659F|CTNND1_uc001nme.4_Missense_Mutation_p.S707F|CTNND1_uc001nll.4_Missense_Mutation_p.S653F|CTNND1_uc001nlm.4_Missense_Mutation_p.S707F|CTNND1_uc001nmi.4_Missense_Mutation_p.S612F|CTNND1_uc001nmg.4_Missense_Mutation_p.S653F|CTNND1_uc001nmh.4_Missense_Mutation_p.S707F	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	713					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGGCTCTTTCTGCCATAGCT	0.463000														85			4		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476711	140476711	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140476711G>A	uc003lil.3	+	0	2475	c.2337G>A	c.(2335-2337)caG>caA	p.Q779Q	PCDHB2_uc003lim.1_Silent_p.Q440Q	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	779					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTTGCTCAGGGTGCAGAGA	0.478000														120			10		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076818	34076818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34076818C>T	uc001bxm.1	-	40	6343	c.6166G>A	c.(6166-6168)Gag>Aag	p.E2056K	CSMD2_uc001bxn.1_Missense_Mutation_p.E2016K|CSMD2_uc001bxo.1_Missense_Mutation_p.E929K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2016	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)				TGGTTGGGCTCGGTGGAGAAG	0.557000														56			5		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949510	38949510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38949510G>A	uc021wvy.1	-	9	1602	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	468					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAAAGAAGGACTTCCTTTT	0.398000														61			6		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17410329	17410329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17410329C>T	uc001baf.3	-	8	1024	c.942G>A	c.(940-942)atG>atA	p.M314I	PADI2_uc010ocm.2_Missense_Mutation_p.M198I|PADI2_uc001bag.1_Missense_Mutation_p.M314I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	314					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AATTATCCTTCATGCTGAGAA	0.527000														88			8		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40827465	40827465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40827465C>T	uc003ayv.1	-	2	290	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	MKL1_uc010gyf.1_Missense_Mutation_p.R28Q|MKL1_uc003ayw.1_Missense_Mutation_p.R28Q|MKL1_uc010gye.1_Missense_Mutation_p.R28Q	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	28	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACGAATCTTCCGTTTGAGATA	0.483000			T	RBM15	acute megakaryocytic leukemia									307			19		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170488369	170488369	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:170488369C>T	uc002uez.3	+	10	1075	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PPIG_uc010fpx.3_Silent_p.F270F|PPIG_uc010fpy.3_Silent_p.F278F|PPIG_uc002ufa.3_Silent_p.F285F|PPIG_uc002ufb.3_Silent_p.F285F|PPIG_uc002ufd.3_Silent_p.F282F	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	285					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAATAGATTCCTAATGAGAA	0.403000														47			3		0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66626556	66626556	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66626556C>T	uc001ojr.3	+	0	1681	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	447	Fibronectin type-III.					integral to membrane		p.L447L(2)		breast(1)|lung(1)|prostate(1)	3						ATGAGACCCTCATCTACCGGT	0.652000														145			28		0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52054017	52054017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:52054017C>T	uc003pak.1	+	2	440	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	132					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TGCCCCAACTCCTTCCGGCTG	0.597000														54			8		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702837	27702837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:27702837G>A	uc001itu.2	-	0	461	c.343C>T	c.(343-345)Cac>Tac	p.H115Y		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	115					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGTCGGTGTGACAGCGGTGC	0.697000														46			5		0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30080660	30080660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:30080660C>T	uc010veg.2	+	6	1004	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Missense_Mutation_p.L192F|ALDOA_uc002dvw.3_Missense_Mutation_p.L192F|ALDOA_uc002dvz.3_Missense_Mutation_p.L192F|ALDOA_uc002dwa.4_Missense_Mutation_p.L192F|ALDOA_uc002dwc.3_Missense_Mutation_p.L192F	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	192					ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCTGAGATCCTCCCTGATGG	0.597000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		126			7		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143197	56143197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56143197C>T	uc001nit.2	+	0	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CTATTCTTATCCATCTACCTC	0.453000														72			8		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810561	7810561	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7810561G>A	uc002mht.2	-	3	658	c.591C>T	c.(589-591)acC>acT	p.T197T	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	197	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCAGCCGGGTCAGCTCCT	0.567000														131			7		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93515639	93515639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:93515639C>T	uc002bsp.3	+	18	3072	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	CHD2_uc002bso.1_Missense_Mutation_p.P833S|CHD2_uc010bog.1_Missense_Mutation_p.P78S|CHD2_uc010boh.1_Intron	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	833	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAACACTATCCTTTCCAGGT	0.463000														134			9		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719891	95719891	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:95719891G>A	uc009xuj.2	-	0	1782	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TGCCACTGGAGCCTGCTCGCT	0.507000														48			4		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24202038	24202038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24202038C>T	uc021oij.1	-	0	70	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CNR2_uc001bif.3_Missense_Mutation_p.D24N	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	24					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATCATGTAATCCTTCATAGGG	0.537000														202			20		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866434	37866434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37866434C>T	uc002hso.3	+	5	977	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	ERBB2_uc010cwa.3_Missense_Mutation_p.P232S|ERBB2_uc002hsm.3_Missense_Mutation_p.P217S|ERBB2_uc002hsp.3_Missense_Mutation_p.P50S|ERBB2_uc010cwb.3_Missense_Mutation_p.P247S|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.P217S|ERBB2_uc002hsn.1_Missense_Mutation_p.P247S	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	247					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGCACGGGCCCCAAGCACTC	0.642000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				94			6		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73680333	73680333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:73680333C>T	uc001ouo.3	+	6	1514	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	255					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCTAGATGACCGTCTGCTCAA	0.572000														104			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453612	179453612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179453612C>T	uc021vsy.1	-	252	55361	c.55136G>A	c.(55135-55137)gGg>gAg	p.G18379E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G12074E|TTN_uc021vta.1_Missense_Mutation_p.G12007E|TTN_uc021vtb.1_Missense_Mutation_p.G11882E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19306	Fibronectin type-III 33.						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)			TGTTGGAGGCCCTGTGCCTAT	0.418000														24			3		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040497	88040497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:88040497C>T	uc003dqr.2	+	1	756	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	HTR1F_uc021xbd.1_Missense_Mutation_p.L200F	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	200					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GATTTTGATCCTTTACTACAA	0.408000														64			9		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790365	248790365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248790365C>T	uc001ier.1	-	0	65	c.65G>A	c.(64-66)gGg>gAg	p.G22E		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAATACAATCCCGGCAGCCTC	0.537000														79			4		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524035	24524035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:24524035C>T	uc002wtw.1	+	1	935	c.302C>T	c.(301-303)tCc>tTc	p.S101F		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	101					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GTGCTGCGCTCCTGGGGGGAC	0.637000														129			9		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187541949	187541949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:187541949C>T	uc002upq.3	+	29	3353	c.3077C>T	c.(3076-3078)cCa>cTa	p.P1026L	ITGAV_uc010frs.3_Missense_Mutation_p.P990L|ITGAV_uc010zfv.2_Missense_Mutation_p.P980L	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	1026					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CGGGTCCGGCCACCTCAAGAA	0.378000														23			3		0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34214176	34214176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:34214176G>A	uc010zvj.2	-	15	1983	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V	CPNE1_uc002xde.3_Missense_Mutation_p.A510V|CPNE1_uc002xdf.3_Missense_Mutation_p.A534V|CPNE1_uc002xdi.3_Missense_Mutation_p.A534V|CPNE1_uc002xdj.3_Missense_Mutation_p.A534V|CPNE1_uc002xdl.3_Missense_Mutation_p.A534V|CPNE1_uc002xdm.3_Missense_Mutation_p.A534V	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	534					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCCTGGGGGGCCTGTGCAGG	0.617000														144			18		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159682262	159682262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:159682262G>A	uc010kjv.3	+	18	5415	c.5215G>A	c.(5215-5217)Gga>Aga	p.G1739R		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1739	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCATGGCTACGGACCTATCAG	0.333000														65			5		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64692100	64692100	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:64692100C>T	uc001xgl.3	+	115	20810	c.20580C>T	c.(20578-20580)ccC>ccT	p.P6860P	SYNE2_uc001xgm.3_Silent_p.P6838P|SYNE2_uc010apy.3_Silent_p.P3223P|SYNE2_uc001xgn.3_Silent_p.P1799P|SYNE2_uc021rui.1_Missense_Mutation_p.P1804S|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Silent_p.P808P|SYNE2_uc001xgq.3_Silent_p.P1217P|SYNE2_uc001xgr.3_Silent_p.P621P|SYNE2_uc010tsi.2_Silent_p.P495P|SYNE2_uc001xgs.3_Silent_p.P509P|SYNE2_uc001xgt.3_Silent_p.P382P	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6838	KASH.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGCCCTACCCctgcagctgc	0.647000														43			8		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413170	24413170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24413170C>T	uc001bin.4	-	14	1925	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	MYOM3_uc001bim.4_Missense_Mutation_p.E245K|MYOM3_uc001bio.3_Missense_Mutation_p.E588K|MYOM3_uc001bip.1_Missense_Mutation_p.E245K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	588	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCGCTGGGCTCCGAGGGATCG	0.627000														80			10		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21624965	21624965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:21624965C>T	uc004czx.2	+	18	2593	c.2113C>T	c.(2113-2115)Ccc>Tcc	p.P705S	CNKSR2_uc004czw.3_Missense_Mutation_p.P705S|CNKSR2_uc011mjn.2_Missense_Mutation_p.P656S|CNKSR2_uc011mjo.2_Missense_Mutation_p.P675S|CNKSR2_uc004czy.3_Missense_Mutation_p.P297S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	705	Poly-Pro.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TAGCCCTCCACCCCCATATGA	0.413000														29			10		0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90974677	90974677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:90974677G>A	uc001kgc.4	-	8	1404	c.1114C>T	c.(1114-1116)Ccg>Tcg	p.P372S	LIPA_uc001kgb.4_Missense_Mutation_p.P314S|LIPA_uc010qnf.2_Missense_Mutation_p.P175S|LIPA_uc001kga.4_Missense_Mutation_p.P370S|LIPA_uc009xtq.3_Missense_Mutation_p.P370S	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	370					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TCCCATTCCGGAATGCTCTCA	0.463000														66			7		0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998971	8998971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8998971G>A	uc022arp.1	-	0	191	c.191C>T	c.(190-192)tCc>tTc	p.S64F	PPP1R3B_uc003wsn.4_Missense_Mutation_p.S64F|PPP1R3B_uc003wso.4_Missense_Mutation_p.S64F	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	64					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GTCTGCGAAGGACACCCGCTT	0.537000														92			10		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57423538	57423538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:57423538G>A	uc001smw.4	-	24	2950	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	MYO1A_uc010sqz.2_Missense_Mutation_p.R742C|MYO1A_uc009zpd.3_Missense_Mutation_p.R904C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	904					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCATTGCCACGATTGACCTTC	0.597000														213			12		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156294426	156294426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:156294426C>T	uc003ios.3	-	3	607	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	MAP9_uc011cin.2_Missense_Mutation_p.E115K|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.E115K|MAP9_uc010iqb.2_Missense_Mutation_p.E43K	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	115					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GGTGCCATTTCCTCTTCATTT	0.328000														106			9		0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079402	122079402	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:122079402C>T	uc021rff.1	+	1	958	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	253				V -> F (in Ref. 2; BAB55068).	platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TTATCGTCTTCGCCGTCCACT	0.612000														83			11		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232347	117232347	+	Missense_Mutation	SNP	G	A	A	rs35722447		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:117232347G>A	uc003vjd.3	+	13	2258	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	CFTR_uc011knq.2_Missense_Mutation_p.R115Q	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	709					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACTCTATACGAAAATTTTCC	0.383000									Cystic Fibrosis					61			8		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319920	31319920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:31319920C>T	uc010dmg.1	+	10	2607	c.2552C>T	c.(2551-2553)tCa>tTa	p.S851L	ASXL3_uc002kxq.2_Missense_Mutation_p.S558L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACCCTGCTTCAATTCCAGAA	0.388000														26			6		0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14046553	14046553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:14046553C>T	uc002mxr.3	-	4	770	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	PODNL1_uc010xni.2_Missense_Mutation_p.G84R|PODNL1_uc010xnj.2_Missense_Mutation_p.G164R|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	166	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GGCTTCTCCCCAAAGGTGAGG	0.622000														23			3		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124361486	124361486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124361486G>A	uc001lgk.1	+	28	3623	c.3517G>A	c.(3517-3519)Gga>Aga	p.G1173R	DMBT1_uc001lgl.1_Missense_Mutation_p.G1163R|DMBT1_uc001lgm.1_Missense_Mutation_p.G674R|DMBT1_uc021qaf.1_Missense_Mutation_p.G1173R|DMBT1_uc021qag.1_Missense_Mutation_p.G1163R|DMBT1_uc021qah.1_Missense_Mutation_p.G674R|DMBT1_uc009xzz.1_Missense_Mutation_p.G1173R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1173	SRCR 9.				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)				GTCAGCCCCAGGAAATGCCCG	0.602000														362			25		0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280189	110280189	+	Splice_Site	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:110280189G>C	uc001dyo.2	-	8	779	c.469_splice	c.e8-1	p.L157_splice	GSTM3_uc001dyp.2_Splice_Site_p.L154_splice|GSTM3_uc010ovv.2_Splice_Site_p.L157_splice	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	157	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ACAAAGGTGAGCTAGAAGAAA	0.448000														65			8		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	208322	208322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:208322G>A	uc001qhw.2	+	1	565	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	IQSEC3_uc001qhu.1_5'UTR	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	189					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)		GAATGAGACCGTGCTGCACCA	0.637000														37			4		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554712	19554712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:19554712C>T	uc003cbk.1	+	12	2525	c.2330C>T	c.(2329-2331)aCc>aTc	p.T777I	KCNH8_uc010hex.1_Missense_Mutation_p.T238I	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	777						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCCCCAAAACCAAGCAGGAA	0.468000														48			4		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12157500	12157500	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:12157500T>A	uc021upl.1	-	1	245	c.79A>T	c.(79-81)Aat>Tat	p.N27Y	ZNF878_uc002mta.1_Missense_Mutation_p.N74Y	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	27	KRAB.				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						CTGTAGAGATTTTTCTGGGAA	0.473000														159			8		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11400800	11400800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:11400800C>T	uc001mjo.2	-	3	1028	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	203	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTCAGCTTCTCCTTCAGTTCC	0.542000														64			8		0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12633225	12633225	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:12633225G>A	uc001rao.2	-	5	1510	c.747C>T	c.(745-747)tcC>tcT	p.S249S	DUSP16_uc001ran.2_Silent_p.S101S	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	249	Tyrosine-protein phosphatase.				MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGGCGGAGCGGGAGATCCCAG	0.448000														122			12		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485640	60485640	+	Missense_Mutation	SNP	G	A	A	rs139577432	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:60485640G>A	uc002ybn.2	+	8	1439	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	CDH4_uc002ybr.2_Missense_Mutation_p.E414K|CDH4_uc002ybp.2_Missense_Mutation_p.E377K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	451	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGTAACCAACGAGGGCATGGT	0.592000														84			10		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94953647	94953647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94953647C>T	uc001ydj.3	-	5	2034	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	413					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCTTTATTTTCCAATAGGGTT	0.458000														122			16		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34014343	34014343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34014343G>A	uc011kap.2	+	6	897	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	175	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCAGTATCAAGAAGGGGAGGA	0.483000														140			15		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067835	43067835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:43067835G>A	uc001zqo.2	-	12	1935	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	TTBK2_uc010bcy.2_Missense_Mutation_p.S430F	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	499					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTCAGTACGGGACACAGCAGG	0.507000														119			5		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175041	63175041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:63175041C>T	uc001xfx.3	-	10	2203	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	718					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCGCAGCTCCTTCTGCTGC	0.577000														118			6		0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193218892	193218892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:193218892C>T	uc001gtb.3	+	15	1693	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	484					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.R484L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGATGAAGTTCGTCTGGATCC	0.338000														45			3		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102739	34102739	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:34102739C>T	uc001zhi.3	+	70	10156	c.10086C>T	c.(10084-10086)atC>atT	p.I3362I	RYR3_uc010bar.3_Silent_p.I3357I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3362					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3361S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTATTCCATCCAGACCTCCC	0.512000														44			4		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794487	15794487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15794487C>T	uc002nbl.3	+	6	951	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCGTCGCACCCTCCCCACTCA	0.527000														104			14		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764950	184764950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:184764950C>T	uc001gra.3	-	13	2142	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	650					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCAGTCCCATCTGGGGGTGGG	0.562000														78			9		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108603974	108603974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:108603974G>A	uc001tms.3	+	3	1318	c.574G>A	c.(574-576)Gag>Aag	p.E192K	WSCD2_uc001tmt.3_Missense_Mutation_p.E192K	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	192	WSC 1.					integral to membrane		p.E192K(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACGTGAGCGAGGCAGAGTG	0.677000														54			8		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804462	27804462	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27804462C>T	uc002rkz.4	+	0	5074	c.5023C>T	c.(5023-5025)Cag>Tag	p.Q1675*	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1675	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.S1674F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCCCAGAGGAGCCA	0.572000														274			17		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101052308	101052308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101052308G>A	uc003yjb.1	-	12	2141	c.1946C>T	c.(1945-1947)aCc>aTc	p.T649I	RGS22_uc003yja.1_Missense_Mutation_p.T468I|RGS22_uc003yjc.1_Missense_Mutation_p.T637I|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.T553I|RGS22_uc022azf.1_Missense_Mutation_p.T38I	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	649					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTGACACGGTTTTAACCTA	0.348000														31			4		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631717	51631718	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51631717_51631718GG>AA	uc010yct.2	+	5	1248_1249	c.1153_1154GG>AA	c.(1153-1155)gga>AAa	p.G385K	SIGLEC9_uc002pvu.3_Missense_Mutation_p.G385K	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	385					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGCGGGCGTGGGAGATACGGGC	0.589000														130			14		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914303	117914303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:117914303G>A	uc001two.2	-	16	2516	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	850	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGAGAAGGGGAGCTTATCC	0.602000														12			4		0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153062007	153062007	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:153062007G>A	uc004fiv.3	+	3	337	c.219_splice	c.e3+1	p.Q73_splice	IDH3G_uc004fip.3_5'Flank|IDH3G_uc004fiq.3_5'Flank|IDH3G_uc004fit.1_5'Flank|SSR4_uc022chw.1_Splice_Site_p.Q70_splice|SSR4_uc022chx.1_Splice_Site|SSR4_uc004fiw.3_Splice_Site_p.Q62_splice	NM_001204526	NP_001191455	P51571	SSRD_HUMAN	Homo sapiens signal sequence receptor, delta (SSR4), transcript variant 1, mRNA.	62					intracellular protein transport	Sec61 translocon complex|integral to membrane	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGGTCCAGGTGAGACAGT	0.547000														89			27		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172745135	172745135	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:172745135C>T	uc003mco.1	-	3	1934	c.624G>A	c.(622-624)ttG>ttA	p.L208L	STC2_uc003mcn.1_Silent_p.L123L	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	208					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	p.I207T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCAGAAGCTCAAGATGGAGC	0.642000														33			3		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961673	73961673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:73961673C>T	uc004eby.3	-	2	3336	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	907					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						GGGGCTATCTCCCTTGAGACT	0.443000														12			3		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100282	121100282	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121100282C>T	uc003eec.4	+	22	2702	c.2562C>T	c.(2560-2562)ttC>ttT	p.F854F	STXBP5L_uc011bji.2_Silent_p.F830F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	854					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)		CTTGTCTGTTCGTTGGAACCA	0.413000														169			16		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918410	11918410	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11918410G>A	uc001atj.3	-	1	351	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	83					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	TGCCCTCGGTGGCTACCTCCC	0.642000														68			4		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70573452	70573452	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:70573452G>A	uc001dep.3	+	23	4479	c.4449G>A	c.(4447-4449)agG>agA	p.R1483R	LRRC7_uc009wbg.3_Silent_p.R767R|LRRC7_uc001deq.3_Silent_p.R677R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1483	PDZ.					centrosome|focal adhesion|nucleolus	protein binding	p.T1482S(1)		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						TTGTTACTAGGGTTCAGCCTG	0.408000														100			7		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993860	176993860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176993860G>A	uc001glc.3	-	5	1341	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	ASTN1_uc001glb.1_Missense_Mutation_p.P377S|ASTN1_uc001gld.1_Missense_Mutation_p.P377S|ASTN1_uc009wwx.1_Missense_Mutation_p.P377S|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	377					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						GGACTTCGGGGAGAACCCACT	0.498000														43			3		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68181170	68181170	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:68181170C>T	uc001ont.3	+	11	2592	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V	LRP5_uc009ysg.3_Silent_p.V249V	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	839	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.R838W(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGAGCGGGTCGTGATTGCCG	0.612000														114			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3019773	3019773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:3019773G>A	uc022aqr.1	-	37	6142	c.5752C>T	c.(5752-5754)Cca>Tca	p.P1918S	CSMD1_uc011kwj.2_Missense_Mutation_p.P1311S|CSMD1_uc003wqe.3_Missense_Mutation_p.P1075S|CSMD1_uc010lrg.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1919	Sushi 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGAGGGCTGGTTCTTGGCAT	0.448000														19			3		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52912969	52912969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:52912969G>A	uc001jjm.3	+	1	540	c.312G>A	c.(310-312)atG>atA	p.M104I	PRKG1_uc001jjn.2_Missense_Mutation_p.M119I|PRKG1_uc001jjo.3_Missense_Mutation_p.M119I|PRKG1_uc010qhp.2_Missense_Mutation_p.M104I	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	104					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)		ATGACTTTATGAAGAACTTGG	0.448000														71			6		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717256	142717256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:142717256C>T	uc022cfm.1	-	0	1669	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	SLITRK4_uc022cfl.1_Missense_Mutation_p.E557K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E557K|SLITRK4_uc004fby.3_Missense_Mutation_p.E557K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	557	LRRCT 2.					integral to membrane		p.E557*(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CATTTCAGTTCTTTCACAACA	0.448000														62			14		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538365	55538365	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55538365A>G	uc003xsd.1	+	3	2071	c.1923A>G	c.(1921-1923)agA>agG	p.R641R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	641					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)			TCACTGCAAGAATTGACAGAC	0.353000														39			5		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147902871	147902871	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:147902871T>C	uc021yfj.1	-	3	439	c.392A>G	c.(391-393)aAc>aGc	p.N131S	HTR4_uc021yfg.1_Missense_Mutation_p.N131S|HTR4_uc021yfh.1_Missense_Mutation_p.N131S|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.N131S|HTR4_uc011dby.1_Missense_Mutation_p.N131S|HTR4_uc003lpn.3_Missense_Mutation_p.N131S|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.N131S	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	131					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGTCATCTTGTTCCTATAGAC	0.498000														23			4		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326952	28326952	+	Silent	SNP	G	A	A	rs138611712	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28326952G>A	uc001zbh.4	-	1	179	c.69C>T	c.(67-69)tcC>tcT	p.S23S	OCA2_uc010ayv.3_Silent_p.S23S	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	23					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGCTGGGCACGGACGTCTGCA	0.711000									Oculocutaneous Albinism					30			3		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45717523	45717523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:45717523C>T	uc003tne.4	+	8	1679	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	554					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCTTTTTCTACCAACGTTGTC	0.512000														120			8		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113316994	113316994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113316994G>A	uc003ynu.3	-	51	8381	c.8222C>T	c.(8221-8223)cCt>cTt	p.P2741L	CSMD3_uc003yns.3_Missense_Mutation_p.P1943L|CSMD3_uc003ynt.3_Missense_Mutation_p.P2701L|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2741	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTACCATTAGGAAGACATTC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				81			8		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77327087	77327087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77327087G>A	uc001xsx.2	+	10	1270	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	C14orf166B_uc010asn.1_Missense_Mutation_p.V146I|C14orf166B_uc001xsw.2_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	386										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGTGTATGCCGTTCACCCGCA	0.532000														100			9		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161016404	161016404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161016404C>T	uc003qtl.3	-	21	3571	c.3451G>A	c.(3451-3453)Gag>Aag	p.E1151K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3659	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAAGAAGCCTCTGTGCTTGGA	0.493000														99			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049005	9049005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9049005C>T	uc002mkp.3	-	4	32830	c.32626G>A	c.(32626-32628)Gga>Aga	p.G10876R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10878	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						GTCACTACTCCTGGTACCTCA	0.468000														70			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107049075	107049075	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:107049075C>T	uc021ser.1	-	168		c.7052_splice	c.e168+1							Parts of antibodies, mostly variable regions.																		CATGAATCACCTTTTAAAATA	0.443000														193			27		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141571369	141571369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141571369G>A	uc002tvj.1	-	31	6188	c.5216C>T	c.(5215-5217)tCg>tTg	p.S1739L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1739					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)		ATAGTCTATCGATAGACCTGT	0.343000										TSP Lung(27;0.18)				38			3		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31312028	31312028	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:31312028G>A	uc010dmg.1	+	9	1031	c.976_splice	c.e9+1	p.G326_splice	ASXL3_uc002kxq.2_Splice_Site_p.G33_splice	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTGGCAGAAGGTAAATTTGT	0.393000														71			5		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710616	18710616	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18710616G>A	uc010ebt.2	-	1	350	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	52	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGAGGAGCCGATGAGAAGCG	0.672000														12			6		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515026	149515026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149515026G>A	uc010lpk.3	+	79	11407	c.11407G>A	c.(11407-11409)Gac>Aac	p.D3803N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3806					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCCTGGACGACTGCTTCGA	0.692000														103			11		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351858	98351858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:98351858C>T	uc002syd.1	+	9	1435	c.1228C>T	c.(1228-1230)Ctc>Ttc	p.L410F	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.L300F|ZAP70_uc002syf.1_Missense_Mutation_p.L103F	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	410	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCCGAGGCCCTCATGCTGGT	0.667000														217			10		0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87005030	87005030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87005030C>T	uc003uiu.3	+	8	1068	c.823C>T	c.(823-825)Cga>Tga	p.R275*	CROT_uc003uit.3_Nonsense_Mutation_p.R247*	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	247					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GGAGCGAACTCGATGGGCTAA	0.373000														81			6		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29420510	29420510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29420510G>A	uc002rmy.3	-	26	4923	c.3971C>T	c.(3970-3972)tCt>tTt	p.S1324F	ALK_uc010ymo.2_Missense_Mutation_p.S256F	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1324	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ATATCCAAGAGAAAAGATTTC	0.527000			"""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					95			7		0	0	1	0	0
C5orf64	285668	broad.mit.edu	37	5	60982870	60982870	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:60982870G>A	uc003jst.1	+	2	273	c.198G>A	c.(196-198)tcG>tcA	p.S66S	BC043229_uc003jsu.1_Intron|BC043229_uc010iwo.2_Intron|BC043229_uc003jsv.3_Intron	NM_173667	NP_775938	Q2M2E5	CE064_HUMAN	Homo sapiens chromosome 5 open reading frame 64 (C5orf64), mRNA.	66						extracellular region				breast(1)	1						CAATCAAATCGAGATCACATC	0.418000														64			4		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49676846	49676846	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:49676846T>A	uc003ozn.2	-	3	300	c.64A>T	c.(64-66)Aag>Tag	p.K22*	CRISP2_uc003ozr.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozo.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozm.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozp.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozq.2_Nonsense_Mutation_p.K22*|CRISP2_uc003ozl.2_Nonsense_Mutation_p.K22*	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	22						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AACCTTACCTTTCCTTCTGCA	0.413000														63			8		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651513	84651513	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84651513C>T	uc002bjz.4	+	20	3357	c.3133C>T	c.(3133-3135)Ctg>Ttg	p.L1045L	ADAMTSL3_uc010bmt.1_Silent_p.L1045L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1045						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGACCTTTATCTGGATGATGA	0.448000														73			5		0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34660508	34660508	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:34660508G>A	uc003zvi.3	+	10	2436	c.1080G>A	c.(1078-1080)agG>agA	p.R360R	IL11RA_uc011loq.2_Silent_p.R360R|IL11RA_uc003zvj.3_Silent_p.R360R|IL11RA_uc003zvk.3_Silent_p.R360R|IL11RA_uc010mke.3_Silent_p.R242R	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	360						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CAGATCACAGGGACTCTGTGG	0.577000														45			4		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559373	7559373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7559373C>T	uc010sge.2	-	4	898	c.872G>A	c.(871-873)gGa>gAa	p.G291E	CD163L1_uc001qsy.3_Missense_Mutation_p.G281E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	281	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCCACCTTCCTTGGATTTT	0.478000														80			5		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105162876	105162876	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:105162876C>T	uc001kwy.1	+	4	322	c.235_splice	c.e4-1	p.S79_splice		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	79					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCTTCTAGTCCCTGTGTGAG	0.448000														179			15		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405798	113405798	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113405798C>T	uc001tug.3	+	13	3010	c.2923C>T	c.(2923-2925)Ctg>Ttg	p.L975L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	975	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						GCTGGAACTCCTGACTGTGTA	0.582000														67			5		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43607032	43607032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43607032G>A	uc003bdt.2	-	17	2406	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	760					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTGCCGACGGGGCAGCGGAT	0.652000														71			5		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173531	126173531	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126173531G>A	uc003vlr.2	-	7	2216	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I635I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	635					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTAAAAACGTGATTGAATAAC	0.468000										HNSCC(24;0.065)				45			4		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262875	248262875	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248262875C>T	uc001ids.3	+	2	535	c.198C>T	c.(196-198)tcC>tcT	p.S66S	OR2L13_uc021pmc.1_Silent_p.S66S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCAGCTCTCCCTTATGGACC	0.537000														172			5		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033046	52033046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52033046C>T	uc002pwy.3	-	4	1152	c.944G>A	c.(943-945)gGa>gAa	p.G315E	SIGLEC6_uc002pwz.3_Missense_Mutation_p.G299E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G263E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G326E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G315E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G304E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G304E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G268E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	315	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGTGAAATCTCCTTCTTCTGC	0.602000														47			6		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20033087G>A	uc002wrs.3	-	1	415	c.383C>T	c.(382-384)tCc>tTc	p.S128F	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S116F	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000														79			20		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345370	53345370	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53345370C>A	uc001sbe.3	+	4	832	c.763C>A	c.(763-765)Caa>Aaa	p.Q255K	KRT18_uc009zmn.2_Missense_Mutation_p.Q255K|KRT18_uc001sbg.3_Missense_Mutation_p.Q255K|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	255	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	p.A254A(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CATCCGGGCCCAATATGACGA	0.587000														52			3		1	1	1	1	0
HRASLS5	117245	broad.mit.edu	37	11	63233701	63233701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63233701C>T	uc001nwy.2	-	4	802	c.628G>A	c.(628-630)Gac>Aac	p.D210N	HRASLS5_uc001nwz.2_Missense_Mutation_p.D200N|HRASLS5_uc010rmq.1_Missense_Mutation_p.D210N|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	210										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATGATCTTGTCCACCGGCAAG	0.512000														65			7		0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9588787	9588787	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:9588787G>A	uc002koe.1	-	4	478	c.360C>T	c.(358-360)aaC>aaT	p.N120N	PPP4R1_uc010wzo.1_Silent_p.N77N|PPP4R1_uc002kod.1_Silent_p.N103N|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	120					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTGAAGGCCGGTTTTCTTGAC	0.393000														66			6		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113114708	113114708	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:113114708C>T	uc003ead.2	-	15	1847	c.1780_splice	c.e15-1	p.S594_splice	WDR52_uc003eae.2_Splice_Site_p.S594_splice	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	594										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GATCTTTACTCTAAGGAAAAA	0.343000														32			3		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17778931	17778931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17778931C>T	uc021uqk.1	-	5	505	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	155					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACTTCATCCTGGTCCCGC	0.522000														48			4		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350389	100350389	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100350389C>T	uc003uwj.3	+	13	2826	c.2661C>T	c.(2659-2661)atC>atT	p.I887I	ZAN_uc003uwk.3_Silent_p.I887I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	887	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCATTGAAG	0.502000														138			18		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325417	152325417	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152325417C>T	uc001ezw.4	-	2	4918	c.4845G>A	c.(4843-4845)gaG>gaA	p.E1615E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1615							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCGTGTCTCTCATGAACTG	0.522000														225			11		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11376073	11376073	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:11376073G>A	uc002rbd.1	-	4	927	c.478C>T	c.(478-480)Caa>Taa	p.Q160*		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	160	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTATCATCTTGAAAGGCATAA	0.308000														47			6		0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341758	179341758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:179341758C>T	uc003fkc.3	+	5	529	c.500C>T	c.(499-501)cCc>cTc	p.P167L	NDUFB5_uc021xhu.1_Silent_p.T131T|NDUFB5_uc003fke.3_Missense_Mutation_p.P115L|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	167					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GGAGATGGACCCTGGTATTAC	0.368000														121			9		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691234	7691234	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7691234C>T	uc002giu.1	+	41	6674	c.6660C>T	c.(6658-6660)tcC>tcT	p.S2220S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2220	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACTGTATCCCGCTGCGGGA	0.532000														49			6		0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600332	54600332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54600332G>A	uc002qdd.3	-	3	382	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	OSCAR_uc002qcy.3_Missense_Mutation_p.L68F|OSCAR_uc002qcz.3_Missense_Mutation_p.L64F|OSCAR_uc002qda.3_Missense_Mutation_p.L68F|OSCAR_uc002qdb.3_Missense_Mutation_p.L53F|OSCAR_uc010erc.3_Missense_Mutation_p.T31I|OSCAR_uc002qdc.3_Missense_Mutation_p.L78F|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	64	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGCTTGAAAAGTCCAAATCTC	0.592000														138			12		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857758	28857758	+	Missense_Mutation	SNP	C	T	T	rs78786238		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:28857758C>T	uc003szq.3	+	9	1715	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L	CREB5_uc003szo.3_Missense_Mutation_p.P409L|CREB5_uc003szr.3_Missense_Mutation_p.P435L|CREB5_uc003szs.3_Missense_Mutation_p.P303L	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	442					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AAAGACTGCCCAATAACAGCC	0.363000														97			13		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041443	86041443	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:86041443C>T	uc003ycw.3	+	9	1663	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Silent_p.S392S|LRRCC1_uc010maa.2_Silent_p.S186S|LRRCC1_uc003ycy.3_Silent_p.S465S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	485					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAGAAATTCCAAAGGACAAC	0.294000														155			9		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323023	31323023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:31323023G>A	uc003jhe.2	+	11	2341	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D661N(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGTTACAACGACGAAGGTGG	0.488000														61			5		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154197700	154197700	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154197700C>T	uc004fmt.3	-	6	1086	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	305	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCGAGATTTCCAAGGACGCCT	0.448000														63			8		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9784840	9784840	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9784840C>T	uc003bse.3	+	6	2595	c.2196C>T	c.(2194-2196)gcC>gcT	p.A732A	BRPF1_uc003bsf.3_Silent_p.A738A|BRPF1_uc003bsg.3_Silent_p.A732A|BRPF1_uc011ati.2_Silent_p.A732A	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	732	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCCGCCAGGCCCGGCGCCAGG	0.587000														65			6		0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260594	35260594	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35260594G>A	uc009vul.3	+	1	1032	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	GJA4_uc001bya.3_Silent_p.T260T|GJA4_uc009vum.1_Silent_p.T260T|GJA4_uc021olb.1_Silent_p.T260T	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	260					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)				ACCCTTACACGGACCAGGTCT	0.652000														30			3		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185902907	185902907	+	Silent	SNP	T	A	A	rs140611904		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:185902907T>A	uc001grq.1	+	10	2008	c.1779T>A	c.(1777-1779)gtT>gtA	p.V593V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	593	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTATGGTTTCTAGTGAAG	0.433000														100			6		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846720	55846720	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55846720C>T	uc001sgz.1	+	0	723	c.723C>T	c.(721-723)tcC>tcT	p.S241S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTGTTCATCCCACATGATTG	0.418000														56			7		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087125	49087125	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:49087125G>A	uc001rsd.4	-	8	2195	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S	CCNT1_uc009zkz.2_Silent_p.S339S|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	624	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCTGTGAAAAGGAAAGGCCAC	0.488000														54			3		0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79856296	79856296	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:79856296A>G	uc003hlp.1	-	1	531	c.327T>C	c.(325-327)tcT>tcC	p.S109S	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	109						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AAAGACAAATAGAACAAATTA	0.403000														238			24		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223401022	223401022	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:223401022G>A	uc001hnx.3	-	5	1609	c.975C>T	c.(973-975)ttC>ttT	p.F325F	SUSD4_uc001hny.4_Silent_p.F325F|SUSD4_uc010puw.2_Silent_p.F165F	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	325						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGTTGCCGTGAACGCCACAA	0.587000														42			3		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572837	11572837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11572837C>T	uc002gne.3	+	16	3147	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	DNAH9_uc010coo.3_Nonsense_Mutation_p.Q321*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1027	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTTCTGGGTCAGTTTCTGCT	0.522000														81			8		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260126	28260126	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28260126C>T	uc009xky.3	-	7	1151	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Silent_p.L43L|ARMC4_uc001itz.3_Silent_p.L351L|ARMC4_uc010qdu.1_Silent_p.L43L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	351							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGTTCTTCTCCAGTGACCTTT	0.428000														58			3		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52360782	52360782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52360782G>A	uc003joy.3	+	13	1786	c.1643G>A	c.(1642-1644)gGc>gAc	p.G548D	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G472D|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	548					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGCCCCGAGGGCATTGAAAAC	0.398000														74			9		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739953	38739953	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38739953C>T	uc003ciq.3	-	26	4758	c.4758G>A	c.(4756-4758)ctG>ctA	p.L1586L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1586					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)	CCGCTCGGATCAGTCTGAGGA	0.527000														108			6		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581470	232581470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:232581470G>A	uc001hvg.3	-	8	3316	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.P127L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1053					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATACTCGCAGGGGGTGCCCTC	0.597000														183			9		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000424	219000424	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219000424G>A	uc002vgz.2	+	3	1110	c.900G>A	c.(898-900)gaG>gaA	p.E300E	CXCR2_uc002vha.2_Silent_p.E300E|CXCR2_uc002vhb.2_Silent_p.E300E|CXCR2_uc021vwp.1_Silent_p.E300E	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	300					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	p.T299T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATGCCACCGAGATTCTGGGCA	0.567000														83			9		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69666657	69666657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:69666657G>A	uc010kak.3	+	6	1757	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	BAI3_uc003pev.4_Missense_Mutation_p.G494E	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	494	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAATGTGAAGGAACGGGCGAA	0.473000														62			10		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637282	39637282	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39637282C>A	uc002hws.3	-	0	111	c.68G>T	c.(67-69)gGg>gTg	p.G23V		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	23	Head.				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)				AGTGGAGCCCCCACTGGCCCC	0.577000														110			10		2.32078e-09	2.34521e-09	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:21036450G>A	uc010sil.2	+	10	1661	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	SLCO1B3_uc001rek.3_Silent_p.R532R|SLCO1B3_uc001rel.3_Silent_p.R532R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000														61			6		0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33583681	33583681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:33583681C>T	uc009vug.3	+	7	1340	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	ADC_uc001bwr.3_Missense_Mutation_p.A403V|ADC_uc001bws.3_Missense_Mutation_p.A403V|ADC_uc009vue.3_Missense_Mutation_p.A403V|ADC_uc001bwt.1_Missense_Mutation_p.A308V|ADC_uc001bwu.3_Missense_Mutation_p.A308V|ADC_uc001bwv.3_Missense_Mutation_p.A308V|ADC_uc001bwx.1_Missense_Mutation_p.A380V	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	403					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GGGACCCAGGCCTGCCACATC	0.612000														47			7		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135053	33135053	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:33135053G>A	uc003ocx.1	-	56	4392	c.4164C>T	c.(4162-4164)ccC>ccT	p.P1388P	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P1302P|COL11A2_uc003ocz.1_Silent_p.P1281P	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1388	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGACCTGGGGGCCCAGCCT	0.657000														88			6		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186002	114186002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:114186002C>T	uc003ynu.3	-	3	817	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CSMD3_uc003ynt.3_Missense_Mutation_p.A180T|CSMD3_uc011lhx.2_Missense_Mutation_p.A220T|CSMD3_uc010mcx.1_Missense_Mutation_p.A220T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	220	Sushi 1.					integral to membrane|plasma membrane		p.A220D(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						ACTGAATTGGCTATGCAGGTG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				94			4		0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44762533	44762533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:44762533C>T	uc011baa.2	+	3	479	c.224C>T	c.(223-225)tCa>tTa	p.S75L	ZNF502_uc003cns.3_Missense_Mutation_p.S75L|ZNF502_uc011bab.2_Missense_Mutation_p.S75L|ZNF502_uc003cnt.3_Missense_Mutation_p.S75L	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATTGCTGAATCATGCCTTTTC	0.388000														63			7		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2308916	2308916	+	Missense_Mutation	SNP	C	T	T	rs142429871		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2308916C>T	uc002wfx.4	+	8	1335	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	413					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGAAGAATTCCGTGAACAGT	0.542000														89			9		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78925574	78925574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:78925574G>A	uc004akc.2	+	28	4148	c.3610G>A	c.(3610-3612)Gca>Aca	p.A1204T		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	859					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATTTCTAGGTGCATATCTTCT	0.498000														35			4		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335667	115335667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:115335667C>T	uc001lai.4	+	3	338	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	HABP2_uc021pyr.1_Missense_Mutation_p.P53S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.S67S	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	79	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCCATGCCAGCCCAACCCCTG	0.522000														312			13		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248524937	248524937	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248524937A>T	uc001ieh.1	+	0	55	c.55A>T	c.(55-57)Atg>Ttg	p.M19L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCATCCTGATGGGACTCTT	0.488000														54			3		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427604	37427604	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:37427604G>A	uc001uvw.3	-	5	1555	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	SMAD9_uc001uvx.3_Silent_p.V367V|SMAD9_uc010tep.2_Silent_p.V197V	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	404	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GTTCATACACGACTTCAAAGC	0.473000														80			5		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941280	52941280	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52941280G>A	uc003dgf.3	-	19	2759	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	SFMBT1_uc010hmr.3_Silent_p.S659S|SFMBT1_uc003dgg.3_Silent_p.S712S|SFMBT1_uc003dgh.3_Silent_p.S712S	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	712					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTTCACTTAGGGAATCATCAT	0.473000														85			8		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834065	125834065	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:125834065G>A	uc001uhe.1	+	1	128	c.120G>A	c.(118-120)acG>acA	p.T40T	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	40						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTCCCCACGAACTTGCACA	0.502000														218			21		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782392	6782392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:6782392G>A	uc003wqt.3	-	1	292	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	84					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGTCCCATAGGAATATTCTGT	0.443000														99			7		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816614	67816614	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67816614C>T	uc001one.3	+	14	1869	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L	TCIRG1_uc001ong.3_Silent_p.L364L|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	580					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGCTGGGACTCTTCGGTTACC	0.627000														146			13		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77862314	77862314	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:77862314G>A	uc021rks.1	-	2	843	c.576C>T	c.(574-576)ccC>ccT	p.P192P	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTGATAGGGGGCTCTTTGG	0.408000														156			13		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707656	96707656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:96707656G>A	uc010avm.1	+	2	1187	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.V304M|BDKRB2_uc001yfg.2_Missense_Mutation_p.V331M	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	331					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CAACCCACTGGTGTACGTGAT	0.572000														59			14		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740699	62740699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:62740699G>A	uc001dah.4	-	2	454	c.77C>T	c.(76-78)tCt>tTt	p.S26F	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	26										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTCTCCACAGAATAAGGGTG	0.438000														113			13		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540176	28540176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:28540176C>T	uc003nlo.3	-	3	4108	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1164					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttacctacttcattgataatt	0.279000														5			3		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3604312	3604312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3604312G>A	uc010btn.3	-	8	2609	c.2198C>T	c.(2197-2199)aCc>aTc	p.T733I	NLRC3_uc010bto.1_5'UTR	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	733					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCCTAACGGTGTTGCCCTG	0.592000														37			4		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4800889	4800889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4800889C>T	uc003snc.1	+	7	1901	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S	FOXK1_uc003sna.1_Missense_Mutation_p.P468S	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	631					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCATGCGGTTCCCACGAACAG	0.637000														48			4		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71654450	71654450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:71654450G>A	uc001jql.3	+	10	1159	c.623G>A	c.(622-624)gGa>gAa	p.G208E	COL13A1_uc021prz.1_Missense_Mutation_p.G208E|COL13A1_uc021psa.1_Missense_Mutation_p.G170E|COL13A1_uc021psb.1_Missense_Mutation_p.G179E|COL13A1_uc001jqk.2_Missense_Mutation_p.G208E|COL13A1_uc021psc.1_Missense_Mutation_p.G208E|COL13A1_uc021psd.1_Missense_Mutation_p.G208E|COL13A1_uc010qjf.2_Missense_Mutation_p.G170E|COL13A1_uc021pse.1_Missense_Mutation_p.G179E|COL13A1_uc021psf.1_Missense_Mutation_p.G208E|COL13A1_uc021psg.1_Missense_Mutation_p.G208E|COL13A1_uc021psh.1_Missense_Mutation_p.G208E	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	208	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.G191E(1)|p.G208E(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGACAAAAAGGAGAAAAGGTA	0.463000														99			7		0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114249075	114249075	+	Silent	SNP	C	T	T	rs143961112	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:114249075C>T	uc004epx.3	-	3	434	c.309G>A	c.(307-309)gcG>gcA	p.A103A	IL13RA2_uc010nqd.1_Silent_p.A103A|IL13RA2_uc022cdb.1_Silent_p.A103A	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	103	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.A103V(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTGTATCTTCGCTTCAATGC	0.373000														50			5		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74512931	74512931	+	Missense_Mutation	SNP	C	T	T	rs144161107		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74512931C>T	uc002sko.1	-	2	372	c.370G>A	c.(370-372)Gga>Aga	p.G124R	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G124R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G124R|SLC4A5_uc002skp.1_Missense_Mutation_p.G60R|SLC4A5_uc002sks.1_Missense_Mutation_p.G124R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	124						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G124R(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATCTGGTCTCCGTCATGCTGC	0.622000														50			5		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:140995048G>A	uc004fbt.3	+	3	2182	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E279K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	620							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)				148			34		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636081	7636081	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7636081C>T	uc001qsz.3	-	11	3098	c.2970G>A	c.(2968-2970)ccG>ccA	p.P990P	CD163_uc001qta.3_Silent_p.P990P|CD163_uc009zfw.2_Silent_p.P1023P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	990	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.P990P(2)		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						TGAGCCATATCGGTCCAGTCC	0.522000														54			6		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7225034	7225034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7225034C>T	uc002gga.1	-	17	2951	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	GPS2_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|GPS2_uc002ggb.1_Missense_Mutation_p.E980K|GPS2_uc002ggc.1_Missense_Mutation_p.E328K	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGTCCCATCTCCCCCGGTGCT	0.612000														63			4		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508066	37508066	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37508066G>A	uc021ppc.1	+	33	3357	c.3258G>A	c.(3256-3258)aaG>aaA	p.K1086K	ANKRD30A_uc001iza.1_Silent_p.K1086K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1142						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K1086M(1)		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						TAAAAGAAAAGAATGCTGAAC	0.353000														74			5		0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230417	155230417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155230417G>A	uc001fjs.3	-	2	412	c.178C>T	c.(178-180)Cca>Tca	p.P60S	SCAMP3_uc001fjt.3_Missense_Mutation_p.P34S	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	60					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGGCAATGGGGCAGGGGCT	0.537000														105			9		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685586	47685586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47685586C>T	uc001cqx.2	-	3	1379	c.802G>A	c.(802-804)Gga>Aga	p.G268R	TAL1_uc009vyq.2_Silent_p.V24V|TAL1_uc001cqy.2_Missense_Mutation_p.G268R	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	268	Poly-Gly.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						cccccacctccacccccaccA	0.672000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									26			5		0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109321928	109321928	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:109321928C>T	uc001dvy.3	+	8	780	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	235	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATTCACAGCTCTTAATAATTG	0.348000														145			14		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33767741	33767741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:33767741C>T	uc002hjk.1	-	3	2897	c.2567G>A	c.(2566-2568)cGa>cAa	p.R856Q	SLFN13_uc010wch.1_Missense_Mutation_p.R856Q|SLFN13_uc002hjl.2_Missense_Mutation_p.R856Q|SLFN13_uc002hjm.2_Missense_Mutation_p.R525Q|SLFN13_uc010ctt.2_Missense_Mutation_p.R538Q	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	856						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCTGAGAATCGCCGGACACT	0.493000														206			19		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195595280	195595280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:195595280G>A	uc003fvu.1	-	11	2387	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	TNK2_uc003fvq.1_Missense_Mutation_p.P22L|TNK2_uc003fvr.1_Missense_Mutation_p.P140L|TNK2_uc003fvs.1_Missense_Mutation_p.P647L|TNK2_uc003fvt.1_Missense_Mutation_p.P693L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	615	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGTGCAGGGGCCGGGGCAG	0.731000														40			8		0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18950914	18950914	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:18950914G>A	uc003zni.2	-	1	410	c.60C>T	c.(58-60)ctC>ctT	p.L20L	FAM154A_uc010mip.2_5'UTR	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	20										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCTTGGTAGGGAGATGTGGAC	0.428000														63			11		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589760	140589760	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140589760G>A	uc003liz.3	+	0	1470	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	PCDHB12_uc011dak.2_Silent_p.G90G	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	427	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			CCGACTTGGGGACCCCCAGGC	0.532000														118			22		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11240292	11240292	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11240292C>T	uc002mqk.4	+	16	2680	c.2493C>T	c.(2491-2493)acC>acT	p.T831T	LDLR_uc010xlk.2_Silent_p.T831T|LDLR_uc010xll.2_Silent_p.T790T|LDLR_uc021upc.1_Silent_p.T710T|LDLR_uc010xln.2_Silent_p.T653T|LDLR_uc010xlo.2_Silent_p.T663T|LDLR_uc010xlm.2_Silent_p.T684T|LDLR_uc021upd.1_Silent_p.T568T|LDLR_uc010dxu.3_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	831	Required for MYLIP-triggered down- regulation of LDLR.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	ATCAGAAGACCACAGAGGATG	0.552000														123			7		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588338	31588338	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31588338G>A	uc002rnv.1	-	22	2608	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	843					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATCTGGCCAGGAAGGGATGTC	0.582000														174			10		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47147570	47147570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:47147570G>A	uc003cqv.3	-	5	4809	c.4723C>T	c.(4723-4725)Cat>Tat	p.H1575Y	SETD2_uc003cqs.3_Missense_Mutation_p.H1586Y	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1586	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACTCTTTATGATCGAGTACC	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma									61			10		0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518964	129518964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:129518964C>T	uc011muv.2	-	0	548	c.458G>A	c.(457-459)gGg>gAg	p.G153E		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	153						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GCTGCACTGCCCTTTGTAGGC	0.557000														33			8		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715217	55715217	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55715217A>G	uc010spi.2	+	0	834	c.834A>G	c.(832-834)tcA>tcG	p.S278S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TAAACACCTCAGTAGCCCCCA	0.413000														124			8		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304166	3304166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:3304166G>A	uc002cun.1	-	1	942	c.902C>T	c.(901-903)tCg>tTg	p.S301L	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	301					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.S301S(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	accggtgacCGAATGTTCTGG	0.562000														47			3		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793909	38793909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38793909C>T	uc003ciq.3	-	10	1556	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	519					sensory perception	voltage-gated sodium channel complex		p.G519R(1)		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)	ATCTGTGACTCCCTCAGGGAG	0.607000														42			8		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844653	40844653	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40844653C>T	uc002iay.3	+	16	2883	c.2667C>T	c.(2665-2667)ctC>ctT	p.L889L	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	889	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGGCCCGGCTCCGAGTGGATC	0.567000														111			10		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124273720	124273720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124273720G>A	uc001lgj.2	+	8	1416	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	430	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGGTCTCAAGGAAAACGACGT	0.488000														356			20		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13168489	13168489	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:13168489G>A	uc010mia.1	-	20	3187	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	MPDZ_uc003zkz.4_5'UTR|MPDZ_uc010mhz.3_Nonsense_Mutation_p.R1044*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.R1044*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.R1044*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.R1044*	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1044	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			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)		CGGCCATCTCGACTAATGGCA	0.443000														144			13		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247556	247556	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:247556C>T	uc001qhw.2	+	3	1027	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	IQSEC3_uc001qhu.1_Silent_p.L40L|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.	343	IQ.				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)		CAACTCGCTTCTGGAGAGCCG	0.662000														33			3		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559927	44559927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44559927C>T	uc002lcr.1	-	0	2062	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	570	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTTTCTTTCTGCGATACAG	0.498000														43			8		0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4303919	4303919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:4303919C>T	uc003ghu.3	+	2	531	c.356C>T	c.(355-357)tCa>tTa	p.S119L	ZBTB49_uc003ghv.3_Intron|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TTTTTAAAATCAGCCACTGTA	0.418000														104			5		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355638	10355638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10355638C>T	uc002gmn.3	-	26	3469	c.3358G>A	c.(3358-3360)Gag>Aag	p.E1120K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1120					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGCTCCTCAATGCGGGCC	0.512000														60			6		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145619965	145619965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145619965G>A	uc003zcj.3	-	30	3536	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L	MIR939_uc022bcn.1_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1154					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTTGGTCAAGGGCTGGCCAGG	0.607000														58			5		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762784	176762784	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:176762784G>A	uc001gkz.3	+	19	6273	c.5109G>A	c.(5107-5109)tgG>tgA	p.W1703*	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1703	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAGCACTGGATGGAACCTG	0.478000														77			14		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225596	21225596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:21225596G>A	uc002red.3	-	28	12826	c.12698C>T	c.(12697-12699)tCg>tTg	p.S4233L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4233					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S4233S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGACTTTCGAATATACCTG	0.413000														75			9		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380568	56380568	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56380568G>A	uc001nja.1	-	0	411	c.411C>T	c.(409-411)tcC>tcT	p.S137S	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGATGTTCTTGGACATCCTGG	0.458000														57			4		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101016271C>T	uc003yjb.1	-	16	2705	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R837Q(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353000														69			5		0	0	1	0	0
VHDJH	0	broad.mit.edu	37	16	32077592	32077592	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:32077592C>T	uc010vfu.2	+	0		c.23C>T								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		GCCGATTCACCATCTCCAGGG	0.522000														738			19		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644563	70644563	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:70644563C>T	uc001jos.2	+	2	1098	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	STOX1_uc001joq.3_Silent_p.F227F|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.F227F	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	337						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTGCTCAGTTCCCACCTGAAG	0.423000														71			10		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70922898	70922898	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:70922898G>A	uc021vjc.1	-	5	775	c.510C>T	c.(508-510)atC>atT	p.I170I	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.I170I|ADD2_uc002sgz.3_Silent_p.I170I|ADD2_uc010fdt.2_Silent_p.I170I|ADD2_uc002shc.2_Silent_p.I170I|ADD2_uc010fdu.2_Silent_p.I186I	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	170					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTAGGGCTGATCAGGAAGT	0.522000														52			6		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189691750	189691750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:189691750G>A	uc011bsk.2	-	9	1884	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	LEPREL1_uc003fsg.3_Missense_Mutation_p.P318L	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	499					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGGTGTATGGGGTGAAGTTTT	0.393000														233			24		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103275896	103275896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:103275896G>A	uc022ajr.1	-	18	2601	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	RELN_uc022ajq.1_Missense_Mutation_p.S814L|RELN_uc010liz.3_Missense_Mutation_p.S814L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	814					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCTGAGATATGAATAATGCTC	0.408000														56			7		0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891226	29891226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:29891226C>T	uc010ztm.2	-	1	98	c.98G>A	c.(97-99)aGc>aAc	p.S33N		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Homo sapiens defensin, beta 116 (DEFB116), mRNA.	33					defense response to bacterium	extracellular region		p.K32N(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCTCTCGGCTCTTGCCATT	0.453000														68			6		0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126161727	126161727	+	Silent	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:126161727C>A	uc003kud.2	+	8	2425	c.1539C>A	c.(1537-1539)ctC>ctA	p.L513L	LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_Silent_p.L303L	NM_005573	NP_001185486	P20700	LMNB1_HUMAN	Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA.	513	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CAACTGACCTCATCTGGAAGA	0.507000														43			5		0.014758	0.0148069	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11597723	11597723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11597723G>A	uc002gne.3	+	21	4899	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	DNAH9_uc010coo.3_Missense_Mutation_p.D905N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1611	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCTCCTCCGATCTGTTAGA	0.567000														55			5		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15190649	15190649	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:15190649G>A	uc003zlr.2	-	10	1045	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	TTC39B_uc003zlq.2_Silent_p.L239L|TTC39B_uc011lmp.2_Silent_p.L171L|TTC39B_uc010mie.2_Silent_p.L334L|TTC39B_uc011lmr.2_Silent_p.L267L|TTC39B_uc011lmq.2_Silent_p.L336L|TTC39B_uc010mif.2_Silent_p.L336L|TTC39B_uc003zls.1_Silent_p.L171L|TTC39B_uc010mig.1_Silent_p.L239L|TTC39B_uc011lms.2_Non-coding_Transcript|TTC39B_uc003zlp.2_5'Flank	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	270							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GTAACTGCAGGAGGCCCAACT	0.388000														27			3		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945573	55945573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55945573C>T	uc010spp.2	+	0	563	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTGCCTGCTCAGACACAAGC	0.468000														78			5		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083119	152083119	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152083119C>T	uc009wne.1	-	2	2846	c.2574G>A	c.(2572-2574)gaG>gaA	p.E858E	TCHH_uc001ezp.2_Silent_p.E858E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	858					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTGATCCTCCTGGAGGC	0.627000														109			8		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350551	50350551	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:50350551A>G	uc004dpe.2	-	5	3617	c.3591T>C	c.(3589-3591)ggT>ggC	p.G1197G	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1197					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACTTTGTGAACCCTGTCTCG	0.537000														37			4		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714067	6714067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6714067C>T	uc002mfm.3	-	6	771	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	237					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTGTAGGCTCCACTATGACC	0.632000														118			13		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241044	3241044	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:3241044C>T	uc004crg.4	-	4	2839	c.2682G>A	c.(2680-2682)aaG>aaA	p.K894K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	894						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)				TCTCCTCAGTCTTCTCGGAAA	0.473000														44			5		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763511	110763511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:110763511C>T	uc003vft.4	+	3	1729	c.683C>T	c.(682-684)cCa>cTa	p.P228L	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.P228L|LRRN3_uc003vfs.4_Missense_Mutation_p.P228L|LRRN3_uc022akc.1_Missense_Mutation_p.P228L	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	228						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAGAAATACCAGATAACGCC	0.368000														55			10		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36556777	36556778	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:36556777_36556778CC>TT	uc003aot.3	-	0	200_201	c.162_163GG>AA	c.(160-165)gtggga>gtAAga	p.G55R	APOL3_uc003aoq.3_5'UTR|APOL3_uc003aor.3_5'UTR|APOL3_uc003aos.3_5'UTR|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	55					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGTGTGGATCCCACCTCCAGCC	0.515000														131			10		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539700	56539700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56539700C>T	uc002qmj.3	+	6	2101	c.2101C>T	c.(2101-2103)Cgc>Tgc	p.R701C	NLRP5_uc002qmi.3_Missense_Mutation_p.R682C	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	701						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAGTTTGTTCGCTTGGCATT	0.517000														133			22		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28905197	28905197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:28905197C>T	uc001iuf.3	+	11	1740	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	WAC_uc001iud.3_Missense_Mutation_p.S506F|WAC_uc001iue.3_Missense_Mutation_p.S241F|WAC_uc001iug.3_Missense_Mutation_p.S448F|WAC_uc001iuh.3_Missense_Mutation_p.S502F	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	551					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCTGCCCGATCCACGTGTTCA	0.443000														107			15		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138189866	138189866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:138189866C>T	uc003esk.3	+	16	1964	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	580						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTGGTGCTTCGGGTAAATCT	0.597000														85			7		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180714	142180714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142180714C>T	uc011krz.2	-	1	194	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.E49K|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GACATGTATTCATGGTTCATA	0.517000														526			15		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63018492	63018492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:63018492G>A	uc001daq.3	-	21	2711	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	DOCK7_uc001dan.3_Missense_Mutation_p.R785C|DOCK7_uc001dao.3_Missense_Mutation_p.R785C|DOCK7_uc001dap.3_Missense_Mutation_p.R893C|DOCK7_uc001dam.3_Missense_Mutation_p.R73C	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	893					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTCGAGAACGATTTAAATTA	0.443000														64			9		0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11832886	11832886	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11832886T>C	uc002msm.2	-	3	1589	c.1463A>G	c.(1462-1464)cAa>cGa	p.Q488R	ZNF823_uc010xmd.1_Missense_Mutation_p.Q306R|ZNF823_uc010dyi.1_Missense_Mutation_p.Q444R	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	488					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						CCTTTTATGTTGAGAAAGGTA	0.373000										HNSCC(68;0.2)				114			8		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224170	23224170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23224170G>A	uc002dlm.1	+	9	1525	c.1386G>A	c.(1384-1386)tgG>tgA	p.W462*		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	462				EWT -> DGH (in Ref. 5; AAC50758).	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTAAAGAGTGGACACTAACCA	0.597000														102			8		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609113	84609113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:84609113G>A	uc004amn.3	+	3	3775	c.3728G>A	c.(3727-3729)gGc>gAc	p.G1243D		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1243						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AATTCCCAGGGCATCTCGAGT	0.532000														280			33		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448906	27448906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:27448906G>A	uc002dor.2	+	4	864	c.316G>A	c.(316-318)Gat>Aat	p.D106N	IL21R_uc002doq.2_Missense_Mutation_p.D84N|IL21R_uc002dos.2_Missense_Mutation_p.D84N	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	84					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCCACATGGATGTATTCCA	0.557000			T	BCL6	NHL									110			8		0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127823693	127823693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:127823693G>A	uc003ekh.3	-	3	540	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	RUVBL1_uc003ekf.3_Missense_Mutation_p.P86S|RUVBL1_uc010hss.3_Missense_Mutation_p.P146S	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	146					CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|cell division|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|membrane|microtubule organizing center|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CCTCCCATGGGATTCTCTGTC	0.478000														110			14		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55537550C>T	uc003xsd.1	+	3	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	370					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.F369I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAGTTTTCCAGGAAGAAC	0.398000														35			4		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510979	4510979	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4510979C>T	uc001lza.2	+	0	871	c.849C>T	c.(847-849)ctC>ctT	p.L283L		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	283					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)		TTTTCTATCTCCTTTTCCCAC	0.478000														173			15		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50768817	50768817	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:50768817G>A	uc002xwl.3	-	5	2263	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.I636I|ZFP64_uc002xwn.3_Silent_p.I584I	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGCCACTGCGATGTTCTGGC	0.557000														70			9		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109527316	109527316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:109527316G>A	uc010fjn.3	-	7	1289	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	EDAR_uc010yws.2_Missense_Mutation_p.L248F|EDAR_uc002teq.4_Intron	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCTGGGGAGAGAGGAGGGAGT	0.672000														51			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060158	9060158	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9060158C>T	uc002mkp.3	-	2	27492	c.27288G>A	c.(27286-27288)ttG>ttA	p.L9096L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9098	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						TTGAAGTGTCCAAGGTAAGGG	0.483000														93			8		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68856025	68856025	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:68856025C>T	uc002ewg.1	+	11	1957	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.V550V	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	611	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Q610L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGCCTCAGGTCATAAACATCA	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					111			7		0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111312580C>T	uc003dxy.3	-	1	1370	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E157K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	157							DNA binding|metal ion binding	p.R156R(1)		large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000														134			19		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828647	61828647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61828647C>T	uc001jky.3	-	36	12330	c.11992G>A	c.(11992-11994)Gaa>Aaa	p.E3998K	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.	3998					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						TTAAAATATTCAATGGAATGT	0.453000														63			5		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168849266	168849266	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:168849266G>A	uc011bpj.1	-	3	967	c.564C>T	c.(562-564)ttC>ttT	p.F188F	MECOM_uc010hwk.1_Silent_p.F23F|MECOM_uc003ffj.3_Silent_p.F64F|MECOM_uc003ffi.3_5'UTR|MECOM_uc011bpi.1_5'UTR|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_5'UTR|MECOM_uc003ffl.2_Silent_p.F160F|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Silent_p.F188F|MECOM_uc003ffm.1_Silent_p.F64F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	95							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						CGCTCTTCATGAACAGCAGAA	0.458000														24			4		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176916	8176916	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8176916C>T	uc002mjf.3	-	29	3923	c.3906G>A	c.(3904-3906)ggG>ggA	p.G1302G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1302	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGAAACTCCCCGGGATGT	0.592000														194			6		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083328	91083329	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:91083328_91083329CC>TT	uc002bpp.3	+	1	296_297	c.190_191CC>TT	c.(190-192)cca>TTa	p.P64L	CRTC3_uc002bpn.3_Missense_Mutation_p.P64L|CRTC3_uc002bpo.3_Missense_Mutation_p.P64L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	64	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGATCCTTACCAAATGTGAGC	0.431000			T	MAML2	salivary gland mucoepidermoid									65			6		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21124509	21124509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:21124509C>T	uc001iqi.3	-	13	1779	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	461					regulation of actin filament length		actin binding|structural constituent of muscle	p.G461*(2)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCTTGCATTCCTTTCCCTTT	0.448000														191			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61994536	61994536	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61994536G>A	uc001jky.3	-	7	1145	c.807C>T	c.(805-807)atC>atT	p.I269I	ANK3_uc010qih.2_Silent_p.I252I|ANK3_uc001jkz.4_Silent_p.I263I|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	269					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						GTAAAGGAGTGATGTCATTCT	0.393000														37			3		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686592	100686592	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100686592G>A	uc003uxp.1	+	2	11948	c.11895G>A	c.(11893-11895)gtG>gtA	p.V3965V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3965						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)					CTACCCCTGTGATAACTTCCA	0.448000														133			9		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749192	22749192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:22749192G>A	uc003gqp.4	+	2	651	c.560G>A	c.(559-561)gGg>gAg	p.G187E	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.G188E	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	187					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.G187G(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTCACTTTGGGACTGGAGGT	0.438000														90			7		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702343	20702343	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20702343C>T	uc002dhm.1	-	0	236	c.168G>A	c.(166-168)ctG>ctA	p.L56L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.L56L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	56					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCAGTAGTCCAGTACATAAC	0.473000														64			7		0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043328	153043328	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:153043328C>T	uc003qpc.4	+	1	656	c.648C>T	c.(646-648)ggC>ggT	p.G216G		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	216						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCGAGTGGGCCTTTCAACAC	0.512000														101			7		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99410789	99410789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:99410789C>T	uc001kog.1	+	1	584	c.527C>T	c.(526-528)cCt>cTt	p.P176L	PI4K2A_uc010qoy.1_Missense_Mutation_p.P146L|PI4K2A_uc009xvw.1_5'UTR	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	176	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	p.P176P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CTGTGCTGTCCTTGCTGCTTT	0.512000														51			7		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18297413	18297413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:18297413C>T	uc010zrv.1	+	4	2130	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S	ZNF133_uc010gcq.2_Missense_Mutation_p.P640S|ZNF133_uc010zrw.1_Missense_Mutation_p.P577S|ZNF133_uc010gcr.2_Missense_Mutation_p.P640S|ZNF133_uc010zrx.1_Missense_Mutation_p.P545S|ZNF133_uc002wql.4_Missense_Mutation_p.P639S|ZNF133_uc010gcs.3_Missense_Mutation_p.P639S|ZNF133_uc010zry.2_Missense_Mutation_p.P545S|ZNF133_uc002wqm.2_Missense_Mutation_p.P640S	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	640						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCAGCCCGACCCTGAGCCGTG	0.542000														102			8		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135517413	135517413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:135517413C>T	uc004cbq.1	-	13	1885	c.1733G>A	c.(1732-1734)aGa>aAa	p.R578K	DDX31_uc010mzu.1_Missense_Mutation_p.R578K|DDX31_uc004cbr.1_Missense_Mutation_p.R578K	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	578	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GACGCCTCTTCTGGAATGTGA	0.428000														53			9		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417459	150417459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150417459C>T	uc003whq.3	+	2	507	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.R123W	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CCAGTTGGGTCGGTTCACCGC	0.622000														44			4		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50662616	50662616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50662616C>T	uc003bkb.1	-	12	2736	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.E742K|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Missense_Mutation_p.E96K	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	742					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCTTCTCTCCCTGTCTCGG	0.637000														75			5		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81504327	81504327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:81504327G>A	uc010ijp.3	+	2	372	c.323G>A	c.(322-324)gGa>gAa	p.G108E	C4orf22_uc003hmf.3_Missense_Mutation_p.G108E	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	108										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATCGCAGTGGAAAACTGAGT	0.343000														50			5		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2378692	2378692	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2378692G>A	uc002wfy.1	+	5	733	c.672_splice	c.e5+1	p.M224_splice	TGM6_uc010gal.1_Splice_Site_p.M224_splice	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	224					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCAGTGCCATGGTGAGAAGCC	0.582000														117			7		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885825	88885825	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:88885825C>T	uc003ydz.3	-	0	472	c.375G>A	c.(373-375)cgG>cgA	p.R125R		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	125								p.R125W(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATTCACCTTCCGATTAGGGA	0.562000														101			12		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114089932	114089932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:114089932G>A	uc011lwp.2	-	0	782	c.782C>T	c.(781-783)cCt>cTt	p.P261L		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TGATGAAGAAGGCTTTAGGTA	0.413000														42			9		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240999	149240999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:149240999G>A	uc002twm.4	+	9	3836	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'UTR|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	947						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCTTCAGCAGGAGAAGGCAA	0.468000														54			5		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210353	126210353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:126210353C>T	uc003qai.3	+	8	1522	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	NCOA7_uc010kes.3_Missense_Mutation_p.P385S|NCOA7_uc003qae.4_Missense_Mutation_p.P385S|NCOA7_uc010ket.3_Missense_Mutation_p.P270S|NCOA7_uc003qah.3_Missense_Mutation_p.P374S	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	385					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CCATGGTTCTCCCACAGTGAC	0.458000														28			8		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146673043	146673043	+	Missense_Mutation	SNP	G	A	A	rs143729816		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:146673043G>A	uc001epi.2	-	6	1263	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	FMO5_uc001eph.4_Missense_Mutation_p.R292C|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	292						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.R292S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAAATGATACGATTTGGCAGG	0.448000														96			7		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901439	51901439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:51901439G>A	uc002iua.2	+	0	1201	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	349	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAGAAGCTGGACCTCAAAGT	0.448000														110			8		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074105	108074105	+	Missense_Mutation	SNP	G	A	A	rs137976918	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108074105G>A	uc003dwz.3	+	4	976	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	HHLA2_uc011bhl.2_Missense_Mutation_p.G124R|HHLA2_uc010hpu.3_Missense_Mutation_p.G188R|HHLA2_uc003dwy.4_Missense_Mutation_p.G188R	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	188	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGAAGAAACAGGGTCTTTGGA	0.363000														23			5		0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72057474	72057474	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:72057474A>T	uc002fbp.3	+	7	1096	c.1075A>T	c.(1075-1077)Acc>Tcc	p.T359S		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	359					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CACGGCCCTCACCTTCTGGGG	0.607000														67			8		0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26365694	26365694	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26365694T>C	uc001blg.1	-	7	1293	c.1076A>G	c.(1075-1077)gAg>gGg	p.E359G	SLC30A2_uc001blh.1_Missense_Mutation_p.E310G	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	310					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-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;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCATGTCCTCCGAGTAGTC	0.602000														69			4		0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536121	79536121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:79536121G>A	uc002kau.3	-	13	1552	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L	NPLOC4_uc002kat.4_Missense_Mutation_p.P457L|NPLOC4_uc010wur.1_Missense_Mutation_p.P296L|NPLOC4_uc010dic.3_5'Flank|NPLOC4_uc002kas.3_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	457					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGATCCTTGGGGAAAGTTGT	0.433000														50			6		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874242	36874242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36874242G>A	uc003cgj.3	-	20	6948	c.6700C>T	c.(6700-6702)Cat>Tat	p.H2234Y		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2234					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTCTCTGATGGAAATGCTTA	0.373000														87			13		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754071	49754071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:49754071C>T	uc003ozu.3	-	0	983	c.830G>A	c.(829-831)gGt>gAt	p.G277D		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	277					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AATCCTTACACCATTCTTTTG	0.438000														114			10		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	66999121	66999121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66999121C>T	uc001ojw.3	+	11	2033	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.S84F	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCAGGCGTTCTGTCCTCACT	0.502000														14			4		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095028	143095028	+	Missense_Mutation	SNP	G	A	A	rs142265364		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143095028G>A	uc003wcz.3	-	7	1687	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	534	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGGCTGGTCCGAAACTCATGA	0.562000														99			10		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246577	164246577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:164246577C>T	uc003iqm.2	-	2	1498	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.D102N	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	345					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.D344H(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATAATCATCATCCCGAGAC	0.398000														114			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049163	9049163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9049163G>A	uc002mkp.3	-	4	32672	c.32468C>T	c.(32467-32469)tCa>tTa	p.S10823L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10825	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						CGTGACCAATGAAACTGTTGT	0.483000														107			13		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938171	75938171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:75938171G>A	uc003hih.2	+	1	833	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	194					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AACTGCACCAGAGTCCCCGAC	0.567000														191			11		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56989547	56989547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:56989547G>A	uc001cyj.2	-	3	1149	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	194					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGAGAAGAAGGACTTCCTGCA	0.493000														40			9		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590232	140590232	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140590232C>T	uc003liz.3	+	0	1942	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	PCDHB12_uc011dak.2_Silent_p.L248L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	585	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			GCCGGGCTACCTGGTGACCAA	0.697000														349			22		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818679	101818679	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:101818679G>A	uc004azb.1	+	34	3536	c.3330G>A	c.(3328-3330)ctG>ctA	p.L1110L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1110	Nonhelical region 9 (NC9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGCTATCCTGGGAGCAGGTT	0.622000														40			3		0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27631507	27631507	+	Silent	SNP	C	T	T	rs143241417		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:27631507C>T	uc009vst.2	+	14	2194	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	WDTC1_uc001bno.3_Silent_p.I552I|WDTC1_uc001bnp.1_Intron|WDTC1_uc001bnq.3_Silent_p.I231I	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	553							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTCAGTATATCGTCAGTGGCT	0.587000														36			4		0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482100	178482100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:178482100C>T	uc002ulo.3	-	0	1595	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	444					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AAGACCTTTTCCACCATTGGA	0.388000														41			3		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846840	55846840	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55846840C>T	uc001sgz.1	+	0	843	c.843C>T	c.(841-843)ccC>ccT	p.P281P		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTGTCGCACCCTTGTTGAACC	0.413000														44			5		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601485	48601485	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:48601485T>C	uc010xzd.2	-	5	846	c.509A>G	c.(508-510)aAg>aGg	p.K170R	PLA2G4C_uc002phw.3_Missense_Mutation_p.K95R|PLA2G4C_uc010elr.3_Missense_Mutation_p.K160R|PLA2G4C_uc002phx.3_Missense_Mutation_p.K160R|PLA2G4C_uc002phy.4_Missense_Mutation_p.K160R	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	160	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTCCACGGGCTTCTTCATATT	0.537000														67			17		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109863281	109863281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:109863281G>A	uc003ptn.2	-	26	3396	c.3319C>T	c.(3319-3321)Ctt>Ttt	p.L1107F	AKD1_uc011eat.1_Missense_Mutation_p.L186F	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1107					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						CACTCAGAAAGAATTACTTCA	0.299000														21			3		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95497827	95497827	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:95497827G>A	uc010fhp.3	-	6		c.721C>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ACTTTCTCGGGGACACACTGC	0.353000														129			14		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753164	42753164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:42753164G>A	uc002ote.4	-	3	1258	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	ERF_uc002otd.4_Missense_Mutation_p.S98F	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	367	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGAAGAAGAGGATGACGAGGC	0.687000														89			15		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696465	69696465	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:69696465C>T	uc003hee.3	+	5	1480	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	UGT2B10_uc011cam.2_Silent_p.F401F	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	485					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCACCTGGTTCCAGTACCACT	0.483000														182			8		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008832	11008832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11008832G>A	uc010oao.2	-	11	1360	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S	C1orf127_uc001ars.2_Missense_Mutation_p.P289S|C1orf127_uc001arr.2_Missense_Mutation_p.P297S	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	305										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACCACTCTGGGGAGAATGGAG	0.607000														158			13		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401049	55401049	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55401049G>A	uc002qhr.1	+	4	881	c.684G>A	c.(682-684)ttG>ttA	p.L228L	FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.L179L|FCAR_uc010esi.1_Silent_p.L105L|FCAR_uc002qhu.1_Silent_p.L132L|FCAR_uc002qhv.1_Silent_p.L206L|FCAR_uc002qhw.1_Silent_p.L216L|FCAR_uc002qhx.1_Silent_p.L120L|FCAR_uc002qhy.1_Silent_p.L194L|FCAR_uc002qhz.1_Missense_Mutation_p.D192N|FCAR_uc002qia.1_Silent_p.L119L	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	228					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CGCAGAACTTGATCCGCATGG	0.537000														681			31		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692664	47692664	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:47692664G>T	uc002zir.1	-	7	2312	c.2276C>A	c.(2275-2277)gCc>gAc	p.A759D		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	759					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)					CATGAAGTGGGCACAGTGGAT	0.557000														115			9		5.16669e-11	5.22642e-11	1	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40673057	40673057	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40673057G>C	uc002hzs.3	+	20	2603	c.2436G>C	c.(2434-2436)caG>caC	p.Q812H	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.Q811H|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.Q805H|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.Q768H|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.Q762H|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.Q457H|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.Q670H|ATP6V0A1_uc002hzt.3_Missense_Mutation_p.Q95H|ATP6V0A1_uc002hzu.3_Missense_Mutation_p.R96T	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	811					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTGAGTTCCAGAATAAATTCT	0.468000														294			24		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10088126	10088126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10088126G>A	uc002mmq.1	-	42	3235	c.3149C>T	c.(3148-3150)cCc>cTc	p.P1050L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1050	Triple-helical 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)			TTTGCCAGTGGGGCCAGGGGG	0.657000														75			5		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22893200	22893200	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:22893200C>T	uc002zwf.3	-	2	489	c.333G>A	c.(331-333)gaG>gaA	p.E111E	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.E95E|PRAME_uc010gtr.3_Silent_p.E111E|PRAME_uc002zwg.3_Silent_p.E111E|PRAME_uc002zwh.3_Silent_p.E111E|PRAME_uc002zwi.3_Silent_p.E111E|PRAME_uc002zwj.3_Silent_p.E111E|PRAME_uc002zwk.3_Silent_p.E111E	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	111					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGGCGAACCTCCTGGGCAA	0.597000														169			14		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174417	51174417	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174417C>T	uc021tif.1	-	1	1747	c.1425G>A	c.(1423-1425)acG>acA	p.T475T	SALL1_uc021tid.1_Silent_p.T475T|SALL1_uc021tie.1_Silent_p.T572T|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	572					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)			CTGGCTCTTCCGTCTTGATGA	0.607000														83			7		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67681173	67681173	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:67681173C>T	uc002aqo.2	+	11	1558	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	IQCH_uc002aqp.2_Silent_p.A239A|IQCH_uc002aqq.2_Silent_p.A235A	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	487										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTTAGATGCCAATGTGAATG	0.378000														58			6		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091654	38091654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:38091654C>T	uc003gtb.3	+	12	2510	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TBC1D1_uc011byd.2_Missense_Mutation_p.R812C|TBC1D1_uc010ifd.3_Missense_Mutation_p.R505C|TBC1D1_uc011byf.1_Missense_Mutation_p.R589C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	718						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGGACATCTCGTGAGCTCCG	0.488000														63			9		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451758	29451758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29451758C>T	uc002rmy.3	-	15	3759	c.2807G>A	c.(2806-2808)gGa>gAa	p.G936E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	936	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACCTATATATCCTCCGCCTCC	0.622000			"""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					115			7		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43898795	43898795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43898795C>T	uc010dap.3	+	3	581	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Missense_Mutation_p.L106F|CRHR1_uc002ijn.3_Missense_Mutation_p.L66F|CRHR1_uc010dar.3_Missense_Mutation_p.L106F|CRHR1_uc010dao.3_Intron|CRHR1_uc010daq.3_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Intron	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	106					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCAGGAGATCCTCAATGAGGA	0.597000														99			11		0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37371248	37371248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37371248C>T	uc002hrs.3	-	5	1013	c.728G>A	c.(727-729)gGg>gAg	p.G243E	STAC2_uc010cvt.3_Missense_Mutation_p.G101E	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	243					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCTGCCTTCCCCATCCTCGGT	0.627000														379			42		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203480	140203480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140203480C>T	uc003lhl.2	+	0	2120	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	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.S707F|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S707F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	716					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)			TGTGCGGTGTCCAGCCTGCTG	0.692000														108			17		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445948	32445948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32445948C>T	uc003amc.3	+	1	404	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	52					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.N51H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCCACCAATCGTGGGACTGT	0.468000														300			22		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547341	43547341	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43547341C>T	uc002zag.1	+	17	3903	c.3903C>T	c.(3901-3903)ttC>ttT	p.F1301F	UMODL1_uc002zad.1_Silent_p.F1101F|UMODL1_uc002zae.1_Silent_p.F1229F|UMODL1_uc002zaf.1_Silent_p.F1173F|UMODL1_uc002zal.1_Silent_p.F123F|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1173						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTTCAGCTTCATTAACAACA	0.557000														57			8		0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34649471	34649471	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:34649471C>T	uc003zve.3	+	9	1036	c.969C>T	c.(967-969)taC>taT	p.Y323Y	GALT_uc003zvf.3_Silent_p.Y214Y|IL11RA_uc003zvi.3_5'Flank|IL11RA_uc011loq.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	323			Y -> D (in GALCT).|Y -> H (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCATTACTACCCTCCGCTCC	0.587000									Galactosemia					122			20		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701440	192701440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:192701440C>T	uc002utb.3	-	1	842	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	163						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCTCATTTTCCTCCTGAAAA	0.468000														21			4		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47385231	47385231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:47385231C>T	uc003crd.3	+	9	1651	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	KLHL18_uc011bav.2_Missense_Mutation_p.P397S	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	509										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCTGATTGTCCCCATGCACAC	0.617000														93			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202182	140202182	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140202182G>A	uc003lhl.2	+	0	822	c.822G>A	c.(820-822)aaG>aaA	p.K274K	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_Silent_p.K274K|PCDHAC2_uc003lhj.1_Silent_p.K274K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	290	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAATAAGGAAATAGTGT	0.328000														60			4		0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99102183	99102183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:99102183G>A	uc003yih.1	+	1	1086	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	313	Glu-rich.							p.R313Q(4)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CATCCAGCACGAAATGTAGAG	0.438000														118			4		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059114	152059114	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152059114C>T	uc001ezo.1	-	2	1109	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	348							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACCCAAATTCTTTGTTTTAG	0.423000														210			11		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121500260	121500260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:121500260G>A	uc001pxx.3	+	47	6762	c.6633G>A	c.(6631-6633)atG>atA	p.M2211I	SORL1_uc010rzp.1_Missense_Mutation_p.M1057I|SORL1_uc010rzq.1_Missense_Mutation_p.M826I	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2211					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACGTCCCCATGGTGATAGCCT	0.383000														76			10		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42003946	42003946	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:42003946G>A	uc011kbh.2	-	14	4816	c.4725C>T	c.(4723-4725)ttC>ttT	p.F1575F	GLI3_uc011kbg.2_Silent_p.F1516F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1575					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						TAACTGCAAGGAATTTGCTTT	0.458000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					45			5		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	T	T	rs145638725		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158261127C>T	uc001fru.3	+	1	557	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	89					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000														87			6		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065841	35065841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35065841G>A	uc003jjm.3	-	9	1778	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.H306Y|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	407					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACCAGCATGAAAATAGGGG	0.493000														203			17		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977073	107977073	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:107977073T>C	uc004eoc.2	-	0	2535	c.2502A>G	c.(2500-2502)ggA>ggG	p.G834G		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	834						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity	p.G834R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCAGGAACTTTCCAGGTAACA	0.493000														159			36		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36760865	36760865	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:36760865G>A	uc002xhr.3	-	10	1753	c.1653C>T	c.(1651-1653)taC>taT	p.Y551Y	TGM2_uc002xhq.3_Silent_p.Y152Y|TGM2_uc010zvx.2_Silent_p.Y470Y|TGM2_uc010zvy.2_Silent_p.Y491Y|TGM2_uc002xhs.1_Silent_p.Y527Y	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	551					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGCAGTCACGGTATTTCTCAT	0.547000														318			37		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828496	61828496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61828496G>A	uc001jky.3	-	36	12481	c.12143C>T	c.(12142-12144)tCg>tTg	p.S4048L	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.	4048					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						CGTTGTAACCGAAGGCTGGCC	0.473000														105			11		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046804	42046804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:42046804G>A	uc001cgz.4	-	3	4878	c.3665C>T	c.(3664-3666)tCc>tTc	p.S1222F	HIVEP3_uc001cha.4_Missense_Mutation_p.S1222F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1222					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGAGGAAGGAAGGGGGCTG	0.592000														98			9		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132530313	132530313	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:132530313C>T	uc001ujn.3	+	38	7220	c.7068C>T	c.(7066-7068)atC>atT	p.I2356I	EP400_uc021rgq.1_Silent_p.I2355I|EP400_uc001ujm.3_Silent_p.I2275I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2392					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.I2355I(2)|p.V2356M(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCTCACAATCGTGTCACCTG	0.478000														44			5		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5510223C>T	uc010qzg.2	+	0	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGATTTCCTTTGGTGGA	0.498000														38			3		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782054	107782054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:107782054C>T	uc003ymm.4	-	0	419	c.365G>A	c.(364-366)gGg>gAg	p.G122E		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	122					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTCACGTCCCCTCCTCTCTC	0.532000														132			17		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169637340	169637340	+	Silent	SNP	C	T	T	rs151002058		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169637340C>T	uc003fgd.3	+	2	321	c.54C>T	c.(52-54)atC>atT	p.I18I	SAMD7_uc003fge.3_Silent_p.I18I|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	18										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCCCACTGATCCCCTCACCAT	0.428000														134			10		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799344	196799344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196799344C>T	uc002utj.4	-	20	3543	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1148	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAACTCTCTCTAATTCAACC	0.368000														164			16		0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927365	28927365	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:28927365G>A	uc003jgz.1	+	0		c.389G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		CAGTTAATGTGAAAACAAGGT	0.448000														115			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183245366	183245366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:183245366G>A	uc003ivd.1	+	0	268	c.193G>A	c.(193-195)Gat>Aat	p.D65N	ODZ3_uc021xux.1_Missense_Mutation_p.D65N|ODZ3_uc010irv.1_Missense_Mutation_p.D65N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	65	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGAGTGAAGGATTTGGTTCA	0.478000														60			6		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52551896	52551896	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52551896G>A	uc003dej.3	+	45	4713	c.4639_splice	c.e45-1	p.N1547_splice	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1547	EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCTGACTCAGAACAATGGAG	0.587000														86			6		0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128694744	128694744	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128694744C>T	uc010lly.2	-	0	484	c.81G>A	c.(79-81)aaG>aaA	p.K27K	TNPO3_uc003vol.2_Silent_p.K27K|TNPO3_uc010llz.2_Silent_p.K27K|TNPO3_uc003vom.2_5'UTR|TPI1P2_uc003von.2_5'Flank	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	27					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGGCGCGCTCCTTTCCGCTGG	0.652000														30			5		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836053	12836053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12836053C>T	uc001aui.3	+	1	682	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	219								p.L219F(2)		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)		GCTGTCCATTCTTATAAGGTT	0.517000														156			13		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58589330	58589330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:58589330G>A	uc002env.3	-	20	3009	c.2716C>T	c.(2716-2718)Cct>Tct	p.P906S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P901S|CNOT1_uc002enx.3_Missense_Mutation_p.P906S|CNOT1_uc002enz.1_Missense_Mutation_p.P335S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	906					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCTTTATCAGGATACTGGGGA	0.383000														113			6		0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150934798	150934798	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150934798G>A	uc003wjr.1	+	3	2863	c.1350G>A	c.(1348-1350)ttG>ttA	p.L450L	CHPF2_uc003wjq.1_Silent_p.L442L|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	450						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ACCTGCTGTTGGAATGTGTGA	0.647000														116			9		0	0	1	0	0
C1orf100	200159	broad.mit.edu	37	1	244541927	244541927	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:244541927C>A	uc001iah.3	+	3	424	c.311C>A	c.(310-312)cCa>cAa	p.P104Q	C1orf100_uc001iai.3_Missense_Mutation_p.P72Q	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA.	104										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			TATTCTCTGCCATTTTATGAG	0.448000														108			9		1.61879e-10	1.63667e-10	1	1	0
FAM75A6	389730	broad.mit.edu	37	9	43630623	43630623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:43630623C>T	uc011lrb.2	-	0	108	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	27						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AGGAAGATATCCAACACCCAT	0.483000														55			16		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408569	98408569	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98408569C>T	uc001kmq.3	-	6	1160	c.1032G>A	c.(1030-1032)gcG>gcA	p.A344A	PIK3AP1_uc001kmp.3_Silent_p.A166A	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	344						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCCATACTTCGCAGCAAAAT	0.512000														53			4		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643546	94643546	+	Silent	SNP	G	A	A	rs139806754	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:94643546G>A	uc001dqj.4	-	20	3027	c.2658C>T	c.(2656-2658)ttC>ttT	p.F886F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.F452F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	886	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGGACCCATCGAAGATCTTCT	0.443000														94			9		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707795	50707795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:50707795C>T	uc002egk.2	-	3	646	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	158	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGGGCGCGCCGACGCTCACA	0.642000														44			6		0	0	1	0	0
NGB	58157	broad.mit.edu	37	14	77732921	77732921	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:77732921C>T	uc001xtg.1	-	3	789	c.414G>A	c.(412-414)ggG>ggA	p.G138G		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	Homo sapiens neuroglobin (NGB), mRNA.	138	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GCACTACGGCCCCGTAGAGTT	0.627000														82			6		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755512	10755512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:10755512G>A	uc003wtk.1	-	2	1903	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	626						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGTCCGTCTCGATATCGAATG	0.473000														114			13		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835722	12835722	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12835722G>A	uc001aui.3	+	1	351	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	108										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)		TGCGGAATGTGGATGAGAACT	0.527000														252			16		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46214568	46214568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:46214568G>A	uc003oyc.2	-	3	641	c.488C>T	c.(487-489)cCa>cTa	p.P163L	RCAN2_uc003oyb.2_Missense_Mutation_p.P117L|RCAN2_uc003oyd.2_Missense_Mutation_p.P163L	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	117					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.H163H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCCAACAGGTGGGGAGGAAGG	0.547000														38			6		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110828825	110828825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:110828825C>T	uc001vqw.4	-	35	3126	c.3004G>A	c.(3004-3006)Ggt>Agt	p.G1002S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1002	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGAGCACCTGGGGTTCCA	0.488000														95			4		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43173000	43173000	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43173000G>A	uc003ouk.3	+	24	4708	c.4633_splice	c.e24-1	p.M1545_splice	CUL9_uc003oul.3_Splice_Site_p.M1545_splice|CUL9_uc010jyk.3_Splice_Site_p.M697_splice	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1545					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						CCTGCCCCCAGATGAGTGAGC	0.567000														347			26		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916461	42916461	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:42916461G>T	uc003cmh.3	-	0	1173	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	283					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTTCCCCTGGGAGGCCCAGAG	0.582000														23			5		0.217242	0.217463	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4810403	4810403	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:4810403C>T	uc003bqc.3	+	44	6239	c.5889C>T	c.(5887-5889)ctC>ctT	p.L1963L	ITPR1_uc021wsi.1_Silent_p.L1930L|ITPR1_uc021wsj.1_Silent_p.L1915L|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1978					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCCCATCCTCCGCTTCCTTC	0.642000														115			18		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891817	38891817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38891817C>T	uc021yzh.1	+	72	10950	c.10841C>T	c.(10840-10842)cCt>cTt	p.P3614L	DNAH8_uc003ooe.2_Missense_Mutation_p.P3397L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACCTTGGTCCTTTCAATCAG	0.413000														82			4		0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53431199	53431199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53431199G>A	uc001sbh.4	+	10	1519	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	EIF4B_uc010snu.2_Missense_Mutation_p.R443Q|EIF4B_uc010snv.2_Missense_Mutation_p.R399Q	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	438					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.A437V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACAGATGCACGAAGGAGAGAG	0.448000														22			5		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68139057	68139057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:68139057C>T	uc009xpn.1	-	11	1708	c.1585G>A	c.(1585-1587)Gat>Aat	p.D529N	CTNNA3_uc001jmw.2_Missense_Mutation_p.D529N	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	529					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.Q528K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTATCAGCATCCTGGTCTCTT	0.458000														51			7		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32739085	32739085	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32739085C>T	uc003jhv.3	+	2	1453	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	NPR3_uc010iuo.3_Silent_p.S120S|NPR3_uc003jhw.2_Silent_p.S120S|NPR3_uc003jhu.3_Silent_p.S336S	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	336					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGAAGTTTTCCATGGAGGTGA	0.443000														73			8		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740901	71740901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:71740901G>A	uc002llf.2	-	9	1408	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.S367F	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	367										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GCACACCGGGGAACTGAAACA	0.478000														183			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751953	140751953	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140751953C>T	uc003ljw.2	+	0	1992	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.F664F|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	666	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607000														95			5		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247836167G>A	uc001idi.1	-	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F59L(4)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			GTGTCAGAAGGAAAACATACA	0.418000														28			4		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635323	7635323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7635323C>T	uc001qsz.3	-	13	3291	c.3163G>A	c.(3163-3165)Ggg>Agg	p.G1055R	CD163_uc001qta.3_Missense_Mutation_p.G1055R|CD163_uc009zfw.2_Missense_Mutation_p.G1088R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1055					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						CCAAGGATCCCGACTGCAATA	0.423000														69			4		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953700	56953700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56953700G>A	uc002qne.3	-	6	1455	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	ZNF667_uc010etl.3_Missense_Mutation_p.H4Y|ZNF667_uc002qnd.3_Missense_Mutation_p.H222Y|ZNF667_uc010etm.3_Missense_Mutation_p.H165Y	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTCCATCATGAATTCTCATA	0.378000														73			9		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377941	28377941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28377941C>T	uc001zbj.3	-	79	12372	c.12266G>A	c.(12265-12267)aGa>aAa	p.R4089K		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4089					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCAATTCCTCTCAGAGACTC	0.507000														164			15		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676352	20676352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:20676352G>A	uc001mqd.3	+	15	2605	c.2332G>A	c.(2332-2334)Gga>Aga	p.G778R	SLC6A5_uc009yic.3_Missense_Mutation_p.G543R	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	778					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G778E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGACCCCTTGGGAACCTCTTC	0.547000														171			7		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:71318539C>T	uc001dfk.1	-	3	1339	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.E361K	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000														189			23		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055757	40055757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40055757C>T	uc003ayc.3	+	13	2504	c.2504C>T	c.(2503-2505)tCt>tTt	p.S835F	CACNA1I_uc003ayd.3_Missense_Mutation_p.S800F|CACNA1I_uc003aye.3_Missense_Mutation_p.S750F|CACNA1I_uc003ayf.3_Missense_Mutation_p.S715F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	835					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)	GCCTCCACTTCTCCCTGGGCC	0.597000														201			12		0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554981	136554981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:136554981C>T	uc003yuv.3	+	2	686	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	KHDRBS3_uc003yuw.3_Missense_Mutation_p.L98F	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	98	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AATGTCCATCCTTGGGAAAGG	0.368000														63			4		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:128505667C>T	uc003qbk.3	-	6	1439	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_uc010kfc.3_Missense_Mutation_p.E358K|PTPRK_uc003qbj.3_Missense_Mutation_p.E358K|PTPRK_uc011ebu.2_Missense_Mutation_p.E358K|PTPRK_uc003qbl.1_Missense_Mutation_p.E228K|PTPRK_uc011ebv.1_Missense_Mutation_p.E358K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	358	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458000														116			15		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539992	31539992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31539992C>T	uc002ecj.3	+	2	374	c.289C>T	c.(289-291)Cac>Tac	p.H97Y		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	97					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						GCTCCCGAGTCACCCACCGCC	0.582000														23			4		0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124748074	124748074	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124748074T>C	uc003yqt.3	-	1	132	c.59A>G	c.(58-60)aAa>aGa	p.K20R	ANXA13_uc003yqu.3_Intron	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGTCCCCTTTAGGCAACTG	0.522000														70			8		0	0	1	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38743542	38743542	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:38743542T>G	uc002ohq.3	-	1	526	c.274A>C	c.(274-276)Aaa>Caa	p.K92Q	PPP1R14A_uc010efv.3_Intron	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14A (PPP1R14A), transcript variant 1, mRNA.	92	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCTGGATTTTCCGGCTTCTC	0.512000														279			46		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969850	200969850	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200969850C>T	uc001gvs.2	-	9	1778	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	KIF21B_uc009wzl.2_Silent_p.E487E|KIF21B_uc001gvr.2_Silent_p.E487E|KIF21B_uc010ppn.2_Silent_p.E487E	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	487					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E486K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCACCGTAGCTCCTCGATCT	0.637000														92			7		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562191	142562191	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142562191G>A	uc011kst.2	+	6	1420	c.633G>A	c.(631-633)gtG>gtA	p.V211V	EPHB6_uc011ksu.2_Silent_p.V211V|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	211						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTTCTACGTGGCCTTCCAGG	0.652000														216			24		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6692978	6692979	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6692978_6692979CC>AT	uc002mfm.3	-	25	3408_3409	c.3346_3347GG>AT	c.(3346-3348)ggg>ATg	p.G1116M		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1116					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G1116R(2)|p.D1115H(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGAAGACCCCGTCGGGCTTC	0.554000														163			11		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240893	60240893	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:60240893A>G	uc001vht.3	-	27	3626	c.3407T>C	c.(3406-3408)cTt>cCt	p.L1136P	DIAPH3_uc001vhs.3_Non-coding_Transcript	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1136					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATTATAATTAAGCTCCTTGGC	0.418000														102			16		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657112	143657112	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143657112C>T	uc003wds.1	+	0	93	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCTCCTCGGCCTGTCCAGTGA	0.453000														197			14		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55174706	55174706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:55174706G>A	uc010ooe.1	+	22	4011	c.3687G>A	c.(3685-3687)atG>atA	p.M1229I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.M747I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.M430I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1229						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						TCCCCTGCATGGAGAGCATAA	0.517000														171			22		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53865470	53865470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53865470C>T	uc001sdl.4	+	13	1290	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	PCBP2_uc001sde.4_Missense_Mutation_p.R310C|PCBP2_uc001sdi.4_Missense_Mutation_p.R284C|PCBP2_uc001sdd.4_Missense_Mutation_p.R280C|PCBP2_uc001sdf.4_Missense_Mutation_p.R267C|PCBP2_uc001sdc.4_Missense_Mutation_p.R315C|PCBP2_uc001sdb.4_Missense_Mutation_p.R311C|PCBP2_uc010soi.2_Missense_Mutation_p.R52C|PCBP2_uc010soj.2_Missense_Mutation_p.R64C|PCBP2_uc001sdk.4_Missense_Mutation_p.R87C	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	314	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAATGAGATCCGTCAGATGTC	0.498000														35			4		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98164926	98164926	+	Missense_Mutation	SNP	C	T	T	rs146170505		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:98164926C>T	uc001drv.3	-	5	798	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	221					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCAACATATTCTTGTTTTTCA	0.353000														88			13		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841484	100841484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100841484G>A	uc003uyc.3	-	4	823	c.656C>T	c.(655-657)gCg>gTg	p.A219V	MOGAT3_uc010lhr.3_Missense_Mutation_p.A219V	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	219					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGCCTCAGCGCCAGGCGCAC	0.642000														73			4		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911713	23911713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:23911713G>A	uc001uon.2	-	9	6891	c.6302C>T	c.(6301-6303)tCc>tTc	p.S2101F	SACS_uc001uoo.2_Missense_Mutation_p.S1954F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2101					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCCCTCCAAGGAACAAGGAAT	0.398000														41			3		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146129	31146129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:31146129G>A	uc003tca.2	+	15	1527	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.R441Q|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.R440Q|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.R392Q|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.R441Q	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	413					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GAGATCAAGCGAAAATGGCGA	0.612000														92			20		0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38976768	38976768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:38976768G>A	uc002rqz.3	-	2	527	c.289C>T	c.(289-291)Cga>Tga	p.R97*	SRSF7_uc010ynp.2_Nonsense_Mutation_p.R97*|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	97					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGGACGTCGGGCAGGTGGT	0.463000														123			18		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103557529	103557529	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:103557529G>A	uc022ajr.1	-	1	490	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RELN_uc022ajq.1_Silent_p.F110F|RELN_uc010liz.3_Silent_p.F110F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	110	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACCAAATCCGAAAGCACTGG	0.393000														100			12		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327916	80327916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:80327916G>A	uc003hlu.3	-	0	1457	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	480					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTGAGAACTGACAAAGCCTG	0.493000														115			6		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970044	118970044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:118970044G>A	uc003ksm.2	+	2	811	c.601G>A	c.(601-603)Gac>Aac	p.D201N	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.D201N|FAM170A_uc003kso.3_Missense_Mutation_p.D154N	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	201						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GACAGAATCAGACAGCCTGCC	0.587000														98			5		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415188	77415188	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:77415188C>T	uc004ajl.1	-	16	2458	c.2220G>A	c.(2218-2220)agG>agA	p.R740R	TRPM6_uc004ajk.1_Silent_p.R735R|TRPM6_uc022bib.1_Silent_p.R735R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	740					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						AAGAGTTTTTCCTCATTTTCA	0.393000														44			5		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65165729	65165729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:65165729C>T	uc003hcv.3	-	7	846	c.737G>A	c.(736-738)gGa>gAa	p.G246E		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	246					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTGCCTGTTTCCAAATGCTGG	0.299000														113			11		0	0	1	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186450	79186450	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:79186450T>C	uc002bel.3	+	10	985	c.797T>C	c.(796-798)gTa>gCa	p.V266A	MORF4L1_uc002bem.3_Missense_Mutation_p.V227A|MORF4L1_uc010une.2_Missense_Mutation_p.V139A	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.	266	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone H2A acetylation|histone H4 acetylation|histone deacetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TACTTCAACGTAATGTTGGGT	0.403000														139			15		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751407	26751407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:26751407G>A	uc003cdp.3	+	1	833	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E82K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E82K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	82						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TATTCCCAATGAAATTTTTAA	0.408000														27			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764916	140764916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140764916C>T	uc003ljz.1	+	0	2450	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	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_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank	NM_032087	NP_114476	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), 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)			CCTTTATTTCCATGAGGAATT	0.318000														22			5		0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775299	1775299	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1775299G>A	uc001luc.2	-	6	1030	c.897C>T	c.(895-897)tcC>tcT	p.S299S	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	299					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCACCATGAGGGAAGTGCCTG	0.706000														41			3		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785277	54785277	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:54785277G>A	uc004dtj.2	-	7	1260	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	410	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I410I(1)									CATTGGAGAGGATCACACTGG	0.627000														34			7		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618020	89618020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:89618020C>T	uc001dna.2	-	4	695	c.556G>A	c.(556-558)Gag>Aag	p.E186K	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	186						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AACTTCAGCTCCAGGGTAAAA	0.478000														109			17		0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152096067	152096067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:152096067G>A	uc010ipl.1	-	6	1539	c.449C>T	c.(448-450)tCc>tTc	p.S150F	SH3D19_uc003imc.2_Missense_Mutation_p.S150F|SH3D19_uc003ime.2_Missense_Mutation_p.S150F|SH3D19_uc010ipm.2_Missense_Mutation_p.S150F	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	150	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTTTTCTGAGGAAACAGATTT	0.562000														185			11		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596669	142596669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:142596669G>A	uc004fbw.3	-	1	489	c.401C>T	c.(400-402)tCt>tTt	p.S134F		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	134								p.S134C(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGTGAAGATCCTTCAGA	0.443000														42			4		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189925	124189925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124189925G>A	uc010sah.2	-	0	169	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TACACTGGAGGGTAAAGTTGA	0.438000														53			6		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45888202	45888202	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:45888202C>T	uc002ilx.1	-	17	1941	c.1738_splice	c.e17-1	p.V580_splice	OSBPL7_uc002ilw.1_Splice_Site_p.V142_splice	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	580					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGGGAGACCTTGGTGAGCA	0.587000														34			3		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369306	86369306	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:86369306G>A	uc001vll.1	-	1	1797	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A	SLITRK6_uc021rla.1_Silent_p.A446A	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	446						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTCCTTAATGGCATTGTATT	0.333000														42			4		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945401	55945401	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55945401C>T	uc010spp.2	+	0	391	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTGCATTACCTGACTATTAT	0.453000														125			6		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36976627	36976627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:36976627C>T	uc010jwp.1	+	1	257	c.86C>T	c.(85-87)cCc>cTc	p.P29L	FGD2_uc003onf.3_Missense_Mutation_p.P29L|FGD2_uc011dtu.1_Missense_Mutation_p.P29L|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	29					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GAAGCAGCACCCAGAGGCCAG	0.627000														100			4		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14756823	14756823	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:14756823G>A	uc003byy.3	+	8	1793	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	C3orf20_uc003byz.3_Silent_p.E325E|C3orf20_uc003bza.3_Silent_p.E325E|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	447						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						TCTTGGATGAGGAAGGTGGGA	0.537000														32			3		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106166531	106166531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:106166531G>A	uc001kyh.3	+	14	2370	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	746										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)		AGAGGTGGTTGAAAAAGAGCT	0.458000														83			7		0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249759	110249759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:110249759G>A	uc004bdh.3	-	2	1510	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	KLF4_uc004bdf.2_Missense_Mutation_p.P256S|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.P306S	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	306	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGCCCCAGGGGGAAGTCGTGT	0.682000														17			4		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106737216	106737216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:106737216G>A	uc001kyi.1	+	3	1146	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	307						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)		TCCCAAGCAAGAGGACTGGGT	0.453000														48			4		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477392	88477392	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:88477392C>T	uc021rxh.1	+	0	201	c.201C>T	c.(199-201)ctC>ctT	p.L67L	GPR65_uc001xvv.3_Silent_p.L67L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	67					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CATTAACTCTCCCTTTATGGA	0.388000														92			11		0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96333775	96333775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:96333775C>T	uc009xuo.3	+	7	641	c.536C>T	c.(535-537)tCg>tTg	p.S179L	HELLS_uc001kjs.3_Missense_Mutation_p.S163L|HELLS_uc001kjt.3_Missense_Mutation_p.S179L|HELLS_uc009xul.3_Missense_Mutation_p.S179L|HELLS_uc009xum.3_Missense_Mutation_p.S179L|HELLS_uc009xun.3_Missense_Mutation_p.S55L|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.S41L|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	179					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AATAAAGATTCGAATAGTATA	0.333000														113			13		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7759080	7759080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:7759080G>A	uc002cys.2	+	14	2006	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	RBFOX1_uc002cyt.2_Missense_Mutation_p.D313N|RBFOX1_uc010uxz.1_Missense_Mutation_p.D383N|RBFOX1_uc010uya.1_Silent_p.P314P|RBFOX1_uc010uyb.1_Missense_Mutation_p.D340N|RBFOX1_uc002cyw.2_Silent_p.P378P|RBFOX1_uc002cyy.2_Missense_Mutation_p.D361N|RBFOX1_uc002cyx.2_Missense_Mutation_p.D361N|RBFOX1_uc010uyc.1_Missense_Mutation_p.D334N	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	340					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						TTATGCTGCCGACCCCTACCA	0.473000														122			8		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37264597	37264597	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:37264597C>T	uc022abv.1	-	8	1298	c.588G>A	c.(586-588)tcG>tcA	p.S196S	ELMO1_uc011kbc.2_Silent_p.S100S|ELMO1_uc003tfk.2_Silent_p.S196S|ELMO1_uc010kxg.2_Silent_p.S196S	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	196					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S196S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCTGCAGGATCGAGATGTCTA	0.502000														37			3		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96019413	96019413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:96019413C>T	uc004ati.1	+	9	2374	c.2374C>T	c.(2374-2376)Cct>Tct	p.P792S	WNK2_uc011lud.1_Missense_Mutation_p.P792S|WNK2_uc004atj.3_Missense_Mutation_p.P792S|WNK2_uc004atk.3_Missense_Mutation_p.P429S|WNK2_uc010mrc.1_Missense_Mutation_p.P740S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	792					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						TGCTCAAGTCCCTCCGCAGGT	0.667000														35			8		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69949036	69949036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:69949036C>T	uc010kak.3	+	18	3008	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F	BAI3_uc003pev.4_Missense_Mutation_p.S911F|BAI3_uc011dxx.2_Missense_Mutation_p.S117F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	911					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTGAGAGATCCATAATACTA	0.363000														163			16		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39905798	39905798	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:39905798G>A	uc010xuz.2	+	2	601	c.276G>A	c.(274-276)gtG>gtA	p.V92V	TRNA_Ile_uc021uul.1_5'Flank|PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Silent_p.V92V|PLEKHG2_uc010xva.2_5'Flank	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	92					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTCCGGTGGGGATCCCAG	0.672000														17			3		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39128403	39128403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:39128403C>T	uc003xmt.4	+	19	2416	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	ADAM32_uc011lch.2_Missense_Mutation_p.S625L|ADAM32_uc003xmu.4_Intron|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	724					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATCTAAATCGGAAGGTAGC	0.289000														24			3		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732789	179732789	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179732789G>A	uc002une.2	-	15	2656	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S	CCDC141_uc002unf.1_Silent_p.S325S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	271	Ig-like.						protein binding	p.S271S(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)			CGACTCCTAAGGAAAGGGCCA	0.507000														46			4		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199981	155199981	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:155199981T>A	uc021xge.1	-	22	4135	c.3858A>T	c.(3856-3858)aaA>aaT	p.K1286N	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1248N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1286					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCATCTGGTTTGGTTTTAG	0.478000														203			9		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128671	103128671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103128671C>T	uc002tbz.4	+	6	1955	c.1498C>T	c.(1498-1500)Cac>Tac	p.H500Y		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	500					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCTGATGGATCACTTAAAGGC	0.443000														136			8		0	0	1	0	0
TOMM40	10452	broad.mit.edu	37	19	45404058	45404058	+	Missense_Mutation	SNP	C	T	T	rs142412517	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:45404058C>T	uc002paa.4	+	5	911	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	TOMM40_uc002ozz.3_Missense_Mutation_p.R239W|TOMM40_uc002ozx.4_Missense_Mutation_p.R239W|TOMM40_uc002ozy.4_Missense_Mutation_p.R239W	NM_001128917	NP_006105	O96008	TOM40_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GGTCTACCACCGGCGGCCTGG	0.622000														72			8		0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220135009	220135009	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:220135009C>T	uc002vkv.1	+	2	309	c.144C>T	c.(142-144)acC>acT	p.T48T	TUBA4B_uc002vku.3_Non-coding_Transcript					Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA.																		GCCACTACACCATTGGGAAGG	0.532000														23			3		0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479176	78479176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:78479176G>A	uc001dij.3	+	1	812	c.653G>A	c.(652-654)aGa>aAa	p.R218K	DNAJB4_uc010orn.2_Missense_Mutation_p.R103K	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	218					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ACTTTTCCAAGAGAAGGAGAT	0.338000														44			7		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056793	120056793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:120056793G>A	uc001ehv.1	+	3	792	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	216					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TCAAGTGTTGGAAAGTTCTCC	0.522000														58			5		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577276	9577276	+	Missense_Mutation	SNP	G	A	A	rs150203893		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9577276G>A	uc002mlp.1	-	9	2557	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	ZNF560_uc010dwr.1_Missense_Mutation_p.R677C	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTGCAATACGAGCTGAGAAA	0.418000														74			5		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730652	92730652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92730652C>T	uc003umf.3	-	2	5029	c.4759G>A	c.(4759-4761)Gaa>Aaa	p.E1587K	SAMD9_uc003umg.3_Missense_Mutation_p.E1587K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1587K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1587						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)			TAAACAATTTCAATGTCATAA	0.393000														127			15		0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32298412	32298412	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:32298412G>A	uc002wzv.3	-	2	447	c.324C>T	c.(322-324)gcC>gcT	p.A108A	PXMP4_uc002wzw.3_Intron|PXMP4_uc010zuh.2_Missense_Mutation_p.P115L	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	Homo sapiens peroxisomal membrane protein 4, 24kDa (PXMP4), transcript variant 1, mRNA.	108						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCCCGAGGAAGGCCGCCAGGA	0.562000														142			16		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579230	33579230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:33579230C>T	uc001rll.1	-	1	649	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	118						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)					TTTTCATTTTCCTTAATTTCT	0.408000														69			9		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70847596	70847596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70847596G>A	uc003pfc.1	+	18	1520	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	COL19A1_uc010kam.2_Missense_Mutation_p.G364E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	468	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACTACCAGGATTTCCAGGG	0.388000														106			7		0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65421405	65421405	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65421405A>G	uc002aol.3	-	1	1029	c.974T>C	c.(973-975)tTg>tCg	p.L325S		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	Homo sapiens programmed cell death 7 (PDCD7), mRNA.	325					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CAGTTTCCTCAATTTCTCCAA	0.478000														449			38		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102815	61102815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:61102815C>T	uc001vhz.4	+	10	1965	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	TDRD3_uc010aef.2_Missense_Mutation_p.P218S|TDRD3_uc001via.3_Missense_Mutation_p.P393S|TDRD3_uc010aeg.3_Missense_Mutation_p.P486S|TDRD3_uc001vib.4_Missense_Mutation_p.P392S	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	393					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TACTTCATATCCTTTAGGTTC	0.373000														61			4		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576904	28576904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28576904C>T	uc002kwj.4	-	14	2501	c.2346G>A	c.(2344-2346)atG>atA	p.M782I	DSC3_uc002kwi.4_Missense_Mutation_p.M782I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	782					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)			TTCCTCCTTTCATCATTTCAA	0.498000														33			3		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117644132	117644132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117644132C>T	uc001egy.3	+	22	3495	c.3475C>T	c.(3475-3477)Ctt>Ttt	p.L1159F		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	1159					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCTCAGAGTCCTTTTTGGCAT	0.443000														230			14		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223450	35223450	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35223450G>A	uc001bxu.3	+	1	619	c.519G>A	c.(517-519)gtG>gtA	p.V173V	GJB5_uc021okz.1_Silent_p.V173V|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	173					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCAATATAGTGGACTGCTTCA	0.512000														62			6		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127821555	127821555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:127821555C>T	uc002tns.2	-	7	1036	c.652G>A	c.(652-654)Gag>Aag	p.E218K	BIN1_uc010yzf.2_Missense_Mutation_p.E163K|BIN1_uc002tnt.2_Missense_Mutation_p.E187K|BIN1_uc010yzg.2_Missense_Mutation_p.E218K|BIN1_uc002tnu.2_Missense_Mutation_p.E187K|BIN1_uc002tnv.2_Missense_Mutation_p.E218K|BIN1_uc002tnw.2_Missense_Mutation_p.E187K|BIN1_uc002tnx.2_Missense_Mutation_p.E187K|BIN1_uc002tny.2_Missense_Mutation_p.E218K|BIN1_uc002tnz.2_Missense_Mutation_p.E187K|BIN1_uc002toa.2_Missense_Mutation_p.E187K|BIN1_uc002tob.2_Missense_Mutation_p.E187K|BIN1_uc002toc.2_Missense_Mutation_p.E187K	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	218	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACATTCATCTCCTCAAACACC	0.652000														115			11		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204120	9204120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9204120C>T	uc010xkj.2	+	0	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCAACCTGTCCCTGGTTGAT	0.557000														147			16		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66883216	66883216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:66883216G>A	uc002jhq.3	-	25	3711	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F	ABCA8_uc002jhp.3_Missense_Mutation_p.S1084F|ABCA8_uc010wqq.2_Missense_Mutation_p.S1124F|ABCA8_uc010wqr.2_Missense_Mutation_p.S1063F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1084						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I1124I(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGATGAAGGAAATCACGTA	0.333000														75			5		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874839	39874839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:39874839C>T	uc003opb.3	-	9	1343	c.1205G>A	c.(1204-1206)tGg>tAg	p.W402*	MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Nonsense_Mutation_p.W299*	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	402					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGCGGGTCCCAGGAGAAAAT	0.498000														64			6		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65822412	65822412	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:65822412A>T	uc002jgf.3	+	0	633	c.572A>T	c.(571-573)gAa>gTa	p.E191V	BPTF_uc002jge.3_Missense_Mutation_p.E191V|BPTF_uc010wqm.1_Missense_Mutation_p.E191V	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	191					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACTGCACGGAAAGCAGCTTC	0.587000														97			5		0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1341166	1341167	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1341166_1341167GG>AA	uc010nyn.1	-	2	394_395	c.298_299CC>TT	c.(298-300)cca>TTa	p.P100L	MRPL20_uc001afo.4_Intron	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	0							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAATTTCAGTGGGACCCACATA	0.515000														150			29		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53203218	53203218	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53203218C>A	uc001saz.3	-	3	1005	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	261						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GACTGTCCACCTTGGCCTCCA	0.547000														168			6		0.000157383	0.000158227	1	1	0
WDR49	151790	broad.mit.edu	37	3	167319987	167319987	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:167319987G>A	uc003fev.1	-	2	484	c.180C>T	c.(178-180)ggC>ggT	p.G60G	WDR49_uc011bpd.1_Silent_p.G113G|WDR49_uc003few.1_Silent_p.G401G	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	60										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGCTGAGTGGCCCCAAAGGA	0.373000														49			8		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324301	7324301	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7324301C>T	uc001mfe.3	+	1	414	c.177C>T	c.(175-177)gtC>gtT	p.V59V	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	59						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCCTTGTGGTCACTGCCTGTG	0.552000														113			9		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898331	36898331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36898331G>A	uc003cgj.3	-	11	2998	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	917					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGTTGTAGGCATTGCAGAT	0.478000														41			6		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280848	47280848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47280848C>T	uc001cqn.4	+	7	1069	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	CYP4B1_uc009vyl.1_Missense_Mutation_p.L165F|CYP4B1_uc001cqm.4_Missense_Mutation_p.L328F|CYP4B1_uc009vym.3_Missense_Mutation_p.L314F|CYP4B1_uc010omk.2_Missense_Mutation_p.L165F	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	328			Y -> S (in dbSNP:rs12094024).		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)					CTCCTGGTTTCTCTACTGCAT	0.537000														60			11		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389748	22389748	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:22389748G>A	uc003gqm.1	-	18	3811	c.3546C>T	c.(3544-3546)agC>agT	p.S1182S	GPR125_uc010ieo.1_Silent_p.S1038S|GPR125_uc003gql.1_Silent_p.S309S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1182					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTGTGAGTCGGCTTGCCCGGT	0.493000														43			5		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749422	196749422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:196749422G>A	uc002utj.4	-	34	5751	c.5650C>T	c.(5650-5652)Cga>Tga	p.R1884*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1884					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCGAGTTCGATCTGAAATT	0.358000														79			6		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7576897G>A	uc002gim.2	-	8	1143	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.Q317*|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Nonsense_Mutation_p.Q185*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q185*|TP53_uc002gii.1_Nonsense_Mutation_p.Q185*|TP53_uc010cni.1_Nonsense_Mutation_p.Q317*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q317*|TP53_uc002gij.2_Nonsense_Mutation_p.Q317*|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(53)|p.0?(8)|p.Q317K(6)|p.P316P(2)|p.Q317fs*28(2)|p.Q317R(2)|p.Q317fs*45(2)|p.Q317fs*19(2)|p.S315fs*22(1)|p.?(1)|p.Q317fs*?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.P316fs*21(1)|p.P316L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTTTGGCTGGGGAGAGGAG	0.473000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				78			7		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189458	44189458	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:44189458C>T	uc003tkl.2	-	6	1050	c.580_splice	c.e6-1	p.D194_splice	GCK_uc003tkj.1_Splice_Site_p.D193_splice|GCK_uc003tkk.1_Splice_Site_p.D195_splice	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	194					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATTTCAAAGTCCTGCCAAGAA	0.597000														112			10		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53011862	53011862	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53011862C>T	uc001sas.3	-	1	482	c.447_splice	c.e1+1	p.K149_splice		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	149	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAAGACCCACCTTGTCAATGA	0.527000														136			10		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312854	52312854	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52312854G>A	uc001rzj.3	+	8	1615	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	ACVRL1_uc001rzk.3_Silent_p.V444V|ACVRL1_uc010snm.2_Silent_p.V270V	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	444	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGTGTGTGTGGATCAGCAGA	0.577000														92			6		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66384348	66384348	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:66384348C>T	uc001dcn.3	+	2	302	c.111C>T	c.(109-111)atC>atT	p.I37I	PDE4B_uc009war.3_Intron|PDE4B_uc001dco.3_Silent_p.I37I	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	37					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.I37I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CACTTGGGATCGACCTCTGGA	0.438000														74			10		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31879718	31879718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31879718C>T	uc002wyw.1	+	5	682	c.521C>T	c.(520-522)tCc>tTc	p.S174F	BPIFB1_uc010gej.1_Missense_Mutation_p.S174F	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	174						extracellular space	lipid binding										GAAAGGCTCTCCTTCCTGGTG	0.527000											OREG0025868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			5		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897539	5897539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:5897539C>T	uc002wmg.3	+	2	470	c.164C>T	c.(163-165)cCt>cTt	p.P55L	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	55						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						CCCATCACCCCTGAGTGCCGC	0.567000														127			14		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408083	40408083	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40408083G>A	uc002omp.4	-	8	4646	c.4638C>T	c.(4636-4638)tcC>tcT	p.S1546S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1546	Cys-rich.|TIL 3.					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)			AGCAGCCCAGGGAGCAGGTGT	0.652000														54			9		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611571	61611571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:61611571C>T	uc002jay.3	+	4	1080	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	KCNH6_uc002jax.1_Missense_Mutation_p.P334S|KCNH6_uc010wpl.2_Missense_Mutation_p.P211S|KCNH6_uc010wpm.2_Missense_Mutation_p.P334S|KCNH6_uc002jaz.1_Missense_Mutation_p.P334S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	334					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGTCAGCCACCCCCGCCGCAT	0.567000														127			5		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151867	73151867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:73151867C>T	uc004aid.3	-	24	4370	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	TRPM3_uc004ahu.3_Missense_Mutation_p.E1218K|TRPM3_uc004ahv.3_Missense_Mutation_p.E1178K|TRPM3_uc004ahw.3_Missense_Mutation_p.E1248K|TRPM3_uc004ahx.3_Missense_Mutation_p.E1235K|TRPM3_uc004ahy.3_Missense_Mutation_p.E1238K|TRPM3_uc004ahz.3_Missense_Mutation_p.E1225K|TRPM3_uc004aia.3_Missense_Mutation_p.E1223K|TRPM3_uc004aib.3_Missense_Mutation_p.E1213K|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1401						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTTTGGGTTCTTTTGCTACA	0.448000														105			20		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117560945	117560945	+	Nonsense_Mutation	SNP	C	T	T	rs140225271		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:117560945C>T	uc010oxb.1	+	5	1838	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	CD101_uc009whd.3_Nonsense_Mutation_p.R594*|CD101_uc010oxc.1_Nonsense_Mutation_p.R594*|CD101_uc010oxd.1_Nonsense_Mutation_p.R532*	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	594	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R594Q(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCAGCTTATTCGAATCACCCA	0.502000														61			9		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45658282	45658282	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:45658282C>G	uc001zvc.3	-	5	1269	c.940G>C	c.(940-942)Ggt>Cgt	p.G314R	GATM_uc001zvb.3_Missense_Mutation_p.G185R|GATM_uc010uev.1_Missense_Mutation_p.G367R	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	314					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AGCACAATACCAGGTCCAATG	0.433000														90			11		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17752357	17752357	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17752357G>A	uc021uqk.1	-	20	2520	c.2478C>T	c.(2476-2478)ttC>ttT	p.F826F		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	827					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCACGAAGTGGAACAGGTTCT	0.572000														76			4		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25637940	25637940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:25637940G>A	uc011awl.2	+	7	1267	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	RARB_uc003cdi.2_Missense_Mutation_p.E282K|RARB_uc003cdh.3_Missense_Mutation_p.E394K	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	401	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTTGAAAATGGAAATTCCTGG	0.413000														85			11		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165801865	165801865	+	Silent	SNP	G	A	A	rs139267725		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:165801865G>A	uc003qun.3	-	17	1949	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.F498F|PDE10A_uc003quo.3_Silent_p.F578F	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	568					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GAGGGTGGTCGAACTTCTGCA	0.537000														103			10		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103629	53103629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:53103629C>T	uc003tpz.3	+	0	281	c.265C>T	c.(265-267)Ccg>Tcg	p.P89S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	89								p.P89P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCGCCAAGCCGCAGCGGGT	0.692000														27			4		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101740241	101740241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:101740241G>A	uc001tia.1	+	37	4915	c.4759G>A	c.(4759-4761)Gca>Aca	p.A1587T		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1587					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCACAGAAGAGCAAGAGCCTT	0.358000														54			5		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595250	8595250	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8595250C>T	uc002mkg.3	-	21	2297	c.2159_splice	c.e21-1	p.A720_splice		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	720	IQ.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATGTTGGAAGCTGCGGGGACA	0.642000														236			13		0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146108125	146108125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:146108125C>T	uc003zeq.4	-	5	575	c.458G>A	c.(457-459)aGg>aAg	p.R153K	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.R148K|ZNF250_uc010mgg.3_Missense_Mutation_p.R148K	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGATCAATCCTCCCCAAGGG	0.433000														179			15		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043898	35043898	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35043898G>A	uc003zvw.3	+	1	1301	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	C9orf131_uc003zvu.3_Nonsense_Mutation_p.W376*|C9orf131_uc003zvv.3_Nonsense_Mutation_p.W351*|C9orf131_uc003zvx.3_Nonsense_Mutation_p.W389*	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	424										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAAACCTCTGGGCTTTTGAGT	0.532000														70			8		0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101099714	101099714	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:101099714G>A	uc002tan.1	+	10	457	c.450_splice	c.e10-1	p.Q150_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	150					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTTTTTTTAGGATTCAGTGGT	0.338000														34			6		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824907	74824907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:74824907C>T	uc021rwl.1	+	0	1421	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	VRTN_uc001xpw.4_Missense_Mutation_p.P474L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	474					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTGTAATTCCTTGGAAGAGT	0.652000														86			10		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71953006	71953006	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:71953006C>T	uc002atb.1	+	6	1369	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	THSD4_uc002atd.1_Silent_p.V104V|THSD4_uc010ukg.1_Silent_p.V70V|THSD4_uc002ate.2_Silent_p.V70V	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	430						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCACCGCGTCGTGGAGATTC	0.532000														103			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600503	179600503	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179600503G>T	uc021vsy.1	-	46	11163	c.10938C>A	c.(10936-10938)ttC>ttA	p.F3646L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F307L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4573	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTTTAATGAAATGTGGCT	0.413000														16			4		0.0215528	0.0216132	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227843146	227843146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:227843146C>T	uc021pjy.1	+	3	1536	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	ZNF678_uc001hqw.2_Missense_Mutation_p.H399Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	454					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAGGAGAATTCATACTGGAGT	0.383000														36			4		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803313	113803313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:113803313G>A	uc001vsx.3	+	7	1006	c.949G>A	c.(949-951)Gag>Aag	p.E317K	F10_uc001vsy.3_Silent_p.R313R	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	317	Peptidase S1.				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)	GTTCACAAAGGAGACCTATGA	0.647000														269			26		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324551	62324551	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:62324551C>T	uc021wge.1	+	28	3077	c.2907C>T	c.(2905-2907)atC>atT	p.I969I	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.I969I|RTEL1_uc011abd.2_Silent_p.I993I|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Silent_p.I746I|RTEL1_uc002yfx.1_Silent_p.I214I|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	969					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGGTCTGTATCCAGCTGACAG	0.602000														185			22		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008252	16008252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16008252C>T	uc002nbs.1	-	1	220	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	57					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAACCAGTTCCGTCTTGGGGG	0.617000														163			15		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072975	98072975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:98072975C>T	uc011bgv.2	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGAATTATTTCCCTGTATGAA	0.433000														240			9		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138000129	138000129	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:138000129G>A	uc002tva.1	+	8	2160	c.2160G>A	c.(2158-2160)agG>agA	p.R720R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.R610R	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)		CCTGCCCAAGGATGTGCCAAG	0.478000														45			6		0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47640420	47640420	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:47640420T>C	uc010rho.2	-	12	1066	c.877A>G	c.(877-879)Aag>Gag	p.K293E	MTCH2_uc010rhp.2_Missense_Mutation_p.K145E	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	293					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CAATAAGTCTTCCCAAAGGGG	0.403000														151			14		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119611922	119611922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:119611922C>T	uc003pym.1	-	4	1265	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	MAN1A1_uc010kei.2_Missense_Mutation_p.E298K	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	275					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACAGAAATTTCAGCATTCTAT	0.294000														43			6		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266134	48266134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48266134G>A	uc002iqm.3	-	41	3194	c.3068C>T	c.(3067-3069)tCc>tTc	p.S1023F		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1023	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCGTCCAGGGGAACCTTCGGC	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							106			9		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39224437	39224437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39224437C>T	uc003awk.3	-	1	859	c.705G>A	c.(703-705)atG>atA	p.M235I		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	235						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CCAGCTGGTCCATCTTGGAGT	0.647000														27			5		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65494255	65494255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65494255C>T	uc002aon.2	-	7	1322	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	381	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCCCAGCATCACTCTGGGCC	0.577000														64			9		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025618	16025618	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16025618A>G	uc002nbu.2	-	9	1239	c.1203T>C	c.(1201-1203)tgT>tgC	p.C401C	CYP4F11_uc010eab.1_Silent_p.C401C|CYP4F11_uc002nbt.2_Silent_p.C401C	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	401					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCTGCGTGCAACATCGGGAGA	0.622000														144			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719148	140719148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140719148G>A	uc003ljk.2	+	0	795	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E204K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGCGAGGAAGAGGCTGT	0.597000														91			8		0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74784195	74784195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74784195G>A	uc002sms.3	+	4	1770	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	DOK1_uc002smr.3_Missense_Mutation_p.R328K|DOK1_uc010ffo.3_Missense_Mutation_p.R328K|DOK1_uc002smt.3_Missense_Mutation_p.R253K|DOK1_uc002smu.3_Missense_Mutation_p.R253K|DOK1_uc010yrz.2_Missense_Mutation_p.R456K|DOK1_uc002smw.1_Missense_Mutation_p.R253K	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	467					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGCTCTCTAGAGTAGGGACT	0.602000														62			13		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645469	167645469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:167645469G>A	uc010jjd.3	+	22	4546	c.4546G>A	c.(4546-4548)Gat>Aat	p.D1516N	ODZ2_uc003lzr.4_Missense_Mutation_p.D1286N|ODZ2_uc003lzt.4_Missense_Mutation_p.D889N|ODZ2_uc010jje.3_Missense_Mutation_p.D780N	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGCAAAAACGATGTCAATTG	0.488000														181			20		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560590	44560590	+	Missense_Mutation	SNP	C	T	T	rs2571029		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44560590C>T	uc002lcr.1	-	0	1399	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	349					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGTGGCTTCCCCTCTTGAGT	0.587000														65			5		0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94420665	94420665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94420665C>T	uc001ycd.3	-	3	846	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	ASB2_uc001ycc.2_Missense_Mutation_p.R111Q|ASB2_uc001yce.1_Missense_Mutation_p.R57Q	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	111					intracellular signal transduction			p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612000														132			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201627	140201627	+	Silent	SNP	C	T	T	rs148967528	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140201627C>T	uc003lhl.2	+	0	267	c.267C>T	c.(265-267)atC>atT	p.I89I	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_Silent_p.I89I|PCDHAC2_uc003lhj.1_Silent_p.I89I	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	105	Cadherin 1.				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)			ATTCTCGGATCGACCGGGAGG	0.627000														295			13		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21924006	21924006	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:21924006A>C	uc003svc.3	+	76	12537	c.12506A>C	c.(12505-12507)gAa>gCa	p.E4169A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4169					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTATTTAGAAGAATTCATG	0.358000									Kartagener syndrome					46			6		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377943	28377943	+	Silent	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:28377943C>A	uc001zbj.3	-	79	12370	c.12264G>T	c.(12262-12264)ctG>ctT	p.L4088L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4088					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S4087F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAATTCCTCTCAGAGACTCGA	0.498000														162			14		1.00905e-13	1.0215e-13	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13841810	13841810	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13841810G>A	uc003jfd.2	-	32	5517	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1824F(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)					CCTGAGCAGGGAAGGATGAAA	0.358000									Kartagener syndrome					49			3		0	0	1	0	0
WDR67	93594	broad.mit.edu	37	8	124113183	124113183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124113183C>T	uc003ypp.2	+	6	1058	c.968C>T	c.(967-969)tCt>tTt	p.S323F	WDR67_uc011lig.2_Missense_Mutation_p.S323F|WDR67_uc011lih.2_Missense_Mutation_p.S213F|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Missense_Mutation_p.S36F|WDR67_uc003ypo.1_Missense_Mutation_p.S323F|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	323						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TACATTGCATCTATTATGGAA	0.343000														53			3		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873383	26873383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26873383C>T	uc001bmr.1	+	2	297	c.134C>T	c.(133-135)tCc>tTc	p.S45F	RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Missense_Mutation_p.S29F|RPS6KA1_uc001bms.1_Missense_Mutation_p.S54F|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	45					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGGAGATCTCCATCACGCAC	0.592000														41			7		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19431801	19431801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19431801C>T	uc002nmk.4	+	0	172	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	SUGP1_uc002nmh.3_5'Flank|SUGP1_uc002nmi.3_5'Flank|SUGP1_uc002nmj.3_5'Flank|SUGP1_uc010xqr.2_5'Flank|SUGP1_uc010xqs.2_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	45	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCCCAAAATCCGCCTGTGCGT	0.687000														19			3		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609683	84609683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:84609683C>T	uc004amn.3	+	3	4345	c.4298C>T	c.(4297-4299)tCc>tTc	p.S1433F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1433						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GAGCCCCTTTCCTTCCCAGTG	0.547000														44			3		0	0	1	0	0
COPS7A	50813	broad.mit.edu	37	12	6837404	6837404	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6837404T>G	uc001qqj.3	+	3	493	c.254T>G	c.(253-255)cTt>cGt	p.L85R	COPS7A_uc001qqh.3_Missense_Mutation_p.L85R|COPS7A_uc001qqi.3_Missense_Mutation_p.L85R|COPS7A_uc001qqn.4_Missense_Mutation_p.L85R	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	85	PCI.				cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						GCCCGGAATCTTCCTCCACTA	0.507000														58			7		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941065	52941065	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52941065G>A	uc001cty.2	-	12	2419	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	ZCCHC11_uc001ctx.2_Silent_p.F722F|ZCCHC11_uc009vze.1_Silent_p.F722F|ZCCHC11_uc009vzf.1_Silent_p.F481F|ZCCHC11_uc001cub.3_Silent_p.F722F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	722					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTCTTTTCTTGAAATCCACTG	0.418000														130			21		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98192651	98192651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98192651G>A	uc001kml.2	-	3	674	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	TLL2_uc009xvf.2_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	145					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CGGACCCGGGGAGAGAAGGTC	0.552000														63			4		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350470	7350470	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7350470G>A	uc002ghb.3	+	5	503	c.462_splice	c.e5+1	p.Q154_splice	CHRNB1_uc010vty.2_Splice_Site_p.Q82_splice|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	154					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GCAGCATCCAGGTTTCCGGCC	0.582000														49			3		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45195025	45195025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:45195025G>A	uc002xsf.2	-	10	1377	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	SLC13A3_uc010ghn.2_Missense_Mutation_p.S415L|SLC13A3_uc010zxx.2_Missense_Mutation_p.S348L|SLC13A3_uc010zxw.2_Missense_Mutation_p.S396L|SLC13A3_uc002xsg.2_Missense_Mutation_p.S399L|SLC13A3_uc010gho.2_Missense_Mutation_p.S364L|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Missense_Mutation_p.S33L|SLC13A3_uc010zxv.2_Missense_Mutation_p.S31L	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	446						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.S446L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGACAGCCCCGATTCCTGCGG	0.597000														140			13		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947271	165947271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:165947271C>T	uc002ucx.3	-	27	5884	c.5392G>A	c.(5392-5394)Gaa>Aaa	p.E1798K	SCN3A_uc010zcy.2_Missense_Mutation_p.E281K|SCN3A_uc002ucy.3_Missense_Mutation_p.E1749K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1749K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1798						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.W1797*(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAAACTTTTCCCAAACCTCA	0.463000														69			10		0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34660931	34660931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:34660931C>T	uc003zvi.3	+	11	2606	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	IL11RA_uc011loq.2_Missense_Mutation_p.P417L|IL11RA_uc003zvk.3_Missense_Mutation_p.P417L|IL11RA_uc010mke.3_Missense_Mutation_p.P299L	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	417						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GACAGGCGTCCAGGTGAGTAG	0.527000														105			7		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072559	108072559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108072559G>A	uc003dwz.3	+	3	764	c.350G>A	c.(349-351)gGa>gAa	p.G117E	HHLA2_uc011bhl.2_Missense_Mutation_p.G53E|HHLA2_uc010hpu.3_Missense_Mutation_p.G117E|HHLA2_uc003dwy.4_Missense_Mutation_p.G117E	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	117	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTGGACGAAGGAATTTACACC	0.403000														28			3		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257282	105257282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105257282G>A	uc003yls.3	+	23	3768	c.3527G>A	c.(3526-3528)gGa>gAa	p.G1176E	RIMS2_uc003ylp.3_Missense_Mutation_p.G1158E|RIMS2_uc003ylw.2_Missense_Mutation_p.G1165E|RIMS2_uc003ylq.3_Missense_Mutation_p.G972E|RIMS2_uc003ylr.3_Missense_Mutation_p.G997E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1220					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.G1176E(1)|p.G972E(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCAGAAGGAAAGTGAGTG	0.498000										HNSCC(12;0.0054)				83			5		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611661	50611661	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:50611661C>T	uc003tpg.4	-	1	324	c.123G>A	c.(121-123)ctG>ctA	p.L41L	DDC_uc022ade.1_Silent_p.L41L|DDC_uc003tpf.4_Silent_p.L41L|DDC_uc022adb.1_Silent_p.L41L|DDC_uc022adc.1_Silent_p.L41L|DDC_uc022add.1_Silent_p.L41L|DDC_uc022adf.1_Silent_p.L41L	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	41					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CGGCAGGGATCAGCGGCCGCA	0.572000														231			20		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100366238	100366238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:100366238C>T	uc001dsi.1	+	25	3809	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S	AGL_uc001dsj.1_Missense_Mutation_p.P1137S|AGL_uc001dsk.1_Missense_Mutation_p.P1137S|AGL_uc001dsl.1_Missense_Mutation_p.P1137S|AGL_uc001dsm.1_Missense_Mutation_p.P1121S|AGL_uc001dsn.1_Missense_Mutation_p.P1120S	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1137					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)		TGGTCTCATTCCTAATCTACT	0.388000														251			44		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:130762527G>A	uc003qcb.3	+	1	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_uc003qca.3_Silent_p.R320R|TMEM200A_uc010kfh.3_Silent_p.R320R|TMEM200A_uc010kfi.3_Silent_p.R320R|TMEM200A_uc021zfg.1_Silent_p.R320R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000														52			7		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24580302	24580302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24580302G>A	uc002dmh.3	+	16	3331	c.2291G>A	c.(2290-2292)aGa>aAa	p.R764K	RBBP6_uc010vcb.1_Missense_Mutation_p.R631K|RBBP6_uc002dmi.3_Missense_Mutation_p.R730K|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.R597K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	764					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCCCCTTACAGACGCTATCAT	0.463000														38			4		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257718	77257718	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:77257718C>T	uc004aji.3	+	3	706	c.657C>T	c.(655-657)acC>acT	p.T219T	RORB_uc004ajh.3_Silent_p.T208T	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	219	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						CAGGGATAACCATGACTGAAA	0.393000														99			9		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32397417	32397417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:32397417G>A	uc003jhr.1	-	9	1821	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	581					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CAATGGAACCGAATTACTTTT	0.343000														53			6		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566516	4566516	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4566516C>T	uc010qyf.2	+	0	96	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCATCCCCTTTGGCTCCA	0.542000														56			7		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39537338	39537338	+	Silent	SNP	C	T	T	rs145004450		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39537338C>T	uc002hwm.3	-	2	696	c.684G>A	c.(682-684)gaG>gaA	p.E228E		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	228	Coil 1B.|Rod.				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)				AGCAGATCAGCTCCTCCCTCA	0.512000														199			10		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046492	17046492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:17046492G>A	uc001azn.1	-	0	161	c.47C>T	c.(46-48)cCc>cTc	p.P16L						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CCTCAGGGAGGGGAAGTCTCC	0.627000														78			7		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286504	240286504	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:240286504C>T	uc010pye.2	+	1	1866	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	FMN2_uc010pyd.2_Silent_p.F547F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	547					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAAGCTGTTCAGCCAGCAGG	0.547000														70			10		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186669990	186669990	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186669990G>A	uc002upl.3	+	16	16224	c.16224G>A	c.(16222-16224)ctG>ctA	p.L5408L	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAATTCTCTGATAAGGGAAT	0.299000														51			5		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763735	160763735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:160763735C>T	uc003lys.1	-	6	801	c.583G>A	c.(583-585)Gat>Aat	p.D195N	GABRB2_uc011deh.1_Missense_Mutation_p.D34N|GABRB2_uc003lyr.1_Missense_Mutation_p.D195N|GABRB2_uc003lyt.1_Missense_Mutation_p.D195N|GABRB2_uc021yhg.1_Missense_Mutation_p.D132N	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	195					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCATTATCATCGCCACGCCAG	0.353000														111			8		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626638	140626638	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140626638C>T	uc003lje.3	+	0	1492	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCCGCACCTGCCCCTCAC	0.667000														232			13		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611435	84611435	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84611435G>A	uc002bjz.4	+	17	2429	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E	ADAMTSL3_uc010bmt.1_Silent_p.E735E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	735	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCCAGGGGAGACCCCTGCCC	0.557000														70			10		0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24416695	24416695	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:24416695T>C	uc011djl.2	+	7	921	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L	MRS2_uc003nea.3_Silent_p.L264L|MRS2_uc003neb.3_Silent_p.L264L|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Silent_p.L214L	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	264					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGAGGAAGAGTTGCTAGAAGA	0.303000														161			17		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783338	43783338	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43783338G>A	uc001ciu.3	+	15	2901	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K	TIE1_uc010oke.2_Silent_p.K863K|TIE1_uc009vwq.3_Silent_p.K864K|TIE1_uc010okg.2_Silent_p.K553K	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	908	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCCTGTAAGAACCGAGGTG	0.557000														130			11		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149924	34149924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:34149924C>T	uc004ddg.3	-	0	524	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	158										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCTCCAGCTCCCTCTCAGGA	0.547000														24			4		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:147092834C>T	uc003weu.2	+	9	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(2)		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)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)				132			9		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142031486	142031486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142031486G>A	uc003eus.3	-	40	4839	c.4772C>T	c.(4771-4773)gCt>gTt	p.A1591V	XRN1_uc010huu.3_Missense_Mutation_p.A1045V|XRN1_uc003eut.3_Missense_Mutation_p.A1578V|XRN1_uc003euu.3_Missense_Mutation_p.A1579V	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1591					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TATTCCCCCAGCCATGGGCAT	0.433000														60			7		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105368387	105368387	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105368387G>A	uc003ylx.1	+	3	1423	c.1374G>A	c.(1372-1374)agG>agA	p.R458R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	458					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AAATGATTAGGAAGAAGCAAA	0.448000														47			3		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681863	55681863	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55681863G>A	uc010rir.2	-	0	196	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGAAAGACAGATGACTGAGG	0.398000														70			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429115	10429115	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10429115C>T	uc010coi.3	-	30	4394	c.4266G>A	c.(4264-4266)aaG>aaA	p.K1422K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K1422K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1422					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGCTTCGTCTTTTCGAGGG	0.517000														58			13		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055570	75055570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75055570C>T	uc001dgg.3	-	11	2140	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E435K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	641	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						ATTTCAATTTCTAAGGATTCC	0.408000														61			8		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350831	146350831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:146350831G>A	uc010khw.1	+	1	648	c.178G>A	c.(178-180)Gag>Aag	p.E60K	GRM1_uc010khu.1_Missense_Mutation_p.E60K|GRM1_uc010khv.1_Missense_Mutation_p.E60K|GRM1_uc003qll.2_Missense_Mutation_p.E60K|GRM1_uc011edz.1_Missense_Mutation_p.E60K|GRM1_uc011eea.1_Missense_Mutation_p.E60K	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	60					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCTCCGGCCGAGAAAGTGCC	0.592000														52			4		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113308069	113308069	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113308069G>A	uc003ynu.3	-	53	8766	c.8607C>T	c.(8605-8607)tcC>tcT	p.S2869S	CSMD3_uc003yns.3_Silent_p.S2071S|CSMD3_uc003ynt.3_Silent_p.S2829S|CSMD3_uc011lhx.2_Silent_p.S2700S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2869	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACGCACACAGGATGGGAGCT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				59			4		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926373	61926373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61926373C>T	uc001jky.3	-	22	2928	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	ANK3_uc001jkx.3_Missense_Mutation_p.E42K|ANK3_uc010qih.2_Missense_Mutation_p.E847K|ANK3_uc001jkz.4_Missense_Mutation_p.E858K|ANK3_uc001jlb.1_Intron|ANK3_uc001jlc.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	864					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						GAGATATATTCGCCATCACTG	0.303000														43			9		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242046056	242046057	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242046056_242046057CC>TT	uc002wao.2	-	17	4029_4030	c.3896_3897GG>AA	c.(3895-3897)ggg>gAA	p.G1299E	PASK_uc010zol.2_Missense_Mutation_p.G1113E|PASK_uc010zom.2_Missense_Mutation_p.G1264E|PASK_uc010fzl.2_Missense_Mutation_p.G1306E|PASK_uc010zon.2_Missense_Mutation_p.G1080E|PASK_uc021vzf.1_Missense_Mutation_p.G1299E	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1299					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAACGGGGCCCCCACAAAGCTC	0.569000														93			9		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779958	36779958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:36779958C>T	uc003cgi.2	-	1	684	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612000														132			11		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81966989	81966989	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:81966989G>A	uc003hmg.4	+	1	734	c.414G>A	c.(412-414)gaG>gaA	p.E138E		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	138					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GTATTGGAGAGCTAGGAAACA	0.418000														55			4		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055817	154055817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:154055817C>T	uc003faa.3	-	3	1967	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	623						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCACAAATTTCAAGAACCTCC	0.428000														55			6		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152720830	152720830	+	Silent	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152720830T>G	uc021zhb.1	-	45	7381	c.7158A>C	c.(7156-7158)atA>atC	p.I2386I	SYNE1_uc003qot.4_Silent_p.I2393I|SYNE1_uc003qou.4_Silent_p.I2386I|SYNE1_uc010kjb.1_Silent_p.I2369I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2386					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)		CATGTTTCTTTATCAGACCAG	0.507000										HNSCC(10;0.0054)				120			12		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431749	56431749	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56431749G>A	uc010rjm.2	+	0	588	c.588G>A	c.(586-588)gaG>gaA	p.E196E	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ACATCAGTGAGATCTTGCTCT	0.443000														91			13		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985637	61985637	+	Silent	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:61985637T>G	uc001vid.4	-	1	2959	c.2595A>C	c.(2593-2595)atA>atC	p.I865I	PCDH20_uc010thj.2_Silent_p.I865I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	838					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V864V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTTTCTCCTCTATATTAATCT	0.398000														44			4		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906683	164906683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164906683G>A	uc003fej.4	-	1	2380	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	SLITRK3_uc003fek.3_Missense_Mutation_p.P646S|SLITRK3_uc021xgy.1_Missense_Mutation_p.P646S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	646						integral to membrane		p.P646H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCCCAGGAGGAGAAAACTCA	0.532000										HNSCC(40;0.11)				37			4		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959919	157959919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:157959919G>A	uc003wno.3	-	5	735	c.614C>T	c.(613-615)cCt>cTt	p.P205L	PTPRN2_uc003wnp.3_Missense_Mutation_p.P188L|PTPRN2_uc003wnq.3_Missense_Mutation_p.P205L|PTPRN2_uc003wnr.3_Missense_Mutation_p.P167L|PTPRN2_uc011kwa.2_Missense_Mutation_p.P228L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	205						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGACCCGGGAGGGTAGGTCAG	0.632000														67			8		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9348939	9348939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:9348939G>A	uc001qvl.3	-	9	1108	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	PZP_uc009zgl.3_Missense_Mutation_p.P229L	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGCAAAAAAGGGGATTCCTTG	0.418000														73			8		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3686406	3686406	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:3686406C>T	uc001akv.2	+	10	1884	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	601										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGACCAAGTCCTTGGCCAACG	0.547000														156			11		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694180	67694180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67694180C>T	uc002etq.4	-	0	539	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	ACD_uc002etp.4_Missense_Mutation_p.A68T|ACD_uc002etr.4_Missense_Mutation_p.A68T|ACD_uc010vjt.1_Missense_Mutation_p.A58T|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	68					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCGCCCAGGCCCCGCCTTTC	0.731000														48			4		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891572	30891572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30891572C>T	uc003aid.2	-	3	332	c.232G>A	c.(232-234)Gag>Aag	p.E78K	SEC14L4_uc011akz.1_Missense_Mutation_p.E78K|SEC14L4_uc003aie.2_Missense_Mutation_p.E63K|SEC14L4_uc003aif.2_Missense_Mutation_p.E24K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	78	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGCTCACCTCAGGGGGCTGC	0.592000														165			50		0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150795738	150795738	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:150795738G>A	uc001evr.2	-	13	1527	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	ARNT_uc001evs.2_Silent_p.S427S|ARNT_uc009wmd.2_Silent_p.S427S|ARNT_uc009wmb.2_Silent_p.S428S|ARNT_uc009wmc.2_Silent_p.S442S|ARNT_uc009wme.2_Intron|ARNT_uc010pcl.2_Silent_p.S426S	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	442	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGTAAAGGAGCTGGTTCTCA	0.403000			T	ETV6	AML									93			17		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55623892	55623892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55623892C>T	uc003pcq.3	-	5	1838	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	BMP5_uc011dxf.2_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	376					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCAGCGTATCCTTCTGGTGCT	0.343000														75			6		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052357	44052357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:44052357G>A	uc001jaw.4	-	1	1824	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ZNF239_uc001jax.4_Missense_Mutation_p.R391C|ZNF239_uc009xmj.3_Missense_Mutation_p.R391C|ZNF239_uc009xmk.3_Missense_Mutation_p.R391C|ZNF239_uc021pph.1_Missense_Mutation_p.R391C	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	391					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						AGATGGATGCGAAGATCCGAG	0.522000														54			3		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069779	114069779	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:114069779G>A	uc003ebi.3	-	3	1326	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	ZBTB20_uc003ebj.3_Silent_p.S309S|ZBTB20_uc010hqp.3_Silent_p.S309S|ZBTB20_uc003ebk.3_Silent_p.S309S|ZBTB20_uc003ebl.3_Silent_p.S309S|ZBTB20_uc003ebm.3_Silent_p.S309S|ZBTB20_uc003ebn.3_Silent_p.S309S|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGCCTATGGAGGAGCTGA	0.652000														53			5		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93973581	93973581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:93973581G>A	uc003poe.3	-	8	2036	c.1795C>T	c.(1795-1797)Cat>Tat	p.H599Y	EPHA7_uc003pof.3_Missense_Mutation_p.H594Y|EPHA7_uc011eac.2_Missense_Mutation_p.H599Y	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	599						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACTTACAATGAAAGTAAAGC	0.348000														49			4		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560508	44560508	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44560508G>A	uc002lcr.1	-	0	1481	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	376					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGGCTGCTCGAATTCCTCAG	0.507000														92			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152776591	152776591	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152776591C>T	uc021zhb.1	-	21	3085	c.2862G>A	c.(2860-2862)ggG>ggA	p.G954G	SYNE1_uc003qot.4_Silent_p.G961G|SYNE1_uc003qou.4_Silent_p.G954G|SYNE1_uc010kjb.1_Silent_p.G937G|SYNE1_uc003qow.3_Silent_p.G249G|SYNE1_uc003qox.1_Silent_p.G470G|SYNE1_uc003qoz.2_Silent_p.G386G|SYNE1_uc003qoy.2_Silent_p.G521G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	954					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)		CCTCTGGATCCCCCTTTTCCT	0.507000										HNSCC(10;0.0054)				60			5		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423862	33423862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:33423862C>T	uc003oeq.3	+	1	1253	c.985C>T	c.(985-987)Cct>Tct	p.P329S	ZBTB9_uc021ywp.1_Missense_Mutation_p.P329S	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	329	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GTTCTTGTTGCCTTCAGGGCC	0.567000														85			11		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28885851	28885851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:28885851G>A	uc001usb.3	-	26	3796	c.3511C>T	c.(3511-3513)Cca>Tca	p.P1171S	FLT1_uc010aap.2_Missense_Mutation_p.P176S|FLT1_uc010aaq.2_Missense_Mutation_p.P296S|FLT1_uc001usa.3_Missense_Mutation_p.P389S	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.	1171					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCATTGATTGGGATGTAGTCT	0.388000														128			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089940	9089940	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9089940G>A	uc002mkp.3	-	0	2079	c.1875C>T	c.(1873-1875)caC>caT	p.H625H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	625	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T624T(1)		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						TGGTGAGTAGGTGGGTTGTGC	0.577000														86			5		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111435035	111435035	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:111435035C>T	uc001dzw.3	+	3	303	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CD53_uc001dzx.3_Silent_p.F44F|CD53_uc010owa.2_Silent_p.F44F	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	44					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		GAGTGCTCTTCCATAACCTCC	0.507000														85			12		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218945	42218945	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:42218945G>A	uc002orl.3	+	2	601	c.480G>A	c.(478-480)aaG>aaA	p.K160K	CEACAM5_uc010ehz.1_Silent_p.K160K|CEACAM5_uc002orj.1_Silent_p.K160K	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	160	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGAGGACAAGGATGCTGTGG	0.567000														213			10		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087336	5087336	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:5087336G>A	uc010cla.1	-	1	372	c.216C>T	c.(214-216)atC>atT	p.I72I	ZNF594_uc021tol.1_Silent_p.I72I	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTTTCTGGGGGATAATATGCA	0.448000														117			15		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73720567	73720567	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:73720567C>T	uc010ttx.2	+	10	1363	c.1200C>T	c.(1198-1200)gcC>gcT	p.A400A	PAPLN_uc001xnw.4_Silent_p.A373A|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.A400A	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	400	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCCAGGAGGCCGTGGAGGAGG	0.697000														67			5		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576594	115576594	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115576594G>A	uc001efs.1	+	3	231	c.163_splice	c.e3-1	p.D55_splice		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	55					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTTTCCCCAGGATATCAATGG	0.368000														165			17		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47835607	47835607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:47835607C>T	uc003tny.2	-	54	8369	c.8335G>A	c.(8335-8337)Gct>Act	p.A2779T	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2779					cell-cell adhesion	integral to membrane		p.E2778E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCATCTCAGCCTCTTCCAAC	0.398000														141			9		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900709	51900709	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:51900709C>T	uc002iua.2	+	0	471	c.315C>T	c.(313-315)gcC>gcT	p.A105A	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	105					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S104S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTCTTCGGCCATCAGGGACC	0.612000														234			19		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18234053	18234054	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:18234053_18234054CC>TA	uc002nhz.4	+	5	339_340	c.339_340CC>TA	c.(337-342)ctccac>ctTAac	p.H114N		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	114							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGGAACGTCTCCACCAGCTTCC	0.614000														85			7		0	0	1	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058325	152058325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:152058325C>T	uc010hvo.3	-	0	455	c.369G>A	c.(367-369)atG>atA	p.M123I	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	123						integral to membrane				lung(1)	1						TTTAATTCTTCATGAGTCCAA	0.343000														83			5		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7679270	7679270	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:7679270G>A	uc021pmv.1	-	4	679	c.573C>T	c.(571-573)atC>atT	p.I191I	ITIH5_uc001ijr.2_Silent_p.I191I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	191					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I191I(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGCTCTCCAGGATATTCACGT	0.652000														98			7		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661409	50661409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:50661409C>T	uc001csb.2	+	4	953	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	ELAVL4_uc001cry.3_Missense_Mutation_p.P232S|ELAVL4_uc001crz.3_Missense_Mutation_p.P229S|ELAVL4_uc001csa.3_Missense_Mutation_p.P246S|ELAVL4_uc001csc.3_Missense_Mutation_p.P229S|ELAVL4_uc009vyu.3_Missense_Mutation_p.P234S|ELAVL4_uc010omz.2_Missense_Mutation_p.P234S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	229					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTACCAGTCCCCCAACCGGCG	0.602000														107			15		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826139	34826139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:34826139C>T	uc003oju.4	+	13	2240	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	669										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTGCATCATGCCTTTCAGATG	0.498000														68			6		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510548	4510548	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4510548G>T	uc001lza.2	+	0	440	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	140					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)		GGTCCTGACTGGGTCCCTCAT	0.582000														49			3		0.00024832	0.000249524	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13871769	13871769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13871769C>T	uc003jfd.2	-	22	3544	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1168K(2)		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)					GACTCAAATTCAGAAAGCAAG	0.403000									Kartagener syndrome					41			3		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65252542	65252542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:65252542G>A	uc001xht.3	-	15	3740	c.3689C>T	c.(3688-3690)tCt>tTt	p.S1230F	SPTB_uc001xhr.3_Missense_Mutation_p.S1230F|SPTB_uc001xhs.3_Missense_Mutation_p.S1230F|SPTB_uc001xhu.3_Missense_Mutation_p.S1230F	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1230					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)		CTTGTTTCCAGAGTCCACAGG	0.547000														214			26		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141720809	141720809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141720809C>T	uc003vwy.3	+	4	538	c.484C>T	c.(484-486)Cca>Tca	p.P162S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	162					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)	GCCTTCTTCACCAGTGTTTGG	0.333000														41			3		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74838073	74838073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:74838073C>T	uc004air.3	+	6	853	c.644C>T	c.(643-645)tCc>tTc	p.S215F	GDA_uc011lse.2_Missense_Mutation_p.S141F|GDA_uc004aiq.3_Missense_Mutation_p.S215F|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.S141F|GDA_uc004ais.3_Intron|GDA_uc004ait.1_Missense_Mutation_p.S141F	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	215					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCACGTTTTTCCCTCTCCTGC	0.393000														102			8		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541703	55541703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55541703C>T	uc010ril.2	+	0	790	c.790C>T	c.(790-792)Cct>Tct	p.P264S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	264					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)				TTACTGTGTTCCTAATCCTAA	0.463000														37			3		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861650	52861651	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:52861650_52861651GG>AA	uc003gzi.3	-	3	1544_1545	c.1537_1538CC>TT	c.(1537-1539)cca>TTa	p.P513L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	513						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACCGGCATGTGGATGTCTCTGG	0.525000														142			8		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925560	55925560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55925560C>T	uc003pcs.3	-	26	2618	c.2386G>A	c.(2386-2388)Gtt>Att	p.V796I	COL21A1_uc010jzz.3_Missense_Mutation_p.V181I|COL21A1_uc011dxg.2_Missense_Mutation_p.V169I|COL21A1_uc011dxh.2_Missense_Mutation_p.V181I|COL21A1_uc003pcr.3_Missense_Mutation_p.V153I	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	796					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTGTGCAAACTTGTCGAATA	0.303000														50			7		0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900113	4900113	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4900113C>T	uc003snk.3	-	0	1513	c.1329G>A	c.(1327-1329)ggG>ggA	p.G443G	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	442					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GCTTTTTTAGCCCTAACCCAA	0.378000														143			11		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99669977	99669977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:99669977C>T	uc002bup.3	+	4	1529	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	SYNM_uc002buo.3_Missense_Mutation_p.S470L|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	471	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCCCGCGAGTCGTACCGGGAT	0.522000														31			5		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111267	23111267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23111267C>T	uc009vqj.1	+	2	654	c.509C>T	c.(508-510)tCc>tTc	p.S170F	EPHB2_uc001bge.3_Missense_Mutation_p.S170F|EPHB2_uc001bgf.3_Missense_Mutation_p.S170F|EPHB2_uc010odu.2_Missense_Mutation_p.S170F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	170					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGACCTGTGTCCCGCAGCGGC	0.607000														34			4		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891372	18891372	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18891372A>G	uc001rdy.3	+	0	328	c.170A>G	c.(169-171)cAa>cGa	p.Q57R	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	57					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CAACACTGCCAAAAATATTCT	0.438000														56			10		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527682	23527682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:23527682G>A	uc003jgo.3	+	10	2667	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	829					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E829*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.582000										HNSCC(3;0.000094)				122			7		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48764954	48764954	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48764954C>T	uc002isl.3	+	29	4418	c.4338C>T	c.(4336-4338)atC>atT	p.I1446I	ABCC3_uc002isn.3_Silent_p.I200I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1446	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGAGCCGCATCCTGGTTTTAG	0.627000														84			15		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22293689	22293689	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22293689G>A	uc001wbw.2	+	0	27	c.18G>A	c.(16-18)acG>acA	p.T6T	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		AGCATCTGACGACCTTCTTGG	0.333000														91			6		0	0	1	0	0
MGC16703	113691	broad.mit.edu	37	22	21363317	21363317	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21363317C>T	uc002zty.4	-	2		c.1139G>A			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		CGTAGGTGGCCAGGGGGAGGT	0.592000														84			8		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475307	140475307	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140475307C>T	uc003lil.3	+	0	1071	c.933C>T	c.(931-933)ttC>ttT	p.F311F	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	311	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTGGATTTCGAATCCATCC	0.403000														105			8		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912370	150912370	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150912370G>A	uc004fey.1	+	6	1619	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	465					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)					TGCTGGTAGAGCTGGTACTGA	0.522000														61			17		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657390	143657390	+	Silent	SNP	G	A	A	rs150878069		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143657390G>A	uc003wds.1	+	0	371	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(2)|p.G108D(1)|p.G109E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCTTGGGTGGGATTGAGTTTG	0.537000														128			12		0	0	1	0	0
ATAT1	79969	broad.mit.edu	37	6	30594998	30594998	+	Silent	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:30594998T>A	uc003nqv.3	+	0	336	c.18T>A	c.(16-18)ccT>ccA	p.P6P	ATAT1_uc003nqr.4_Intron|ATAT1_uc003nqs.4_Intron|ATAT1_uc003rdd.3_Intron|ATAT1_uc003rdc.3_Intron|ATAT1_uc011dmm.2_Silent_p.P6P	NM_001031722	NP_001026892	Q5SQI0	ATAT_HUMAN	Homo sapiens alpha tubulin acetyltransferase 1 (ATAT1), transcript variant 1, mRNA.	0							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TGACCTGGCCTTTCTGCTTCC	0.527000														62			11		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133572	104133572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:104133572C>T	uc010mtd.3	-	1	224	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	BAAT_uc004bbd.4_Missense_Mutation_p.E39K	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	39					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCTCCGTTTTCATCTTCCAGT	0.478000														58			5		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998261	10998261	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:10998261C>T	uc002yis.1	-	10		c.1992G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTCCACTCCCTTAGTTTCA	0.388000														149			8		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293418	27293418	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:27293418G>A	uc010jqt.3	+	0	879	c.357G>A	c.(355-357)gaG>gaA	p.E119E		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		CCATGTATGAGAACAGCCTAA	0.353000														64			4		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161160173	161160173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:161160173G>A	uc003qtm.4	+	15	2063	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	651	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCATGTTCAGGAAATAGAAGT	0.498000														94			6		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124224	151124224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:151124224G>A	uc004ffi.3	-	6	947	c.893C>T	c.(892-894)tCc>tTc	p.S298F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	298					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)					GATCCAAAAGGAAACCCAGGA	0.512000														68			11		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318556	30318556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:30318556C>T	uc009xle.2	-	2	658	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KIAA1462_uc001iux.3_Missense_Mutation_p.R174Q|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.R36Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	174										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCTGACATTCGCAATTCTTC	0.547000														326			25		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139726123	139726123	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139726123T>A	uc003vvl.1	-	10	2528	c.1654A>T	c.(1654-1656)Aac>Tac	p.N552Y	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	552	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCCCTCCGTTCTGCTTCTGC	0.572000														140			24		0	0	1	0	0
GPR77	27202	broad.mit.edu	37	19	47844845	47844845	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47844845C>T	uc002pgk.1	+	1	860	c.789C>T	c.(787-789)tcC>tcT	p.S263S	GPR77_uc010ela.1_Silent_p.S263S|GPR77_uc021uwn.1_Silent_p.S263S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	263					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CCCCGAACTCCGCACTCCTGG	0.657000														78			7		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799051	25799051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:25799051G>A	uc003nfh.4	-	11	1482	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.Q456*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.Q400*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	456					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCAGTCCTGAATTTCTGCT	0.428000														89			5		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174860	51174860	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51174860G>C	uc021tif.1	-	1	1304	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	SALL1_uc021tid.1_Missense_Mutation_p.Q328E|SALL1_uc021tie.1_Missense_Mutation_p.Q425E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	425					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)			CTTTTTCTTTGCTGGGCCAAG	0.498000														160			18		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405031	105405031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105405031C>T	uc003yly.4	-	7	1553	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DPYS_uc010mcf.1_Missense_Mutation_p.R45Q	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTTTATTCGTTTGTAAAT	0.473000														218			28		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608652	108608652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:108608652G>A	uc002tdv.3	+	2	545	c.269G>A	c.(268-270)gGa>gAa	p.G90E	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.G90E|SLC5A7_uc010ywn.2_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	90					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCACCAATTGGATATTCTCTT	0.418000														54			6		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955402	141955402	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141955402G>A	uc003vxb.3	-	1	452	c.132C>T	c.(130-132)gtC>gtT	p.V44V	PRSS58_uc003vxc.4_Silent_p.V44V	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGTGGATCAGGACTCCAGCGC	0.493000														75			15		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61527623	61527623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:61527623G>A	uc002ydr.2	-	7	2488	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	DIDO1_uc002yds.2_Missense_Mutation_p.R726C|DIDO1_uc002ydt.2_Missense_Mutation_p.R726C|DIDO1_uc002ydu.2_Missense_Mutation_p.R726C	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	726	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATGATGCTGCGATATTTACTC	0.418000														129			19		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029310	37029310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:37029310C>T	uc004ddl.2	+	0	2879	c.2827C>T	c.(2827-2829)Ctc>Ttc	p.L943F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	943										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCATGGTACCTCAAGCCTAA	0.448000														75			22		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52928755	52928755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:52928755C>T	uc002lga.3	-	12	1298	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	TCF4_uc021ukg.1_Missense_Mutation_p.G151E|TCF4_uc021ukh.1_Missense_Mutation_p.G151E|TCF4_uc002lfw.4_Missense_Mutation_p.G151E|TCF4_uc010xdu.1_Missense_Mutation_p.G181E|TCF4_uc010xdv.1_Missense_Mutation_p.G181E|TCF4_uc021uki.1_Missense_Mutation_p.G240E|TCF4_uc002lfx.2_Missense_Mutation_p.G240E|TCF4_uc010xdw.1_Missense_Mutation_p.G181E|TCF4_uc002lfy.2_Missense_Mutation_p.G269E|TCF4_uc010xdx.1_Missense_Mutation_p.G287E|TCF4_uc021ukj.1_Missense_Mutation_p.G251E|TCF4_uc021ukk.1_Missense_Mutation_p.G251E|TCF4_uc021ukl.1_Missense_Mutation_p.G309E|TCF4_uc002lfz.2_Missense_Mutation_p.G311E|TCF4_uc010dph.1_Missense_Mutation_p.G311E|TCF4_uc010dpi.3_Missense_Mutation_p.G317E|TCF4_uc010xdy.1_Missense_Mutation_p.G287E	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	311					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGCCCCGCTTCCTCTATTTGC	0.443000														208			21		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94913385	94913385	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:94913385G>T	uc002btj.3	+	10	1623	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	MCTP2_uc002bti.2_Missense_Mutation_p.D520Y|MCTP2_uc010boj.3_Missense_Mutation_p.D249Y|MCTP2_uc010bok.3_Missense_Mutation_p.D520Y|MCTP2_uc002btk.4_Missense_Mutation_p.D108Y|MCTP2_uc002btl.3_Missense_Mutation_p.D108Y	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	520	C2 3.				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)			AAAGGCAGCAGATCTCTTAGC	0.383000														31			3		0.014758	0.0148069	1	1	0
CCDC71	64925	broad.mit.edu	37	3	49201459	49201459	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49201459T>G	uc003cwg.4	-	1	321	c.183A>C	c.(181-183)caA>caC	p.Q61H	CCDC71_uc021wxs.1_Missense_Mutation_p.Q61H	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	61										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGATGGTAGGTTGGAAGCCAT	0.552000														82			8		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24524794	24524794	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:24524794G>A	uc001wlj.2	+	8	805	c.648G>A	c.(646-648)tgG>tgA	p.W216*		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	216										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)		ACAACCAGTGGTTCACCAAAC	0.577000														209			27		0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197757952	197757952	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:197757952C>T	uc002utw.3	-	7	1059	c.945G>A	c.(943-945)aaG>aaA	p.K315K	PGAP1_uc002utx.3_Silent_p.K141K|PGAP1_uc002uty.1_Silent_p.K315K|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_Silent_p.K141K	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	315					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	p.K315R(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACAGTTTCTTCTTGGAATTTT	0.313000														39			3		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483364	102483364	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:102483364T>C	uc003pqp.4	+	13	2527	c.2234T>C	c.(2233-2235)gTt>gCt	p.V745A	GRIK2_uc010kcw.3_Missense_Mutation_p.V745A|GRIK2_uc003pqo.4_Missense_Mutation_p.V745A|GRIK2_uc021zdk.1_Missense_Mutation_p.V558A|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	745					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATCGAGTTTGTTACCCAGCGG	0.468000														203			17		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927791	6927791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6927791C>T	uc010clt.1	+	3	535	c.473C>T	c.(472-474)cCa>cTa	p.P158L	BCL6B_uc002geg.2_Missense_Mutation_p.P158L	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	158	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						GCCCCTCCACCAGGTAGTCCC	0.637000														155			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267137	72267137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:72267137C>T	uc003xyu.3	-	2	644	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.E2K|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.E2K|EYA1_uc011lfe.2_Missense_Mutation_p.E2K|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	2					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCCTGCATTTCCATAGACCTA	0.428000														159			11		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145155	55145155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55145155G>A	uc003pcl.3	+	5	1333	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	340					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAAGACAGAGAGACTGTGTA	0.363000														94			5		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101574973	101574973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:101574973G>A	uc003knm.3	-	11	2283	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	666					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACTAGCATATGGGCCATCTTG	0.323000														28			3		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4119157	4119157	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4119157C>T	uc003smx.3	+	21	3404	c.3265C>T	c.(3265-3267)Cag>Tag	p.Q1089*	SDK1_uc010kso.3_Nonsense_Mutation_p.Q365*	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1089	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCCACCCTTCAGTTCCGGCC	0.562000														171			19		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165801887	165801887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:165801887C>T	uc003qun.3	-	17	1927	c.1682G>A	c.(1681-1683)aGt>aAt	p.S561N	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.S491N|PDE10A_uc003quo.3_Missense_Mutation_p.S571N	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	561					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTAGCTGTTACTGAAGCCCCT	0.507000														117			9		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269404	150269404	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150269404C>T	uc003whl.3	+	2	328	c.246C>T	c.(244-246)gtC>gtT	p.V82V	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.V96V	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	82							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAACTTGTCGTAGTTGACA	0.498000														37			6		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169201578	169201578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:169201578G>A	uc003irp.3	-	13	2178	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	629							ATP binding|ATP-dependent helicase activity|RNA binding	p.S629F(3)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACTTTTACAGGATTTCAAAAA	0.373000														47			6		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42299962	42299962	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:42299962C>A	uc021sjp.1	-	2	358	c.358G>T	c.(358-360)Gaa>Taa	p.E120*		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	102	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTGAAGCTTTCATTCCACTCT	0.537000														25			4		0.184627	0.184909	1	1	0
DCAF5	8816	broad.mit.edu	37	14	69520803	69520804	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:69520803_69520804GT>AC	uc001xkp.3	-	8	2818_2819	c.2599_2600AC>GT	c.(2599-2601)act>GTt	p.T867V	DCAF5_uc001xkq.3_Missense_Mutation_p.T866V	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	867						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATCACGGTCAGTGTCTGAGTGT	0.564000														63			9		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166896092	166896092	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166896092G>A	uc002udo.4	-	15	2657	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	SCN1A_uc010fpk.3_Silent_p.I782I|SCN1A_uc021vsb.1_Silent_p.I799I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	810						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A810A(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGCTGTAAAGATCCCAGTGA	0.333000														30			6		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83330664	83330664	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:83330664G>A	uc010uoi.2	-	24	3106	c.2929C>T	c.(2929-2931)Cga>Tga	p.R977*	AP3B2_uc010uoh.2_Nonsense_Mutation_p.R958*|AP3B2_uc010uoj.2_Nonsense_Mutation_p.R926*|AP3B2_uc010bmp.3_Nonsense_Mutation_p.R21*|AP3B2_uc010uog.2_Nonsense_Mutation_p.R594*	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	958					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAGAACTGTCGGGTCTGGGTG	0.552000														44			3		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497063	149497063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:149497063C>T	uc010lpk.3	+	47	7094	c.7094C>T	c.(7093-7095)cCa>cTa	p.P2365L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2368					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGTGCCCCCACACCCTGTG	0.617000														92			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106405705	106405705	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106405705C>T	uc021ser.1	-	3033		c.50087G>A								Parts of antibodies, mostly variable regions.																		GATGGTTATTCGACTTTTCAC	0.493000														191			39		0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914427	111914427	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:111914427C>T	uc004epp.3	-	0	334	c.261G>A	c.(259-261)gtG>gtA	p.V87V	LHFPL1_uc004epq.3_Silent_p.V64V|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Silent_p.V64V	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	64						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CACATTCTTCCACCATGATCA	0.587000														74			7		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813083	25813083	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:25813083G>A	uc003nfh.4	-	7	989	c.873C>T	c.(871-873)tcC>tcT	p.S291S	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.S291S|SLC17A1_uc010jqc.1_Intron	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	291					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CATGAAGCATGGAGTTGATAA	0.358000														30			4		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49339953	49339953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49339953G>A	uc003cwq.2	-	9	1230	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L	USP4_uc003cwp.2_Missense_Mutation_p.P114L|USP4_uc003cwr.2_Missense_Mutation_p.P337L	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	384					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGAAAATTGAGGAGCAAAACG	0.393000														39			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061169	9061169	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9061169G>A	uc002mkp.3	-	2	26481	c.26277C>T	c.(26275-26277)tcC>tcT	p.S8759S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8761	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q8758E(1)		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						GTGATATTGTGGATTGAGCAG	0.502000														65			5		0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1549852	1549852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1549852G>A	uc002ftd.3	-	7	1384	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	364					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCTTGCTGGGTGCAGGGCTG	0.597000														253			27		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019765	56019765	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56019765G>A	uc010rjd.2	+	0	90	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATATACAGGAATCCACTGA	0.358000														68			7		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15590553	15590553	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:15590553G>A	uc001ioc.1	-	26	2781	c.2781C>T	c.(2779-2781)atC>atT	p.I927I	ITGA8_uc010qcb.1_Silent_p.I912I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	927					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTAAACACTCGATATTTGTAC	0.453000														43			5		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662503	113662503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113662503G>A	uc003ynu.3	-	18	3239	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CSMD3_uc003yns.3_Missense_Mutation_p.S299F|CSMD3_uc003ynt.3_Missense_Mutation_p.S987F|CSMD3_uc011lhx.2_Missense_Mutation_p.S923F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1027	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGCCAATGGAGAAATCATG	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				160			15		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105798220	105798220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:105798220C>T	uc001kxr.3	-	44	3183	c.3014G>A	c.(3013-3015)gGc>gAc	p.G1005D		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1005	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P1004L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTGATAGAGCCCGGAGGCCC	0.607000														184			29		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26029103	26029103	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:26029103A>C	uc002rgs.2	-	2	468	c.247T>G	c.(247-249)Ttg>Gtg	p.L83V		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTACCTTCAAAGTATATACT	0.393000														18			3		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608904	4608904	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4608904T>A	uc010qyh.2	+	0	884	c.862T>A	c.(862-864)Tcc>Acc	p.S288T		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGATGGCATCCATCTATGC	0.512000														117			7		0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12198407	12198407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:12198407C>T	uc003bwo.3	-	2	776	c.265G>A	c.(265-267)Gat>Aat	p.D89N	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	89	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TACTGAACATCCTTGACTTTC	0.388000														73			4		0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72178143	72178143	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:72178143C>T	uc002llm.2	+	5	811	c.552C>T	c.(550-552)ttC>ttT	p.F184F	CNDP2_uc002lln.2_Silent_p.F100F	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	184						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AAGACACATTCTTTAAGGATG	0.502000														124			10		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002394	170002394	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:170002394A>G	uc002ues.3	-	69	13064	c.12851T>C	c.(12850-12852)tTa>tCa	p.L4284S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4284					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)	TATCCAGTATAACTGGTCTTC	0.403000														38			6		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837505	81837505	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:81837505C>T	uc010tvu.2	-	2	596	c.398G>A	c.(397-399)tGg>tAg	p.W133*	STON2_uc001xvk.1_Nonsense_Mutation_p.W133*	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	133					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGGCATGTCCAGCAGGGCAT	0.468000														85			12		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189918898	189918899	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:189918898_189918899GG>AA	uc002uqk.3	-	35	2706_2707	c.2431_2432CC>TT	c.(2431-2433)cct>TTt	p.P811F	COL5A2_uc010frx.3_Missense_Mutation_p.P387F	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	811				PT -> LL (in Ref. 1; CAA75002 and 9; CAA28454).	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)			TTCTCCAGTAGGACCTGCCGGA	0.386000														74			8		0	0	1	0	0
ISG20	3669	broad.mit.edu	37	15	89198721	89198721	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:89198721C>T	uc002bmv.1	+	3	798	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ISG20_uc002bmu.1_Non-coding_Transcript|ISG20_uc010upn.1_Non-coding_Transcript	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa (ISG20), mRNA.	169					DNA catabolic process, exonucleolytic|RNA catabolic process|cell proliferation|response to virus|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|RNA binding|exoribonuclease II activity|metal ion binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CCAGAGAATCCGAGCCCGCCG	0.592000														88			5		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339312	124339312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:124339312G>A	uc001lgk.1	+	9	1004	c.898G>A	c.(898-900)Gat>Aat	p.D300N	DMBT1_uc001lgl.1_Missense_Mutation_p.D300N|DMBT1_uc001lgm.1_Missense_Mutation_p.D300N|DMBT1_uc021qaf.1_Missense_Mutation_p.D300N|DMBT1_uc021qag.1_Missense_Mutation_p.D300N|DMBT1_uc021qah.1_Missense_Mutation_p.D300N|DMBT1_uc009xzz.1_Missense_Mutation_p.D300N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.D152N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	300	SRCR 2.				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)				TGTCCTGGATGATGTGCGCTG	0.597000														152			20		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11293491	11293491	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:11293491G>A	uc001asd.3	-	14	2506	c.2385C>T	c.(2383-2385)atC>atT	p.I795I		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	795					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGACATTATTGATCACACCTG	0.403000														93			6		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26620706	26620706	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:26620706G>A	uc001blw.3	-	8	822	c.549C>T	c.(547-549)ttC>ttT	p.F183F	UBXN11_uc001bly.3_Intron|UBXN11_uc001blz.1_Silent_p.F150F|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Silent_p.F150F|UBXN11_uc010ofb.1_Silent_p.F108F|UBXN11_uc010ofc.1_Silent_p.F25F	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	183						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTGGCTTCCAGAACTTCTTGG	0.587000														157			13		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182897	165182897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:165182897G>A	uc001gcz.2	-	4	844	c.650C>T	c.(649-651)tCc>tTc	p.S217F	LMX1A_uc021pdz.1_Missense_Mutation_p.S217F|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGGCTTGGAGGATACTTCAAA	0.562000														116			5		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328297	80328297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:80328297C>T	uc003hlu.3	-	0	1076	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	353					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ATAAGAAGTTCCTACTTCTTT	0.443000														94			6		0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99700339	99700339	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99700339C>T	uc003utb.4	+	2	397	c.189C>T	c.(187-189)ggC>ggT	p.G63G	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Silent_p.G63G|AP4M1_uc010lgl.1_Silent_p.G63G|AP4M1_uc003utd.3_Silent_p.G63G|AP4M1_uc011kjh.2_Silent_p.G15G|AP4M1_uc003ute.4_5'UTR|AP4M1_uc003utf.4_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	63					intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACACAGCGGCCTCTATTTGG	0.527000														113			6		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78056613	78056613	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:78056613G>A	uc002ffh.4	+	0	171	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	30					skeletal system development	extracellular region	sugar binding	p.R30M(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TAAAAGCCAGGAAGCACAGCA	0.483000														60			5		0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155162036	155162036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155162036C>T	uc021pap.1	-	1	196	c.124G>A	c.(124-126)Gga>Aga	p.G42R	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_5'UTR|MUC1_uc010pfh.2_Silent_p.V81V|MUC1_uc010pff.2_Silent_p.V81V|MUC1_uc010pfi.2_Silent_p.V81V|MUC1_uc010pfj.2_Silent_p.V81V|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_5'UTR|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_5'UTR|MUC1_uc010pfg.2_Non-coding_Transcript|MUC1_uc010pfd.2_Silent_p.V7V|MUC1_uc009wpy.3_Non-coding_Transcript|MUC1_uc009wpu.3_Non-coding_Transcript|MUC1_uc010pfm.2_5'UTR|MUC1_uc001fiq.3_5'UTR|MUC1_uc009wqa.3_Silent_p.V7V|MUC1_uc010pfn.2_Missense_Mutation_p.G33R|MUC1_uc009wpn.3_Missense_Mutation_p.G42R|MUC1_uc010pfo.2_Silent_p.V7V|MUC1_uc009wpw.3_Missense_Mutation_p.G42R|MUC1_uc001fim.3_Missense_Mutation_p.G33R|MUC1_uc001fil.3_Missense_Mutation_p.G33R|MUC1_uc010pfp.2_Silent_p.V7V|MUC1_uc001fij.3_Missense_Mutation_p.G42R|MUC1_uc009wqc.3_Silent_p.V7V|MUC1_uc009wqd.3_Silent_p.V7V|MUC1_uc001fia.3_Missense_Mutation_p.G33R|MUC1_uc009wqb.3_5'UTR|MUC1_uc009wpx.3_Missense_Mutation_p.G42R|MUC1_uc010pfq.2_Silent_p.V7V|MUC1_uc001fid.3_Missense_Mutation_p.G33R|MUC1_uc001fit.3_5'UTR|MUC1_uc009wpz.3_Missense_Mutation_p.G42R|MUC1_uc001fii.3_Non-coding_Transcript|MUC1_uc001fik.3_Missense_Mutation_p.G33R|MUC1_uc009wpo.3_Missense_Mutation_p.G21R|MUC1_uc010pfr.2_Missense_Mutation_p.G42R|MUC1_uc001fih.3_Non-coding_Transcript|MUC1_uc001fio.3_Missense_Mutation_p.G33R|MUC1_uc009wqe.3_Missense_Mutation_p.G42R|MUC1_uc009wpl.3_Missense_Mutation_p.G42R|MUC1_uc009wpp.3_Missense_Mutation_p.G33R|MUC1_uc009wpm.3_Missense_Mutation_p.G33R|MUC1_uc009wpk.3_5'UTR|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Silent_p.V7V|MUC1_uc021paq.1_Missense_Mutation_p.G33R|MUC1_uc009wqg.3_Silent_p.V7V|MUC1_uc009wqf.3_Silent_p.V7V|MUC1_uc001fic.3_Missense_Mutation_p.G33R|MUC1_uc009wps.3_Missense_Mutation_p.G42R|MUC1_uc001fie.3_Missense_Mutation_p.G33R|MUC1_uc009wpt.3_Missense_Mutation_p.G42R|MUC1_uc009wpq.3_Missense_Mutation_p.G21R|MUC1_uc009wpr.3_Missense_Mutation_p.G21R|MUC1_uc001fig.3_Missense_Mutation_p.G42R|MUC1_uc001fif.3_Missense_Mutation_p.G33R|MUC1_uc001fin.3_Missense_Mutation_p.G42R|MUC1_uc009wpj.3_Non-coding_Transcript|MUC1_uc009wpv.3_Silent_p.V7V|MUC1_uc001fib.3_Silent_p.V7V|MUC1_uc001fis.2_Missense_Mutation_p.G33R|MUC1_uc001fiv.2_Missense_Mutation_p.G42R|MUC1_uc001fiw.2_Missense_Mutation_p.G33R|MIR92B_uc021pas.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	810						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCTTTTCTCCACCTGGGGTA	0.517000			T	IGH@	B-NHL									123			14		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7571947	7571947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:7571947G>A	uc002mgm.2	+	7	1354	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	405										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCCAGAATTCGATTTTTTAAC	0.577000														35			4		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528303	7528303	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7528303G>A	uc010sge.2	-	9	2735	c.2709C>T	c.(2707-2709)gtC>gtT	p.V903V	CD163L1_uc001qsy.3_Silent_p.V893V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	893	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACGGGAACAGACAACTCCAA	0.453000														108			9		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68995601	68995601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:68995601C>T	uc003xxv.1	+	17	2032	c.2005C>T	c.(2005-2007)Ctt>Ttt	p.L669F	PREX2_uc003xxu.1_Missense_Mutation_p.L669F|PREX2_uc011lez.1_Missense_Mutation_p.L604F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	669	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTAAGAGTTCTTGTGAGCAC	0.318000														50			6		0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140264	78140264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:78140264G>A	uc001xuc.1	-	5	1070	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	354					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F353F(1)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGGTTCTAGAGGGAAATTCTG	0.498000														73			7		0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103870452	103870452	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:103870452A>T	uc003hww.3	-	3	486	c.344T>A	c.(343-345)aTt>aAt	p.I115N	SLC9B1_uc003hwu.3_Missense_Mutation_p.I115N|SLC9B1_uc010ilm.3_5'UTR|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115						integral to membrane	solute:hydrogen antiporter activity										AGGTATTCTAATGAGTTGTAA	0.338000														48			6		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454500	84454500	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:84454500G>A	uc001vlk.3	-	0	2029	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	381						integral to membrane		p.L380I(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TATCTCGTAGGAAAAGCTCCT	0.468000														112			13		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14336794	14336794	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:14336794C>T	uc003jff.3	+	10	2010	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.I619I|TRIO_uc003jfh.1_Silent_p.I317I	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	668					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)					AGCGAAAGATCCTACTGGACA	0.483000														60			8		0	0	1	0	0
RDH5	5959	broad.mit.edu	37	12	56115531	56115531	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:56115531G>A	uc001shk.3	+	2	552	c.369G>A	c.(367-369)tgG>tgA	p.W123*	BLOC1S1_uc001shj.4_3'UTR|RDH5_uc021qyt.1_5'UTR|RDH5_uc010spt.1_Nonsense_Mutation_p.W123*|RDH5_uc010spu.1_Nonsense_Mutation_p.W26*|RDH5_uc001shl.3_Nonsense_Mutation_p.W123*	NM_002905	NP_002896	Q92781	RDH1_HUMAN	Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA.	123					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CCACACCATGGCTGACCCGGG	0.597000														80			6		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471313	31471313	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:31471313C>T	uc010vfn.2	+	2	877	c.753C>T	c.(751-753)ctC>ctT	p.L251L	ARMC5_uc010vfo.2_Silent_p.L188L|ARMC5_uc002ecc.3_Silent_p.L156L|ARMC5_uc002eca.4_Silent_p.L156L|ARMC5_uc002ecb.2_Silent_p.L156L|ARMC5_uc010vfp.2_Silent_p.L156L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	156							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGGCATACTCCCTTTGGGTA	0.587000														116			9		0	0	1	0	0
C2orf50	130813	broad.mit.edu	37	2	11280648	11280648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:11280648G>A	uc010yji.1	+	1	552	c.270G>A	c.(268-270)tgG>tgA	p.W90*	C2orf50_uc010yjj.1_Nonsense_Mutation_p.W90*	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA.	90										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		TTCAGAACTGGAGTTTCCTGA	0.378000														118			5		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81888083	81888083	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81888083G>A	uc002fgt.3	+	2	406	c.228G>A	c.(226-228)ggG>ggA	p.G76G	PLCG2_uc010chg.1_Silent_p.G76G	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	76	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCGCCCAGGGAAGAACTCCA	0.468000														99			8		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953378	56953379	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56953378_56953379GG>AA	uc002qne.3	-	6	1776_1777	c.985_986CC>TT	c.(985-987)cct>TTt	p.P329F	ZNF667_uc010etl.3_Missense_Mutation_p.P111F|ZNF667_uc002qnd.3_Missense_Mutation_p.P329F|ZNF667_uc010etm.3_Missense_Mutation_p.P272F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P329T(2)|p.P329H(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCATTTAAAAGGATTCTCTAAA	0.366000														96			4		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769093	57769093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57769093G>A	uc002yan.3	+	0	3019	c.3019G>A	c.(3019-3021)Gac>Aac	p.D1007N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1007						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)					CATCCTGGAGGACCCCAGCTG	0.637000														61			5		0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180011162	180011162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:180011162G>A	uc002uni.4	-	7	754	c.604C>T	c.(604-606)Cca>Tca	p.P202S		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	202					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAACCGATGGAAGAAAGTTT	0.289000														77			4		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842052	227842052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:227842052C>T	uc021pjy.1	+	3	442	c.266C>T	c.(265-267)tCc>tTc	p.S89F	ZNF678_uc001hqw.2_Missense_Mutation_p.S34F|ZNF678_uc009xet.2_Non-coding_Transcript|ZNF678_uc009xeu.2_Non-coding_Transcript	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	89					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTATCTTATTCCATTCAAGAC	0.299000														55			5		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160124859	160124859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160124859G>A	uc001fve.4	+	2	711	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	78					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E78K(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGGGCAAAGGAAATCCTGAC	0.507000														169			16		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64494806	64494806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:64494806C>T	uc009ypu.3	-	15	2025	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M	RASGRP2_uc001oat.3_Missense_Mutation_p.V503M|RASGRP2_uc001oau.3_Missense_Mutation_p.V456M|RASGRP2_uc009ypv.3_Missense_Mutation_p.V600M|RASGRP2_uc009ypw.3_Missense_Mutation_p.V600M	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	600					Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCATCCTCCACCGTCTGTACC	0.602000														107			11		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628027	187628027	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187628027G>A	uc003izf.3	-	1	3143	c.2955C>T	c.(2953-2955)atC>atT	p.I985I	FAT1_uc010iso.1_Silent_p.I985I	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	985	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCTGGACGATCCTAACTG	0.468000										HNSCC(5;0.00058)				91			11		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402102	45402102	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:45402102A>G	uc001zun.3	-	9	1320	c.1117T>C	c.(1117-1119)Tac>Cac	p.Y373H	DUOX2_uc010bea.3_Missense_Mutation_p.Y373H	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	373	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGAATCCAGTAGTTGTTGCAG	0.502000														103			11		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38671833	38671833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38671833G>A	uc021wvo.1	-	1	413	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	SCN5A_uc021wvk.1_Missense_Mutation_p.R121W|SCN5A_uc021wvl.1_Missense_Mutation_p.R121W|SCN5A_uc021wvm.1_Missense_Mutation_p.R121W|SCN5A_uc021wvn.1_Missense_Mutation_p.R121W|SCN5A_uc021wvp.1_Missense_Mutation_p.R121W|SCN5A_uc021wvq.1_Missense_Mutation_p.R121W|SCN5A_uc021wvr.1_Missense_Mutation_p.R121W|SCN5A_uc021wvs.1_Missense_Mutation_p.R121W|SCN5A_uc021wvt.1_Missense_Mutation_p.R121W|SCN5A_uc021wvu.1_Missense_Mutation_p.R121W|SCN5A_uc021wvv.1_Missense_Mutation_p.R121W	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	121					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)	GCCGCTCTCCGGATGGGGTGG	0.552000														156			9		0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126382316	126382316	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:126382316G>A	uc003eje.1	+	1	283	c.39G>A	c.(37-39)gtG>gtA	p.V13V						Homo sapiens nucleoporin 210kDa pseudogene 1 (NUP210P1), non-coding RNA.																		TGCAGGTGGTGGATGCAGAGA	0.557000														117			13		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833536	61833536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61833536C>T	uc001jky.3	-	36	7441	c.7103G>A	c.(7102-7104)gGa>gAa	p.G2368E	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.	2368					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						GTTAATATCTCCCCGGGATAA	0.388000														80			4		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54798243	54798243	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:54798243G>A	uc001sga.3	-	13	1502	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	478					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.G477G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCACACCAAAGGACCCCACAA	0.493000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		445			56		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004434	44004434	+	Missense_Mutation	SNP	C	T	T	rs147806364		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:44004434C>T	uc003bdy.2	-	21	2923	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	EFCAB6_uc003bdz.2_Missense_Mutation_p.R718Q|EFCAB6_uc010gzi.2_Missense_Mutation_p.R718Q|EFCAB6_uc010gzj.1_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	870	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTTATGTCCCGGCGTCGAAG	0.438000														62			17		0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24140701	24140701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:24140701G>A	uc001bib.3	-	4	520	c.476C>T	c.(475-477)tCa>tTa	p.S159L	HMGCL_uc010oec.2_Intron|HMGCL_uc001bic.3_Missense_Mutation_p.S134L|HMGCL_uc009vqs.1_Intron|HMGCL_uc021oii.1_Intron	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	159					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AATATTGGCTGACTGCGCTGC	0.498000														143			17		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155263259	155263259	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155263259G>A	uc001fkb.4	-	7	1278	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	PKLR_uc001fka.4_Silent_p.F382F	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	413					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.F413F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTTCCACAGGGAAGTTGCCCT	0.587000														60			6		0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75157026	75157026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:75157026G>A	uc001jtz.2	-	3	339	c.266C>T	c.(265-267)cCa>cTa	p.P89L	ANXA7_uc001jua.2_Missense_Mutation_p.P89L|ANXA7_uc010qki.1_Intron|ANXA7_uc009xre.3_Intron|ANXA7_uc009xrf.1_Intron	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	89	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TCCTTGGCCTGGAGGAACTAG	0.418000														21			3		0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190167526	190167526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:190167526G>A	uc003fsj.2	-	0	140	c.73C>T	c.(73-75)Cag>Tag	p.Q25*		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	25						integral to membrane		p.Q25*(2)		endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		ATAGTTACCTGGAATAGCGGC	0.408000														43			5		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662886	144662886	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:144662886G>A	uc003yyq.2	-	5	1879	c.1650C>T	c.(1648-1650)ccC>ccT	p.P550P	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Silent_p.P476P|EEF1D_uc011lki.2_Silent_p.P134P|EEF1D_uc003yyv.3_Silent_p.P110P|EEF1D_uc003yyu.3_Silent_p.P134P|EEF1D_uc011lkk.2_Silent_p.P134P|EEF1D_uc003yyt.3_Silent_p.P500P|EEF1D_uc003yyr.3_Silent_p.P500P|EEF1D_uc003yys.3_Silent_p.P134P|EEF1D_uc011lkl.2_Silent_p.P115P	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	134					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTTGGCGCATGGGAGATACGT	0.637000														145			13		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107361157C>T	uc011lvp.2	-	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000														123			27		0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81399011	81399011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81399011G>A	uc002fgo.3	+	8	1578	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	477					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GGGGGAGTCCGAAGTCGTGAG	0.498000														203			21		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066595	9066595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:9066595C>T	uc003jek.2	-	16	2949	c.2237G>A	c.(2236-2238)gGa>gAa	p.G746E		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	746	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCTCTGTCTTCCCACTTCCAG	0.542000														192			12		0	0	1	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288215	36288215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:36288215G>A	uc010wdk.1	+	4	485	c.484G>A	c.(484-486)Gga>Aga	p.G162R	TBC1D3_uc002hoo.2_Missense_Mutation_p.G101R|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.G21R|TBC1D3_uc010cvf.1_Missense_Mutation_p.G101R|TBC1D3_uc002hoq.2_Missense_Mutation_p.G101R|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.	101	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)		AGCGTACAAGGGAATGCCCAT	0.557000														406			33		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59416968	59416968	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59416968T>A	uc001noe.4	-	13	1843	c.1700A>T	c.(1699-1701)gAc>gTc	p.D567V	PATL1_uc009yms.1_Missense_Mutation_p.D537V|PATL1_uc010rkw.2_Missense_Mutation_p.D272V	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	567	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CCTTAAGTTGTCATACATGCT	0.428000														44			3		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020585	32020585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32020585G>A	uc003nzl.2	-	25	9173	c.8971C>T	c.(8971-8973)Ccc>Tcc	p.P2991S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3038					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCACCTGGGGCCGCCCGTCC	0.662000														59			9		0	0	1	0	0
PPIF	10105	broad.mit.edu	37	10	81109470	81109470	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:81109470C>T	uc001kai.3	+	2	361	c.276C>T	c.(274-276)ggC>ggT	p.G92G	PPIF_uc001kaj.3_Silent_p.G92G	NM_005729	NP_005720	P30405	PPIF_HUMAN	Homo sapiens peptidylprolyl isomerase F (PPIF), nuclear gene encoding mitochondrial protein, mRNA.	92	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	GCTACAAAGGCTCCACCTTCC	0.557000														60			4		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350423	30350423	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:30350423G>A	uc002kxm.1	-	1	520	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	44	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTGGCAATGGAACTGCTGGC	0.672000														87			5		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593304	47593304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:47593304G>A	uc003gxk.1	+	22	4351	c.4187G>A	c.(4186-4188)gGa>gAa	p.G1396E	ATP10D_uc003gxl.1_Missense_Mutation_p.G644E	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1396					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATTGAGCAAGGAAACTTATCT	0.458000														86			6		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32257851	32257851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:32257851G>A	uc001bts.1	-	14	2985	c.2927C>T	c.(2926-2928)cCc>cTc	p.P976L	SPOCD1_uc001btr.1_Missense_Mutation_p.P64L|SPOCD1_uc001btu.3_Missense_Mutation_p.P976L|SPOCD1_uc001btv.3_Missense_Mutation_p.P469L	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	976					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)		GGTGGGCAGGGGCTGGAAGGC	0.652000														21			7		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848715	92848715	+	Silent	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92848715G>C	uc011khy.2	-	2	221	c.198C>G	c.(196-198)ggC>ggG	p.G66G	HEPACAM2_uc003uml.3_Silent_p.G31G|HEPACAM2_uc010lff.3_Silent_p.G31G|HEPACAM2_uc003umm.3_Silent_p.G43G	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	43						integral to membrane		p.G31G(1)|p.G43G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GACCTCTGACGCCATGGACAG	0.517000														89			6		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94471002	94471002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:94471002C>T	uc001dqh.3	-	43	6246	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	ABCA4_uc001dqi.1_Missense_Mutation_p.E167K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2048	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I2047I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCACCTTTTCGATTTCTTCT	0.448000														146			11		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478579	1478579	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:1478579G>A	uc003skj.4	-	9	2166	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	MICALL2_uc003ski.4_Silent_p.L160L	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	673						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CACAAACGTCGAGGCTGGCAG	0.672000														35			12		0	0	1	0	0
C7orf53	286006	broad.mit.edu	37	7	112129885	112129885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:112129885G>A	uc011kmq.2	+	3	412	c.277G>A	c.(277-279)Gat>Aat	p.D93N	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Missense_Mutation_p.D93N	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	93						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						AAACAAGATGGATGATGTGTC	0.388000														68			5		0	0	1	0	0
AGPHD1	123688	broad.mit.edu	37	15	78819766	78819766	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:78819766C>T	uc010unc.2	+	3	635	c.522C>T	c.(520-522)ttC>ttT	p.F174F	AGPHD1_uc002bdt.3_Silent_p.F174F|AGPHD1_uc010ble.3_Silent_p.F174F	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	174						cytoplasm	kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						GGGAGAACTTCATCTGGAATC	0.423000														107			9		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258356	18258356	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:18258356C>T	uc022asl.1	+	0	843	c.843C>T	c.(841-843)ccC>ccT	p.P281P	NAT2_uc003wyw.1_Silent_p.P281P	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	281					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ATCTCGTGCCCAAACCTGGTG	0.378000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					59			5		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776630	137776630	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:137776630G>A	uc003vtz.3	+	3	465	c.378_splice	c.e3+1	p.K126_splice	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Splice_Site_p.K126_splice|AKR1D1_uc011kqc.1_Splice_Site|AKR1D1_uc011kqf.2_Splice_Site_p.K126_splice|AKR1D1_uc011kqe.1_Splice_Site_p.K126_splice|AKR1D1_uc010lmy.1_Splice_Site	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	126					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGGCCTTTAAGGTGAGTTCAG	0.512000														104			9		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940786	144940786	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:144940786C>T	uc003zaa.1	-	0	6649	c.6636G>A	c.(6634-6636)gaG>gaA	p.E2212E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2212						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGTCGTCCTCCATGAGCT	0.622000														114			10		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23657640	23657640	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:23657640C>T	uc002zww.3	+	22	4343	c.3747C>T	c.(3745-3747)ttC>ttT	p.F1249F	BCR_uc002zwx.3_Silent_p.F1205F|BCR_uc011aiy.2_Silent_p.F838F	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1249					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGCTGTACTTCCTGCAGCTGG	0.622000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									91			10		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989728	124989728	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124989728C>T	uc003yqw.3	+	9	1148	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	314	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAAATGTTCCCTCCCTTGT	0.502000														117			11		0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40800157	40800157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:40800157G>A	uc002yxu.3	-	3	576	c.263C>T	c.(262-264)cCt>cTt	p.P88L	LCA5L_uc002yxv.3_Missense_Mutation_p.P88L|LCA5L_uc021wji.1_Intron|LCA5L_uc002yxw.2_Missense_Mutation_p.P88L|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	88										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTTACCACAGGCTGCTTTAA	0.333000														65			7		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215972435	215972435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:215972435G>A	uc001hku.1	-	49	10159	c.9772C>T	c.(9772-9774)Cgg>Tgg	p.R3258W		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3258					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R3258R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAACCCGATTGTGCTGT	0.423000										HNSCC(13;0.011)				18			3		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572419	56572419	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:56572419G>A	uc002iwj.2	-	15	3194	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	1028						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCCTGCTTCGATTTGCCGTA	0.557000														143			13		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89537428	89537428	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:89537428C>T	uc001pdb.3	-	2	539	c.210G>A	c.(208-210)ttG>ttA	p.L70L		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	70						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCATCTTCTTCAAATGAATGT	0.443000														41			5		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11520840	11520840	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:11520840C>T	uc002gne.3	+	4	1085	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	339	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCCCTGCTCCACGTGGTCT	0.597000														88			12		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393509	145393509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:145393509C>T	uc003lnt.3	+	4	1182	c.944C>T	c.(943-945)cCt>cTt	p.P315L	SH3RF2_uc011dbl.1_Missense_Mutation_p.P315L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	315							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCATTCTCCTTCAGGGCGC	0.577000														118			10		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736296	4736296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4736296C>T	uc001qnb.4	-	3	2016	c.1772G>A	c.(1771-1773)aGg>aAg	p.R591K		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	591					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.R591M(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAAAACACTCCTTAGGTCCTT	0.463000														112			10		0	0	1	0	0
GCET2	257144	broad.mit.edu	37	3	111845880	111845880	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:111845880C>T	uc021xcl.1	-	4	335	c.150_splice	c.e4-1	p.W50_splice	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Splice_Site_p.W48_splice|GCET2_uc021xcm.1_Splice_Site_p.R33_splice	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	48						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GTATTTTTTTCCTGTAAAAGA	0.284000														26			3		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70877936	70877936	+	Missense_Mutation	SNP	G	A	A	rs149953250		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70877936G>A	uc003pfc.1	+	37	2582	c.2465G>A	c.(2464-2466)cGa>cAa	p.R822Q		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	822				GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.E821Q(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTAATGAACGAAACGGCATG	0.284000														73			5		0	0	1	0	0
C3orf39	84892	broad.mit.edu	37	3	43121648	43121648	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:43121648G>A	uc003cmr.1	-	1	1619	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	C3orf39_uc003cmq.1_Silent_p.L426L|C3orf39_uc021wwn.1_Silent_p.L426L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	426						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CGGCTTTGCAGGATACGGGCT	0.612000														38			10		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832845	113832845	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113832845C>T	uc002tiu.3	+	4	438	c.363C>T	c.(361-363)ttC>ttT	p.F121F	IL1F10_uc002tiv.3_Silent_p.F121F|IL1F10_uc002tiw.3_Silent_p.F113F	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	121						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTGGCTGGTTCCTGTGTGGCC	0.592000														88			4		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185423	154185423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:154185423G>A	uc004fmt.3	-	10	1732	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	521	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGCAGAATTGGAAAATCCTTC	0.383000														60			18		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305151	121305151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121305151C>T	uc003eef.3	+	4	747	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	218						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GGCCTCGGTTCCTGCTTTGTA	0.453000														99			12		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515755	51515755	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:51515755C>T	uc010ric.2	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q157R(1)|p.Q157H(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATACAGATCCTCTTCATCT	0.468000														85			6		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807172	143807172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143807172C>T	uc011ktz.2	+	0	497	c.497C>T	c.(496-498)cCc>cTc	p.P166L		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTAAGGTTGCCCTTCTGTGGG	0.522000														77			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074058	9074058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9074058G>A	uc002mkp.3	-	2	13592	c.13388C>T	c.(13387-13389)aCc>aTc	p.T4463I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4465	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						AGGAGGTATGGTTGTGACCAA	0.507000														59			5		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263294	34263294	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:34263294G>T	uc002nus.4	+	4	1106	c.601G>T	c.(601-603)Ggc>Tgc	p.G201C	CHST8_uc002nut.4_Missense_Mutation_p.G201C|CHST8_uc002nuu.3_Missense_Mutation_p.G201C	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	201					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G201G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCCAAGGCCGGCTGCTCCAA	0.687000														65			5		5.9392e-07	5.99094e-07	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354264	45354264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:45354264G>A	uc002xsl.3	+	1	686	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	197						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AACACACAAGGACCTCATCCC	0.617000														89			12		0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20729854	20729854	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:20729854T>A	uc011ahq.1	-	1	170	c.104A>T	c.(103-105)aAg>aTg	p.K35M	USP41_uc011ahp.1_5'Flank					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GTCCTGCATCTTCTCCAGCAG	0.597000														42			5		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805058	43805058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43805058C>T	uc001ciw.3	+	3	553	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	MPL_uc001civ.3_Missense_Mutation_p.R170C|MPL_uc009vwr.3_Missense_Mutation_p.R163C	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	170	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTACGAACTCCGCTATGGCCC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							91			13		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152453312	152453312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152453312G>A	uc021zhb.1	-	141	26262	c.26039C>T	c.(26038-26040)aCc>aTc	p.T8680I	SYNE1_uc003qos.4_Missense_Mutation_p.T3204I|SYNE1_uc003qot.4_Missense_Mutation_p.T8632I|SYNE1_uc003qou.4_Missense_Mutation_p.T8680I|SYNE1_uc011eez.2_Missense_Mutation_p.T882I|SYNE1_uc003qoq.4_Missense_Mutation_p.T882I|SYNE1_uc003qor.4_Missense_Mutation_p.T1603I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8680	Ser-rich.				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	p.T8680T(1)		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)		AGACCCTGAGGTGTCCAGTTC	0.507000										HNSCC(10;0.0054)				161			16		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366878	10366878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10366878G>A	uc002gmn.3	-	7	842	c.731C>T	c.(730-732)tCc>tTc	p.S244F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	244	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGCGAGAGGAGTTGTCATT	0.438000														92			10		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44593483	44593483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:44593483C>T	uc002lco.3	+	7	796	c.602C>T	c.(601-603)cCt>cTt	p.P201L	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	273						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P201H(2)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GTTGTGTATCCTATAAGGGTA	0.433000														31			3		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698376	17698376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:17698376C>T	uc002grm.3	+	2	2583	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L	RAI1_uc002grn.1_Missense_Mutation_p.P705L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	705						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)		ACAACTGGTCCTCTCTCCTTT	0.592000														91			8		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133558	22133558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22133558G>A	uc010tmd.2	+	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTGCTTTTAGAAAGAAAGAC	0.443000														201			16		0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	400039	400039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:400039C>T	uc002wdp.4	+	4	1202	c.509C>T	c.(508-510)cCa>cTa	p.P170L	RBCK1_uc010zpl.1_Missense_Mutation_p.P170L|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Missense_Mutation_p.P128L|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Nonsense_Mutation_p.Q54*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	170	Interaction with IRF3.|Interaction with TAB2.				T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCTCTGGAGCCAGGCCCCCCA	0.672000														37			6		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29752421	29752421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:29752421G>A	uc003afj.3	-	5	897	c.710C>T	c.(709-711)gCc>gTc	p.A237V	AP1B1_uc003afl.3_Missense_Mutation_p.A237V|AP1B1_uc003afi.3_Missense_Mutation_p.A237V	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	237					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCACCTCTGGGCCTCGCGGTC	0.637000														35			3		0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630651	12630651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:12630651C>T	uc001rao.2	-	6	1877	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	DUSP16_uc001ran.2_Missense_Mutation_p.E224K	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	372					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGGCTGTCCTCTAACAGCGAC	0.622000														41			7		0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44433325	44433325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:44433325C>T	uc002zcq.1	+	4	687	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	PKNOX1_uc002zcp.1_Missense_Mutation_p.P167S|PKNOX1_uc011aex.1_Missense_Mutation_p.P50S|PKNOX1_uc002zcr.3_Missense_Mutation_p.P167S	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	167							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GCCTGGAAGCCCGTACTCACC	0.473000														103			5		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108179190	108179190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108179190C>T	uc003dxa.1	-	17	2006	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	650	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTTTCTTTCGTTTCTTCTC	0.318000														14			3		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769333	15769333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15769333C>T	uc010xok.2	+	10	1332	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y	CYP4F3_uc010xol.2_Missense_Mutation_p.H428Y|CYP4F3_uc002nbj.3_Missense_Mutation_p.H428Y|CYP4F3_uc010xom.2_Missense_Mutation_p.H279Y|CYP4F3_uc002nbk.3_Missense_Mutation_p.H428Y|CYP4F3_uc010xon.2_Missense_Mutation_p.H138Y	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	428					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTTTGGAACCCATCACAACCC	0.597000														347			31		0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53372315	53372315	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:53372315C>T	uc003pbw.2	-	8	1531	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	GCLC_uc003pbv.1_Silent_p.T73T|GCLC_uc021zau.1_Silent_p.T311T	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	349					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTTTATCTATCGTCAAGTCGA	0.373000														163			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599476	179599476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179599476C>T	uc021vsy.1	-	47	11668	c.11443G>A	c.(11443-11445)Gac>Aac	p.D3815N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D476N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4742							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)			CTGCCGACGTCATTCACTGCT	0.363000														97			8		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917611	4917611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4917611C>T	uc003snj.1	-	1	333	c.160G>A	c.(160-162)Gag>Aag	p.E54K	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	54					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTGGAGAGCTCGGCGGGGTCA	0.647000														19			4		0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765281	19765281	+	Silent	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:19765281A>C	uc011jyg.2	-	2	400	c.315T>G	c.(313-315)ctT>ctG	p.L105L	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	111						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACATGGAGGCAAGGTGCAGTG	0.522000														71			9		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39085744	39085744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:39085744C>T	uc004abi.3	-	20	3670	c.3431G>A	c.(3430-3432)gGa>gAa	p.G1144E	CNTNAP3_uc004abj.3_Missense_Mutation_p.G1063E|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_3'UTR	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	1144	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAAACCTTTCCCAATATGAG	0.408000														67			14		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826651	34826651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:34826651C>T	uc003oju.4	+	13	2752	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	840										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGCTCTGCTTCGCCTGAAGGA	0.537000														165			15		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809741	18809741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:18809741C>T	uc001bax.3	+	0	2318	c.2266C>T	c.(2266-2268)Ccg>Tcg	p.P756S	KLHDC7A_uc009vpg.3_Intron	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	756						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCCCGGCCCCGCAGGGCAC	0.627000														181			26		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844743	147844743	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:147844743C>T	uc003weu.2	+	16	3231	c.2715C>T	c.(2713-2715)atC>atT	p.I905I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	905	Laminin G-like 3.				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)			CGCAGCAGATCCGCAAGGCCC	0.567000										HNSCC(39;0.1)				102			5		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763235	20763235	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:20763235G>A	uc001umy.3	-	1	701	c.486C>T	c.(484-486)tcC>tcT	p.S162S	GJB2_uc021rha.1_Silent_p.S162S	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	162					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GCCGCTGCATGGAGAAGCCGT	0.552000									Keratitis, Ichthyosis and Deafness syndrome					61			4		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975898	76975898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:76975898C>T	uc002snr.3	-	3	2111	c.1696G>A	c.(1696-1698)Ggc>Agc	p.G566S	LRRTM4_uc002snq.3_Missense_Mutation_p.G566S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	566						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTCTCGGCCCAGCTCCAGG	0.607000														180			26		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026252	56026252	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:56026252C>T	uc021wzo.1	-	9	2228	c.2088G>A	c.(2086-2088)agG>agA	p.R696R	ERC2_uc003dhr.1_Silent_p.R696R|ERC2_uc003dht.1_Silent_p.R179R	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	696						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)		CAGGGTTCATCCTGGAGTCAT	0.433000														102			8		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241907714	241907714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:241907714G>A	uc001hzg.2	+	11	1667	c.1460G>A	c.(1459-1461)gGg>gAg	p.G487E	WDR64_uc021plh.1_Missense_Mutation_p.G281E|WDR64_uc021pli.1_Missense_Mutation_p.G207E	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	487										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTCGAGACTGGGCTCCAAGTA	0.403000														31			6		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936716	151936716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:151936716G>A	uc003qol.3	+	9	1938	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	617																	TGAGGCTAAGGAGAATAAAGA	0.403000														77			6		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430875	37430875	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37430875C>T	uc021ppc.1	+	6	981	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ANKRD30A_uc001iza.1_Silent_p.F294F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGGAAAGTTCGAACAGTCAG	0.443000														36			5		0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317043	203317043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:203317043G>A	uc001gzr.3	-	1	492	c.356C>T	c.(355-357)tCc>tTc	p.S119F		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	119					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TTCCTGGATGGAGGTGATCTG	0.542000														35			5		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52821064	52821064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52821064G>A	uc003dfs.3	+	13	1867	c.1837G>A	c.(1837-1839)Ggc>Agc	p.G613S	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.G471S|ITIH1_uc021wzg.1_Missense_Mutation_p.G325S|ITIH1_uc021wzh.1_Missense_Mutation_p.G325S|ITIH1_uc003dft.3_Missense_Mutation_p.G214S	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	613	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGCATCAGGGGCATGGCGGA	0.612000														127			16		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677114	100677114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100677114C>T	uc003uxp.1	+	2	2470	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	806	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)					GAAGGAAGTCCTTTATTAACA	0.483000														530			36		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337995	12337995	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12337995C>T	uc001atv.3	+	18	4491	c.4350C>T	c.(4348-4350)agC>agT	p.S1450S	VPS13D_uc001atw.3_Silent_p.S1450S|VPS13D_uc001atx.3_Silent_p.S638S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1450					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)		CTGAAGGAAGCCGGATGTTTT	0.483000														135			19		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	A	A	rs145373937		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:26734223G>A	uc001mra.2	-	1	683	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.R124C	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000														237			24		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360500	175360500	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:175360500C>T	uc001gkp.1	-	4	1512	c.1431G>A	c.(1429-1431)ggG>ggA	p.G477G	TNR_uc009wwu.1_Silent_p.G477G	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	477	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.G477R(1)		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)					TGTATTCCTCCCCAGGCTTTA	0.572000														44			8		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8665662	8665662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:8665662G>A	uc002wnb.3	+	9	949	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	PLCB1_uc010zrb.1_Missense_Mutation_p.E215K|PLCB1_uc002wna.3_Missense_Mutation_p.E316K|PLCB1_uc002wnc.1_Missense_Mutation_p.E215K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	316	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGATTTGAATGAAGACATGTC	0.418000														170			17		0	0	1	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368494	111368494	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:111368494C>T	uc003puq.3	-	0	264	c.129G>A	c.(127-129)ctG>ctA	p.L43L						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		CAATGCAGCCCAGGATGGCCT	0.527000														108			16		0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70486642	70486642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:70486642G>A	uc002sgn.4	+	1	329	c.263G>A	c.(262-264)gGa>gAa	p.G88E	PCYOX1_uc010fdo.3_Missense_Mutation_p.G11E|PCYOX1_uc010yqu.2_Missense_Mutation_p.G88E	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	88					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TACGAGGCAGGAGGTTCTGTC	0.468000														404			16		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22636798	22636798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22636798C>T	uc001wdi.2	+	1	283	c.251C>T	c.(250-252)tCa>tTa	p.S84L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		ATATCTGCTTCATTTAATGAA	0.468000														18			4		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110240799	110240799	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:110240799G>A	uc001tpj.2	-	2	804	c.709C>T	c.(709-711)Cga>Tga	p.R237*	TRPV4_uc001tpg.2_Nonsense_Mutation_p.R203*|TRPV4_uc021rdp.1_Nonsense_Mutation_p.R237*|TRPV4_uc001tph.2_Nonsense_Mutation_p.R237*|TRPV4_uc001tpi.2_Nonsense_Mutation_p.R237*|TRPV4_uc001tpk.2_Nonsense_Mutation_p.R237*	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	237					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCCCACCTCGATAGTAGATG	0.607000														49			3		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349785	134349785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:134349785C>T	uc003qem.1	-	1	1349	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	393						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTTTCCTGGTCCATAAATCAC	0.448000														116			12		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19628935	19628935	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:19628935T>G	uc002ykv.3	+	1	580	c.189T>G	c.(187-189)agT>agG	p.S63R	CHODL_uc002ykr.3_Missense_Mutation_p.S22R|CHODL_uc002yks.3_Missense_Mutation_p.S22R|CHODL_uc021whr.1_Missense_Mutation_p.S22R|CHODL_uc002ykt.3_Missense_Mutation_p.S22R|CHODL_uc002yku.3_Missense_Mutation_p.S22R|CHODL_uc021whs.1_Missense_Mutation_p.S44R	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	63	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CTTGTGAGAGTGAGGGAGGAG	0.498000														56			6		0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35735337	35735337	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35735337C>T	uc003zxv.3	+	5	1030	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.4_5'Flank|CREB3_uc010mla.3_Nonsense_Mutation_p.Q112*	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	217					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		TATGGAGCTTCAGAACAAAGT	0.433000														228			18		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394920	94394920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94394920G>A	uc001ybz.2	+	2	800	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.E97K|FAM181A_uc021saz.1_Missense_Mutation_p.E97K|FAM181A_uc010aus.2_Missense_Mutation_p.E97K|FAM181A_uc001yca.2_Missense_Mutation_p.E97K	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	159										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGGCTGCAAGGAGAAGGTGCT	0.642000														43			8		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51741366	51741366	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:51741366G>A	uc010ufy.2	-	42	9154	c.8929C>T	c.(8929-8931)Cta>Tta	p.L2977L	DMXL2_uc002abd.3_Silent_p.L1068L|DMXL2_uc002abf.3_Silent_p.L2976L|DMXL2_uc010bfa.3_Silent_p.L2340L|DMXL2_uc002abc.3_Non-coding_Transcript	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2976						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.L2976P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAATGAATTAGGCCATGGCCT	0.413000														92			11		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169952209	169952209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169952209C>T	uc010zdc.2	+	4	1184	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	DHRS9_uc002uep.3_Missense_Mutation_p.P298S|DHRS9_uc002ueq.3_Missense_Mutation_p.P298S|DHRS9_uc010zdd.2_Missense_Mutation_p.P298S|DHRS9_uc010zde.2_Missense_Mutation_p.P298S	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	298					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTCTCACATGCCAGCAGCTTT	0.463000														68			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437383	110437383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:110437383C>T	uc003yne.3	+	23	2871	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	923			H -> R (in dbSNP:rs4735133).		immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.K923I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAAAAATTCATATTCAAAG	0.318000										HNSCC(38;0.096)				29			3		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327214	16327214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:16327214G>A	uc003nbt.3	-	7	2299	c.1328C>T	c.(1327-1329)cCa>cTa	p.P443L	ATXN1_uc010jpi.3_Missense_Mutation_p.P443L|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	443					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CACCGGGAGTGGCTCTGAAGC	0.622000														244			22		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10774548	10774548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10774548G>A	uc001qys.2	-	9	1512	c.991C>T	c.(991-993)Cct>Tct	p.P331S		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	331	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTGGTAGGAGGGACTTCAGGA	0.418000										HNSCC(73;0.22)				102			8		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442366	74442366	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:74442366G>A	uc003hhd.1	-	8	1023	c.900C>T	c.(898-900)ttC>ttT	p.F300F	RASSF6_uc003hhc.1_Silent_p.F268F|RASSF6_uc010iik.1_Silent_p.F234F|RASSF6_uc010iil.1_Silent_p.F256F	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	300	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TATCCATGAGGAAAATGCGAG	0.428000														158			9		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32211175	32211175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:32211175C>T	uc011alu.2	+	20	1845	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	DEPDC5_uc011als.2_Missense_Mutation_p.S548F|DEPDC5_uc003als.3_Missense_Mutation_p.S548F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.S548F|DEPDC5_uc003alr.2_Missense_Mutation_p.S548F|DEPDC5_uc011alt.2_Missense_Mutation_p.S520F	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	548					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTCAGCAGCTCCTTGGGATAC	0.542000														113			15		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294354	110294354	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:110294354C>T	uc001dyr.2	-	15	1710	c.1485G>A	c.(1483-1485)cgG>cgA	p.R495R	EPS8L3_uc001dys.2_Silent_p.R465R|EPS8L3_uc001dyq.2_Silent_p.R496R|EPS8L3_uc009wfm.2_Silent_p.R432R|EPS8L3_uc009wfn.2_Silent_p.R440R	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	495	SH3.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGTAGCCGCTCCGTCCCGCCT	0.627000														80			10		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258223	45258223	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:45258223G>A	uc003bfd.3	+	16	1957	c.1680G>A	c.(1678-1680)ttG>ttA	p.L560L	PRR5-ARHGAP8_uc011aqi.2_Silent_p.L472L|PRR5-ARHGAP8_uc011aqj.2_Silent_p.L403L|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Silent_p.L381L|PRR5-ARHGAP8_uc003bfk.3_Silent_p.L350L|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						GGCTGAATTTGATCTGGCCAT	0.522000														120			9		0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30492628	30492628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:30492628C>T	uc003xig.3	-	2	432	c.179G>A	c.(178-180)gGa>gAa	p.G60E		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	60					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GTTAAATGATCCATTGCTATG	0.323000														45			4		0	0	1	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095812	33095812	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:33095812G>A	uc003ocw.1	+	2		c.582G>A								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		CCCCCAGCAGGGAAACATCTA	0.572000														41			11		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200534574	200534574	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200534574G>A	uc010ppk.1	-	24	4325	c.3886_splice	c.e24+1	p.L1296_splice	KIF14_uc010ppj.1_Splice_Site_p.L805_splice	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1296	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTGCTTACAGTTATCTTGAC	0.338000														21			7		0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571848	166571848	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:166571848G>A	uc003qut.1	-	7	1552	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	T_uc003quu.1_Silent_p.G421G|T_uc003quv.1_Silent_p.G363G	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	421					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTATGAGGCGGCCTTGGGCTG	0.632000									Chordoma, Familial Clustering of					208			13		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327822	48327822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:48327822G>A	uc010dpa.3	-	4	673	c.524C>T	c.(523-525)gCc>gTc	p.A175V	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.A161V|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.A161V	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	161						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)		CCCGGCAAAGGCAGCCAATTG	0.463000														141			13		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622410	41622410	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41622410G>A	uc002opu.1	+	2	278	c.222G>A	c.(220-222)cgG>cgA	p.R74R	CYP2F1_uc021uuv.1_5'UTR|CYP2F1_uc010xvv.1_Silent_p.R74R|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	74					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGGCGGGTGGTGGTCC	0.597000														135			13		0	0	1	0	0
PBOV1	59351	broad.mit.edu	37	6	138539186	138539186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:138539186G>A	uc003qhv.3	-	0	442	c.347C>T	c.(346-348)aCc>aTc	p.T116I	KIAA1244_uc003qhu.3_Intron	NM_021635	NP_067648	Q9GZY1	PBOV1_HUMAN	Homo sapiens prostate and breast cancer overexpressed 1 (PBOV1), mRNA.	116						cytoplasm|nucleus				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		CAGACCTAGGGTCTGAGTTAA	0.398000														67			7		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828636	59828636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59828636G>A	uc001nom.3	+	1	131	c.3G>A	c.(1-3)atG>atA	p.M1I	MS4A3_uc001non.3_Missense_Mutation_p.M1I|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	1						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAACCCCAATGGCCTCCCACG	0.483000														55			6		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20569216	20569216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:20569216G>A	uc003gpr.1	+	27	3130	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	SLIT2_uc003gps.1_Missense_Mutation_p.E968K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	976	EGF-like 2.				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						CCACTTAAAGGAAGGAGAAGA	0.433000														43			5		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605689	142605689	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142605689G>A	uc003wby.1	-	14	2445	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	727	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.V726I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATCAAAAATGGTAGACCTCCT	0.537000														112			5		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955512	215955512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:215955512G>A	uc001hku.1	-	53	10999	c.10612C>T	c.(10612-10614)Cga>Tga	p.R3538*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3538	Fibronectin type-III 20.				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)		ATTCCATTTCGAAGAAGGATG	0.343000										HNSCC(13;0.011)				39			4		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650188	75650188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:75650188G>A	uc004ecm.2	+	0	2143	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	622	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCCATTTTTGGGAACCCAAAG	0.488000														23			5		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236882221	236882221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:236882221G>A	uc001hyf.2	+	2	473	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.G90E	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	90	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGACCGGGGAAAAATGCGG	0.473000														61			4		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475961	140475961	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140475961C>T	uc003lil.3	+	0	1725	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	PCDHB2_uc003lim.1_Silent_p.F190F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCGTTCGAGTTCCGCG	0.701000														97			11		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72955945	72955945	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72955945G>A	uc001sxa.3	+	8	1684	c.1654_splice	c.e8-1	p.D552_splice		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	552					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						ATTCTTGTAGGATTATTTAAC	0.264000														32			3		0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81577238	81577238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:81577238C>T	uc003yby.2	-	5	971	c.739G>A	c.(739-741)Gca>Aca	p.A247T		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	247						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AGCCCGTCTGCCACTGAGTCT	0.522000														72			6		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190599	6190599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6190599G>A	uc010qzy.2	-	0	958	c.958C>T	c.(958-960)Cct>Tct	p.P320S		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCCCAGAGGGGAGGTACAG	0.473000														62			4		0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688698	131688698	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:131688698G>A	uc002tsa.1	+	2	687	c.168G>A	c.(166-168)agG>agA	p.R56R	ARHGEF4_uc010fmw.1_Silent_p.R702R|ARHGEF4_uc002tsb.1_Silent_p.R56R|ARHGEF4_uc010fmx.1_Silent_p.R56R|ARHGEF4_uc002trz.1_Silent_p.R702R	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	56					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CACAGCCTAGGGGCATCCCTC	0.607000														30			3		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55571371	55571371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:55571371G>A	uc021pqv.1	-	32	4410	c.4382C>T	c.(4381-4383)cCa>cTa	p.P1461L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Missense_Mutation_p.P1459L	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA.	0					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)				CAGACTCCATGGATAATTCCT	0.328000										HNSCC(58;0.16)				24			3		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262068	158262068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158262068G>A	uc001fru.3	+	2	815	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	175					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGGCGTCACAGAAACAGTGTA	0.463000														281			25		0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973868	117973868	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:117973868C>T	uc021qrd.1	+	3	501	c.210C>T	c.(208-210)ttC>ttT	p.F70F	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Silent_p.F70F|TMPRSS4_uc010rxo.2_Silent_p.F68F|TMPRSS4_uc010rxs.2_Silent_p.F30F|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Silent_p.F45F|TMPRSS4_uc010rxt.2_Silent_p.F45F	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	70	LDL-receptor class A.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCTCCACTTCATCCCGAGGA	0.592000														196			14		0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114540849	114540849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:114540849G>A	uc004eqa.3	+	3	456	c.422G>A	c.(421-423)gGa>gAa	p.G141E	LUZP4_uc004eqb.3_Missense_Mutation_p.G59E	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	141						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CAATCAGAAGGAAATCCGGAC	0.458000														29			7		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38962605	38962605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38962605G>A	uc021wvy.1	-	5	1053	c.854C>T	c.(853-855)tCg>tTg	p.S285L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	285					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACAGTCCCTCGAGATGCATTT	0.438000														218			16		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28984712	28984712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:28984712C>T	uc003xhh.4	-	24	3208	c.3149G>A	c.(3148-3150)tGt>tAt	p.C1050Y	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1050					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGACAGTATACATTCTTCCAT	0.458000														93			10		0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24905653	24905653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:24905653G>A	uc010tpc.2	+	6	1884	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	KHNYN_uc001wph.4_Missense_Mutation_p.R582Q|KHNYN_uc010alw.3_Missense_Mutation_p.R582Q	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	582										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CCACTGGGGCGAAACGGCCCC	0.567000											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			6		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87795236	87795236	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:87795236G>A	uc003ujn.3	+	23	2381	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	ADAM22_uc003ujk.2_Silent_p.K722K|ADAM22_uc003ujl.2_Silent_p.K722K|ADAM22_uc003ujm.3_Silent_p.K722K|ADAM22_uc003ujo.3_Silent_p.K722K|ADAM22_uc003ujp.1_Silent_p.K774K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	722					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGATGCAAAGACTGGTATCA	0.383000														53			11		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100199320	100199320	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:100199320G>A	uc002taf.3	-	15	2952	c.2808C>T	c.(2806-2808)gcC>gcT	p.A936A	AFF3_uc002tag.3_Silent_p.A911A|AFF3_uc010fiq.1_Silent_p.A911A|AFF3_uc010yvr.1_Silent_p.A1064A|AFF3_uc002tah.1_Silent_p.A936A	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	911					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCTGGAAGAGGCTGAAGTAA	0.498000														84			7		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722444	14722444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:14722444C>T	uc003zlj.3	-	0	272	c.227G>A	c.(226-228)aGa>aAa	p.R76K		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	76					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CATCTTCTCTCTCTGCCTCTG	0.567000														93			9		0	0	1	0	0
PECAM1	5175	broad.mit.edu	37	17	62399248	62399248	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:62399248C>T	uc002jef.2	-	1		c.1982G>A						P16284	PECA1_HUMAN	Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA.						cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction	cell junction|extracellular space|integral to membrane|platelet alpha granule membrane	protein binding							BRCA - Breast invasive adenocarcinoma(8;1.28e-12)			TAAGGAACTCCCTGGACACAG	0.537000														50			6		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057221	95057221	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95057221C>T	uc001ydm.2	+	4	1236	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	342					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ACTCAAATATCCAGGTGTCTG	0.488000														89			15		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22284557	22284557	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22284557G>A	uc001mqi.2	+	16	2183	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	ANO5_uc001mqj.2_Silent_p.Q621Q	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	622						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGAAACAGATTTTTGGAA	0.358000														58			4		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29440777	29440777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:29440777G>A	uc003aeg.3	+	4	643	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ZNRF3_uc021wnq.1_Missense_Mutation_p.E115K	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	215						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCAACCCACTGAATACTTTGA	0.512000														86			21		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715330	68715330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:68715330G>A	uc003jwq.3	+	1	192	c.118G>A	c.(118-120)Gca>Aca	p.A40T	MARVELD2_uc010ixf.3_Missense_Mutation_p.A40T|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	40					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAGTGAGCGGGCAGTGAGCGC	0.562000														88			9		0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171761353	171761353	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171761353C>T	uc001ghz.3	+	5	2018	c.1671C>T	c.(1669-1671)gcC>gcT	p.A557A	METTL13_uc001gia.3_Silent_p.A471A|METTL13_uc001gib.3_Silent_p.A401A|METTL13_uc010pml.2_Silent_p.A556A|METTL13_uc001gic.1_5'Flank	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	557							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ACTATATCGCCAGCTTGGCAG	0.547000														107			14		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476507	17476507	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17476507T>C	uc002ngk.1	-	2	807	c.767A>G	c.(766-768)aAc>aGc	p.N256S		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	256						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGGTAGAGGTTGTAACCCAG	0.612000														143			14		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127645737	127645737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:127645737C>T	uc003kuu.3	-	39	5577	c.5138G>A	c.(5137-5139)gGa>gAa	p.G1713E		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1713	EGF-like 28; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTGTAATTTCCCAGGGTGTT	0.433000														88			4		0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689406	60689406	+	Silent	SNP	C	T	T	rs143462464	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60689406C>T	uc001nqg.3	+	3	879	c.501C>T	c.(499-501)atC>atT	p.I167I	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	167						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGCTTGTCATCTTCCTGGCCG	0.662000														125			15		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566459	5566459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5566459C>T	uc010qzh.2	-	0	295	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E99K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTGATTTCGCGAGCCCCT	0.468000														67			9		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924697	188924697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:188924697C>T	uc003izh.1	+	3	1144	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ZFP42_uc003izi.1_Missense_Mutation_p.R246W|ZFP42_uc021xvm.1_Missense_Mutation_p.R246W	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	246					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGCCGTTTCGGTGCACTTT	0.522000														35			6		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32084285	32084286	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32084285_32084286GG>AA	uc003nzn.3	-	16	1886_1887	c.1853_1854CC>TT	c.(1852-1854)tcc>tTT	p.S618F	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Missense_Mutation_p.S191F|ATF6B_uc003nzo.3_Missense_Mutation_p.S615F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	618					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCATCACCAGGGACATCTTGGG	0.624000														76			8		0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5929972	5929972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:5929972C>T	uc010qat.2	-	1	916	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ANKRD16_uc009xie.3_Missense_Mutation_p.E125K|ANKRD16_uc009xif.3_Missense_Mutation_p.E125K|ANKRD16_uc001iiq.3_Missense_Mutation_p.E125K|FBXO18_uc001iir.3_5'Flank|FBXO18_uc001iis.3_5'Flank|FBXO18_uc009xig.3_5'Flank	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	125										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCGCCATGTTCCACCAGCTCC	0.557000														142			17		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473590	141473590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141473590G>A	uc002tvj.1	-	36	6947	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1992					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGCCTTGGGAAATAATTAC	0.353000										TSP Lung(27;0.18)				47			6		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578863	82578863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82578863C>T	uc003uhx.2	-	5	11330	c.11041G>A	c.(11041-11043)Gac>Aac	p.D3681N	PCLO_uc003uhv.2_Missense_Mutation_p.D3681N|PCLO_uc010lec.3_Missense_Mutation_p.D646N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3612					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D3681H(3)|p.D3612H(1)		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						GGCTTGGGGTCAGACATAGAA	0.483000														161			13		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713986	183713986	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:183713986A>T	uc003ivd.1	+	24	6236	c.6161A>T	c.(6160-6162)gAg>gTg	p.E2054V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2054					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)		GGCAAAGTTGAGCAGTTTGGA	0.403000														63			4		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128577864	128577864	+	Silent	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:128577864T>G	uc003ifk.2	+	2	859	c.756T>G	c.(754-756)ccT>ccG	p.P252P	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	252	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTGCATTCCTGGACCTATGC	0.328000														96			6		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923450	226923450	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:226923450G>A	uc010pvo.2	-	1	2050	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	ITPKB_uc001hqh.3_Silent_p.I570I	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	570							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.I96I(1)|p.I570I(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGTCTGTAATGATGACAGCAG	0.612000														37			9		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438559	120438559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:120438559C>T	uc001eij.3	-	0	589	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	134					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAATACACCTCGGAGACCCCC	0.458000														106			8		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49660530	49660530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:49660530C>T	uc003ozn.2	-	9	924	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	CRISP2_uc003ozr.2_Missense_Mutation_p.E230K|CRISP2_uc003ozo.2_Missense_Mutation_p.E230K|CRISP2_uc003ozm.2_Missense_Mutation_p.E265K|CRISP2_uc003ozp.2_Missense_Mutation_p.E230K|CRISP2_uc003ozq.2_Missense_Mutation_p.E230K|CRISP2_uc003ozl.2_Missense_Mutation_p.E230K	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	230						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCACTTTTCCTTGAGTAAC	0.393000														51			4		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15714669	15714669	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:15714669T>A	uc001ioc.1	-	6	756	c.756A>T	c.(754-756)gaA>gaT	p.E252D	ITGA8_uc010qcb.1_Missense_Mutation_p.E252D	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	252					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCGTCTGCTTTTCTCCTGCCA	0.403000														62			6		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447216	43447216	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:43447216G>A	uc003tid.1	+	7	1292	c.687G>A	c.(685-687)ctG>ctA	p.L229L	HECW1_uc011kbi.1_Silent_p.L229L|HECW1_uc003tie.1_Silent_p.L261L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	229	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCTTATCTGAAGATTTCCA	0.443000														48			6		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771361	143771361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143771361C>T	uc011ktx.2	+	0	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACTGGGATTTCCCATTGGCCC	0.488000														111			11		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200977979	200977979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200977979C>T	uc001gvs.2	-	2	682	c.365G>A	c.(364-366)gGg>gAg	p.G122E	KIF21B_uc009wzl.2_Missense_Mutation_p.G122E|KIF21B_uc001gvr.2_Missense_Mutation_p.G122E|KIF21B_uc010ppn.2_Missense_Mutation_p.G122E	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	122	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGCAATGCCCCCAAAGAGGTG	0.642000														180			7		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778729	14778729	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:14778729C>T	uc001rcd.3	-	20	2507	c.2370G>A	c.(2368-2370)agG>agA	p.R790R		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	790					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAGCCCTGTCCCTCTCTGCCT	0.453000														114			14		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28843760	28843760	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:28843760T>C	uc002rmb.2	+	48	3486	c.3442T>C	c.(3442-3444)Ttc>Ctc	p.F1148L	PLB1_uc010ezj.2_Missense_Mutation_p.F1137L|PLB1_uc002rme.2_Missense_Mutation_p.F113L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1148	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTGAAGAAGTTCAACCCTTA	0.557000														209			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720289	140720289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140720289C>T	uc003ljk.2	+	0	1936	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.P584L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	585	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCAGAGCCCGGCTACCTG	0.662000														216			18		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48733226	48733226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48733226G>A	uc002isl.3	+	1	159	c.79G>A	c.(79-81)Gac>Aac	p.D27N	ABCC3_uc002isk.4_Missense_Mutation_p.D27N	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	27					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGAAAACCCGGACCTCACTCC	0.592000														86			9		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123182191	123182191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:123182191G>A	uc004bkf.3	-	26	4233	c.4052C>T	c.(4051-4053)cCt>cTt	p.P1351L	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.P360L|CDK5RAP2_uc004bke.3_Missense_Mutation_p.P636L|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.P1351L|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.P616L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.P616L|CDK5RAP2_uc011lya.2_Missense_Mutation_p.P616L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P1121L|CDK5RAP2_uc004bki.3_Missense_Mutation_p.P1118L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1351					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAAGGCTCAGGAGATTCAGG	0.423000														82			20		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338483	186338483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:186338483C>T	uc003fqk.4	+	6	949	c.868C>T	c.(868-870)Cca>Tca	p.P290S		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	290					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGGACTCCCTCCAGCTGGCTC	0.637000														257			25		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158914729	158914729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158914729C>T	uc003qrf.3	+	9	3113	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S	TULP4_uc003qrg.3_Missense_Mutation_p.P586S	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	586					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGAGAGTTTCCTTTTGAAGA	0.667000														94			7		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034584	91034584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:91034584C>T	uc002bpl.1	+	33	4369	c.4268C>T	c.(4267-4269)gCc>gTc	p.A1423V	IQGAP1_uc010uqg.1_Missense_Mutation_p.A44V	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1423	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATCAGAGAGCCATGCAGAGA	0.403000														31			5		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863396	23863396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23863396C>T	uc001wjv.3	-	20	2637	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	856					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGAACTCTTCCTTCATGGTG	0.562000														152			9		0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128880613	128880613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:128880613C>T	uc004eut.1	+	5	690	c.446C>T	c.(445-447)cCt>cTt	p.P149L	XPNPEP2_uc011mum.2_Missense_Mutation_p.P149L	NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	149					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ACCGAGATTCCTGCTGGAGGG	0.537000														121			29		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966937	39966937	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39966937C>T	uc003ayc.3	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CACNA1I_uc003ayd.3_Silent_p.F60F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	60					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)	TTGCCTTCTTCTGCCTGCGAC	0.657000														226			42		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38886289	38886289	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:38886289C>T	uc003jln.2	+	6	1390	c.988C>T	c.(988-990)Cga>Tga	p.R330*	OSMR_uc003jlm.2_Nonsense_Mutation_p.R330*	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	330					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCTGACTCATCGAGGTGAGAC	0.408000														72			4		0	0	1	0	0
TMEM79	84283	broad.mit.edu	37	1	156261256	156261256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:156261256C>T	uc010phi.2	+	3	1248	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	TMEM79_uc001fod.3_Missense_Mutation_p.S192L|TMEM79_uc009wrw.3_Missense_Mutation_p.S351L|C1orf85_uc001fof.4_Intron	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	351						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCACTGCTGTCGATGCTGATG	0.627000														218			25		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19475128	19475128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:19475128G>A	uc002dgc.4	+	7	2016	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	TMC5_uc010vaq.2_Missense_Mutation_p.E423K|TMC5_uc002dgb.4_Missense_Mutation_p.E423K|TMC5_uc010var.2_Missense_Mutation_p.E423K|TMC5_uc002dgd.1_Missense_Mutation_p.E177K|TMC5_uc002dge.4_Missense_Mutation_p.E177K|TMC5_uc002dgf.4_Missense_Mutation_p.E106K|TMC5_uc002dgg.4_Missense_Mutation_p.E64K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	423						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCTGTCGGAAATTCTGAA	0.478000														71			5		0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130494319	130494319	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:130494319G>A	uc004brs.4	-	4	1039	c.960C>T	c.(958-960)ttC>ttT	p.F320F	TOR2A_uc022bnq.1_Silent_p.F158F|TOR2A_uc004bru.4_Silent_p.F158F|TOR2A_uc004brv.4_3'UTR|TOR2A_uc011maj.2_3'UTR|TOR2A_uc004brt.4_3'UTR|TOR2A_uc004brw.4_3'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA.	320					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						AGAGTCAGAGGAAGAAGGCGA	0.607000														58			7		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526407	234526407	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:234526407G>A	uc002vup.3	+	0	117	c.54G>A	c.(52-54)ctG>ctA	p.L18L	UGT1A1_uc010zmv.1_Silent_p.L18L	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	17					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTCTGCTGCTGACCTGTGGCT	0.577000														84			14		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181798	47181798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:47181798G>A	uc001rpi.2	-	4	626	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC38A4_uc001rpj.2_Missense_Mutation_p.S76F|SLC38A4_uc009zkl.2_Missense_Mutation_p.S76F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	76					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTCCAAAGGAAGTGGTTCC	0.433000														33			3		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046067	201046067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:201046067G>A	uc001gvv.3	-	11	2035	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	603					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	gctgatgagggCTTGGGGAAA	0.542000														146			8		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735141	54735141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:54735141G>A	uc003pck.3	+	1	213	c.97G>A	c.(97-99)Gat>Aat	p.D33N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	33										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTAGCCATTGATATTCTGAT	0.378000														114			12		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246452	56246452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:56246452C>T	uc002lhj.4	-	3	1770	c.1556G>A	c.(1555-1557)aGa>aAa	p.R519K		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	519							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						TCCCCCCACTCTCTTGTCAGC	0.517000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		234			18		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731246	57731246	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:57731246T>C	uc010bfw.3	+	2	1242	c.1049T>C	c.(1048-1050)aTt>aCt	p.I350T	CGNL1_uc002aeg.3_Missense_Mutation_p.I350T	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	350	Head.					myosin complex|tight junction	motor activity	p.S349S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACAGGATCAATTCCTGGTGTG	0.438000														43			8		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14689560	14689560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:14689560C>T	uc001rcc.1	-	4	804	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	215					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTAGGCTGCCGTTTTTTGTG	0.448000														92			11		0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118891771	118891771	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:118891771A>C	uc001ldb.1	-	3	755	c.510T>G	c.(508-510)aaT>aaG	p.N170K		NM_199131	NP_954582	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 2, mRNA.	0						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GAGACTCATCATTTGCTGGCT	0.473000														60			10		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190250839	190250839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:190250839C>T	uc001gse.1	-	2	510	c.278G>A	c.(277-279)aGa>aAa	p.R93K	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	93						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAAATTTCTTCTCTCAACTGC	0.398000														30			5		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351798	57351798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:57351798G>A	uc001cyo.2	+	6	1186	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	352	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGGCATTTATGAATATATCCT	0.413000														77			6		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958711	49958711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:49958711G>A	uc004dow.1	-	4	777	c.653C>T	c.(652-654)tCc>tTc	p.S218F	AKAP4_uc004dou.1_Missense_Mutation_p.S209F|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S40F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	218					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACGTAGAAGGAAAGGTCATC	0.438000														64			11		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013022	103013022	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103013022G>A	uc002tbw.4	+	10	1452	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	IL18R1_uc010ywd.2_Silent_p.E278E|IL18R1_uc010fiy.3_Silent_p.E434E|IL18R1_uc010ywc.2_Silent_p.E433E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	434	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CACTGATAGAGAAAAGCCGAA	0.358000														39			8		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343480	72343480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:72343480C>T	uc002llw.2	+	0	558	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	ZNF407_uc010xfc.2_Missense_Mutation_p.P169S|ZNF407_uc010dqu.2_Missense_Mutation_p.P169S|ZNF407_uc002llu.2_Missense_Mutation_p.P168S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATCTCCTTTCCCCCCGAAAGA	0.393000														84			9		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17542924	17542924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:17542924C>T	uc001mnf.3	-	12	1163	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	USH1C_uc001mne.3_Missense_Mutation_p.E352K|USH1C_uc009yhb.3_Missense_Mutation_p.E333K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.E316K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	352					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCTCATTTTCCTCTGCTGCC	0.493000														218			14		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770288	38770289	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:38770288_38770289GG>AA	uc003ciq.3	-	14	2384_2385	c.2384_2385CC>TT	c.(2383-2385)gcc>gTT	p.A795V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	795					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)	AGACAATGATGGCCAGGATGAT	0.525000														105			10		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245703	6245703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6245703G>A	uc001mck.4	-	1	403	c.44C>T	c.(43-45)cCt>cTt	p.P15L	FAM160A2_uc001mcl.4_Missense_Mutation_p.P15L|FAM160A2_uc001mcm.2_Missense_Mutation_p.P15L	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	15					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						ACGGTGCCCAGGGCCCCGGGA	0.597000														77			9		0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124553245	124553245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124553245G>A	uc003yqr.3	-	0	249	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	FBXO32_uc010mdk.3_Missense_Mutation_p.L4F	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	4										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTGCCCGAGGAATGGCATG	0.701000														43			7		0	0	1	0	0
AK057473	0	broad.mit.edu	37	17	20805531	20805531	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:20805531G>A	uc002gyg.1	+	4		c.715_splice	c.e4-1		AK057473_uc002gyh.1_Splice_Site					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TGCCACCCAGGAAGTCTAATG	0.493000														207			6		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73719404	73719404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:73719404C>T	uc010ttx.2	+	9	1178	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	PAPLN_uc001xnw.4_Missense_Mutation_p.P312S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P339S	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	339	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGAGGCCTACCCCGACCACAT	0.657000														168			9		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482531	20482531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20482531G>A	uc010bwe.3	+	5	972	c.733G>A	c.(733-735)Gat>Aat	p.D245N	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.D166N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D245N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D245N|ACSM2A_uc010vay.2_Missense_Mutation_p.D166N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	245					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCCAAGATGGATGCTGGGTA	0.473000														54			9		0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005809	118005809	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:118005809C>T	uc003ibv.4	-	0	928	c.741G>A	c.(739-741)caG>caA	p.Q247Q		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	247	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ATATGCCTTTCTGGTACTTTT	0.408000														59			4		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882774	42882774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42882774G>A	uc002ihj.3	-	1	923	c.412C>T	c.(412-414)Cct>Tct	p.P138S	GJC1_uc002ihk.3_Missense_Mutation_p.P138S|GJC1_uc002ihl.3_Missense_Mutation_p.P138S|GJC1_uc021tyf.1_Missense_Mutation_p.P138S	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	138					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TACATCATAGGATCCTCTTCG	0.507000														126			13		0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41006293	41006293	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:41006293C>T	uc001cft.2	+	2	302	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CTGTGGATTTCACTGCAGAGG	0.443000														140			12		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465073	5465073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:5465073C>T	uc003jdm.4	+	12	5848	c.5626C>T	c.(5626-5628)Cct>Tct	p.P1876S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1876										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGGAACCTCCCTCCAGCTGA	0.502000														20			5		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128248	56128248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56128248C>T	uc010rjh.2	+	0	558	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	176					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)					TATAATCAATCATTTTTACTG	0.368000														34			4		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992898	124992898	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124992898G>A	uc003yqw.3	+	10	1463	c.1257G>A	c.(1255-1257)ctG>ctA	p.L419L		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	419						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAAGGCCCTGAAGGAGCTCA	0.463000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			4		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60640706	60640706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60640706C>T	uc001nqd.3	+	6	1204	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L	ZP1_uc001nqe.3_Missense_Mutation_p.S102L	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	395	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCACCCCCATCGCCTGCTCCT	0.602000														240			21		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525106	248525106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248525106C>T	uc001ieh.1	+	0	224	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGGAAATGCTGTCCTGATC	0.463000														234			8		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152831412	152831412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152831412G>A	uc021zhb.1	-	5	720	c.497C>T	c.(496-498)cCa>cTa	p.P166L	SYNE1_uc003qot.4_Missense_Mutation_p.P173L|SYNE1_uc003qou.4_Missense_Mutation_p.P166L|SYNE1_uc010kjb.1_Missense_Mutation_p.P166L|SYNE1_uc003qpa.1_Missense_Mutation_p.P166L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	166	Actin-binding.				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)		TTTACTTGGTGGGCTGGGAGT	0.488000										HNSCC(10;0.0054)				86			4		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590848	31590848	+	Missense_Mutation	SNP	C	T	T	rs61731083	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31590848C>T	uc002rnv.1	-	19	2255	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	726					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTATCTGCTTCGGAAAACCCC	0.448000														213			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34174747	34174747	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34174747C>A	uc001bxm.1	-	21	3695	c.3518G>T	c.(3517-3519)gGg>gTg	p.G1173V	CSMD2_uc001bxn.1_Missense_Mutation_p.G1133V|CSMD2_uc001bxo.1_Missense_Mutation_p.G46V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1133	CUB 7.					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)				AATTCCCTTCCCTGGCTGGGT	0.453000														135			21		2.41591e-17	2.44762e-17	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86377425	86377425	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:86377425C>T	uc010sum.2	-	4	402	c.243G>A	c.(241-243)agG>agA	p.R81R	MGAT4C_uc001tal.4_Silent_p.R57R|MGAT4C_uc001taj.4_Silent_p.R57R|MGAT4C_uc001tak.4_Silent_p.R57R|MGAT4C_uc001tai.4_Silent_p.R57R|MGAT4C_uc001tah.4_Silent_p.R57R	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	57					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGGATGTTTCCCTTATAAGTT	0.328000														99			9		0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953433	8953433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8953433C>T	uc002mko.2	+	0	165	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	27	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CACCTCAATCCCTTTGAGAAT	0.468000														64			6		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991248	28991248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28991248G>A	uc002kwr.2	+	13	2384	c.2249G>A	c.(2248-2250)gGa>gAa	p.G750E	DSG4_uc002kwq.2_Missense_Mutation_p.G731E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	731					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTGTATCGGGAGTGGAGCTC	0.602000														114			16		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96264374	96264374	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:96264374T>C	uc001vmk.3	-	10	2083	c.1231A>G	c.(1231-1233)Aat>Gat	p.N411D	DZIP1_uc001vml.3_Missense_Mutation_p.N411D	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	411					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			tagaaaacattgcttgcattt	0.413000														62			4		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76906017	76906017	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:76906017G>A	uc001xsr.3	+	3	692	c.321G>A	c.(319-321)ggG>ggA	p.G107G	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.G107G	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.C106Y(1)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TCGTGTGCGGGGACATTGCCT	0.617000														46			9		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656186	12656186	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:12656186G>A	uc002gno.2	+	9	1880	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	MYOCD_uc002gnn.2_Silent_p.V527V|MYOCD_uc002gnp.1_Silent_p.V431V|MYOCD_uc002gnq.2_Silent_p.V246V	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	527					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)		AGCAGAAGGTGATCAATGAAC	0.517000														23			7		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480400	73480400	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:73480400A>T	uc003xzb.3	+	1	1019	c.431A>T	c.(430-432)aAa>aTa	p.K144I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	144					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TATCATCAAAAAAAAGAACAA	0.448000														81			5		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924156	188924156	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:188924156G>A	uc003izh.1	+	3	603	c.195G>A	c.(193-195)ggG>ggA	p.G65G	ZFP42_uc003izi.1_Silent_p.G65G|ZFP42_uc021xvm.1_Silent_p.G65G	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	65					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CTCTCGGAGGGGATGATTTCT	0.507000														60			4		0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48486970	48486970	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:48486970C>T	uc003gyc.2	+	1	831	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	204						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCATCTCCTCCACGCTTCTGG	0.507000														294			9		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672913	27672913	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27672913G>A	uc002rku.3	-	35	4053	c.4002C>T	c.(4000-4002)gtC>gtT	p.V1334V	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1334					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCCAGAACGACTTCCATAT	0.473000														84			13		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946168	138946168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138946168C>T	uc011kqr.2	+	5	1076	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	BC045656_uc022amp.1_5'Flank|UBN2_uc003vuv.3_Missense_Mutation_p.P82L	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	359								p.P359S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATAAACCCCCATGTGCTGCT	0.473000														86			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708490	152708490	+	Nonsense_Mutation	SNP	C	T	T	rs145493303		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152708490C>T	uc021zhb.1	-	51	8427	c.8204G>A	c.(8203-8205)tGg>tAg	p.W2735*	SYNE1_uc003qot.4_Nonsense_Mutation_p.W2742*|SYNE1_uc003qou.4_Nonsense_Mutation_p.W2735*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.W2718*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2735					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)		ATAGTCATTCCATTGGCTAAT	0.373000										HNSCC(10;0.0054)				63			12		0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12963211	12963211	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:12963211T>C	uc002krq.3	+	3	500	c.362T>C	c.(361-363)tTt>tCt	p.F121S	SEH1L_uc002krr.3_Missense_Mutation_p.F121S	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	121					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GATGTGAAGTTTGCTCCCAAG	0.363000														142			17		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283337	152283337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152283337G>A	uc001ezu.1	-	2	4061	c.4025C>T	c.(4024-4026)gCt>gTt	p.A1342V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1342	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATGACACAGCCTGTCCATG	0.552000									Ichthyosis					607			73		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921491	12921491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12921491G>A	uc001aum.1	+	3	1369	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	428										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)		TGTCAATTGGGAGATCTTCAC	0.567000														182			17		0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568525	43568525	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43568525G>A	uc003bdq.3	-	9	1439	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	TTLL12_uc003bdp.3_5'Flank|TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	459	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CTTCTCGAAGGAACAACACGG	0.582000														112			15		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169571510	169571510	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:169571510G>A	uc002uec.1	+	7	734	c.610_splice	c.e7-1	p.D204_splice	CERS6_uc002ueb.1_Splice_Site_p.D204_splice	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	204	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTTTCCTCAAGGACTTTGGCA	0.403000														140			12		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852311	15852311	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15852311C>T	uc010xoq.2	+	0	109	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCTGATGTTCCTGTTCACATT	0.498000														222			24		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417818	54417818	+	Silent	SNP	G	A	A	rs149797266		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:54417818G>A	uc002qcr.2	+	1	356	c.261G>A	c.(259-261)acG>acA	p.T87T	CACNG7_uc010era.2_Silent_p.T87T	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	87					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATTTGGTGACGGAAAACACGG	0.552000														85			8		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026106	16026106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:16026106G>A	uc010lsu.3	-	3	609	c.545C>T	c.(544-546)tCc>tTc	p.S182F	MSR1_uc003wwz.3_Missense_Mutation_p.S164F|MSR1_uc003wxa.3_Missense_Mutation_p.S164F|MSR1_uc003wxb.3_Missense_Mutation_p.S164F|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	164					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGGACTGAGGAAAACAAGGT	0.388000														108			11		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359754	16359754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:16359754G>A	uc002wpg.2	-	18	3052	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*	KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q347*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q347*|KIF16B_uc010gch.2_Nonsense_Mutation_p.Q965*|KIF16B_uc010gci.2_Nonsense_Mutation_p.Q965*|KIF16B_uc010gcj.2_Nonsense_Mutation_p.Q976*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	965	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTTGCAGCTGGTTTGCATTG	0.443000														123			10		0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028737	100028737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100028737C>T	uc003uuw.3	+	0	1484	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_5'UTR|MEPCE_uc022aio.1_5'UTR|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	366							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCGCAAACGTCGCAGGACTTC	0.637000														224			9		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241973164	241973164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:241973164C>T	uc002wah.1	+	2	514	c.514C>T	c.(514-516)Cag>Tag	p.Q172*		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	172	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CAACACATTCCAGACTGTGCT	0.617000														32			3		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408369	2408369	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2408369G>A	uc010xgx.2	+	6	756	c.756G>A	c.(754-756)acG>acA	p.T252T	TMPRSS9_uc002lvv.1_Silent_p.T286T	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	252	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		AAGACCCGACGAAGTGGGTGG	0.657000														68			5		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619151	64619151	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:64619151G>A	uc003dmg.3	-	13	2204	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C	ADAMTS9_uc011bfo.2_Silent_p.C696C|ADAMTS9_uc003dmh.1_Silent_p.C553C|ADAMTS9_uc003dmk.1_Silent_p.C724C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	724	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GACTTACCCGGCAAAGGCCCT	0.488000														93			11		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26731734	26731734	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:26731734T>C	uc001rhg.3	-	33	4959	c.4542A>G	c.(4540-4542)caA>caG	p.Q1514Q		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1514					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGAAGGCAGATTGCAGTAGCT	0.433000														52			5		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701833	48701833	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48701833C>T	uc002irk.1	+	36	6714	c.6342C>T	c.(6340-6342)atC>atT	p.I2114I	CACNA1G_uc002irj.1_Silent_p.I1987I|CACNA1G_uc002irl.1_Silent_p.I1998I|CACNA1G_uc002irm.1_Silent_p.I2035I|CACNA1G_uc002irn.1_Silent_p.I1980I|CACNA1G_uc002iro.1_Silent_p.I1987I|CACNA1G_uc002irp.1_Silent_p.I2069I|CACNA1G_uc002irq.1_Silent_p.I2091I|CACNA1G_uc002irr.1_Silent_p.I2021I|CACNA1G_uc002irs.1_Silent_p.I2058I|CACNA1G_uc002irt.1_Silent_p.I2003I|CACNA1G_uc002iru.1_Silent_p.I2080I|CACNA1G_uc002irv.1_Silent_p.I2010I|CACNA1G_uc002irw.1_Silent_p.I2043I|CACNA1G_uc002irx.1_Silent_p.I1934I|CACNA1G_uc002iry.1_Silent_p.I1923I|CACNA1G_uc002isg.1_Silent_p.I1882I|CACNA1G_uc002ish.1_Silent_p.I1889I|CACNA1G_uc002isi.1_Silent_p.I1877I|CACNA1G_uc002irz.1_Silent_p.I1927I|CACNA1G_uc002isa.1_Silent_p.I1900I|CACNA1G_uc002isd.1_Silent_p.I1909I|CACNA1G_uc002isb.1_Silent_p.I1941I|CACNA1G_uc002isc.1_Silent_p.I2016I|CACNA1G_uc002ise.1_Silent_p.I1937I|CACNA1G_uc002isf.1_Silent_p.I1964I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2114					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGGCACCATCCCCAAACTGC	0.642000														17			5		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140074636	140074636	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140074636G>A	uc004clr.1	-	9	1960	c.1887C>T	c.(1885-1887)ctC>ctT	p.L629L	ANAPC2_uc004clq.1_Silent_p.L485L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	629					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|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|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GAGGTACCTTGAGCTGCTCAT	0.632000														26			9		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868229	23868229	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23868229G>A	uc001wjv.3	-	14	1670	c.1599C>T	c.(1597-1599)tcC>tcT	p.S533S		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	533	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCCAGGATGGACATGATGC	0.552000														101			4		0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199694	4199694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:4199694C>T	uc003ghp.1	-	4	897	c.867G>A	c.(865-867)tgG>tgA	p.W289*		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	289					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGATGTTCTTCCACAGGACGT	0.562000														101			4		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863071	5863071	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5863071G>A	uc010qzq.2	-	0	57	c.57C>T	c.(55-57)atC>atT	p.I19I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCCCTGGGATACCCAGCA	0.418000														67			7		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88211797	88211797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:88211797G>A	uc001kdn.3	-	15	3161	c.3152C>T	c.(3151-3153)tCc>tTc	p.S1051F	WAPAL_uc009xsv.3_Intron|WAPAL_uc001kdo.3_Missense_Mutation_p.S1014F|WAPAL_uc009xsw.3_Missense_Mutation_p.S1008F	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	1014	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ACTACAGATGGAAGAATCAAA	0.428000														99			9		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988929	66988929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:66988929C>T	uc003xvs.1	+	3	445	c.154C>T	c.(154-156)Cca>Tca	p.P52S	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	52	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGACAAGAATCCAGATGATCC	0.383000														98			7		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896193	84896193	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:84896193T>C	uc010kbp.3	-	11	1355	c.1258A>G	c.(1258-1260)Aat>Gat	p.N420D	KIAA1009_uc003pkj.4_Missense_Mutation_p.N344D|KIAA1009_uc003pkk.2_Missense_Mutation_p.N420D|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	420					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATACTCTCATTTGTGGTCTTT	0.333000														186			17		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991320	47991320	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:47991320C>T	uc002xur.1	-	1	943	c.777G>A	c.(775-777)aaG>aaA	p.K259K	KCNB1_uc002xus.1_Silent_p.K259K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	259					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAGTGGGCCCTTGAAGAACT	0.542000														77			6		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787121	121787121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:121787121C>T	uc003ksw.1	+	9	2785	c.2579C>T	c.(2578-2580)cCt>cTt	p.P860L	SNCAIP_uc011cwl.1_Missense_Mutation_p.P418L|SNCAIP_uc003ksy.1_Missense_Mutation_p.P494L|SNCAIP_uc003ksx.1_Missense_Mutation_p.P907L|SNCAIP_uc003ksz.1_Missense_Mutation_p.P494L|SNCAIP_uc010jcu.2_Missense_Mutation_p.P456L|SNCAIP_uc011cwm.1_Missense_Mutation_p.P494L|SNCAIP_uc003kta.1_Missense_Mutation_p.P492L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P554L|SNCAIP_uc010jcx.1_Missense_Mutation_p.P800L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P376L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	860					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGAAAAGGCCTTTTGGAGCC	0.468000														83			7		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55682056	55682056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55682056C>T	uc010rir.2	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTCCCAGTCCATTCTTCCTT	0.343000														54			5		0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435454	7435454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:7435454G>A	uc011bwj.2	-	0	1247	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	385					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TCCCACTCTGGGGACGGCACG	0.612000														82			8		0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217629	26217629	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:26217629T>C	uc001rgx.3	+	2	528	c.302T>C	c.(301-303)tTa>tCa	p.L101S	RASSF8_uc001rgy.3_Missense_Mutation_p.L101S|RASSF8_uc001rgz.3_Missense_Mutation_p.L101S|RASSF8_uc009zjd.2_Missense_Mutation_p.L101S|RASSF8_uc009zje.2_Missense_Mutation_p.L101S	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	101					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					GAAAGAACTTTATACAGGCAG	0.478000														99			11		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	T	T	rs150656642		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:21221024C>T	uc010bwn.1	-	3	457	c.375G>A	c.(373-375)ccG>ccA	p.P125P	ZP2_uc002dii.2_Silent_p.P86P|ZP2_uc010bwo.3_Silent_p.P125P	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	86					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498000														82			11		0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153670591	153670591	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:153670591C>T	uc004fli.4	+	8	1467	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	GDI1_uc004flj.3_Silent_p.P40P|FAM50A_uc004fll.4_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	375					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTTGGAGCCCATTGACCAGA	0.627000														76			12		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67108540	67108540	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:67108540A>G	uc001dcr.3	+	5	493	c.276A>G	c.(274-276)gaA>gaG	p.E92E		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	92					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACCCGAGGAACCCGGCTATA	0.333000														33			5		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40107251	40107251	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40107251C>T	uc002hyj.4	+	8	1253	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	413						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGAGAGACTTCGAGTCAGCCG	0.542000														25			4		0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986153	42986153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42986153C>T	uc003otl.3	+	5	897	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	KLHDC3_uc003otn.3_Missense_Mutation_p.R82C|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Missense_Mutation_p.R183C|KLHDC3_uc003oto.3_Missense_Mutation_p.R139C	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	198					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTTGGGGGCCGTGCCGACCG	0.577000														55			4		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865355	57865355	+	Silent	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:57865355A>C	uc001snx.3	+	11	2926	c.2832A>C	c.(2830-2832)ccA>ccC	p.P944P	GLI1_uc021qzi.1_Silent_p.P903P|GLI1_uc009zpq.3_Silent_p.P816P	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	944					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAAAGCTCCAGTGAACACAT	0.562000														83			15		0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35289167	35289167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:35289167G>A	uc003okk.3	+	10	1915	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	DEF6_uc010jvs.3_Missense_Mutation_p.D601N|DEF6_uc010jvt.3_Missense_Mutation_p.D371N	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	626						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGATAAACTGGATCCAGCACC	0.572000														68			7		0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37373332	37373332	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:37373332C>G	uc002hrs.3	-	2	777	c.492G>C	c.(490-492)aaG>aaC	p.K164N	STAC2_uc010cvt.3_Missense_Mutation_p.K22N	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	164					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CGCTCACCGTCTTGCCTGGGC	0.577000														70			7		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633325	49633325	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:49633325G>T	uc002pmr.3	+	6	989	c.657_splice	c.e6+1	p.Q219_splice	PPFIA3_uc010yai.2_Splice_Site|PPFIA3_uc010emt.3_Splice_Site_p.Q143_splice|PPFIA3_uc010yaj.1_Splice_Site|PPFIA3_uc002pms.3_Splice_Site_p.Q87_splice	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	219						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGATGGGCAGGTGAGACATGG	0.547000														75			10		0.00244969	0.00245906	1	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18066902	18066902	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:18066902G>A	uc003stz.3	-	0	585	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	168					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CATCTGGCGAGACAATAATGC	0.448000														59			5		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16675184	16675184	+	Missense_Mutation	SNP	G	A	A	rs142031622	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:16675184G>A	uc003jft.4	-	34	5210	c.4742C>T	c.(4741-4743)tCc>tTc	p.S1581F	MYO10_uc011cnb.2_Missense_Mutation_p.S210F|MYO10_uc011cnc.2_Missense_Mutation_p.S460F|MYO10_uc011cnd.2_Missense_Mutation_p.S938F|MYO10_uc011cne.2_Missense_Mutation_p.S938F|MYO10_uc010itx.3_Missense_Mutation_p.S1203F	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1581	MyTH4.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTCAGACATGGACTCCAGTTG	0.502000														44			3		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16720940	16720940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:16720940G>A	uc004cxk.3	-	1	830	c.86C>T	c.(85-87)tCa>tTa	p.S29L	CTPS2_uc004cxl.3_Missense_Mutation_p.S29L|CTPS2_uc004cxm.3_Missense_Mutation_p.S29L	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	29					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GAGTCCACATGATTTTAGAAT	0.458000														77			21		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22192421	22192421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22192421C>T	uc021rpa.1	+	1	324	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		CCTCCAGTTCCTTCTGAAATA	0.448000														70			10		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160269009	160269009	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:160269009G>A	uc002uao.3	-	13	2919	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	BAZ2B_uc002uap.3_Silent_p.I802I|BAZ2B_uc002uaq.1_Silent_p.I668I|BAZ2B_uc002uar.1_Silent_p.I411I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	838	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATTGCCCTGATACGAGGAA	0.398000														49			5		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954658	33954658	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:33954658T>A	uc001zhi.3	+	34	4997	c.4927T>A	c.(4927-4929)Ttc>Atc	p.F1643I	RYR3_uc010bar.3_Missense_Mutation_p.F1643I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1643	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATCCGCCTCTTCCCGGACGA	0.572000														38			4		0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27332849	27332849	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:27332849C>T	uc010ofj.2	-	1	1036	c.864G>A	c.(862-864)cgG>cgA	p.R288R	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	288										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGGAAGCCCCGCACCAGGA	0.687000														30			8		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404775	10404775	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:10404775C>T	uc002gmo.3	-	26	3484	c.3390G>A	c.(3388-3390)cgG>cgA	p.R1130R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1130						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1130W(1)|p.R1130P(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCGGGAGGCCCGCTCTGCCT	0.572000														71			4		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651402	1651402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1651402C>T	uc001lty.3	+	0	370	c.332C>T	c.(331-333)tCc>tTc	p.S111F	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	111	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGTGGCTCCTGTGGGGGG	0.697000														141			10		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050905	72050905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:72050905C>T	uc001swo.2	-	1	1134	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	ZFC3H1_uc010sts.2_Missense_Mutation_p.E259K|ZFC3H1_uc001swp.3_Missense_Mutation_p.E259K	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	259					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTAGGATCTTCCTGCACATTC	0.348000														56			7		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100888950	100888950	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:100888950A>T	uc004aym.3	-	10	1443	c.1327T>A	c.(1327-1329)Tcc>Acc	p.S443T	CORO2A_uc004ayl.3_Missense_Mutation_p.S443T|CORO2A_uc004ayk.3_Missense_Mutation_p.S90T	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	443					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.S442F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCCAACAGGGAGGAAGACCTC	0.552000														202			41		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44142400	44142400	+	Missense_Mutation	SNP	C	T	T	rs145814117	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:44142400C>T	uc001rns.4	-	2	1003	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	PUS7L_uc001rnq.4_Missense_Mutation_p.R308Q|PUS7L_uc001rnr.4_Missense_Mutation_p.R308Q|PUS7L_uc009zkb.3_5'UTR	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	308					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTCCTTTCGTAGGGTAAA	0.318000														23			3		0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36983535	36983535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:36983535G>A	uc003aps.2	-	1	341	c.272C>T	c.(271-273)gCt>gTt	p.A91V		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	91					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 complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCTGTGTCAGCTTCGTAATC	0.483000														214			19		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668687	8668687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8668687C>T	uc002mkj.1	-	4	791	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	173					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCCACTTTCCTCCGGGCTC	0.602000														65			4		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067681	190067681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:190067681C>T	uc001gse.1	-	7	2000	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	FAM5C_uc010pot.1_Missense_Mutation_p.E488K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	590						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGCTGTTTTCATTCACAGGC	0.458000														275			10		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3571950	3571950	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:3571950C>A	uc002wim.2	+	18	3409	c.3319C>A	c.(3319-3321)Cag>Aag	p.Q1107K	ATRN_uc002wil.2_Missense_Mutation_p.Q1107K|ATRN_uc021vzz.1_Missense_Mutation_p.Q991K	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	1107	Laminin EGF-like 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGGAAATGTCAGCGTAAGTC	0.463000														144			16		9.7654e-05	9.82781e-05	1	1	0
CDH13	1012	broad.mit.edu	37	16	83711990	83711990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:83711990G>A	uc010vns.2	+	10	1867	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	CDH13_uc002fgx.3_Missense_Mutation_p.E488K|CDH13_uc010vnt.2_Missense_Mutation_p.E234K|CDH13_uc010vnu.2_Missense_Mutation_p.E449K	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	488	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GACCAGGCAGGAGGACCTCTC	0.622000														82			6		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155743	111155743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:111155743C>T	uc004epl.1	-	2	1595	c.676G>A	c.(676-678)Gag>Aag	p.E226K	TRPC5_uc004epm.1_Missense_Mutation_p.E226K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	226					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCTTGAGCTCCCAGCCCAGA	0.552000														140			29		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093092	143093092	+	Silent	SNP	G	A	A	rs35448483		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:143093092G>A	uc003qjd.3	-	4	3527	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGGGGAGCTGGGAAAGGGTCT	0.547000														55			4		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536811	146536811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:146536811G>A	uc003weu.2	+	2	733	c.217G>A	c.(217-219)Gga>Aga	p.G73R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	73	F5/8 type C.				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)			AGGTGCTGGGGGATGGTCTCC	0.428000										HNSCC(39;0.1)				91			8		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022237	7022237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7022237C>T	uc009yfh.1	-	2	976	c.677G>A	c.(676-678)gGa>gAa	p.G226E	ZNF214_uc001mfa.2_Missense_Mutation_p.G226E|ZNF214_uc010ray.1_Missense_Mutation_p.G226E	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ATAATAAATTCCTTTACATTT	0.408000														60			5		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288855	107288855	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107288855G>A	uc011lvn.2	-	0	636	c.636C>T	c.(634-636)ctC>ctT	p.L212L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAAAATCACGAGCAGAGGAA	0.418000														63			10		0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120430338	120430338	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:120430338C>T	uc003yoq.2	+	2	572	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	117	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTCATCTACCGCAGTGGAG	0.493000														75			7		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724778	71724778	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:71724778G>A	uc001orl.1	-	14	3943	c.3771C>T	c.(3769-3771)gcC>gcT	p.A1257A	NUMA1_uc009ysw.1_Silent_p.A820A|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.A1257A|NUMA1_uc001orn.2_Silent_p.A820A|NUMA1_uc009ysx.1_Silent_p.A1257A|NUMA1_uc001oro.1_Silent_p.A1257A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1257					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTCTGACTCGGCCATCACCA	0.607000			T	RARA	APL									112			8		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395297	154395297	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:154395297G>A	uc010jih.1	+	0	2038	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	626					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAACTAAAGGAATCCACAG	0.458000														125			6		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447627	82447627	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:82447627C>T	uc001dit.4	+	17	3379	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F1066F|LPHN2_uc001div.3_Silent_p.F1066F|LPHN2_uc009wcd.3_Silent_p.F1066F|LPHN2_uc001diw.3_Silent_p.F650F|LPHN2_uc009wce.1_Silent_p.F167F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1079					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGGGAGTGTTCATTTTCATCT	0.358000														44			4		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320976	46320976	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:46320976C>T	uc001rox.3	-	10	2795	c.2508G>A	c.(2506-2508)aaG>aaA	p.K836K	SCAF11_uc001row.3_Silent_p.K521K|SCAF11_uc001roy.1_Silent_p.K910K	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	836					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGACTCATTCTTAGGAGATG	0.483000														89			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074907	9074907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9074907C>T	uc002mkp.3	-	2	12743	c.12539G>A	c.(12538-12540)gGg>gAg	p.G4180E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4182	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						GGGACTGTGCCCTTGTGATGT	0.522000														46			7		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1559773	1559773	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:1559773G>A	uc002fte.3	-	35	5820	c.5706C>T	c.(5704-5706)ttC>ttT	p.F1902F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1902	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.F1902F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAGATCCCCGAATTTTTCCA	0.478000														110			10		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635594	7635594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7635594G>A	uc001qsz.3	-	12	3223	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	CD163_uc001qta.3_Missense_Mutation_p.S1032L|CD163_uc009zfw.2_Missense_Mutation_p.S1065L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1032					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						TTTCTGCACTGAAATATCTGT	0.358000														80			5		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114182125	114182125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114182125G>A	uc001kzu.3	+	16	1799	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N	ACSL5_uc001kzs.3_Missense_Mutation_p.D507N|ACSL5_uc001kzt.3_Missense_Mutation_p.D507N|ACSL5_uc009xxz.3_Missense_Mutation_p.D507N|ACSL5_uc010qrj.2_Missense_Mutation_p.D289N	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	507					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATACCTGAAGGACCCTGAGAA	0.542000														76			7		0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120461386	120461386	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120461386T>C	uc003edx.3	-	1	1	c.-29_splice	c.e1-1		GTF2E1_uc003edz.4_5'Flank	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.						small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTAACGCCTGTTCCTGGATTG	0.547000														37			5		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137058	126137058	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:126137058C>T	uc001uhe.1	+	7	1979	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	TMEM132B_uc001uhf.1_Silent_p.I169I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	657						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGTCACCATCGCGGAGCTGG	0.587000														81			6		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061159	15061159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15061159C>T	uc002naa.1	-	8	1550	c.1543G>A	c.(1543-1545)Gga>Aga	p.G515R	SLC1A6_uc010dzu.1_Missense_Mutation_p.G437R|SLC1A6_uc010xod.1_Missense_Mutation_p.G451R	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	515					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACGGCCGCTCCAATTGAGTCC	0.562000														90			9		0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125565887	125565887	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:125565887A>T	uc003yrl.2	-	14	2160	c.1626T>A	c.(1624-1626)gaT>gaA	p.D542E	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.D187E|MTSS1_uc011lin.1_Missense_Mutation_p.D312E|MTSS1_uc011lio.1_Missense_Mutation_p.D428E|MTSS1_uc003yri.2_Missense_Mutation_p.D256E|MTSS1_uc003yrj.2_Missense_Mutation_p.D513E|MTSS1_uc003yrk.2_Missense_Mutation_p.D538E	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	538					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTCCTGCTGATCTGCCTCCT	0.458000														83			5		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36588231	36588231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:36588231C>T	uc022abu.1	-	14	1521	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	AOAH_uc003tfh.4_Missense_Mutation_p.D374N|AOAH_uc011kba.2_Missense_Mutation_p.D342N	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	374					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CTGCAGACATCATTTCCAATC	0.438000														112			8		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427361	119427361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:119427361C>T	uc001ehl.1	-	7	1800	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	TBX15_uc009whj.1_Missense_Mutation_p.M319I	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	601						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCCTTTAAACCATGTGCACGG	0.532000														109			11		0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089818	31089818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:31089818C>T	uc004dcl.1	-	0	353	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	85	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TTCCTGATATCGTGAAGGCAG	0.597000														55			11		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723828	58723828	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58723828C>T	uc002qrq.1	+	8	1737	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S	ZNF274_uc002qrr.1_Silent_p.S394S|ZNF274_uc002qrs.1_Silent_p.S321S|ZNF274_uc010eum.1_Silent_p.S186S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	427					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S426N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACCCTGAGTCCCAGGCAAACA	0.458000														90			4		0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662690	5662690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:5662690G>A	uc003sox.2	-	16	2832	c.2573C>T	c.(2572-2574)gCc>gTc	p.A858V	RNF216_uc010ksz.2_Missense_Mutation_p.A423V|RNF216_uc010kta.2_Missense_Mutation_p.A423V|RNF216_uc003soy.2_Missense_Mutation_p.A801V|RNF216_uc011jwj.2_Missense_Mutation_p.A423V	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	801	Pro-rich.				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)		GTGCGCGAAGGCATAGGGTGG	0.667000														126			12		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55735698C>T	uc010rit.2	-	0	242	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G81E(2)		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)					AGAAATATTTCCTTTCTGAGT	0.383000														80			9		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40094894	40094894	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40094894A>G	uc002hyj.4	+	5	799	c.710A>G	c.(709-711)aAc>aGc	p.N237S	TTC25_uc021txp.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	237						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ACTCACAGCAACTTCTGGAGG	0.587000														185			10		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113322065	113322065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113322065C>T	uc002thw.2	+	9	2315	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	POLR1B_uc010fkn.2_Missense_Mutation_p.R523C|POLR1B_uc002thx.2_Missense_Mutation_p.R440C|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Missense_Mutation_p.R18C|POLR1B_uc002thy.2_Missense_Mutation_p.R440C|POLR1B_uc010yxo.1_Missense_Mutation_p.R356C	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	579					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.R579H(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGATTCTCTTCGTCATTTTAA	0.507000														142			18		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56759717	56759717	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:56759717G>A	uc003hbe.1	+	15	1883	c.1725_splice	c.e15-1	p.E575_splice	EXOC1_uc003hbf.1_Splice_Site_p.E575_splice|EXOC1_uc003hbg.1_Splice_Site_p.E560_splice	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	575					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTCTGAACAGGAAAGATATG	0.348000														47			6		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907981	12907981	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12907981G>A	uc010obf.2	-	1	388	c.162C>T	c.(160-162)ttC>ttT	p.F54F	LOC649330_uc009vno.2_Silent_p.F54F	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	54							nucleic acid binding|nucleotide binding										CATATTGAACGAAGGCAAAGC	0.473000														187			9		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137139	40137139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:40137139C>T	uc021qgf.1	-	0	704	c.704G>A	c.(703-705)aGg>aAg	p.R235K	LRRC4C_uc001mxc.1_Missense_Mutation_p.R231K|LRRC4C_uc001mxd.1_Missense_Mutation_p.R231K|LRRC4C_uc001mxa.1_Missense_Mutation_p.R235K|LRRC4C_uc001mxb.1_Missense_Mutation_p.R231K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	235					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGAGCCAGGCCTGATGGCAGA	0.458000														66			6		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69400280	69400280	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:69400280C>T	uc010lyz.3	+	4	1050	c.759C>T	c.(757-759)ctC>ctT	p.L253L	C8orf34_uc010lyy.2_Silent_p.L253L|C8orf34_uc003xyb.3_Silent_p.L142L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	167					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATGAACTCGATAAGGTAA	0.274000														30			4		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082536	152082537	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152082536_152082537CC>TA	uc009wne.1	-	2	3428_3429	c.3156_3157GG>TA	c.(3154-3159)gaggaa>gaTAaa	p.1052_1053EE>DK	TCHH_uc001ezp.2_Missense_Mutation_p.1052_1053EE>DK	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1052	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			agctcctcttcctccCGATATT	0.574000														182			8		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377445	86377445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:86377445C>T	uc010sum.2	-	4	382	c.223G>A	c.(223-225)Gga>Aga	p.G75R	MGAT4C_uc001tal.4_Missense_Mutation_p.G51R|MGAT4C_uc001taj.4_Missense_Mutation_p.G51R|MGAT4C_uc001tak.4_Missense_Mutation_p.G51R|MGAT4C_uc001tai.4_Missense_Mutation_p.G51R|MGAT4C_uc001tah.4_Missense_Mutation_p.G51R	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	51					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTTTGTCTCCTTCCTAAATA	0.303000														85			5		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183364	197183364	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:197183364G>A	uc002utm.1	-	8	2433	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A	HECW2_uc002utl.1_Silent_p.A394A	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	750	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.A750A(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGGGCTCTCGGCAGCAGCTG	0.657000														55			8		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054212	29054212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:29054212G>A	uc002kws.3	+	14	2339	c.2230G>A	c.(2230-2232)Gga>Aga	p.G744R	DSG3_uc002kwt.3_Missense_Mutation_p.G26R	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	744					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)			GACAGTGTCAGGAGCTGCTTC	0.537000														61			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47433000	47433000	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47433000C>T	uc002leb.2	-	19	2491	c.2203_splice	c.e19-1	p.D735_splice		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	735	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)		TTGTCGGGGTCCTTTACAAGG	0.567000														61			10		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100229709	100229709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100229709C>T	uc003uvv.1	-	6	1031	c.962G>A	c.(961-963)gGa>gAa	p.G321E	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.G150E	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	321					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCACATGTCCATACACTGC	0.582000														120			11		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685746	125685746	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:125685746C>T	uc022cds.1	-	0	846	c.846G>A	c.(844-846)ttG>ttA	p.L282L	DCAF12L1_uc004eul.3_Silent_p.L282L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	282								p.S281F(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGTAGCCGTCCAAGGACACCG	0.622000														32			8		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25747261	25747261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:25747261G>A	uc001bkf.3	-	0	103	c.17C>T	c.(16-18)cCg>cTg	p.P6L	RHCE_uc001bkg.3_Missense_Mutation_p.P6L|RHCE_uc001bkh.3_Missense_Mutation_p.P6L|RHCE_uc001bki.3_Missense_Mutation_p.P6L|RHCE_uc001bkj.3_Intron	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	6						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGACCGCGGGTACTTAGA	0.572000														26			5		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307342	37307342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:37307342C>T	uc001caz.2	-	9	1660	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	GRIK3_uc001cba.1_Missense_Mutation_p.D509N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	509					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I508I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTTACGTGGTCGATGAGCTCC	0.592000														112			18		0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761094	241761094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:241761094G>A	uc001hza.3	-	2	1044	c.899C>T	c.(898-900)tCg>tTg	p.S300L	OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	300					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	p.S300S(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACAGTGTTCGATTTAGCAAA	0.393000														74			7		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158882728	158882728	+	Silent	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158882728G>T	uc003qrf.3	+	5	2350	c.993G>T	c.(991-993)ggG>ggT	p.G331G	TULP4_uc011efo.2_Silent_p.G331G|TULP4_uc003qrg.3_Silent_p.G331G	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	331					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R330L(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ATGTTCGTGGGGAGCACATCT	0.473000														101			11		2.80697e-09	2.83579e-09	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16907245	16907245	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16907245A>T	uc009vos.1	-	15	2474	c.1586T>A	c.(1585-1587)cTc>cAc	p.L529H	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.L258H	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	529	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCTACCTGGGAGAATGTTTAC	0.423000														705			24		0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550168	31550168	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31550168C>T	uc003nuk.3	-	0	35	c.27G>A	c.(25-27)agG>agA	p.R9R	LTB_uc003nul.3_Silent_p.R9R	NM_002341	NP_002332	Q06643	TNFC_HUMAN	Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA.	9					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	GCCTCCCACCCCTGCCCTCCA	0.652000														53			5		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891306	11891306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:11891306C>T	uc010dyj.3	+	3	861	c.667C>T	c.(667-669)Cca>Tca	p.P223S	ZNF441_uc002msn.4_Missense_Mutation_p.P179S	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAAGAGAAACCATATGAATA	0.393000														49			3		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364134	23364134	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23364134C>T	uc002dln.3	+	2	500	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	108					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATTCCAAAATCAAGCATTTGC	0.502000														114			11		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89850978	89850978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:89850978G>A	uc001dnf.2	+	10	2126	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S	GBP6_uc010ost.1_Missense_Mutation_p.G488S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	618							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AATTGGTCATGGTGTCAAAGG	0.378000														80			13		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40421187	40421187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:40421187G>A	uc002omp.4	-	4	2742	c.2734C>T	c.(2734-2736)Cgg>Tgg	p.R912W		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	912	VWFD 2.					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)			TGGCTGCCCCGATGCTCGTTT	0.692000														22			3		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034440	82034440	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:82034440C>T	uc002fgu.3	-	1	152	c.24G>A	c.(22-24)aaG>aaA	p.K8K		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	8					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GGACACTTTCCTTTTGAGATC	0.378000														68			10		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873536	2873536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2873536G>A	uc002lwp.1	+	1	133	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF556_uc002lwq.3_Missense_Mutation_p.E16K	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TTTCACGCTGGAGGAGTGGGC	0.483000														102			14		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4407228	4407228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:4407228G>A	uc002cwf.3	-	25	3069	c.2626C>T	c.(2626-2628)Cgg>Tgg	p.R876W	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.R656W|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.R876W|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.R858W|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.R791W	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GATGGGGCCCGACGAGCAGGG	0.612000														55			6		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319695	21319695	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:21319695G>A	uc021tss.1	+	2	1411	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	KCNJ18_uc002gyv.1_Silent_p.K347K|KCNJ18_uc021tst.1_Silent_p.K347K	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	347						integral to membrane	inward rectifier potassium channel activity										ACTTCCACAAGACCTATGAGG	0.567000														206			9		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918643	43918644	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:43918643_43918644GG>AA	uc003tiw.3	-	5	475_476	c.418_419CC>TT	c.(418-420)cca>TTa	p.P140L	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P97L|URGCP_uc003tiv.3_Missense_Mutation_p.P65L|URGCP_uc003tix.3_Missense_Mutation_p.P131L|URGCP_uc003tiy.3_Missense_Mutation_p.P97L|URGCP_uc003tiz.3_Missense_Mutation_p.P97L|URGCP_uc011kbj.2_Missense_Mutation_p.P97L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	140					cell cycle	centrosome|nucleus	GTP binding	p.P140>?(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTGGCGTCTGGGAGCACGTCC	0.550000														130			16		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444500	138444500	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138444500C>T	uc003vuf.3	-	6	874	c.636G>A	c.(634-636)gtG>gtA	p.V212V	ATP6V0A4_uc003vug.3_Silent_p.V212V|ATP6V0A4_uc003vuh.3_Silent_p.V212V	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	212					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTCCCACCGTCACAGGATCCT	0.527000														61			5		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	438196	438196	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:438196C>T	uc001qif.1	-	14	2137	c.1774_splice	c.e14-1	p.L592_splice	KDM5A_uc010sdn.1_Splice_Site_p.L551_splice|KDM5A_uc010sdo.1_Splice_Site_p.L211_splice	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	592	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAATGGGCAACTGAAAATGAG	0.423000			T	NUP98	AML									35			5		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344791	50344791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:50344791G>A	uc001rvn.3	+	0	268	c.178G>A	c.(178-180)Ggc>Agc	p.G60S		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	60					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACAGGCTCTGGGCCACATAAG	0.647000														89			8		0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6760488	6760488	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6760488A>G	uc001qpw.4	-	7	751	c.710_splice	c.e7+1	p.W237_splice	ING4_uc001qpy.4_Splice_Site_p.W233_splice|ING4_uc001qpx.4_Splice_Site_p.W234_splice|ING4_uc009zes.3_Splice_Site|ING4_uc009zet.3_Splice_Site_p.W213_splice|ING4_uc009zeu.3_Splice_Site|ING4_uc009zev.3_Splice_Site|ING4_uc001qpv.4_Splice_Site_p.W236_splice	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA.	237					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CCTGCCACTTACCATTTCCCC	0.522000														92			13		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677814	25677814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:25677814C>T	uc003grr.3	+	12	1597	c.1516C>T	c.(1516-1518)Ccg>Tcg	p.P506S	SLC34A2_uc003grs.3_Missense_Mutation_p.P505S|SLC34A2_uc010iev.3_Missense_Mutation_p.P505S	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	506					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTACCCGATCCCGTTCACTCG	0.562000			T	ROS1	NSCLC									115			6		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56936405	56936405	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:56936405G>A	uc002ekd.4	+	23	2897	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	SLC12A3_uc010ccm.3_Silent_p.T947T|SLC12A3_uc010ccn.3_Silent_p.T955T	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	947					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.T956T(2)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGGAGATTACGAAGAACAGAG	0.582000														93			7		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75899009	75899009	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:75899009C>T	uc021zbv.1	-	5	782	c.747G>A	c.(745-747)acG>acA	p.T249T	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.T249T|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	249	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.T249R(1)		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						ATTTTCCATCCGTAATAATAA	0.383000														65			8		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048914	143048914	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143048914C>T	uc003wcr.1	+	22	2910	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	CLCN1_uc011ktc.1_Silent_p.S553S	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	941					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCCTCTCTCCCTGGCCCCAG	0.662000														57			4		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980768	121980768	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:121980768A>C	uc003eew.4	+	3	1324	c.886A>C	c.(886-888)Agc>Cgc	p.S296R	CASR_uc003eev.4_Missense_Mutation_p.S296R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	296					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.A295S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGGCTGGCCAGCGAGGCCTG	0.602000														80			6		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579585	7579585	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:7579585G>A	uc003mxp.1	+	22	3441	c.3162G>A	c.(3160-3162)aaG>aaA	p.K1054K	DSP_uc003mxq.1_Silent_p.K1054K|DSP_uc021yle.1_Silent_p.K1054K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1054	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTGTAATAAGAACAAATTCC	0.473000														58			8		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54847642	54847642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54847642C>T	uc021smr.1	+	26	5884	c.5884C>T	c.(5884-5886)Cga>Tga	p.R1962*	UNC13C_uc021sms.1_Nonsense_Mutation_p.R1964*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1964	MHD2.				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)		GCACATGATTCGAGAGGATGC	0.403000														35			4		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347381	91347381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:91347381C>T	uc001tbj.3	-	0	1573	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	380										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						AAAAGTGCAGCTTATAAAGTT	0.433000														106			8		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	430694	430694	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:430694G>A	uc002loq.4	-	8	1164	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	388	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTACCGGTGGACCCCACGT	0.627000														28			3		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368006	72368006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72368006G>A	uc021ucp.1	+	3	656	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GPR142_uc010wqy.2_Missense_Mutation_p.G219E	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	219						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.F215L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTCCTGCAGGGAGCAGTGCTG	0.632000														48			6		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803326	27803326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:27803326G>A	uc002rkz.4	+	0	3938	c.3887G>A	c.(3886-3888)cGa>cAa	p.R1296Q	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1296										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACCAAGCGACTTAGAAAA	0.408000														77			4		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207737283	207737283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:207737283G>A	uc001hfy.3	+	13	2451	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.E1221K|CR1_uc021pij.1_Missense_Mutation_p.E771K|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	771	Sushi 12.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			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						ACCCGGGCAGGAAGTGTTCTA	0.582000														107			7		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277286	152277286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152277286C>T	uc001ezu.1	-	2	10112	c.10076G>A	c.(10075-10077)gGa>gAa	p.G3359E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3359	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGCCTGTCCATGGCCTGA	0.582000									Ichthyosis					677			28		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216405	20216405	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20216405C>T	uc010tkt.2	+	0	819	c.819C>T	c.(817-819)tcC>tcT	p.S273S		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATATTCTCCTTGTTTTACA	0.433000														64			6		0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73198740	73198740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:73198740C>T	uc002siq.3	-	10	831	c.700G>A	c.(700-702)Gat>Aat	p.D234N	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Missense_Mutation_p.D126N|SFXN5_uc010yrc.2_Missense_Mutation_p.D83N|SFXN5_uc010fet.3_Intron|SFXN5_uc010fer.3_Non-coding_Transcript|SFXN5_uc010feq.3_Missense_Mutation_p.D16N|SFXN5_uc010fes.3_Missense_Mutation_p.D16N	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	234					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AGGTTGCCATCGCTGTCCAGG	0.617000														77			8		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288265	132288265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:132288265G>A	uc002tta.3	+	2	461	c.409G>A	c.(409-411)Gag>Aag	p.E137K	CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.E137K|CCDC74A_uc021vpr.1_Missense_Mutation_p.E179K	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	137								p.E137E(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGCTGAAGGAGGGCTCCTC	0.662000														113			8		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65175614	65175614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:65175614C>T	uc003hcv.3	-	5	696	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	TECRL_uc003hcw.3_Missense_Mutation_p.R196Q	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	196					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.R196P(2)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAAGGTATCGGATGTAGTG	0.343000														96			7		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6443401	6443402	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6443401_6443402CC>TT	uc001qnu.3	-	1	351_352	c.48_49GG>AA	c.(46-51)ctggag>ctAAag	p.E17K	TNFRSF1A_uc001qnt.3_5'UTR|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Intron|TNFRSF1A_uc009zek.3_Missense_Mutation_p.E17K|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.E17K	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	17					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	p.L16P(1)|p.L16L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ACCAACAGCTCCAGGAGCACCT	0.515000														64			6		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250192	177250192	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:177250192G>A	uc001glf.3	+	7	2192	c.1880G>A	c.(1879-1881)tGg>tAg	p.W627*	FAM5B_uc001glg.3_Nonsense_Mutation_p.W522*	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	627						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCCAAAACTGGACTATCACC	0.522000														70			6		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754588	141754588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141754588C>T	uc003vwy.3	+	26	3248	c.3194C>T	c.(3193-3195)cCa>cTa	p.P1065L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1065					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)	TATGAAGTTCCAGTCCCTCTG	0.443000														205			19		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540336	55540336	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:55540336C>T	uc003xsd.1	+	3	4042	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1298					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)			AGGCTTGTTTCCTAGGAGAGG	0.413000														141			18		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991054	39991054	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:39991054A>G	uc002xjy.1	-	3	1379	c.1155T>C	c.(1153-1155)tgT>tgC	p.C385C		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	385						proteinaceous extracellular matrix		p.C384Y(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTAGTTGCCCACAGCAGCTGC	0.682000														31			5		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52854944	52854944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:52854944G>A	uc001ctt.3	-	6	1363	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	ORC1_uc010oni.2_Missense_Mutation_p.R378C|ORC1_uc001ctu.3_Missense_Mutation_p.R378C	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	378					DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCGGATACGATGGGGAGTA	0.498000														123			15		0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74177718	74177718	+	Silent	SNP	C	T	T	rs139533561		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74177718C>T	uc002sjx.3	+	3	535	c.450C>T	c.(448-450)atC>atT	p.I150I	DGUOK_uc002sjy.3_Intron|DGUOK_uc002sjz.3_Intron	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	150					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CCAGGTATATCTTTGCAAAGA	0.463000														282			18		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682496	65682496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65682496G>A	uc002aou.1	-	12	2615	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I	IGDCC4_uc002aot.1_Missense_Mutation_p.T390I	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	802	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCCCACCTGGTGTAATAGGT	0.547000														110			13		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134474154	134474154	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:134474154G>A	uc003yuk.2	-	8	1642	c.813C>T	c.(811-813)atC>atT	p.I271I	ST3GAL1_uc003yum.2_Silent_p.I271I	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	271					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TGACCGAGAGGATGCCGGTAG	0.572000														215			18		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365968	47365968	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:47365968G>A	uc001cqo.1	-	0		c.180C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GGGGGTGCAGGAAACAGGTGC	0.488000														55			7		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325937	57325937	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57325937G>A	uc002qnu.2	-	6	4224	c.3873C>T	c.(3871-3873)ttC>ttT	p.F1291F	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_Silent_p.F1262F|PEG3_uc002qnv.2_Silent_p.F1291F|PEG3_uc002qnw.2_Silent_p.F1167F|PEG3_uc002qnx.2_Silent_p.F1165F|PEG3_uc010etr.2_Silent_p.F1291F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1291					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)		CTGGGTTGACGAAAGATTCTC	0.478000														49			9		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387232	10387232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:10387232C>T	uc003bvt.3	-	17	2978	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E802K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E802K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E552K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	847					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.E802K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCTGAGGCCTCCTTGGCCACG	0.587000														71			6		0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48685349	48685349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:48685349G>A	uc002rwm.3	+	3	543	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	PPP1R21_uc002rwi.1_Missense_Mutation_p.E120K|PPP1R21_uc002rwj.3_Missense_Mutation_p.E120K|PPP1R21_uc002rwl.3_Missense_Mutation_p.E74K|PPP1R21_uc002rwk.3_Missense_Mutation_p.E120K|PPP1R21_uc010yok.2_Missense_Mutation_p.E120K	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	120										endometrium(2)|kidney(4)|lung(9)	15						AGAAGAGAATGAACGGTTGCA	0.348000														111			6		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185662	8185662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8185662G>A	uc003wsh.4	-	3	2630	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	877							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAGAGGATCGGAAGAGGAGAA	0.602000														359			27		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457736	45457736	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:45457736C>T	uc001rol.3	-	0		c.1459G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAATGTGTCCCTGTTGGCCTG	0.463000														74			6		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415170	57415170	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57415170G>A	uc021wfl.1	+	0	376	c.9G>A	c.(7-9)cgG>cgA	p.R3R	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.R3R|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	0				C -> Y (in Ref. 8; AAH66923).	G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGATGGATCGGAGGTCCCGGG	0.657000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				76			8		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166701	19166701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:19166701G>A	uc001bba.1	-	5	1913	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	638					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AAGCAGAGGGGAAAGAGGGCC	0.612000														100			10		0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10426588	10426589	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10426588_10426589CC>TT	uc002mny.1	-	0	103_104	c.84_85GG>AA	c.(82-87)gggggc>ggAAgc	p.G29S	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	29					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CCGGAAGTGCCCCCAGGTCTGT	0.673000														43			3		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81941314	81941314	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:81941314A>G	uc002fgt.3	+	15	1670	c.1492A>G	c.(1492-1494)Att>Gtt	p.I498V	PLCG2_uc010chg.1_Missense_Mutation_p.I498V	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	498					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTACTGCGCCATTGCCGATGC	0.557000														85			6		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67782384	67782384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:67782384G>A	uc002aqo.2	+	18	2940	c.2843G>A	c.(2842-2844)aGa>aAa	p.R948K	IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Missense_Mutation_p.R605K|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	948										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CACCTGAAGAGACACAAGTTG	0.343000														174			16		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:36039616C>T	uc003jjz.2	-	4	1170	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_uc011cos.2_Silent_p.V312V|UGT3A2_uc011cot.2_Silent_p.V44V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			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)			CCACAATTTTCACATTTGCAG	0.532000														119			11		0	0	1	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085178	153085178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:153085178G>A	uc001fbi.3	-	1	91	c.32C>T	c.(31-33)cCc>cTc	p.P11L	SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Missense_Mutation_p.P11L	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA.	11					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGGCAGGGCTGCTTGCA	0.567000														198			10		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58011902	58011902	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:58011902T>G	uc002emv.4	+	1	384	c.347T>G	c.(346-348)cTt>cGt	p.L116R	TEPP_uc002emw.4_Missense_Mutation_p.L116R	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	116						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AAGGCCTGCCTTCCTGATGAG	0.627000														55			4		0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94153332	94153332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:94153332G>A	uc009ywj.2	-	19	2415	c.2095C>T	c.(2095-2097)Cct>Tct	p.P699S	MRE11A_uc001peu.2_Missense_Mutation_p.P696S|MRE11A_uc001pev.2_Missense_Mutation_p.P668S			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	696					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTCATAAAAGGATCATCATCA	0.323000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					76			7		0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91094893	91094893	+	Silent	SNP	G	A	A	rs11556994		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:91094893G>A	uc003yel.1	-	0	215	c.33C>T	c.(31-33)atC>atT	p.I11I	CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	11	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTGAGGCTGTGATGAGGGATG	0.527000														200			24		0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431570	36431570	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:36431570T>C	uc002oco.3	+	1	1695	c.1243T>C	c.(1243-1245)Tct>Cct	p.S415P		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	415					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCGCTGCCTCTGCTTCTGC	0.677000														160			8		0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20246838	20246838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:20246838G>A	uc001bct.1	-	3	449	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	131					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|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)		AGCTTGTTGGGATAATGGGCA	0.667000														70			10		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078486	157078486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:157078486C>T	uc003lxb.1	-	0	943	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	SOX30_uc003lxc.1_Missense_Mutation_p.G201S|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	201					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCTTTTGCCTGCCCCGCCT	0.662000														157			16		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21082078	21082078	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:21082078A>G	uc002zsz.4	-	39	4844	c.4583T>C	c.(4582-4584)gTg>gCg	p.V1528A	PI4KA_uc002zsy.4_Missense_Mutation_p.V338A	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1528					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGCTTCAGGCACATCACTAAC	0.512000														108			11		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65496858	65496858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65496858C>T	uc002aon.2	-	5	848	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	223					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGCATGAAGTCCTGGCACATG	0.597000														88			10		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40759030	40759030	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40759030G>A	uc003ayp.4	+	9	1115	c.1056G>A	c.(1054-1056)ttG>ttA	p.L352L	ADSL_uc003ays.4_Silent_p.L352L|ADSL_uc010gyb.1_Non-coding_Transcript	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	352					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATACTATATTGAATACGCTGC	0.398000														255			23		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119568089	119568089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:119568089C>T	uc004bjt.2	-	11	2166	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	ASTN2_uc022bml.1_Missense_Mutation_p.E385K|ASTN2_uc022bmm.1_Missense_Mutation_p.E389K	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	740	EGF-like 2.					integral to membrane		p.E689D(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTTTGTACTCCTCCACGCAA	0.488000														90			23		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030999	49030999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:49030999G>A	uc001zwz.3	-	26	4773	c.4580C>T	c.(4579-4581)tCt>tTt	p.S1527F	CEP152_uc001zwy.3_Missense_Mutation_p.S1471F	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1471					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTTTCATTAGAATCGCGAAA	0.403000														43			6		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717589	139717589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:139717589C>T	uc011kqv.2	+	12	1859	c.1624C>T	c.(1624-1626)Cac>Tac	p.H542Y	TBXAS1_uc003vvh.3_Missense_Mutation_p.H496Y|TBXAS1_uc010lne.3_Missense_Mutation_p.H428Y|TBXAS1_uc003vvi.3_Missense_Mutation_p.H496Y|TBXAS1_uc011kqw.2_Missense_Mutation_p.H476Y|TBXAS1_uc003vvj.3_Intron	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	495					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GACACTGCTCCACGTGCTGCA	0.692000														159			16		0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128582311	128582311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128582311G>A	uc003voh.3	+	1	297	c.176G>A	c.(175-177)gGa>gAa	p.G59E	IRF5_uc010llr.1_Missense_Mutation_p.G59E|IRF5_uc011kot.1_Missense_Mutation_p.G59E|IRF5_uc011kou.1_Missense_Mutation_p.G59E|IRF5_uc010lls.1_Missense_Mutation_p.G59E|IRF5_uc003vog.3_Missense_Mutation_p.G59E|IRF5_uc010llt.3_Missense_Mutation_p.G59E|IRF5_uc003voi.3_Missense_Mutation_p.G59E|IRF5_uc010llu.1_Missense_Mutation_p.G59E|IRF5_uc003vok.2_Missense_Mutation_p.G59E|IRF5_uc003voj.4_Missense_Mutation_p.G59E|IRF5_uc010llv.1_Missense_Mutation_p.G59E|IRF5_uc010llw.1_Missense_Mutation_p.G59E	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	59					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCCAGGACGGAGATAACACC	0.582000														74			4		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882264	52882264	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52882264C>T	uc001sam.3	-	6	1481	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	424	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTTGTTCTTGGCATCCT	0.587000														168			10		0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10687887	10687887	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:10687887A>C	uc002mpd.3	-	8	1124	c.1040T>G	c.(1039-1041)aTt>aGt	p.I347S	AP1M2_uc002mpc.3_Missense_Mutation_p.I345S	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	345	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAAAGACTTAATACTCCAAAT	0.582000														38			3		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196455	24196455	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24196455G>A	uc002dmd.3	+	13	1754	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	PRKCB_uc002dme.3_Silent_p.G519G	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	519	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGCCCTATGGGAAGTCCGTGG	0.438000														113			4		0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	209481	209481	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:209481T>A	uc001lof.3	+	2	532	c.207T>A	c.(205-207)agT>agA	p.S69R	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.S69R|RIC8A_uc001loh.3_Missense_Mutation_p.S62R	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	69						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCTGCAGAGTGTCCGAATCC	0.642000														154			10		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63918323	63918323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:63918323G>A	uc002amp.3	-	70	13284	c.13136C>T	c.(13135-13137)cCt>cTt	p.P4379L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4379					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACTGTGTCAGGCAGGCCCAG	0.527000														30			5		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105922	168105922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:168105922G>A	uc002udx.3	+	8	8109	c.8020G>A	c.(8020-8022)Gaa>Aaa	p.E2674K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2499K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2452K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2499					actin cytoskeleton organization	cell junction	actin binding	p.E2674K(2)|p.C2673C(1)		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						ATCAGCTTGCGAAATTAAACA	0.398000														57			4		0	0	1	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144761	1144761	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:1144761C>T	uc010uuw.1	-	2	436	c.162G>A	c.(160-162)agG>agA	p.R54R		NM_207419	NP_997302	P60827	C1QT8_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA.	54						collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GAGGCAGCCCCCTCCACAGGT	0.677000														60			9		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347208	57347208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:57347208G>A	uc001cyo.2	+	4	687	c.555G>A	c.(553-555)tgG>tgA	p.W185*		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	185	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGGGGAATGGAGGGAGCTTC	0.458000														83			7		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111082947	111082947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:111082947G>A	uc001vqx.3	+	9	930	c.641G>A	c.(640-642)gGg>gAg	p.G214E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	214	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGCTCCAGGGAGACCAGTA	0.567000														125			17		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6086614	6086614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:6086614C>T	uc010idb.1	-	4	1399	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E140K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E305K|JAKMIP1_uc003giu.4_Missense_Mutation_p.E305K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E140K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E305K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E305K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	305	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCTGTCTTCCAGCTTCCGT	0.443000														291			23		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967600	4967600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4967600G>A	uc010qys.2	-	0	731	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S244*(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.473000														59			7		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43590049	43590049	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:43590049G>A	uc003tid.1	+	26	4859	c.4254G>A	c.(4252-4254)acG>acA	p.T1418T	HECW1_uc011kbi.1_Silent_p.T1384T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1418	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACAAGGTCACGGAAAGGGAGT	0.507000														47			5		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18961634	18961634	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:18961634G>A	uc001bay.3	+	2	949	c.351G>A	c.(349-351)aaG>aaA	p.K117K	PAX7_uc001baz.3_Silent_p.K117K|PAX7_uc010oct.2_Silent_p.K117K	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	117	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGAGAAAAAGATTGAGGAGT	0.532000			T	FOXO1A	alveolar rhabdomyosarcoma									128			16		0	0	1	0	0
PSMB2	5690	broad.mit.edu	37	1	36096883	36096883	+	Missense_Mutation	SNP	G	A	A	rs150552802		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:36096883G>A	uc001bzd.2	-	2	689	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	PSMB2_uc021olh.1_5'UTR|PSMB2_uc010ohz.2_Missense_Mutation_p.R68W|PSMB2_uc001bzf.2_Missense_Mutation_p.R93W	NM_002794	NP_002785	P49721	PSB2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 2 (PSMB2), transcript variant 1, mRNA.	93					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	ACCCGACTCCGAAGACAGTCA	0.393000														77			12		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228524724	228524724	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:228524724G>A	uc009xez.1	+	64	16601	c.16557G>A	c.(16555-16557)aaG>aaA	p.K5519K	OBSCN_uc001hsn.3_Silent_p.K5519K|OBSCN_uc001hsr.1_Silent_p.K147K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5519					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCTGCCAAGGAGGCCCTCG	0.607000														17			4		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024487	55024487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:55024487G>A	uc002lgn.3	+	2	1003	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	216					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAGCATCCTGGAAAAATATTA	0.408000														82			10		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135078814	135078815	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:135078814_135078815CC>TT	uc003vsv.2	-	9	1813_1814	c.1482_1483GG>AA	c.(1480-1485)caggca>caAAca	p.A495T	CNOT4_uc011kpy.2_Missense_Mutation_p.A495T|CNOT4_uc011kpz.2_Missense_Mutation_p.A492T|CNOT4_uc003vst.3_Missense_Mutation_p.A495T|CNOT4_uc003vss.3_Missense_Mutation_p.A492T|CNOT4_uc003vsu.2_Missense_Mutation_p.A492T	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	495					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TAGCGGGCTGCCTGGCCTGGAA	0.465000														55			8		0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70954960	70954960	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:70954960T>C	uc001jpe.1	+	6	925	c.870T>C	c.(868-870)atT>atC	p.I290I	SUPV3L1_uc010qjd.1_Silent_p.I159I	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	290	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.V289G(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGCTGTAATTGATGAAATTC	0.363000														38			3		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088736	95088736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95088736G>A	uc001ydp.3	+	3	1135	c.976G>A	c.(976-978)Gac>Aac	p.D326N	SERPINA3_uc001ydo.4_Missense_Mutation_p.D351N|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.D326N|SERPINA3_uc001yds.3_Missense_Mutation_p.D326N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	326					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)		TAACCTGAACGACATACTTCT	0.498000														107			8		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115229433	115229433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115229433G>A	uc001efe.2	-	3	461	c.413C>T	c.(412-414)tCa>tTa	p.S138L	AMPD1_uc001eff.2_Missense_Mutation_p.S134L	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	105					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	GGTTGGAGATGAGGAAATGTA	0.453000														94			14		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168519	171168519	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:171168519C>T	uc001ghk.1	+	4	636	c.519C>T	c.(517-519)agC>agT	p.S173S	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	173					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTCCATAGCCGCCAATACA	0.443000														65			12		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61424021	61424021	+	Missense_Mutation	SNP	C	T	T	rs145829924		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61424021C>T	uc010qig.1	-	3	849	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	134					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						CCTCGGCGATCGTCAAAATAC	0.393000														65			4		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4788845	4788845	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4788845C>T	uc010vsl.2	+	6	820	c.576C>T	c.(574-576)ccC>ccT	p.P192P	MINK1_uc010vsk.2_Silent_p.P192P|MINK1_uc010vsm.2_Silent_p.P192P|MINK1_uc010vsn.2_Silent_p.P192P|MINK1_uc010vso.2_Silent_p.P137P|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	192	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TTGGGACTCCCTACTGGATGG	0.567000														146			17		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221940	32221940	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:32221940G>A	uc001btn.3	-	3	852	c.498C>T	c.(496-498)ccC>ccT	p.P166P	BAI2_uc010ogp.2_Silent_p.P154P|BAI2_uc010ogq.2_Silent_p.P166P|BAI2_uc001bto.3_Silent_p.P166P|BAI2_uc001btq.1_Silent_p.P154P|BAI2_uc010ogr.1_Silent_p.P154P	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	166					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGCCTCGGAGGGCTCAGCCG	0.627000														48			7		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390569	8390569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:8390569C>T	uc001apb.3	+	3	1016	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	SLC45A1_uc001apc.3_Missense_Mutation_p.S37L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	339					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCATCTCGCCGCCCAGC	0.692000														44			11		0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67191701	67191701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67191701G>A	uc001olc.4	+	7	3710	c.2530G>A	c.(2530-2532)Gag>Aag	p.E844K	CARNS1_uc010rpr.2_Missense_Mutation_p.E828K|CARNS1_uc009yrp.3_Missense_Mutation_p.E705K|CARNS1_uc021qmh.1_Missense_Mutation_p.E263K	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	705					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TTGGATCCTGGAGCTCTATGG	0.627000														74			5		0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64022859	64022859	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:64022859T>G	uc001dbf.3	+	9	1583	c.1289T>G	c.(1288-1290)tTt>tGt	p.F430C		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	430	EF-hand 3.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GAATATAATTTTTTTGAATTG	0.294000														29			3		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41513752	41513752	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:41513752T>C	uc003azl.4	+	1	1051	c.656T>C	c.(655-657)cTg>cCg	p.L219P		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	219					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCAACTTACTGACTGAGCCT	0.517000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					42			6		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34809826	34809826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:34809826G>A	uc010gfq.3	+	9	3137	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q	EPB41L1_uc002xeu.3_Missense_Mutation_p.R725Q|EPB41L1_uc002xev.3_Missense_Mutation_p.R826Q|EPB41L1_uc002xew.3_Missense_Mutation_p.R718Q|EPB41L1_uc002xex.3_Missense_Mutation_p.R647Q|EPB41L1_uc002xey.3_Missense_Mutation_p.R577Q|EPB41L1_uc002xez.3_Missense_Mutation_p.R725Q|EPB41L1_uc002xfb.3_Missense_Mutation_p.R827Q	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	827					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATCGAGAAGCGAATCATCATT	0.537000														151			11		0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349236	38349236	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:38349236G>A	uc010cwu.1	+	12	1675	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	RAPGEFL1_uc010wfd.1_Silent_p.E331E	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	601					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	p.E395E(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGAACATCGAGAAGCTGGTGA	0.517000														165			16		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47581688	47581688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:47581688C>T	uc002leb.2	-	1	376	c.88G>A	c.(88-90)Gac>Aac	p.D30N	MYO5B_uc021ukb.1_Missense_Mutation_p.D29N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	30	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)		TCTTTGTAGTCCTTGGTTAAC	0.527000														85			8		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61757561	61757561	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:61757561C>T	uc003xue.3	+	21	5481	c.4989C>T	c.(4987-4989)ttC>ttT	p.F1663F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1663					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCAAAAGCTTCATCTGGGATC	0.478000														182			20		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7252524	7252524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7252524C>T	uc001qsn.3	-	3	682	c.589G>A	c.(589-591)Gag>Aag	p.E197K	C1RL_uc009zft.3_Missense_Mutation_p.E197K	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	197					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAATAGGGCTCCTGGCAGTGG	0.612000														32			6		0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177547340	177547340	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:177547340C>T	uc003mik.1	+	2	739	c.492C>T	c.(490-492)gcC>gcT	p.A164A	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	164						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCCGGGCCAGCCAGGCCC	0.701000														11			3		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67188749	67188749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:67188749G>A	uc010dfa.1	-	16	2705	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.S210L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	609	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAACAAAGATGATCCTGCACA	0.323000														167			18		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31726056	31726056	+	Missense_Mutation	SNP	C	T	T	rs28399977	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:31726056C>T	uc003nwu.2	+	12	1257	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	MSH5_uc003nwx.2_Missense_Mutation_p.L394F|MSH5_uc003nwv.2_Missense_Mutation_p.L377F|MSH5_uc003nww.2_Missense_Mutation_p.L377F|MSH5_uc011dof.1_Missense_Mutation_p.L76F|MSH5_uc003nwy.1_Missense_Mutation_p.L51F|SAPCD1_uc003nwz.4_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	377			L -> F (in dbSNP:rs28399977).		chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TATCGCCAGCCTCATTGGGAA	0.552000								Direct reversal of damage;Mismatch excision repair (MMR)						71			4		0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124805822	124805822	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124805822C>T	uc001qbk.3	-	0	487	c.81G>A	c.(79-81)caG>caA	p.Q27Q	HEPACAM_uc001qbl.1_Silent_p.Q27Q	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	27					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCCTACCTGTCTGGATCAGAA	0.582000														21			4		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23221108	23221108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23221108G>A	uc002dlm.1	+	6	1254	c.1115G>A	c.(1114-1116)tGc>tAc	p.C372Y		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	372					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity	p.C372F(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TACAGTCAGTGCACGGAGGAC	0.602000														114			9		0	0	1	0	0
C5orf44	80006	broad.mit.edu	37	5	64957927	64957927	+	Silent	SNP	C	T	T	rs150042544	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:64957927C>T	uc003jua.4	+	10	1278	c.948C>T	c.(946-948)acC>acT	p.T316T	C5orf44_uc003jtz.4_Silent_p.T316T|C5orf44_uc010iwv.3_Silent_p.T310T|C5orf44_uc003juc.4_Silent_p.T310T	NM_001093755	NP_001087224	A5PLN9	CE044_HUMAN	Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA.	316										kidney(4)|large_intestine(2)|lung(1)|ovary(1)	8						TACCAGATACCGTAAACCTTG	0.393000														46			3		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403715	85403715	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:85403715G>A	uc001dkm.3	-	9	1402	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	387						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCCAAACCAAGAGCGTAGAGG	0.403000														67			14		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381462	156381462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:156381462C>T	uc003lwh.2	-	1	421	c.364G>A	c.(364-366)Gat>Aat	p.D122N	TIMD4_uc010jii.2_Missense_Mutation_p.D122N	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	122	Ig-like V-type.					integral to membrane		p.N121N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTTTACATCGTTGAACCAG	0.507000														49			7		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057081	53057081	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:53057081C>T	uc010epq.1	+	4	1089	c.912C>T	c.(910-912)tgC>tgT	p.C304C	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.	304					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)		CCCTTACATGCCATCATAGAC	0.403000														176			22		0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72873292	72873292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:72873292C>T	uc002aut.4	+	11	1750	c.1436C>T	c.(1435-1437)gCt>gTt	p.A479V		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	479					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TATGTCTTCGCTTTCTACCTC	0.458000														107			11		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138552730	138552730	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138552730G>A	uc011kql.2	-	14	4969	c.4920C>T	c.(4918-4920)atC>atT	p.I1640I	KIAA1549_uc011kqi.2_Silent_p.I424I|KIAA1549_uc011kqk.2_Silent_p.I424I|KIAA1549_uc011kqj.2_Silent_p.I1640I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1640						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGGGCATCCGATGTAGGCTG	0.627000			O	BRAF	pilocytic astrocytoma									51			5		0	0	1	0	0
C22orf32	91689	broad.mit.edu	37	22	42477982	42477982	+	Silent	SNP	C	T	T	rs143702734	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:42477982C>T	uc003bca.3	+	1	318	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	80						integral to membrane|mitochondrion				ovary(1)	1						TTCTCTATGTCGGGACACTCA	0.488000														171			6		0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45931683	45931683	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:45931683G>C	uc001nbt.3	-	10	1310	c.998C>G	c.(997-999)aCa>aGa	p.T333R	C11orf94_uc001nbs.4_5'Flank|PEX16_uc001nbu.3_3'UTR	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	0	Interaction with PEX19.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CCAGGGCTGTGTGTGGGGCCT	0.672000														79			8		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111935966	111935966	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:111935966C>T	uc003vge.2	+	2	465	c.336C>T	c.(334-336)atC>atT	p.I112I	ZNF277_uc003vgd.3_Silent_p.I112I|ZNF277_uc003vgf.2_Silent_p.I34I	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	112						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AACAGCCCATCACAGATTTTT	0.328000														101			6		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132584	59132584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59132584C>T	uc010rks.2	+	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCATGATATCCTATGGCTAT	0.423000														108			7		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176709573	176709573	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:176709573C>T	uc003mfr.4	+	18	6138	c.6000C>T	c.(5998-6000)acC>acT	p.T2000T	NSD1_uc003mft.4_Silent_p.T1731T|NSD1_uc011dfx.2_Silent_p.T1648T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2000	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.L1999>?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATATGCTCACCCTAGACAAAG	0.383000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				108			6		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349582	233349582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:233349582C>T	uc002vsv.2	-	4	1193	c.988G>A	c.(988-990)Gac>Aac	p.D330N	ECEL1_uc010fya.1_Missense_Mutation_p.D330N|ECEL1_uc010fyb.1_Missense_Mutation_p.D37N	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	330					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGCCGTAGGTCGTCATGCTCT	0.617000														124			10		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350809	101350809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101350809G>A	uc010txj.1	-	0	376	c.317C>T	c.(316-318)tCa>tTa	p.S106L	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	106										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGCCTGGTGTGAACCGTTGCA	0.537000														64			12		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628294	33628294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:33628294G>A	uc001uus.3	+	1	1218	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	KL_uc001uur.1_Missense_Mutation_p.E97K	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	404	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATTGACCTTGAATTTAACCA	0.418000														173			22		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449724	105449724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:105449724G>A	uc022cca.1	+	0	299	c.299G>A	c.(298-300)aGa>aAa	p.R100K	MUM1L1_uc004emg.2_Missense_Mutation_p.R100K|MUM1L1_uc004emf.2_Missense_Mutation_p.R100K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	100										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGAATGAGAGAACAAATTTG	0.438000														27			3		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368423	27368423	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:27368423G>C	uc003njf.1	+	2	792	c.274G>C	c.(274-276)Gat>Cat	p.D92H	ZNF391_uc021ypw.1_Missense_Mutation_p.D92H	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAACTCCAAAGATAATTCAGA	0.373000														58			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174807	140174807	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140174807G>A	uc003lhd.2	+	0	364	c.258G>A	c.(256-258)gtG>gtA	p.V86V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.V86V|PCDHAC2_uc011czy.2_Silent_p.V86V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	101	Cadherin 1.				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)			TTTTGTTTGTGAATTCTCGGA	0.602000														332			28		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273823	100273823	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:100273823C>T	uc021xqi.1	-	0		c.95G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACTTTTCCTGCTGTGCTCATA	0.323000														111			5		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432591	2432591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:2432591C>T	uc010qxl.2	-	17	2782	c.2773G>A	c.(2773-2775)Gag>Aag	p.E925K	TRPM5_uc001lwm.4_Missense_Mutation_p.E925K|TRPM5_uc009ydn.3_Missense_Mutation_p.E927K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	925						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)		CCATCAATCTCGTCCAGTGGG	0.642000														18			4		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889714	34889714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:34889714G>A	uc002yrz.3	-	14	2215	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	GART_uc002yrx.3_Missense_Mutation_p.S635F|GART_uc010gmd.3_Missense_Mutation_p.S297F|GART_uc002yry.3_Missense_Mutation_p.S635F	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	635	AIRS.				'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)	GTACTGGAGGGAAGATTTTGC	0.458000														142			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107199217	107199217	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:107199217C>T	uc021ser.1	-	16		c.1472G>A								Parts of antibodies, mostly variable regions.																		CCCCAGACTCCACCAGCTGCA	0.572000														247			20		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134994	71134994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:71134994G>A	uc003tvy.3	+	7	1304	c.1304G>A	c.(1303-1305)aGa>aAa	p.R435K	WBSCR17_uc003tvz.3_Missense_Mutation_p.R134K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	435						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R435R(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGAAAGAAGAGCATTAAGG	0.463000														85			7		0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61552739	61552739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61552739G>A	uc001jks.4	-	8	1593	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	454						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGCTGCTGAGGGGACCGTGGG	0.607000			T	RET	NSCLC									123			12		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759103	55759103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55759103C>T	uc010spk.2	+	0	209	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTGGAAATTTCATTCACGTCT	0.438000														74			4		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814029	137814029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:137814029G>A	uc002tva.1	+	1	86	c.86G>A	c.(85-87)gGa>gAa	p.G29E	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	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)		GGTCCCGGAGGAGTCCAGAGT	0.493000														37			4		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185535	8185536	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:8185535_8185536GG>AA	uc003wsh.4	-	3	2756_2757	c.2756_2757CC>TT	c.(2755-2757)tcc>tTT	p.S919F		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	919							ATP binding|non-membrane spanning protein tyrosine kinase activity										CGCTCAGCTGGGAGGATGAGGC	0.678000														51			4		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981301	7981301	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7981301C>T	uc010sgh.2	-	5	811	c.790_splice	c.e5+1	p.I264_splice	SLC2A14_uc001qtk.3_Splice_Site_p.I249_splice|SLC2A14_uc001qtl.3_Splice_Site_p.I226_splice|SLC2A14_uc001qtm.3_Splice_Site_p.I226_splice|SLC2A14_uc010sgg.2_Splice_Site_p.I140_splice|SLC2A14_uc001qtn.3_Splice_Site_p.I249_splice|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	249					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GATACTCACTCCGCGTAGCAT	0.438000														74			7		0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063911	74063911	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:74063911C>A	uc003pgs.2	-	0	89	c.38G>T	c.(37-39)tGg>tTg	p.W13L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	13					multicellular organismal development	cytoplasm	RNA binding	p.W13L(2)		NS(1)|endometrium(1)|lung(5)	7						AACTTTCACCCACGGCGGGAT	0.582000														65			6		0.000274275	0.000275535	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78942989	78942989	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:78942989G>A	uc004akc.2	+	31	4861	c.4323G>A	c.(4321-4323)ctG>ctA	p.L1441L		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGAAAGGCCTGATCATGAACC	0.587000														344			55		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596017	140596017	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140596017C>T	uc003lja.1	+	0	2509	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCCCTCCCCAGT	0.478000														108			10		0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41166440	41166440	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:41166440T>C	uc003xnt.3	-	0	551	c.239A>G	c.(238-240)aAc>aGc	p.N80S		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	80	FZ.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CTCCAGCAGGTTGGGCAGCAC	0.647000														26			3		0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107282	249107282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:249107282G>A	uc001iew.1	-	5	1169	c.617C>T	c.(616-618)gCt>gTt	p.A206V	SH3BP5L_uc010pzp.1_Missense_Mutation_p.A99V|SH3BP5L_uc001iev.1_Missense_Mutation_p.A87V	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	206										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTGGACCCGAGCCTCAGCCTG	0.637000														29			14		0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15777212	15777212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:15777212G>A	uc009zif.3	-	18	2268	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	EPS8_uc001rdb.3_Missense_Mutation_p.S725F|EPS8_uc009zig.3_Missense_Mutation_p.S465F|EPS8_uc010shv.2_Missense_Mutation_p.S465F	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	725					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTCTGGTGTGGAGTCGTAAGT	0.468000														77			7		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158484827	158484827	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:158484827C>T	uc003qqx.2	+	8	1238	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Nonsense_Mutation_p.Q378*|SYNJ2_uc003qqy.2_Nonsense_Mutation_p.Q141*|SYNJ2_uc011efn.1_Nonsense_Mutation_p.Q306*|SYNJ2_uc010kjo.1_Nonsense_Mutation_p.Q327*|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	378	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCTAAGTTTTCAGAAAGGCAC	0.488000														176			12		0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316469	39316469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39316469G>A	uc002hwc.3	-	0	515	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	159						keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGGCCACAATGGGGCCTGTAG	0.617000														117			12		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003902	34003902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:34003902C>T	uc003oir.4	-	7	2348	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E	GRM4_uc011dsn.2_Missense_Mutation_p.G615E|GRM4_uc010jvh.3_Missense_Mutation_p.G662E|GRM4_uc010jvi.3_Missense_Mutation_p.G354E|GRM4_uc003oio.3_Missense_Mutation_p.G354E|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.G522E|GRM4_uc003oiq.3_Missense_Mutation_p.G529E|GRM4_uc011dsm.2_Missense_Mutation_p.G493E	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	662					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GATGCTCATCCCTAGTCCCAG	0.607000														92			7		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52777579	52777579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52777579G>A	uc001sah.1	-	1	598	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	184	Coil 1A.|Rod.		R -> Q (in dbSNP:rs1613931).			keratin filament	structural constituent of epidermis	p.R184L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTAGGAACCGAACCTAAATC	0.493000														49			4		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057740	158057740	+	Nonsense_Mutation	SNP	G	A	A	rs62636642		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:158057740G>A	uc003ipj.2	+	4	619	c.417G>A	c.(415-417)tgG>tgA	p.W139*	GLRB_uc021xtp.1_Nonsense_Mutation_p.W139*|GLRB_uc021xtq.1_Nonsense_Mutation_p.W139*	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	139					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AGTGTTTATGGAAACCTGATT	0.408000														64			6		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680486	48680486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:48680486G>A	uc002irk.1	+	20	4467	c.4095G>A	c.(4093-4095)atG>atA	p.M1365I	CACNA1G_uc002iri.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irj.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irl.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irm.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irn.1_Missense_Mutation_p.M1342I|CACNA1G_uc002iro.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irp.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irq.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irr.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irs.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irt.1_Missense_Mutation_p.M1365I|CACNA1G_uc002iru.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irv.1_Missense_Mutation_p.M1365I|CACNA1G_uc002irw.1_Missense_Mutation_p.M1342I|CACNA1G_uc002irx.1_Missense_Mutation_p.M1278I|CACNA1G_uc002iry.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isg.1_Missense_Mutation_p.M1278I|CACNA1G_uc002ish.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isi.1_Missense_Mutation_p.M1255I|CACNA1G_uc002irz.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isa.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isd.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isb.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isc.1_Missense_Mutation_p.M1278I|CACNA1G_uc002ise.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isf.1_Missense_Mutation_p.M1278I|CACNA1G_uc002isj.3_Missense_Mutation_p.M89I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1365					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.S1364F(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGTCCATGGTCTCTGACA	0.642000														79			7		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548961	158548961	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158548961C>T	uc010pin.2	-	0	729	c.729G>A	c.(727-729)agG>agA	p.R243R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGAAGGGATCCTGAGGACAG	0.453000														73			10		0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472403	23472403	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:23472403G>A	uc002wth.1	+	1	456	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	33						extracellular region	cysteine-type endopeptidase inhibitor activity	p.R33G(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGTGCTGAGGAAATTAAAAC	0.527000														135			12		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39716429	39716429	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:39716429T>C	uc001wux.3	+	3	845	c.651T>C	c.(649-651)tcT>tcC	p.S217S	MIA2_uc010amy.2_Silent_p.S148S	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	217						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCCCACCATCTTCAGCTGTGT	0.423000														71			7		0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082322	16082322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:16082322G>A	uc002rci.3	+	1	436	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.G46R	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	46					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GACCCCCCCGGGGGAGGACAT	0.652000			A		neuroblastoma									46			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13830773C>T	uc003jfd.2	-	35	6036	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome					67			5		0	0	1	0	0
GPER	2852	broad.mit.edu	37	7	1131671	1131671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:1131671G>A	uc010ksd.1	+	1	696	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.V103M|GPER_uc003ska.1_Missense_Mutation_p.V103M|GPER_uc003skb.2_Missense_Mutation_p.V103M|GPER_uc021zyo.1_Missense_Mutation_p.V103M	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	103						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CAACCTGGCGGTGGCGGACCT	0.577000														91			16		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123263380	123263380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:123263380C>T	uc021pzz.1	-	9	2010	c.1363G>A	c.(1363-1365)Gca>Aca	p.A455T	FGFR2_uc021pzv.1_Missense_Mutation_p.A343T|FGFR2_uc021pzw.1_Missense_Mutation_p.A340T|FGFR2_uc021pzx.1_Missense_Mutation_p.A366T|FGFR2_uc021pzy.1_Missense_Mutation_p.A456T|FGFR2_uc010qtl.2_Missense_Mutation_p.A339T|FGFR2_uc010qtm.2_Missense_Mutation_p.A338T|FGFR2_uc021qaa.1_Missense_Mutation_p.A456T|FGFR2_uc021qab.1_Missense_Mutation_p.A367T|FGFR2_uc021qac.1_Missense_Mutation_p.A384T|FGFR2_uc001lfg.4_Missense_Mutation_p.A63T	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	455					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGGTGTCTGCCGTTGAAGAG	0.522000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					56			5		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57467106	57467106	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:57467106C>T	uc003pdx.3	+	11	1131	c.1044C>T	c.(1042-1044)atC>atT	p.I348I		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	349					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTAGAACATCCGTCACAGCT	0.413000														44			4		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103988233	103988233	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:103988233G>A	uc001tjw.3	+	2	462	c.276G>A	c.(274-276)agG>agA	p.R92R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	92					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATATTTGTAGGAAGGACTATC	0.507000														133			10		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128632252	128632252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:128632252G>A	uc003ifk.2	+	13	2657	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	852										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GACATTGGTGGAAGAGGTAGG	0.408000														29			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484784	128484784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:128484784G>A	uc003vnz.4	+	20	3474	c.3265G>A	c.(3265-3267)Ggg>Agg	p.G1089R	FLNC_uc003voa.4_Missense_Mutation_p.G1089R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1089					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGACACCAAGGGGGCTGGCAC	0.632000														64			4		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414157	157414157	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:157414157C>T	uc003wno.3	-	14	2362	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	PTPRN2_uc003wnp.3_Silent_p.K730K|PTPRN2_uc003wnq.3_Silent_p.K718K|PTPRN2_uc003wnr.3_Silent_p.K709K|PTPRN2_uc011kwa.2_Silent_p.K770K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	747	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTTCCCACTCCTTCTCCAGCC	0.627000														334			18		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310489	56310489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:56310489G>A	uc010rjl.2	-	0	245	c.245C>T	c.(244-246)tCg>tTg	p.S82L	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATATTAGTCGACATCTGCGG	0.443000														55			6		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429828	42429828	+	Silent	SNP	C	T	T	rs63751698		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42429828C>T	uc002igp.1	+	11	1752	c.1533C>T	c.(1531-1533)agC>agT	p.S511S		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	511					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGCCCGTAGCCCTCACGTGG	0.632000														121			10		0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155003537	155003537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:155003537G>A	uc022cio.1	+	0	4	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SPRY3_uc004fnq.1_Missense_Mutation_p.D2N	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	2					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGCAAAATGGATGCTGCGGT	0.468000														187			17		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221123	5221124	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5221123_5221124CC>TT	uc010qyz.2	-	0	807_808	c.807_808GG>AA	c.(805-810)atggtg>atAAtg	p.269_270MV>IM		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACGGTGCACCATTGTGAGGC	0.475000														32			6		0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53728233	53728233	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:53728233G>A	uc001cvi.2	-	10	1896	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	LRP8_uc001cvh.2_Silent_p.F106F|LRP8_uc001cvj.2_Silent_p.F553F|LRP8_uc001cvk.2_Silent_p.F383F|LRP8_uc001cvl.2_Silent_p.F424F|LRP8_uc001cvm.1_Silent_p.F138F	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	553					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACCAATACATGAACCTAAAAG	0.488000														316			42		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31606681	31606681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31606681G>A	uc002rnv.1	-	9	905	c.826C>T	c.(826-828)Cct>Tct	p.P276S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	276	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACAATCATAGGAAACAGCATA	0.493000														38			6		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110163659	110163659	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:110163659C>T	uc009wfh.1	+	1	566	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Silent_p.L8L|AMPD2_uc010ovr.1_5'UTR|AMPD2_uc010ovs.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	8					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGGGCCTCTTCCGCCTGC	0.672000														58			10		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754833	167754833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:167754833C>T	uc003qvs.1	+	2	1533	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	482					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGTCCTGAAGCTGCACCTGCC	0.517000														128			8		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181834	81181834	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:81181834C>T	uc002bfw.1	+	8	1247	c.987C>T	c.(985-987)ttC>ttT	p.F329F	KIAA1199_uc010unn.1_Silent_p.F329F	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	329										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGGAGTGGTTCGATCATGATA	0.473000														71			5		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345316	20345316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20345316C>T	uc001vwh.1	+	0	890	c.890C>T	c.(889-891)gCc>gTc	p.A297V		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTAAAGATAGCCATGAGGAAA	0.348000														39			6		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22475890	22475890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22475890G>A	uc001wcu.4	+	0	127	c.29G>A	c.(28-30)aGg>aAg	p.R10K	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.R10K|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_Intron					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		AGCCTGTTGAGGGCAGTCATA	0.488000														17			4		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493570	150493570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150493570C>T	uc022apx.1	-	0	214	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TMEM176B_uc003whu.4_Missense_Mutation_p.E30K|TMEM176B_uc003whv.4_Missense_Mutation_p.E30K|TMEM176B_uc003whw.4_Missense_Mutation_p.E30K	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	30					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGCTGACTCCTGGTGGATG	0.532000														69			10		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45938072	45938072	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:45938072G>A	uc010gzz.3	+	10	1365	c.1218G>A	c.(1216-1218)ggG>ggA	p.G406G	FBLN1_uc003bgg.1_Silent_p.G368G|FBLN1_uc003bgh.3_Silent_p.G368G|FBLN1_uc003bgi.1_Silent_p.G368G|FBLN1_uc003bgj.1_Silent_p.G368G	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	368	EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGCCCTGTGGGAAGGGACATC	0.542000														254			17		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101569171	101569171	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:101569171C>T	uc002bwr.3	+	19	3016	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	899					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATCAGCTTCCTCATAGAAA	0.582000														208			13		0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24837187	24837187	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:24837187C>T	uc002zzx.3	+	4	1732	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.V323V|ADORA2A_uc011ajs.2_Silent_p.V184V|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Silent_p.V323V|ADORA2A_uc010gup.3_Silent_p.V323V|ADORA2A_uc003aab.3_Silent_p.V323V|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	323					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)	GTGCCCGGGTCTTGGCAGCTC	0.642000														34			8		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804348	152804348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:152804348G>A	uc021zhb.1	-	11	1445	c.1222C>T	c.(1222-1224)Cct>Tct	p.P408S	SYNE1_uc003qot.4_Missense_Mutation_p.P415S|SYNE1_uc003qou.4_Missense_Mutation_p.P408S|SYNE1_uc010kjb.1_Missense_Mutation_p.P391S|SYNE1_uc003qpa.1_Missense_Mutation_p.P408S|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	408					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)		AGAGGTGCAGGAAGAGATTTA	0.423000										HNSCC(10;0.0054)				71			5		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967025	7967025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:7967025C>T	uc010sgh.2	-	9	1516	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N	SLC2A14_uc001qtk.3_Missense_Mutation_p.D484N|SLC2A14_uc001qtl.3_Missense_Mutation_p.D461N|SLC2A14_uc001qtm.3_Missense_Mutation_p.D461N|SLC2A14_uc010sgg.2_Missense_Mutation_p.D375N|SLC2A14_uc001qtn.3_Missense_Mutation_p.D484N|SLC2A14_uc001qto.3_Missense_Mutation_p.D119N	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	484					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CGTGTGATATCCTCAAAAGTC	0.517000														73			5		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1808281	1808281	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:1808281G>A	uc002ltw.3	-	4	690	c.456C>T	c.(454-456)aaC>aaT	p.N152N	ATP8B3_uc002ltv.3_Silent_p.N99N|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_5'Flank|ATP8B3_uc002ltz.1_Silent_p.N99N	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	152					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gctcgtacaggttcagcggca	0.602000														76			8		0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48059943	48059943	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:48059943A>T	uc002rwe.3	-	8	1191	c.1118T>A	c.(1117-1119)aTt>aAt	p.I373N	FBXO11_uc010fbl.3_Missense_Mutation_p.I289N|FBXO11_uc002rwg.2_Missense_Mutation_p.I373N|FBXO11_uc010fbk.3_5'Flank|FBXO11_uc021vhe.1_Missense_Mutation_p.I173N	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	373					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGATCAATAATAGGGCTACA	0.333000			"""Mis, F, D"""		DLBCL									184			7		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34542851	34542851	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:34542851G>A	uc001zhw.3	-	10	1736	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	SLC12A6_uc001zhv.3_Silent_p.I473I|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.I509I|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.I465I|SLC12A6_uc001zib.3_Silent_p.I515I|SLC12A6_uc001zic.3_Silent_p.I524I|SLC12A6_uc010bau.3_Silent_p.I524I|SLC12A6_uc001zid.3_Silent_p.I465I|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Silent_p.I336I	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	524					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGGTGGTCAGGATGGCAAGGA	0.413000														75			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776635	13776635	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:13776635G>A	uc003jfd.2	-	54	9328	c.9286C>T	c.(9286-9288)Cga>Tga	p.R3096*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3096	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCTGTTTCGAAATTTCTCC	0.483000									Kartagener syndrome					59			6		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188432	98188432	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:98188432C>T	uc001kml.2	-	4	835	c.594G>A	c.(592-594)agG>agA	p.R198R	TLL2_uc009xvf.2_Silent_p.R146R	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	198	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCATCCGTCCTTTCTATGA	0.498000														61			4		0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94335415	94335415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:94335415G>A	uc001dqf.3	-	6	2321	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	DNTTIP2_uc010otm.2_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTAATTGCGAAATTTCTTC	0.323000														12			4		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522961	20522961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:20522961G>A	uc001reh.2	+	0	783	c.743G>A	c.(742-744)gGg>gAg	p.G248E		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	248					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGCGTGCTGGGGATCCTCTTG	0.607000														57			5		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8146321	8146321	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:8146321G>A	uc002mjf.3	-	56	7274	c.7257C>T	c.(7255-7257)ctC>ctT	p.L2419L	FBN3_uc002mje.3_Silent_p.L258L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2419	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGTTTTTGCAGAGGAAGGTAC	0.582000														112			6		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949864	7949864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:7949864C>T	uc010rbh.2	-	0	346	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCATTGCTCCCAGAAGAAAA	0.368000														74			7		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241715278	241715278	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:241715278C>T	uc010fzk.3	-	10	1195	c.948G>A	c.(946-948)cgG>cgA	p.R316R	KIF1A_uc002vzy.3_Silent_p.R316R|KIF1A_uc002vzz.2_Silent_p.R316R	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	316	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGGTTTTCCCGGAGGAGCC	0.572000														66			4		0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50106595	50106595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:50106595C>T	uc002efw.3	+	4	754	c.592C>T	c.(592-594)Cct>Tct	p.P198S	HEATR3_uc021thv.1_Missense_Mutation_p.P112S|HEATR3_uc002efx.3_Missense_Mutation_p.P112S	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	198							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AAGTAGGTTTCCTACCAATGT	0.348000														96			11		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36541577	36541577	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:36541577G>A	uc003aot.3	-	1	332	c.294C>T	c.(292-294)atC>atT	p.I98I	APOL3_uc003aoq.3_Silent_p.I27I|APOL3_uc003aor.3_Silent_p.I27I|APOL3_uc003aos.3_Silent_p.I27I|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	98					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TAGTCAGCAGGATTTGCAGAT	0.512000														75			18		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516442	140516442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140516442G>A	uc003liq.3	+	0	1643	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	476	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGCCACAGACAGAGACTC	0.637000														264			22		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701903	56701903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:56701903C>T	uc010ygh.2	-	3	781	c.781G>A	c.(781-783)Gcc>Acc	p.A261T		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	261					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R260I(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCACAGAGGCTCTTTTCTGG	0.493000														98			11		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346310	72346310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:72346310C>T	uc002llw.2	+	0	3388	c.3335C>T	c.(3334-3336)tCa>tTa	p.S1112L	ZNF407_uc010xfc.2_Missense_Mutation_p.S1112L|ZNF407_uc010dqu.2_Missense_Mutation_p.S1112L|ZNF407_uc002llu.2_Missense_Mutation_p.S1111L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAATAATTTCAGGTCAACCA	0.353000														18			3		0	0	1	0	0
IL9	3578	broad.mit.edu	37	5	135231462	135231462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:135231462G>A	uc003lbb.1	-	0	55	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_000590	NP_000581	P15248	IL9_HUMAN	Homo sapiens interleukin 9 (IL9), mRNA.	15					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCTGCCACGGAGCACAGGAG	0.567000														72			4		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132096504	132096504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:132096504C>T	uc003kxr.2	-	8	1514	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N	SEPT8_uc003kxs.1_Missense_Mutation_p.D426N|SEPT8_uc003kxu.2_Missense_Mutation_p.D426N|SEPT8_uc011cxi.1_Missense_Mutation_p.D424N|SEPT8_uc003kxv.2_Missense_Mutation_p.D424N|SEPT8_uc003kxt.2_Missense_Mutation_p.D366N	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	426					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTTCTTGTCCTTGTCCTTC	0.632000														90			4		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55530938	55530938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:55530938G>A	uc002ehz.4	+	9	1884	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	MMP2_uc010vhd.2_Missense_Mutation_p.E449K|MMP2_uc010ccc.3_Missense_Mutation_p.E475K	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	525	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGCGGTATACGAGGCCCCACA	0.612000														120			11		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257848	57257848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:57257848G>A	uc001cym.4	-	1	1044	c.638C>T	c.(637-639)cCc>cTc	p.P213L	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P213L	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	213										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						TACAAAAGAGGGATCTTCAGA	0.502000														63			6		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127808401	127808401	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:127808401G>A	uc002tns.2	-	16	1933	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	BIN1_uc010yzf.2_Silent_p.L309L|BIN1_uc002tnt.2_Silent_p.L333L|BIN1_uc010yzg.2_Silent_p.L394L|BIN1_uc002tnu.2_Silent_p.L348L|BIN1_uc002tnv.2_Silent_p.L474L|BIN1_uc002tnw.2_Silent_p.L421L|BIN1_uc002tnx.2_Silent_p.L378L|BIN1_uc002tny.2_Silent_p.L430L|BIN1_uc002tnz.2_Silent_p.L442L|BIN1_uc002toa.2_Silent_p.L406L|BIN1_uc002tob.2_Silent_p.L363L|BIN1_uc002toc.2_Silent_p.L399L	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	517					cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCTGGGGGCAGGTCCAAGCGC	0.637000											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		131			20		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219603768	219603768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:219603768C>T	uc002viy.3	+	2	1739	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	TTLL4_uc010zkl.1_Missense_Mutation_p.P292S|TTLL4_uc010fvx.3_Missense_Mutation_p.P457S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	457					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCCCCCTTTTCCTCAAACTCT	0.567000														45			4		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689803	83689803	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:83689803C>T	uc003uhz.3	-	4	840	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	175	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGCTGTCAGCAGCTTAGGGT	0.353000														245			29		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378624	31378624	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:31378624G>A	uc003tch.3	-	1	612	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	NEUROD6_uc022abi.1_Silent_p.L87L	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	87					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCCAATCGCAGCTTTGTTGTC	0.488000														225			22		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51183265	51183265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:51183265C>T	uc003bnh.4	+	4	908	c.896C>T	c.(895-897)tCg>tTg	p.S299L		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	299					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|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;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATGATTCAATCGGCCACCCCT	0.602000														24			5		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476690	101476690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:101476690C>T	uc003dvk.1	+	8	1267	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	CEP97_uc010hpm.1_Missense_Mutation_p.P380S|CEP97_uc011bhf.1_Missense_Mutation_p.P355S|CEP97_uc003dvl.1_Missense_Mutation_p.P110S|CEP97_uc003dvm.1_Missense_Mutation_p.P252S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	414	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGACTGTCTCCACTATCACC	0.473000														77			4		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52992707	52992707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52992707C>T	uc001sar.2	-	1	702	c.616G>A	c.(616-618)Gat>Aat	p.D206N	KRT72_uc001saq.2_Missense_Mutation_p.D206N|KRT72_uc010sns.1_Missense_Mutation_p.D206N|KRT72_uc010snt.1_Missense_Mutation_p.D18N	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	206	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCCACCAAATCCTGCATGTTC	0.517000														303			18		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155327536	155327536	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:155327536A>C	uc009wqq.3	-	13	7295	c.6815T>G	c.(6814-6816)cTt>cGt	p.L2272R	ASH1L_uc001fkt.3_Missense_Mutation_p.L2267R	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2272	Post-SET.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACACTTACAAAGTTGCTTTGA	0.428000														34			8		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29040878	29040878	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:29040878A>G	uc002kws.3	+	6	876	c.767A>G	c.(766-768)aAa>aGa	p.K256R		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	256	Cadherin 2.				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)			TGTAATATTAAAGTGAAAGAT	0.343000														39			8		0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2678502	2678502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:2678502G>A	uc003mty.4	-	9	1289	c.992C>T	c.(991-993)tCg>tTg	p.S331L	MYLK4_uc003mtx.4_Missense_Mutation_p.S46L	NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	331	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.S331S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGCCTCCTCCGAGATGTCCTG	0.517000														166			38		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313818	57313818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57313818G>A	uc021qjh.1	+	4	1188	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	396										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAAAAAATACGAGGTGGGCAT	0.622000														15			3		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993042	21993042	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21993042A>G	uc001wbe.3	-	1	1102	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L	SALL2_uc010tly.2_Missense_Mutation_p.F272L|SALL2_uc010tlz.1_Missense_Mutation_p.F137L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F139L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	274							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGGTGGAAGAAGGCCTGCTTG	0.602000														43			3		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90741917	90741917	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:90741917G>A	uc003uky.2	+	12	1437	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	CDK14_uc003ukz.1_Silent_p.K387K|CDK14_uc010les.1_Silent_p.K359K|CDK14_uc011khl.1_Silent_p.K276K	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	405	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GTTCCCCAAAGAACAGACTGT	0.502000														75			10		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522420	23522420	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:23522420G>A	uc003jgo.3	+	6	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	172					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428000										HNSCC(3;0.000094)				127			20		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124594	86124594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:86124594G>A	uc002blv.1	+	6	3465	c.3295G>A	c.(3295-3297)Ggt>Agt	p.G1099S	AKAP13_uc002blt.1_Missense_Mutation_p.G1099S|AKAP13_uc002blu.1_Missense_Mutation_p.G1099S|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1099					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						TGCTCTACAAGGTATGGCTGA	0.468000														68			8		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986345	53986345	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:53986345T>A	uc011dxa.2	+	1	230	c.197T>A	c.(196-198)tTc>tAc	p.F66Y	MLIP_uc003pcf.2_Missense_Mutation_p.F55Y|MLIP_uc003pcg.4_Missense_Mutation_p.F55Y|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	55						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACCTCTAAATTCCTTGTTAAA	0.363000														96			7		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806950	143806950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143806950C>T	uc011ktz.2	+	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAACCATCTCCTTTGTTCCA	0.423000														116			14		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440154	40440154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:40440154G>A	uc003gvc.2	-	3	1467	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	RBM47_uc003gvd.2_Missense_Mutation_p.L253F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.L215F|RBM47_uc003gvg.1_Missense_Mutation_p.L253F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	253	RRM 3.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCGATCATGAGGTTGCGCACG	0.612000														156			8		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138183326	138183326	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:138183326A>G	uc003esk.3	+	8	1281	c.1055A>G	c.(1054-1056)aAc>aGc	p.N352S	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	352	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATCTACAGGAACCTGAACCCC	0.562000														81			6		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1965396	1965396	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:1965396C>T	uc021qsx.1	-	21	2240	c.2009_splice	c.e21-1	p.G670_splice	CACNA2D4_uc009zds.2_Splice_Site|CACNA2D4_uc009zdt.1_Splice_Site_p.G534_splice|CACNA2D4_uc009zdr.2_5'Flank	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	670						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCATGCAGGCCTGAAACCAGA	0.507000														268			23		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891746	6891746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6891746C>T	uc001meu.1	+	0	761	c.761C>T	c.(760-762)tCa>tTa	p.S254L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAAATAATTCACCTGAGGGC	0.413000														205			16		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27206697	27206697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:27206697G>A	uc011lno.2	+	13	2795	c.2353G>A	c.(2353-2355)Gat>Aat	p.D785N	TEK_uc003zqi.4_Missense_Mutation_p.D828N|TEK_uc011lnp.2_Missense_Mutation_p.D680N|TEK_uc003zqj.1_Missense_Mutation_p.D762N	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	828					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAAATTTCAAGATGTGATTGG	0.458000														42			6		0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216769	134216769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:134216769G>A	uc003vrr.3	+	2	664	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	115					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGGCCACAGGGATTCAAGGTT	0.507000														142			12		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14802994	14802994	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:14802994G>A	uc003byy.3	+	14	2819	c.2367G>A	c.(2365-2367)ggG>ggA	p.G789G	C3orf20_uc003byz.3_Silent_p.G667G|C3orf20_uc003bza.3_Silent_p.G667G|C3orf20_uc003bzb.1_Silent_p.G290G|C3orf20_uc011avj.2_Silent_p.G116G	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	789						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						TTGCCGGGGGGAAGCTCATTT	0.483000														62			6		0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211082789	211082789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211082789C>T	uc002vdz.4	-	2	499	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	ACADL_uc010zjg.1_Missense_Mutation_p.E91K	NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	91					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CCAGCTTTTTCCCAAACCTCC	0.393000														55			4		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626373	80626373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:80626373C>T	uc003pja.4	-	5	1216	c.897G>A	c.(895-897)atG>atA	p.M299I	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	299			M -> V (in dbSNP:rs3812153).		fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CATTTTCTATCATGAGTTGTT	0.363000														46			5		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010657	45010657	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:45010657C>T	uc003tmh.2	-	8	991	c.847_splice	c.e8-1	p.G283_splice	MYO1G_uc003tmg.2_Splice_Site_p.G45_splice|MYO1G_uc010kym.2_Splice_Site_p.G168_splice|MYO1G_uc003tmi.1_Splice_Site_p.G195_splice|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Splice_Site_p.G45_splice	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	283	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTCGATGTTTCCCTGGTGATG	0.582000														31			5		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4839027	4839027	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:4839027G>A	uc003snj.1	-	14	3383	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Silent_p.F575F|RADIL_uc011jwc.1_Silent_p.F830F|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Silent_p.F366F	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	1070					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGCGTGCGGAAATGGATCT	0.632000														103			15		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788311	10788311	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:10788311G>A	uc002czz.1	-	0	492	c.420C>T	c.(418-420)aaC>aaT	p.N140N		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	140					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCTGGCCCAGGTTCCGGCAGG	0.607000														203			19		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73072345	73072345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:73072345C>T	uc010izf.3	+	5	840	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	RGNEF_uc011csq.2_Nonsense_Mutation_p.Q222*|RGNEF_uc003kcy.1_Nonsense_Mutation_p.Q222*|RGNEF_uc021yam.1_Nonsense_Mutation_p.Q222*	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	222					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TTTCAGTTTTCAGGGCAGATG	0.512000														34			3		0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239564	142239564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142239564C>T	uc011ksd.2	-	1	327	c.316G>A	c.(316-318)Gct>Act	p.A106T	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AAATACAAAGCTGAGTCCCCC	0.517000														107			6		0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39493345	39493345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:39493345G>A	uc002ywp.3	-	0	110	c.5C>T	c.(4-6)tCg>tTg	p.S2L	DSCR8_uc002ywt.4_5'Flank|DSCR8_uc010gnp.3_5'Flank|DSCR8_uc010gnq.3_5'Flank|DSCR8_uc010gnr.3_5'Flank|DSCR8_uc010gns.3_5'Flank	NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	2										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						gatgattaacgacatggacac	0.493000														41			5		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2151282	2151282	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2151282G>A	uc002lva.3	-	0	275	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	AP3D1_uc002luy.3_Silent_p.L18L|AP3D1_uc002luz.3_Silent_p.L18L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	18					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCCTGCAGATTCTTGTCG	0.701000														52			12		0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80543889	80543889	+	Silent	SNP	C	T	T	rs148172805	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:80543889C>T	uc002kfn.3	+	6	1560	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	FOXK2_uc002kfm.1_Silent_p.S463S|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	463					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCTCGACCTCCCAGCCACCCG	0.627000														69			9		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493513	150493513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150493513G>A	uc022apx.1	-	0	271	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	TMEM176B_uc003whu.4_Missense_Mutation_p.H49Y|TMEM176B_uc003whv.4_Missense_Mutation_p.H49Y|TMEM176B_uc003whw.4_Missense_Mutation_p.H49Y	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	49					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCCAGGGTGAAAAAGAAAC	0.562000														83			6		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113480	117113480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:117113480G>A	uc003pxj.1	-	5	2628	c.2606C>T	c.(2605-2607)gCt>gTt	p.A869V	GPRC6A_uc003pxk.1_Missense_Mutation_p.A694V|GPRC6A_uc003pxl.1_Missense_Mutation_p.A798V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	869					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTCCAGTGAAGCAGGACTCAG	0.453000														57			3		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763562	110763562	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:110763562C>T	uc003puf.3	-	3	1135	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	SLC22A16_uc003pue.3_Silent_p.T337T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	356					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.T356K(1)		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)		GTGTCCTTTTCGTAATGCTCC	0.393000														115			14		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815748	12815748	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12815748G>A	uc001auh.3	+	1	426	c.210G>A	c.(208-210)ggG>ggA	p.G70G	C1orf158_uc010obe.1_Silent_p.G70G	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	70										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGTATGGGAAGAGGAAAG	0.522000														35			6		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432378	104432378	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:104432378C>T	uc004bbp.2	-	2	2917	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K	GRIN3A_uc004bbq.1_Silent_p.K772K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	772					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTCATAGATCTTCTCACCTA	0.393000														61			4		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559749	33559749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:33559749C>T	uc001rll.1	-	2	1349	c.1052G>A	c.(1051-1053)tGg>tAg	p.W351*	SYT10_uc009zju.1_Nonsense_Mutation_p.W161*	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	351						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)					AATATCTTTCCATACTGTGGC	0.338000														57			6		0	0	1	0	0
BTF3P11	690	broad.mit.edu	37	13	77502732	77502732	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:77502732C>T	uc001vkb.4	+	0		c.148C>T								Homo sapiens basic transcription factor 3 pseudogene 11 (BTF3P11), non-coding RNA.																		GTTCAGGCATCGCTGGCAGCA	0.443000														39			7		0	0	1	0	0
SNORD114-31	767612	broad.mit.edu	37	14	101459645	101459645	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:101459645C>T	uc001yjv.3	+	1		c.74_splice	c.e1+1							Homo sapiens small nucleolar RNA, C/D box 114-31 (SNORD114-31), small nucleolar RNA.																		CTCTGAGGTTCAATATAATAG	0.393000														49			12		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325667	31325667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:31325667C>T	uc010dmg.1	+	11	5910	c.5855C>T	c.(5854-5856)tCc>tTc	p.S1952F	ASXL3_uc002kxq.2_Missense_Mutation_p.S1659F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGGCCTCTTCCAAGACCCCA	0.532000														64			7		0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126255181	126255181	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:126255181C>T	uc003eja.3	+	1	210	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	55					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGCAGAAGCTCTATGACCTGG	0.602000														83			4		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100711595	100711595	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:100711595C>T	uc001thn.3	+	9	1337	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	SCYL2_uc009ztw.1_Silent_p.F256F|SCYL2_uc001thm.1_Silent_p.F429F	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	429					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTTAATTTTCCTACAAAAAA	0.333000														31			5		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5989424	5989424	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5989424A>T	uc010qzu.2	-	0	301	c.301T>A	c.(301-303)Ttc>Atc	p.F101I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	101						integral to membrane|plasma membrane	olfactory receptor activity										ACCTGAAGGAAGCAGGCAGGG	0.527000														56			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081376	3081376	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:3081376C>T	uc022aqr.1	-	27	4749	c.4359G>A	c.(4357-4359)ggG>ggA	p.G1453G	CSMD1_uc011kwj.2_Silent_p.G846G|CSMD1_uc003wqe.3_Silent_p.G610G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1454	CUB 9.					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)		CCGTCAGATTCCCTCCACAAG	0.502000														19			3		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471453	146471453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:146471453C>T	uc003weu.2	+	1	704	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	63	F5/8 type C.				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)			CCCGGCTATGCCAAGATAAAC	0.368000										HNSCC(39;0.1)				47			6		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124978440	124978440	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124978440G>A	uc003yqw.3	+	4	500	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	98	C2 1.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGTGGGTGAGAACATTGACC	0.498000														27			4		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598248	31598248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:31598248C>T	uc002rnv.1	-	14	1679	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	534					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCACTCACGTCTTCCAGGTTC	0.542000														168			11		0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51509906	51509906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:51509906C>T	uc002pux.1	-	2	361	c.274G>A	c.(274-276)Gac>Aac	p.D92N	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.D63N|KLK8_uc002puv.1_5'Flank	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	92	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGGAAGAAGTCCGTAACCCGG	0.602000														57			13		0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482918	100482918	+	Missense_Mutation	SNP	G	A	A	rs150582291	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100482918G>A	uc003uwy.2	+	9	1511	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	SRRT_uc010lhl.1_Missense_Mutation_p.R414Q|SRRT_uc003uxa.2_Missense_Mutation_p.R414Q|SRRT_uc003uwz.2_Missense_Mutation_p.R415Q	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	415					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCAAGCCGCGGCCGCTGCAT	0.632000														73			12		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9051441	9051441	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:9051441G>A	uc001mhi.2	-	17	2397	c.2322C>T	c.(2320-2322)acC>acT	p.T774T	SCUBE2_uc021qdk.1_Silent_p.T250T|SCUBE2_uc001mhj.2_Silent_p.T676T	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	802						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTTTACACTGGGTTATGTTTG	0.483000														191			14		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416468	48416468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:48416468G>A	uc001jfa.1	-	0	386	c.226C>T	c.(226-228)Cct>Tct	p.P76S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	76					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.V75V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCTGCGAAGGGACCCCACTC	0.557000														90			6		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49071670	49071670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:49071670G>A	uc004dnb.3	-	28	3568	c.3506C>T	c.(3505-3507)cCa>cTa	p.P1169L	CACNA1F_uc010nip.3_Missense_Mutation_p.P1158L	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1169					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACGGCGGAGTGGCTGGGCCTT	0.577000														23			6		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786566	113786566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:113786566G>A	uc002tiq.1	-	3	315	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	IL36B_uc002tir.1_Missense_Mutation_p.L71F	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	71					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.L71V(1)		kidney(1)|ovary(1)|pancreas(1)	3						AAGAGACAGAGATCTTTTCCC	0.418000														71			5		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499825	1499825	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1499825C>A	uc002qwr.3	+	11	2157	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.L691M|TPO_uc002qwx.3_Missense_Mutation_p.L634M|TPO_uc002qwu.3_Missense_Mutation_p.L634M|TPO_uc010yio.2_Missense_Mutation_p.L518M|TPO_uc010yip.2_Missense_Mutation_p.L691M|TPO_uc002qwy.1_Missense_Mutation_p.L31M|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	691					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S690S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAAGCACTCCCTGTCTCGGGT	0.552000														43			5		2.7689e-08	2.79588e-08	1	1	0
SI	6476	broad.mit.edu	37	3	164776837	164776837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164776837C>T	uc003fei.3	-	11	1375	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	438	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATGTTGTTCCATTGGCACGT	0.358000										HNSCC(35;0.089)				26			3		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9776047	9776047	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:9776047C>T	uc001aqe.4	+	3	719	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	PIK3CD_uc001aqb.4_Silent_p.L171L|PIK3CD_uc010oaf.2_Silent_p.L171L|PIK3CD_uc021ogb.1_5'UTR	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	171					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCCTGCAGCTGGAGCCCTC	0.667000														23			4		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597323	75597323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:75597323G>A	uc003kei.1	+	11	2087	c.1953G>A	c.(1951-1953)tgG>tgA	p.W651*		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	651					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCTCAGCCTGGAACTCTCTTG	0.507000														189			24		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146276180	146276180	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:146276180G>A	uc003qlf.3	-	1	678	c.279C>T	c.(277-279)tcC>tcT	p.S93S	SHPRH_uc003qle.3_Silent_p.S93S|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	93					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGACAAAGGGGAAAAAATAC	0.368000														91			4		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117093864	117093864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:117093864G>A	uc001lcg.3	+	18	3496	c.3110G>A	c.(3109-3111)gGa>gAa	p.G1037E	ATRNL1_uc010qsm.2_Intron|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1037	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTCACCACAGGAAAGCAGTGT	0.373000														53			9		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670982	186670982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:186670982G>A	uc002upl.3	+	16	17216	c.17216G>A	c.(17215-17217)cGa>cAa	p.R5739Q	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAAGAATTCGAACATCAAGC	0.378000														16			3		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773938	229773938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:229773938C>T	uc001hts.1	+	3	3714	c.3578C>T	c.(3577-3579)cCc>cTc	p.P1193L	URB2_uc009xfd.1_Missense_Mutation_p.P1193L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1193						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAACTGCATCCCAAAAAGGAC	0.448000														128			11		0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957934	35957934	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:35957934G>A	uc011lpi.2	-	0	218	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L54L(1)|p.F53>?(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TGTGCAGGCGGGAGTCAAGGA	0.547000														82			8		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388791	128388791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:128388791C>T	uc003qbk.3	-	11	2397	c.2030G>A	c.(2029-2031)gGa>gAa	p.G677E	PTPRK_uc010kfc.3_Missense_Mutation_p.G677E|PTPRK_uc003qbj.3_Missense_Mutation_p.G677E|PTPRK_uc011ebu.2_Missense_Mutation_p.G677E|PTPRK_uc003qbl.1_Missense_Mutation_p.G547E|PTPRK_uc011ebv.1_Missense_Mutation_p.G677E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	677	Fibronectin type-III 4.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGTAGGTTTCCCGGGGGGAG	0.542000														75			6		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44598665	44598665	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:44598665C>T	uc003cnj.3	+	1	542	c.126C>T	c.(124-126)ctC>ctT	p.L42L	ZNF167_uc003cnk.3_Silent_p.L42L|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Silent_p.L42L|ZNF167_uc003cni.3_Silent_p.L42L|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	42					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GCAGCAGTCTCCAGAAGAACT	0.577000														67			14		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187317	6187317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6187317G>A	uc002mef.1	+	11	1791	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	ACSBG2_uc002mee.1_Missense_Mutation_p.E335K|ACSBG2_uc002meg.1_Missense_Mutation_p.E522K|ACSBG2_uc002meh.1_Missense_Mutation_p.E522K|ACSBG2_uc002mei.1_Missense_Mutation_p.E472K|ACSBG2_uc010xiz.1_Missense_Mutation_p.E522K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	522					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCTGGTGGTGAAAATGTGCC	0.483000														134			12		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74473679	74473679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:74473679C>T	uc002axj.3	-	16	2118	c.1758G>A	c.(1756-1758)atG>atA	p.M586I	STRA6_uc002axi.3_Missense_Mutation_p.M356I|STRA6_uc010ulh.2_Missense_Mutation_p.M585I|STRA6_uc002axk.3_Missense_Mutation_p.M547I|STRA6_uc002axl.3_Missense_Mutation_p.M479I|STRA6_uc010bji.3_Missense_Mutation_p.M547I|STRA6_uc021sqg.1_Missense_Mutation_p.M562I|STRA6_uc002axm.3_Missense_Mutation_p.M547I|STRA6_uc002axn.3_Missense_Mutation_p.M538I|STRA6_uc010uli.2_Missense_Mutation_p.M584I	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	547					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCTGAGGTCCATCTGGCCAA	0.632000														53			5		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654470	46654470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:46654470C>T	uc003bhh.3	-	0	4750	c.4750G>A	c.(4750-4752)Gtt>Att	p.V1584I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1584					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTAGCAAAAACCAAAAACCAT	0.423000														88			10		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150030	20150030	+	Silent	SNP	C	T	T	rs150673228	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20150030C>T	uc002wru.3	+	12	1425	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	C20orf26_uc010zse.2_Silent_p.F417F|C20orf26_uc010zsf.1_Silent_p.F437F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	437										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCCAGAACTTCGTGAAAATGG	0.488000														87			5		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893202	1893202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1893202C>T	uc002qxe.3	-	15	3158	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	MYT1L_uc002qxd.3_Missense_Mutation_p.M775I|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	777					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCTGCTTGTTCATGCTGAGGT	0.597000														81			11		0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23059356	23059356	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:23059356G>A	uc003xda.3	-	3	700	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	198					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CAGCAGAATTGTCATTCCGGA	0.512000														76			8		0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68671265	68671265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:68671265G>A	uc010rqe.1	-	0	39	c.14C>T	c.(13-15)tCc>tTc	p.S5F	IGHMBP2_uc001ooj.1_5'Flank|IGHMBP2_uc001ook.1_5'Flank|MRPL21_uc001ooh.3_5'UTR|MRPL21_uc001ooi.3_Missense_Mutation_p.S5F	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	5					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCGTCAGGGAAGATGCTGC	0.677000														128			17		0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074273	46074273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46074273G>A	uc002zfs.1	-	0	304	c.259C>T	c.(259-261)Cca>Tca	p.P87S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	87	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						CCAGAGGTTGGGCAGAAGGAA	0.642000														69			4		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167288875	167288875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:167288875C>T	uc002udu.2	-	14	2675	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	849					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCCTTATTATCCAGATTTTCT	0.378000														46			3		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543502	4543502	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:4543502T>A	uc001qmr.1	-	2	550	c.506A>T	c.(505-507)aAt>aTt	p.N169I		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	169					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTCGTAGGCATTGTAATTGTT	0.512000														186			16		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116684	36116684	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:36116684G>A	uc003jkb.1	-	10	1729	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	438						integral to membrane		p.C437R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGATGGAAAGGAAGCAGGCAA	0.338000														40			3		0	0	1	0	0
OR2A1	346528	broad.mit.edu	37	7	143929691	143929691	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143929691C>T	uc011kub.2	-	0	246	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GCAGGAGGTTCGCCAGCATCT	0.572000														77			8		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139361533	139361533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:139361533G>A	uc004chx.3	-	5	4114	c.3805C>T	c.(3805-3807)Cca>Tca	p.P1269S	SEC16A_uc004chv.4_Missense_Mutation_p.P659S|SEC16A_uc004chw.3_Missense_Mutation_p.P1269S|SEC16A_uc010nbn.3_Missense_Mutation_p.P1269S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1091					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGTGACCTGGATCTGTGAGC	0.473000														55			14		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98602800	98602800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:98602800C>T	uc003upp.3	+	67	10749	c.10540C>T	c.(10540-10542)Cgg>Tgg	p.R3514W	TRRAP_uc011kis.2_Missense_Mutation_p.R3485W|TRRAP_uc003upr.3_Missense_Mutation_p.R3220W	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3514					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACCGCAGCCCGGCGGCTGTA	0.587000														156			23		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127821182	127821182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:127821182C>T	uc002tns.2	-	8	1123	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	BIN1_uc010yzf.2_Missense_Mutation_p.G192S|BIN1_uc002tnt.2_Missense_Mutation_p.G216S|BIN1_uc010yzg.2_Missense_Mutation_p.G247S|BIN1_uc002tnu.2_Missense_Mutation_p.G216S|BIN1_uc002tnv.2_Missense_Mutation_p.G247S|BIN1_uc002tnw.2_Missense_Mutation_p.G216S|BIN1_uc002tnx.2_Missense_Mutation_p.G216S|BIN1_uc002tny.2_Missense_Mutation_p.G247S|BIN1_uc002tnz.2_Missense_Mutation_p.G216S|BIN1_uc002toa.2_Missense_Mutation_p.G216S|BIN1_uc002tob.2_Missense_Mutation_p.G216S|BIN1_uc002toc.2_Missense_Mutation_p.G216S	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	247	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTCCAGGCCCGCGATGCTC	0.612000														35			4		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086776	39086776	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	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														75			7		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916441	150916441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:150916441G>A	uc003eyq.4	-	2	973	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.P245S	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	245						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGGTATACGGGATTCGGACA	0.438000														95			11		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2716264	2716264	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:2716264C>T	uc009zdu.1	+	26	3697	c.3384C>T	c.(3382-3384)ctC>ctT	p.L1128L	CACNA1C_uc001qkc.2_Silent_p.L1108L|CACNA1C_uc001qjz.2_Silent_p.L1108L|CACNA1C_uc001qkd.2_Silent_p.L1108L|CACNA1C_uc001qke.2_Silent_p.L1108L|CACNA1C_uc001qkf.2_Silent_p.L1108L|CACNA1C_uc009zdw.1_Silent_p.L1108L|CACNA1C_uc001qkg.2_Silent_p.L1108L|CACNA1C_uc001qkh.2_Silent_p.L1108L|CACNA1C_uc001qkl.2_Silent_p.L1128L|CACNA1C_uc001qkj.2_Silent_p.L1108L|CACNA1C_uc001qkk.2_Silent_p.L1108L|CACNA1C_uc001qkn.2_Silent_p.L1108L|CACNA1C_uc001qkm.2_Silent_p.L1108L|CACNA1C_uc001qko.2_Silent_p.L1128L|CACNA1C_uc001qkp.2_Silent_p.L1108L|CACNA1C_uc001qkq.2_Silent_p.L1108L|CACNA1C_uc001qku.2_Silent_p.L1108L|CACNA1C_uc001qkr.2_Silent_p.L1108L|CACNA1C_uc001qks.2_Silent_p.L1108L|CACNA1C_uc001qkt.2_Silent_p.L1108L|CACNA1C_uc009zdv.1_Silent_p.L1105L|CACNA1C_uc001qkb.2_Silent_p.L1108L|CACNA1C_uc001qka.1_Silent_p.L643L|CACNA1C_uc001qki.1_Silent_p.L844L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1128	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGATGGCCCTCTTCACCGTCT	0.562000														31			4		0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37846083	37846083	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:37846083T>C	uc011byb.1	+	6	891	c.818T>C	c.(817-819)gTt>gCt	p.V273A	PGM2_uc011bya.1_Missense_Mutation_p.V134A|PGM2_uc011byc.1_Missense_Mutation_p.V113A	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	273					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTGACCTTGTTCCTCCTGAG	0.498000														125			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616858	77616858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:77616858C>T	uc003yau.2	+	1	922	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.Q179*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q179*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	179						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)			GAAGAGTGATCAGTCTGCTTC	0.488000										HNSCC(33;0.089)				27			3		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95497751	95497751	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:95497751C>T	uc010fhp.3	-	7		c.796_splice	c.e7+1					Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ACGGTTCTCACCTTCTCCTTG	0.488000														147			6		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652922	40652922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40652922C>T	uc002hzs.3	+	15	2065	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.S626L|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.S626L|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.S583L|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.S583L|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.S272L|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.S485L	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	626					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCTGGTTATTCAATGTTGTAT	0.433000														148			14		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67189323	67189323	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:67189323G>A	uc010dfa.1	-	15	2587	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Silent_p.L171L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	570	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGCTCCTTCAGGAGGCTCCAC	0.458000														82			4		0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120865425	120865425	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:120865425T>C	uc003yov.3	-	1	348	c.213A>G	c.(211-213)caA>caG	p.Q71Q		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	Homo sapiens defective in sister chromatid cohesion 1 homolog (S. cerevisiae) (DSCC1), mRNA.	71					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAGCACAGCTTGCTCGTCTT	0.388000														93			6		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134993770	134993770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:134993770G>A	uc004ezh.3	+	17	2346	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	SAGE1_uc010nry.1_Missense_Mutation_p.E696K|SAGE1_uc011mvv.2_Missense_Mutation_p.E351K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	727								p.E727*(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGGAGGAGGAGATGGAAAA	0.428000														77			10		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427755	119427755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:119427755C>T	uc001ehl.1	-	7	1406	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	TBX15_uc009whj.1_Missense_Mutation_p.G188E	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	470						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGAAAGGACCCCAGCTGGCC	0.572000														40			3		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282371	23282371	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23282371C>T	uc001wgr.4	-	1	375	c.237G>A	c.(235-237)ggG>ggA	p.G79G	SLC7A7_uc001wgs.4_Silent_p.G79G|SLC7A7_uc001wgt.4_Silent_p.G79G|SLC7A7_uc001wgu.4_Silent_p.G79G|SLC7A7_uc001wgv.4_Silent_p.G79G	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	79					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.V78V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAAGAGGCCCCCGACAGCCC	0.552000														120			12		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750067	141750067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141750067G>A	uc003vwy.3	+	22	2674	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	874	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTTTATGTGAGTTTTCTGT	0.403000														117			7		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42211043	42211043	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:42211043G>A	uc003ose.2	-	14	3425	c.2862C>T	c.(2860-2862)atC>atT	p.I954I	TRERF1_uc011duq.1_Silent_p.I851I|TRERF1_uc003osb.2_Silent_p.I690I|TRERF1_uc003osc.2_Silent_p.I690I|TRERF1_uc003osd.2_Silent_p.I934I	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	934	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGCCGCATGATCTTTTTCC	0.552000														182			7		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465363	58465363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:58465363G>A	uc002aez.2	+	2	692	c.335G>A	c.(334-336)gGa>gAa	p.G112E	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G47E	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	112					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGTTCTTGGGAGCCTTTGTG	0.473000														137			7		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999633	55999633	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55999633C>A	uc010rjc.2	-	0	1029	c.1029G>T	c.(1027-1029)atG>atT	p.M343I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTTTCCCAAACATTTTTTTCA	0.318000														53			6		0.0293803	0.0294552	1	1	0
PXDN	7837	broad.mit.edu	37	2	1667458	1667458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:1667458C>T	uc002qxa.3	-	11	1550	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N	PXDN_uc002qxb.1_Missense_Mutation_p.D496N	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	496	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H495H(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCCTGGTCGTGGAGGGCA	0.622000														144			16		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36704154	36704154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:36704154G>A	uc002rpd.3	+	5	1180	c.1114G>A	c.(1114-1116)Ggt>Agt	p.G372S		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	372	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGCCCAGTGTGGTGAGATAAA	0.483000														88			21		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035923	95035923	+	Silent	SNP	G	A	A	rs139990252		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:95035923G>A	uc010avd.3	+	4	1660	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	SERPINA4_uc001ydk.3_Silent_p.T425T|SERPINA4_uc001ydl.3_Silent_p.T425T	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	425					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.T425T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGACCCCACGAAACCATAGC	0.577000														62			8		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891505	2891505	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:2891505G>A	uc002kln.3	+	3	1539	c.1380G>A	c.(1378-1380)acG>acA	p.T460T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	460					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCAATGTGACGGAGAAGAACG	0.448000														150			23		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999909	108999909	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:108999909G>A	uc002tea.1	+	4	931	c.558G>A	c.(556-558)tgG>tgA	p.W186*	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Nonsense_Mutation_p.W111*	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGAAAGGATGGTGGGAAGCCA	0.473000														73			5		0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85135491	85135491	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:85135491A>G	uc001dki.3	-	4	625	c.299T>C	c.(298-300)cTa>cCa	p.L100P	SSX2IP_uc001dkf.3_Missense_Mutation_p.L73P|SSX2IP_uc001dkh.3_Missense_Mutation_p.L100P|SSX2IP_uc010orz.2_Missense_Mutation_p.L73P|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.L73P|SSX2IP_uc001dkj.3_Missense_Mutation_p.L100P|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.L96P	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	100					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATACAATTTAGTACAGCTAC	0.378000														56			13		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32083616	32083616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:32083616G>A	uc003nzn.3	-	17	2045	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.S668F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	671					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGGGTTGGGGATGGCTGTTT	0.602000														72			6		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34091493	34091493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:34091493C>T	uc011kap.2	+	8	1071	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	233					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGTGTTTGACCTCCCTTTTGG	0.458000														74			8		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145535820	145535820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:145535820G>A	uc001eoa.3	+	15	2084	c.2008G>A	c.(2008-2010)Ggc>Agc	p.G670S	ITGA10_uc010oyv.2_Missense_Mutation_p.G539S|ITGA10_uc009wiw.3_Missense_Mutation_p.G527S|ITGA10_uc010oyw.2_Missense_Mutation_p.G615S	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	670					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R669Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGGCGGCGAGGCCAAGAGGC	0.577000														83			9		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115489885	115489885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:115489885C>T	uc001efr.3	+	26	2475	c.2266C>T	c.(2266-2268)Ctc>Ttc	p.L756F	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.L756F|SYCP1_uc009wgw.3_Intron	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	756					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		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)		ACTATCCAATCTCAAAGCTGA	0.318000														57			10		0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242644105	242644105	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:242644105C>T	uc002wcd.3	+	1	100	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ING5_uc021vzk.1_Silent_p.F25F	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	25					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAGGAACTTCCAGCTGATGC	0.512000														152			16		0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660857	100660858	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:100660857_100660858CC>TT	uc009ztv.1	-	1	1	c.-2_splice	c.e1-1		SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Splice_Site|DEPDC4_uc001thi.3_Splice_Site|DEPDC4_uc001thj.1_Splice_Site|DEPDC4_uc001thk.1_Splice_Site|DEPDC4_uc001thl.1_Splice_Site	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.						intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GGCACCATAGCCCCGCCCCACC	0.644000														88			6		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936104	43936104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43936104C>T	uc003bdy.2	-	27	4096	c.3782G>A	c.(3781-3783)gGg>gAg	p.G1261E	EFCAB6_uc003bdz.2_Missense_Mutation_p.G1109E|EFCAB6_uc010gzi.2_Missense_Mutation_p.G1109E|EFCAB6_uc010gzj.1_3'UTR	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GACACTGCTCCCTCTCTGGGC	0.617000														98			8		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800233	67800233	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:67800233A>C	uc001vik.3	-	1	3032	c.2340T>G	c.(2338-2340)aaT>aaG	p.N780K	PCDH9_uc001vil.3_Missense_Mutation_p.N780K|PCDH9_uc010thl.2_Missense_Mutation_p.N780K|PCDH9_uc001vin.3_Missense_Mutation_p.N780K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	780	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATAGGAGGCATTTCCAGCAG	0.458000														99			5		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30105123	30105123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:30105123G>A	uc003npk.2	+	1	696	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	TRIM40_uc003npm.2_Missense_Mutation_p.E104K	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	104						intracellular	zinc ion binding			ovary(1)	1						GTCTCATCATGAACTGACCAT	0.552000														129			9		0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639498	97639498	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:97639498G>A	uc001vmx.1	-	3	760	c.516C>T	c.(514-516)atC>atT	p.I172I	OXGR1_uc010afr.1_Silent_p.I172I|OXGR1_uc021rlr.1_Silent_p.I172I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	172						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)			TGGTTGATGTGATCAAGAAGG	0.453000														101			10		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860664	16860664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:16860664C>T	uc002neu.4	+	5	1633	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	NWD1_uc002net.4_Missense_Mutation_p.A269V|NWD1_uc002nev.4_Missense_Mutation_p.A198V|NWD1_uc021uqg.1_Missense_Mutation_p.A269V	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	404	NACHT.						ATP binding			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						TTGCCCCCTGCCCAGGTTCTG	0.602000														97			8		0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52878872	52878872	+	Silent	SNP	G	A	A	rs147704393		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:52878872G>A	uc003dgc.4	-	4	644	c.513C>T	c.(511-513)atC>atT	p.I171I	TMEM110-MUSTN1_uc003dgb.4_5'Flank|TMEM110-MUSTN1_uc003dgd.3_Silent_p.I171I	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		TTAGGAGGACGATGAAGACGA	0.537000														105			9		0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150044289	150044289	+	Silent	SNP	C	T	T	rs140400945		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:150044289C>T	uc001etp.3	+	2	858	c.285C>T	c.(283-285)ttC>ttT	p.F95F	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.F59F|VPS45_uc010pbs.2_Silent_p.F59F|VPS45_uc009wlm.1_Silent_p.F95F|VPS45_uc010pbr.1_Silent_p.F59F	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	95					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction		p.F95F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTATATATTTCATTTGTAAGT	0.333000														78			7		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514958	233514958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233514958G>A	uc001hvt.4	+	8	2467	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	KIAA1804_uc001hvu.4_Missense_Mutation_p.G182R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	736					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGTGGCTCTGGGACTGGACCT	0.527000														79			7		0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38349106	38349106	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:38349106C>T	uc003auj.2	-	1	260	c.51G>A	c.(49-51)cgG>cgA	p.R17R	C22orf23_uc021wpl.1_Silent_p.R17R|POLR2F_uc010gxi.3_5'Flank|POLR2F_uc003aul.3_5'Flank|AK098727_uc003aum.3_5'Flank	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	17										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					TGGGGCGGCGCCGGAACCCAG	0.597000														239			57		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125528070	125528070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:125528070G>A	uc001lhk.1	-	8	1596	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	424					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTAGCCATCGGGGTTGAGGGA	0.627000														108			9		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015427	56015427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:56015427G>A	uc003xsf.3	+	0	411	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	127						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGCGGACGTGGGCACAGACGT	0.687000														107			5		0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967822	88967822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:88967822G>A	uc003hre.3	+	5	1435	c.1348G>A	c.(1348-1350)Ggt>Agt	p.G450S	PKD2_uc011cdf.2_Intron	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	450						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGCAACAGGTGGTGTGATTCC	0.378000														108			8		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108776323	108776323	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:108776323T>C	uc003dxl.3	-	12	1129	c.1042A>G	c.(1042-1044)Aca>Gca	p.T348A	MORC1_uc011bhn.2_Missense_Mutation_p.T348A	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	348					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTCTTGCTGTTTTTAATTCT	0.313000														39			8		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579734	82579734	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82579734G>A	uc003uhx.2	-	5	10459	c.10170C>T	c.(10168-10170)atC>atT	p.I3390I	PCLO_uc003uhv.2_Silent_p.I3390I|PCLO_uc010lec.3_Silent_p.I355I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3321					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						CAGTGCTCAGGATACCAGGTG	0.448000														35			3		0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4623881	4623881	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:4623881C>T	uc010vsg.2	+	14	1373	c.1145_splice	c.e14-1	p.A382_splice	ARRB2_uc002fyj.3_Splice_Site_p.A361_splice|ARRB2_uc002fyk.3_Splice_Site_p.A346_splice|ARRB2_uc002fyl.3_Missense_Mutation_p.A373V|ARRB2_uc002fym.3_Missense_Mutation_p.A358V|ARRB2_uc002fyn.3_Splice_Site_p.A169_splice	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	361	Interaction with AP2B1.|Interaction with TRAF6.				G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GTCCCCCCAGCCGCTCCGGAG	0.587000														48			3		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022114	120022114	+	Missense_Mutation	SNP	G	A	A	rs35167981		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:120022114G>A	uc003ksq.3	+	1	788	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PRR16_uc003ksp.3_Missense_Mutation_p.E186K|PRR16_uc003ksr.3_Missense_Mutation_p.E139K	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	209	Pro-rich.							p.V208A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCGGTTTAATGAAAAAGTACA	0.488000														38			5		0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100084413	100084413	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:100084413A>T	uc003dtw.3	-	11	2271	c.1822T>A	c.(1822-1824)Tta>Ata	p.L608I		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	608					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTGTTTTATAATGTTGGTGGT	0.448000														163			20		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772077	109772077	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:109772077T>C	uc001dwu.2	+	3	430	c.330T>C	c.(328-330)atT>atC	p.I110I		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	110					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GACTCCTCATTGATGAAGCCA	0.507000														243			29		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984787	85984787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:85984787G>A	uc010qmc.2	-	1	202	c.194C>T	c.(193-195)tCa>tTa	p.S65L	LRIT2_uc001kcy.3_Missense_Mutation_p.S65L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	65						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAATAAGGGTGAATTTTCAAT	0.448000														95			8		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72432951	72432951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:72432951G>A	uc004ebi.3	-	0	1760	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	460					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)					CTGCTCTAACGATCAATGTCT	0.348000														19			5		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873319	55873319	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:55873319C>T	uc010riy.2	+	0	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AGTCTTATTCCTTGGGAAGAG	0.368000										HNSCC(53;0.14)				45			6		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902838	75902838	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:75902838G>A	uc001oxe.3	-	3	783	c.660C>T	c.(658-660)atC>atT	p.I220I	WNT11_uc001oxf.1_Silent_p.I220I	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	220					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						AGCAGGTGCGGATGGAGCAGG	0.632000														61			4		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758013	141758013	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141758013G>T	uc003vwy.3	+	30	3758	c.3704G>T	c.(3703-3705)cGg>cTg	p.R1235L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1235	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)	TTGATTGGCCGGCCTGTGATG	0.438000														282			43		2.27459e-33	2.30563e-33	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453618	138453618	+	Splice_Site	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:138453618A>T	uc003vuf.3	-	4	435	c.197_splice	c.e4-1	p.R66_splice	ATP6V0A4_uc003vug.3_Splice_Site_p.R66_splice|ATP6V0A4_uc003vuh.3_Splice_Site_p.R66_splice	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	66					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTTCCAGAAAACCTGAAGAAT	0.458000														39			6		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190148	209190148	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:209190148C>T	uc002vcz.3	+	19	2771	c.2613C>T	c.(2611-2613)tcC>tcT	p.S871S	PIKFYVE_uc010fun.1_Silent_p.S552S|PIKFYVE_uc002vcy.1_Silent_p.S815S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	871					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGAAATATCCTTTCTCATGG	0.438000														56			5		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237620018	237620018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:237620018C>T	uc001hyl.1	+	15	1715	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	532					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCTGAATTCTCTGTATGAG	0.448000														58			3		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333576	44333576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44333576C>T	uc002xpc.3	-	0	83	c.55G>A	c.(55-57)Gat>Aat	p.D19N	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TAACCAAAATCCCAAAGCAAA	0.507000														255			24		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160458	41160458	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:41160458G>A	uc003jmk.2	-	10	1680	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	C6_uc003jml.1_Silent_p.I490I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	490	MACPF.				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)				CCAAGTCCACGATGGGGGCAA	0.498000														52			6		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72301464	72301464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:72301464G>A	uc002jkf.3	+	8	1204	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	DNAI2_uc002jkg.3_Missense_Mutation_p.G365D|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_3'UTR|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	365					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.H364Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCCATCATGGCCCCATCTAC	0.582000									Kartagener syndrome					83			7		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113221378	113221378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:113221378C>T	uc010mtz.3	-	18	3675	c.3338G>A	c.(3337-3339)gGa>gAa	p.G1113E	SVEP1_uc010mua.1_Missense_Mutation_p.G1113E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1113					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGAGAATTTTCCTTCTGGACA	0.423000														101			22		0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104269022	104269022	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:104269022C>T	uc001kvy.2	+	1	470	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SUFU_uc001kvw.2_Silent_p.F93F|SUFU_uc001kvx.3_Silent_p.F93F	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	93					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		acatcagcttcggcctgagtg	0.532000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					184			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89992930	89992930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:89992930C>T	uc003kju.3	+	33	8218	c.8122C>T	c.(8122-8124)Cag>Tag	p.Q2708*	GPR98_uc003kjt.3_Nonsense_Mutation_p.Q414*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q308*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2708					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.Q2708H(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)		TGTTAGCTTTCAGACAGCTTC	0.393000														110			4		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116100456	116100456	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:116100456G>A	uc001lbn.3	-	1	352	c.51C>T	c.(49-51)ttC>ttT	p.F17F	AFAP1L2_uc001lbo.3_Silent_p.F17F|AFAP1L2_uc010qse.2_Silent_p.F17F|AFAP1L2_uc001lbp.3_Silent_p.F17F|AFAP1L2_uc001lbr.1_Silent_p.F17F	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	17					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAATCTTGAGGAAGTCATCCA	0.537000														64			6		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454513	66454514	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66454513_66454514CC>TT	uc001ojd.3	-	34	6919_6920	c.6847_6848GG>AA	c.(6847-6849)ggc>AAc	p.G2283N	SPTBN2_uc001ojc.1_Missense_Mutation_p.A144T	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2283	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCGACGCTGCCCTGGGCCCTG	0.614000														165			17		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2596845	2596845	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2596845G>T	uc002wgf.1	+	14	1950	c.1935G>T	c.(1933-1935)atG>atT	p.M645I	TMC2_uc002wgg.1_Missense_Mutation_p.M629I	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	645						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCAAGGAATGATCTGGTGAG	0.443000														61			4		0.00198382	0.00199191	1	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361650	105361650	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:105361650G>A	uc003ylx.1	+	1	919	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	290					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTAAAGAAAGGAAAAACCTGG	0.493000														80			6		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233193016	233193016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:233193016G>A	uc001hvl.2	-	23	4332	c.4097C>T	c.(4096-4098)tCc>tTc	p.S1366F	PCNXL2_uc001hvk.1_Missense_Mutation_p.S18F|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1366						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCTTGTGTTGGAATTATCCAC	0.408000														20			3		0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96651519	96651519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:96651519G>A	uc003uon.3	-	1	726	c.518C>T	c.(517-519)tCg>tTg	p.S173L	DLX5_uc011kim.1_Missense_Mutation_p.S173L	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	173					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAATCCCAGCGAGGCGGCCAG	0.577000														168			17		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199657	117199657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:117199657C>T	uc003vjd.3	+	10	1664	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	511	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGGTGTTTCCTATGATGAA	0.358000									Cystic Fibrosis					64			5		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882788	228882788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228882788C>T	uc002vpq.2	-	6	2829	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D928N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D928N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	928						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCGCAAAGTCTGTAATGCAG	0.478000														132			6		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028354	61028354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:61028354G>A	uc010qif.1	-	7	1033	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	FAM13C_uc010qid.2_Missense_Mutation_p.R218W|FAM13C_uc001jkn.3_Missense_Mutation_p.R301W|FAM13C_uc001jko.3_Missense_Mutation_p.R301W|FAM13C_uc010qie.2_Missense_Mutation_p.R218W|FAM13C_uc001jkp.3_Missense_Mutation_p.R218W	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	301								p.R301W(1)		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						TCAAATTTCCGAATTTTCCGC	0.507000														34			4		0	0	1	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33422175	33422175	+	RNA	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:33422175G>A	uc002xax.3	-	0		c.91C>T								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		GGGACCTCTGGATTTTTCTTA	0.478000														62			7		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155252751	155252751	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:155252751G>A	uc003inw.2	-	9	2349	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	783	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctaattcacagaaCAGAGACT	0.473000														22			3		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191299	6191299	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:6191299G>A	uc010qzy.2	-	0	258	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A85S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCAAAAGATGGCTAGGG	0.493000														112			11		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38743637	38743637	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38743637T>C	uc021yzh.1	+	12	1981	c.1872T>C	c.(1870-1872)gtT>gtC	p.V624V	DNAH8_uc003ooe.2_Silent_p.V407V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCAAGGGGTTAAGAAAAAGC	0.303000														89			8		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508850	123508850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123508850G>A	uc003vlc.3	+	2	1161	c.523G>A	c.(523-525)Gga>Aga	p.G175R	HYAL4_uc011knz.2_Missense_Mutation_p.G175R	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	175					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTCCGATATGGGAAAGAATGT	0.388000														71			14		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945398	72945398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:72945398G>A	uc021qna.1	+	0	194	c.194G>A	c.(193-195)tGg>tAg	p.W65*	P2RY2_uc001otk.3_Nonsense_Mutation_p.W65*|P2RY2_uc001otj.3_Nonsense_Mutation_p.W65*|P2RY2_uc001otl.3_Nonsense_Mutation_p.W65*	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	65					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CTCAAGACCTGGAATGCGTCC	0.602000														122			5		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164704957	164704957	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:164704957A>G	uc003fei.3	-	44	5229	c.5166T>C	c.(5164-5166)ggT>ggC	p.G1722G		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1722	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAACAGAGAACCCTGTGCCA	0.333000										HNSCC(35;0.089)				90			5		0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36099564	36099564	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:36099564C>T	uc002hok.4	-	1	632	c.411G>A	c.(409-411)agG>agA	p.R137R	HNF1B_uc010wdi.2_Silent_p.R137R|HNF1B_uc021tvv.1_Silent_p.R137R|HNF1B_uc021tvw.1_Silent_p.R137R	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	137					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CGACCACCTCCCTCTGGGGGA	0.552000														53			6		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200143254	200143254	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:200143254A>G	uc001gvb.3	+	7	1748	c.1542A>G	c.(1540-1542)gaA>gaG	p.E514E	NR5A2_uc001gvc.3_Silent_p.E468E|NR5A2_uc009wzh.3_Silent_p.E474E|NR5A2_uc010pph.2_Silent_p.E442E	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	514					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)					TGCAGGCTGAAGAATACCTCT	0.463000														31			5		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98906990	98906990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:98906990G>A	uc002syo.3	+	22	3326	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	VWA3B_uc002sym.3_Missense_Mutation_p.G1021E|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.G678E|VWA3B_uc002syp.1_Missense_Mutation_p.G413E|VWA3B_uc002syq.1_Missense_Mutation_p.G297E|VWA3B_uc002syr.1_Missense_Mutation_p.G338E|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1021										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATTGCAAGGAAATCCAACA	0.353000														33			3		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129922006	129922006	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:129922006G>A	uc003vpq.3	+	9	1069	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V		NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	350					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AGTACAAAGTGGGACCAATCT	0.458000														95			5		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043916	74043916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74043916C>T	uc002sjr.1	+	2	2687	c.2566C>T	c.(2566-2568)Cca>Tca	p.P856S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	856										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAACCCCGTCCATGGAGGAA	0.537000														83			7		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51984484	51984484	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:51984484A>G	uc002abh.3	+	6	1222	c.819A>G	c.(817-819)gaA>gaG	p.E273E	SCG3_uc010ufz.2_Silent_p.E41E	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	273				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACTTTGAGGAACTCCAATATT	0.383000														79			4		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731903	73731903	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:73731903C>T	uc003uam.3	+	1	354	c.27C>T	c.(25-27)ccC>ccT	p.P9P	CLIP2_uc003uan.3_Silent_p.P9P	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	9						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCTGAAGCCCCCCGGCCGTG	0.667000														106			8		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103248989	103248989	+	Missense_Mutation	SNP	G	A	A	rs62514931		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:103248989G>A	uc001tjq.1	-	5	1104	c.631C>T	c.(631-633)Cca>Tca	p.P211S	PAH_uc010swc.1_Missense_Mutation_p.P211S	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	211			P -> T (in PKU; haplotype 4).		L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCAAGAAGTGGAAAAATGTGA	0.433000														64			6		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125076686	125076686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:125076686C>T	uc003yqw.3	+	25	3633	c.3427C>T	c.(3427-3429)Ccc>Tcc	p.P1143S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1143						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAGCCACCTCCCACAGTGGT	0.587000														137			16		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17518322	17518322	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:17518322C>T	uc001mnf.3	-	19	1738	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	USH1C_uc001mne.3_Silent_p.K843K|USH1C_uc009yhb.3_Silent_p.K524K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.K507K	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	543					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGTCATACTCCTTTGGGGGGC	0.582000														100			7		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399600	40399600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:40399600G>A	uc003oph.1	-	1	1718	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	418	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.P418S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGGCTTTTGGGAGGCTCTCC	0.652000														101			6		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467209	44467209	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:44467209G>A	uc001cll.3	-	8	1464	c.1272C>T	c.(1270-1272)caC>caT	p.H424H	SLC6A9_uc009vxe.2_Silent_p.H280H|SLC6A9_uc010okm.1_Silent_p.H351H|SLC6A9_uc001clm.3_Silent_p.H370H|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.H355H|SLC6A9_uc010oko.2_Silent_p.H240H|SLC6A9_uc001cln.3_Silent_p.H351H|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	424						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCACGCCCAGGTGATTGGCCA	0.607000														173			28		0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24416704	24416704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:24416704G>A	uc011djl.2	+	7	930	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MRS2_uc003nea.3_Missense_Mutation_p.E267K|MRS2_uc003neb.3_Missense_Mutation_p.E267K|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.E217K	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	267					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTTGCTAGAAGAGCTCTGTGT	0.308000														165			17		0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43570582	43570582	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:43570582G>A	uc003bdq.3	-	6	1019	c.957C>T	c.(955-957)acC>acT	p.T319T	TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	319	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				AGCGCGGGTGGGTGAGGCTGC	0.647000														109			8		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200593	52200593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52200593G>A	uc001ryw.3	+	26	5501	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K	SCN8A_uc010snl.2_Missense_Mutation_p.E1734K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1775					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCACAGAGGAAAGTGCAGA	0.463000														175			14		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685695	100685695	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100685695G>A	uc003uxp.1	+	2	11051	c.10998G>A	c.(10996-10998)gtG>gtA	p.V3666V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3666	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)					GCACACCTGTGATCACTTCTA	0.493000														246			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9012850	9012850	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9012850T>C	uc002mkp.3	-	33	38798	c.38594A>G	c.(38593-38595)aAc>aGc	p.N12865S	MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12867	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACTGCAGGTTGGTGATGGT	0.552000														259			10		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594178	123594178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:123594178C>T	uc003vle.3	+	2	993	c.554C>T	c.(553-555)aCt>aTt	p.T185I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.T185I|SPAM1_uc022aks.1_Missense_Mutation_p.T185I|SPAM1_uc003vlf.4_Missense_Mutation_p.T185I|SPAM1_uc010lku.3_Missense_Mutation_p.T185I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	185					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ACAGAGGCCACTGAGAAAGCA	0.393000														38			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106667749	106667749	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106667749C>T	uc021ser.1	-	1314		c.27178G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCTT	0.562000														219			23		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	395335	395335	+	Silent	SNP	G	C	C	rs142078818	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:395335G>C	uc001ifp.3	-	24	3135	c.3045C>G	c.(3043-3045)gcC>gcG	p.A1015A	DIP2C_uc009xhi.1_Silent_p.A401A	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1015						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCAGCATCACGGCGATCTTCT	0.617000														77			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436520	179436520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:179436520C>T	uc021vsy.1	-	274	66860	c.66635G>A	c.(66634-66636)cGa>cAa	p.R22212Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15907Q|TTN_uc021vta.1_Missense_Mutation_p.R15840Q|TTN_uc021vtb.1_Missense_Mutation_p.R15715Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23139	Fibronectin type-III 61.						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)			AACATCTTCTCGGCAGGCGTC	0.418000														86			12		0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112327826	112327826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:112327826C>T	uc003kqh.3	+	2	438	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	DCP2_uc010jcc.3_Missense_Mutation_p.H72Y|DCP2_uc011cwa.2_Intron	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA.	72					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus	RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ACTCTTCAGTCATTGTCCGTT	0.333000														132			9		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971536	57971536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:57971536G>A	uc010rkb.2	-	0	118	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	40					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)				AGCACAAAGAGGAGGTTTTGA	0.448000														67			7		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179938	166179938	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166179938G>A	uc002udc.3	+	11	2234	c.1944G>A	c.(1942-1944)gtG>gtA	p.V648V	SCN2A_uc002udd.3_Silent_p.V648V|SCN2A_uc002ude.3_Silent_p.V648V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	648					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATAGCGCTGTGGACTGCAATG	0.592000														29			5		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54578952	54578952	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:54578952G>A	uc002xxa.3	-	0	1061	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	92	C1q.					cell junction|extracellular region|synapse		p.I92I(2)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CGAAGTAAATGATGCGCGTCT	0.652000														367			39		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28623828	28623828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:28623828G>A	uc001urw.3	-	6	908	c.826C>T	c.(826-828)Cat>Tat	p.H276Y	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.H276Y	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	276	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTCACATGAACAGCTTTG	0.398000			"""Mis, O"""		"""AML, ALL"""									73			11		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	G	G	rs149119138	by1000genomes	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542000														89			5		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15175054	15175054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:15175054C>T	uc003zlr.2	-	18	1958	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	TTC39B_uc003zlq.2_Missense_Mutation_p.E544K|TTC39B_uc011lmp.2_Missense_Mutation_p.E476K|TTC39B_uc010mie.2_Missense_Mutation_p.E639K|TTC39B_uc011lmr.2_Missense_Mutation_p.E572K|TTC39B_uc011lmq.2_Missense_Mutation_p.E628K|TTC39B_uc003zlp.2_Missense_Mutation_p.E158K	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	575							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTGTCAATTTCCCCCTGGCTT	0.408000														84			5		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982111	176982111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:176982111G>A	uc002ukj.3	+	0	620	c.550G>A	c.(550-552)Ggc>Agc	p.G184S		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	184						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAACCCTCGTGGCGCGGCCAA	0.582000														68			14		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086496	46086496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:46086496G>A	uc002zfu.3	-	0	349	c.308C>T	c.(307-309)tCc>tTc	p.S103F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	103	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CACGCACAGGGAGGACTGGCA	0.642000														89			4		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38691179	38691179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38691179G>A	uc021yzh.1	+	2	566	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATATATTTGAAATTCTAGC	0.318000														129			9		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074122	8074122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:8074122C>T	uc001qtr.3	-	9	1640	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	460					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.E459D(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CGTGTGATATCCTCAAAAGTC	0.502000														160			7		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932528	79932528	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:79932528T>C	uc004edt.3	-	40	5252	c.4989A>G	c.(4987-4989)agA>agG	p.R1663R	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Silent_p.R1492R|BRWD3_uc004edq.3_Silent_p.R1259R|BRWD3_uc010nmj.2_Silent_p.R1259R|BRWD3_uc004edr.3_Silent_p.R1333R|BRWD3_uc004eds.3_Silent_p.R1259R|BRWD3_uc004edo.3_Silent_p.R1259R|BRWD3_uc004edu.3_Silent_p.R1333R|BRWD3_uc004edv.3_Silent_p.R1259R|BRWD3_uc004edw.3_Silent_p.R1259R|BRWD3_uc004edx.3_Silent_p.R1259R|BRWD3_uc004edy.3_Silent_p.R1259R|BRWD3_uc004edz.3_Silent_p.R1333R|BRWD3_uc004eea.3_Silent_p.R1333R|BRWD3_uc004eeb.3_Silent_p.R1259R	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1663	Gly-rich.							p.R1663I(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTCCAATTTCTTTTTCCAT	0.468000														79			15		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136406	103136406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:103136406C>T	uc002tbz.4	+	8	2267	c.1810C>T	c.(1810-1812)Cgg>Tgg	p.R604W		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	604					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTACCAAGTTCGGCAAAGGGT	0.463000														56			3		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638937	55638937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55638937G>A	uc003pcq.3	-	3	1649	c.937C>T	c.(937-939)Cga>Tga	p.R313*	BMP5_uc011dxf.2_Nonsense_Mutation_p.R313*	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	313					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R313*(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCACGGATCGAAGAAGTACC	0.458000														81			11		0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55742462	55742462	+	Silent	SNP	G	A	A	rs145991721		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:55742462G>A	uc002adc.3	-	5	1109	c.741C>T	c.(739-741)ttC>ttT	p.F247F	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.F247F|DYX1C1_uc002add.3_Silent_p.F247F	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	247					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GAGCTGTTGGGAATACTCGAG	0.348000														95			9		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836819	23836819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:23836819G>A	uc002nri.3	-	3	1098	c.916C>T	c.(916-918)Cat>Tat	p.H306Y		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	306					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCCAGTATGAATTTTTTTA	0.368000														67			6		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443930	5443930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5443930G>A	uc010qzd.2	+	0	590	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167*(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCAAGCGACTGCCTTTC	0.517000														232			17		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694441	6694441	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6694441C>T	uc002mfm.3	-	24	3216	c.3154_splice	c.e24+1	p.G1052_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1052					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGGGAGCCCACCCTTCTTGAT	0.627000														56			6		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3137042	3137042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:3137042G>A	uc011ask.2	-	8	1440	c.796C>T	c.(796-798)Cca>Tca	p.P266S	IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.P266S|IL5RA_uc011asl.2_Missense_Mutation_p.P266S|IL5RA_uc011asm.1_Missense_Mutation_p.P266S|IL5RA_uc010hbt.2_Missense_Mutation_p.P266S|IL5RA_uc011asn.1_Missense_Mutation_p.P266S|IL5RA_uc010hbu.2_Missense_Mutation_p.P266S|IL5RA_uc010hbp.3_5'Flank	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	266					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAATGGATTGGAAAAGCAGAC	0.353000														45			3		0	0	1	0	0
PCNP	57092	broad.mit.edu	37	3	101311501	101311501	+	Silent	SNP	C	T	T	rs17851951		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:101311501C>T	uc003dva.3	+	4	459	c.441C>T	c.(439-441)tcC>tcT	p.S147S	PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Non-coding_Transcript|PCNP_uc003dvd.3_Missense_Mutation_p.L129F	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.	147					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						GACCAAACTCCTTCAATAAAG	0.333000														82			4		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132750	52132750	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:52132750G>A	uc002pxe.3	-	2	700	c.561C>T	c.(559-561)ccC>ccT	p.P187P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	187	Ig-like C2-type 1.				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)		CGGGGTCCAGGGGGCTGAGGG	0.657000														13			3		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663482	34663482	+	Missense_Mutation	SNP	C	T	T	rs145927354	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34663482C>T	uc001bxt.3	+	1	1815	c.977C>T	c.(976-978)gCt>gTt	p.A326V	C1orf94_uc001bxs.4_Missense_Mutation_p.A136V	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	136							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGCCCAAGGCTGACCCTGCT	0.607000														56			5		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142841169	142841169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:142841169C>T	uc003evm.3	+	1	2450	c.1511C>T	c.(1510-1512)gCc>gTc	p.A504V	CHST2_uc021xex.1_Missense_Mutation_p.A504V	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	504					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.A504A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAGCCCATGGCCGTCCTGGGC	0.607000														75			5		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728628	50728628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:50728628G>A	uc003bkv.4	-	2	479	c.386C>T	c.(385-387)tCc>tTc	p.S129F		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	129	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)		CAGGCGGAGGGAGATGTTGCT	0.652000														41			3		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044108	71044108	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:71044108G>A	uc002shf.3	-	3	482	c.405C>T	c.(403-405)ctC>ctT	p.L135L	CLEC4F_uc010yqv.1_Silent_p.L135L	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	135					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CGAGCACCTGGAGCTGCGAAT	0.458000														151			11		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	58493	58493	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrGL000209.1:58493C>T	uc002qud.4	+	2	370	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Silent_p.F55F|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Silent_p.F99F|KIR2DL2_uc002quc.4_Silent_p.F60F|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Silent_p.F99F|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Silent_p.F99F|KIR2DL2_uc002qug.4_Silent_p.F60F|KIR2DL2_uc010evf.3_5'Flank	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	58	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTAACATCTTCACGCTGTACA	0.552000														35			10		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70889118	70889118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70889118G>A	uc002ezr.3	-	72	12504	c.12353C>T	c.(12352-12354)tCc>tTc	p.S4118F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4119								p.S4070F(1)		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)				GTCCTGGAAGGAAAAATCGAA	0.527000														65			5		0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49353297	49353297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:49353297C>T	uc002its.3	+	5	831	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA.	261					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CAGTTCCATCCCGGTGCACAG	0.383000														55			5		0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59623392	59623392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:59623392C>T	uc001noj.2	-	5	985	c.887G>A	c.(886-888)gGa>gAa	p.G296E		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	296					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)	GAAGGTCTTTCCCATCAGGGC	0.453000														60			7		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673247	141673247	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141673247G>A	uc003vwx.1	-	0	327	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	81					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCAACTTCTGGAAGTGGGTAA	0.527000														177			15		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010315	24010315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:24010315G>A	uc002nrn.3	+	3	775	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	118					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.E118K(2)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGCCTTCTGGGAGCCACGGCT	0.562000														68			5		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877577	31877578	+	Nonsense_Mutation	DNP	CG	TA	TA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:31877577_31877578CG>TA	uc003tcm.2	-	9	1449_1450	c.988_989CG>TA	c.(988-990)cga>TAa	p.R330*	PDE1C_uc003tcn.1_Nonsense_Mutation_p.R330*|PDE1C_uc003tco.2_Nonsense_Mutation_p.R390*|PDE1C_uc003tcr.3_Nonsense_Mutation_p.R330*|PDE1C_uc003tcs.3_Nonsense_Mutation_p.R330*	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(6)|p.R390Q(2)		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)			TACCAAGGTTCGAAACTCCCTT	0.391000														109			15		0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68007774	68007774	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:68007774C>T	uc003xxi.3	+	7	893	c.862C>T	c.(862-864)Cta>Tta	p.L288L	CSPP1_uc003xxg.1_Silent_p.L280L|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Silent_p.L253L|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	288						centrosome|microtubule|spindle		p.D288Y(1)		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)			CATTTCCAACCTAAAACATCA	0.373000														54			6		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138651672	138651672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:138651672G>A	uc011mdq.2	+	10	1076	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	KCNT1_uc011mdr.2_Missense_Mutation_p.M161I|KCNT1_uc010nbf.3_Missense_Mutation_p.M289I|KCNT1_uc004cgo.1_Missense_Mutation_p.M83I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	334						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGGTCATCATGATCTGCGTGG	0.632000														58			7		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51393609	51393609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:51393609C>T	uc011bds.2	+	41	4362	c.4339C>T	c.(4339-4341)Cgc>Tgc	p.R1447C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1447	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGCTTCTATCGCGTCAACAA	0.478000														71			6		0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183606036	183606036	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:183606036C>G	uc002uow.1	+	12	1559	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.P336A|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	382					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCAAATGATCCTGAGCTGAA	0.308000														26			4		0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30124660	30124660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:30124660G>A	uc003agl.3	+	2	365	c.295G>A	c.(295-297)Gga>Aga	p.G99R		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	99	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.G99E(1)		lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			GACCCTTCTGGGACCCAAACT	0.577000														76			7		0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43825729	43825729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43825729G>A	uc001cix.3	+	4	618	c.517G>A	c.(517-519)Gac>Aac	p.D173N	CDC20_uc001ciy.3_Missense_Mutation_p.D173N	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	173					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)				TTCCCTGCCAGACCGTATCCT	0.522000														305			37		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619375	71619375	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:71619375G>A	uc003xyq.3	+	3	1014	c.480G>A	c.(478-480)gcG>gcA	p.A160A	XKR9_uc010lzd.3_Silent_p.A28A|XKR9_uc010lze.3_Silent_p.A160A	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	160						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ATGGACAAGCGAATTTCAGTC	0.398000														81			11		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460720	142460720	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142460720G>A	uc003wak.2	+	5	609	c.592_splice	c.e5-1	p.G198_splice	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_uc003wam.2_Splice_Site_p.G138_splice	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	198	Peptidase S1.				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)			TCCCCCCAGGGTGATTCTGGT	0.527000														94			32		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893122	23893122	+	Silent	SNP	C	T	T	rs141191984		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23893122C>T	uc001wjx.3	-	22	3022	c.2916G>A	c.(2914-2916)gaG>gaA	p.E972E		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	972					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)		TTACCTTGTTCTCTGTTGCGT	0.547000														85			13		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140269450	140269450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:140269450C>T	uc010lnk.3	-	6	2055	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G512E|DENND2A_uc003vvw.3_Missense_Mutation_p.G512E|DENND2A_uc003vvx.3_Missense_Mutation_p.G512E	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	512										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTACCTTTTCCTGAGTTGCT	0.527000														240			8		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6916361	6916361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6916361G>A	uc002mfw.3	+	11	1440	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	EMR1_uc010dvc.3_Missense_Mutation_p.E468K|EMR1_uc010dvb.3_Missense_Mutation_p.E416K|EMR1_uc010xji.2_Missense_Mutation_p.E327K|EMR1_uc010xjj.2_Missense_Mutation_p.E291K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	468	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTCCACAATTGAGGAATCTGA	0.438000														143			9		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124979498	124979498	+	Silent	SNP	G	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:124979498G>T	uc004blx.4	-	4	603	c.531C>A	c.(529-531)cgC>cgA	p.R177R	LHX6_uc022bmw.1_5'UTR|LHX6_uc010mvw.3_Silent_p.R148R|LHX6_uc022bmx.1_Silent_p.R166R|LHX6_uc004bly.4_Silent_p.R177R	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	148	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667000														77			16		3.41278e-10	3.44958e-10	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3665244	3665244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3665244C>T	uc002fwo.4	-	3	379	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	94					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACGGTCACTCCCCGGTGCCTC	0.632000														42			4		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167852753	167852753	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:167852753G>A	uc001ger.3	-	8	1240	c.942C>T	c.(940-942)atC>atT	p.I314I	ADCY10_uc010plj.2_Silent_p.I161I|ADCY10_uc009wvk.3_Silent_p.I222I|ADCY10_uc009wvl.3_Silent_p.I313I|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	314	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	p.I314I(2)|p.A313T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGCATCCTGGATGGCTGGGC	0.448000														105			6		0	0	1	0	0
MGST1	4257	broad.mit.edu	37	12	16507210	16507210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:16507210G>A	uc001rdh.3	+	1	167	c.24G>A	c.(22-24)atG>atA	p.M8I	MGST1_uc001rdf.3_Missense_Mutation_p.M8I|MGST1_uc001rdg.3_Missense_Mutation_p.M8I|MGST1_uc009zih.1_Intron|MGST1_uc001rdi.3_Missense_Mutation_p.M8I	NM_145791	NP_665735	P10620	MGST1_HUMAN	Homo sapiens microsomal glutathione S-transferase 1 (MGST1), transcript variant 1c, mRNA.	8					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	CCCAGGTAATGGATGATGAAG	0.318000														30			5		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327137	43327137	+	Missense_Mutation	SNP	G	A	A	rs146922306		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr21:43327137G>A	uc002yzw.3	-	9	1524	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	C2CD2_uc002yzt.3_Missense_Mutation_p.R44C|C2CD2_uc002yzu.3_Missense_Mutation_p.R260C|C2CD2_uc002yzv.3_Missense_Mutation_p.R273C|C2CD2_uc002yzx.1_Missense_Mutation_p.R273C	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	428						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACGTCGACGCGAGGCTTGGTC	0.592000														87			17		0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923970	92923970	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:92923970C>T	uc003kkj.3	+	1	2498	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	NR2F1_uc021ybj.1_Silent_p.L220L|NR2F1_uc021ybk.1_Silent_p.L246L	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	271					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTCTATGCCGCTGCACGTGGC	0.667000														63			9		0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68268011	68268011	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:68268011C>T	uc010cfa.1	-	3	516	c.328_splice	c.e3-1	p.F110_splice	ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Splice_Site_p.F110_splice	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	110					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCTGTGAGAACTGGGGATAGG	0.602000														14			3		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84558914	84558914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:84558914C>T	uc002bjz.4	+	10	1350	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P376S	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	376						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGTAGTTCCTGACCATTA	0.408000														113			16		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82544905G>A	uc003uhx.2	-	6	12686	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					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						GTCCCTCTACGAAATTCCTGT	0.408000														42			6		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285683	248285683	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:248285683C>T	uc001idy.1	+	0	246	c.246C>T	c.(244-246)atC>atT	p.I82I						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TCTCCTGGATCCTGGGCTCTA	0.448000														150			13		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542102	46542102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:46542102C>T	uc003cps.1	+	1	480	c.412C>T	c.(412-414)Cct>Tct	p.P138S		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	138					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AGAGGAGGTTCCTATGATCAA	0.458000														91			4		0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35278413	35278413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:35278413C>T	uc003okk.3	+	2	454	c.415C>T	c.(415-417)Cct>Tct	p.P139S	DEF6_uc010jvs.3_Missense_Mutation_p.P139S|DEF6_uc010jvt.3_5'UTR	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	139						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GATCATGGTTCCTGATGAGGT	0.527000														96			7		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696146	107696146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:107696146C>T	uc010ljo.1	-	24	3770	c.3686G>A	c.(3685-3687)aGg>aAg	p.R1229K	LAMB4_uc003vey.2_Missense_Mutation_p.R1229K|LAMB4_uc010ljp.1_Missense_Mutation_p.R198K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1229	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTCAAAATCCTTTCTATTTC	0.408000														75			7		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69693672	69693672	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:69693672C>T	uc002exm.2	+	5	1521	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	NFAT5_uc002exj.2_Silent_p.V319V|NFAT5_uc002exk.2_Silent_p.V319V|NFAT5_uc002exl.2_Silent_p.V413V|NFAT5_uc002exn.2_Silent_p.V413V|NFAT5_uc002exh.2_Silent_p.V189V|NFAT5_uc002exi.3_Silent_p.V319V	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	395	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGCTGATGTCGAAGCCAGAA	0.373000														100			14		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:35478537C>T	uc003anj.3	+	1	1207	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000														134			29		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	228004921	228004921	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:228004921T>C	uc021vxr.1	-	2	249	c.148A>G	c.(148-150)Aga>Gga	p.R50G	COL4A4_uc021vxs.1_Missense_Mutation_p.R50G	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	50	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.R50I(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAGCAATCTCTTCCTCCACAA	0.413000														94			7		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32931962	32931962	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:32931962G>A	uc003cff.3	+	3	1329	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	422					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAGGTCCTGGAGGAGGGTA	0.617000														55			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045750	9045750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9045750C>T	uc002mkp.3	-	4	36085	c.35881G>A	c.(35881-35883)Gga>Aga	p.G11961R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11963	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						GGACTCACTCCTTCTCCATGA	0.478000														88			6		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828306	150828306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:150828306C>T	uc004fev.4	+	9	1171	c.839C>T	c.(838-840)cCa>cTa	p.P280L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	280						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAATCTCCAGGTAGGTAC	0.373000														43			5		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138878534	138878534	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:138878534G>A	uc004faz.3	-	11	1212	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F371F	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	371					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCCCAAGAATTTCTGCA	0.368000														30			3		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95845936	95845936	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:95845936C>T	uc002suf.3	+	3	655	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	ZNF2_uc002sug.3_Nonsense_Mutation_p.Q23*|ZNF2_uc010yue.2_Intron|ZNF2_uc010fhs.3_Intron	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q65Q(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGTGATTTTCCAATTGAAGAG	0.463000														124			11		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153956	37153956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:37153956C>T	uc001wtz.2	-	7	1088	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SLC25A21_uc021rsf.1_Missense_Mutation_p.E260K	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	260					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TACCCTTCTTCCTGATAGACT	0.393000														154			7		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318344	30318344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:30318344C>T	uc009xle.2	-	2	870	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	KIAA1462_uc001iux.3_Missense_Mutation_p.E245K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E107K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	245								p.T244A(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGGGAATTTCCGTGCAACTC	0.458000														154			9		0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2381128	2381128	+	Silent	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:2381128T>A	uc002fut.3	-	2	328	c.180A>T	c.(178-180)ctA>ctT	p.L60L	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Silent_p.L60L|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_5'UTR	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	60							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AATCTTCCCTTAGGAGAGTAC	0.393000														117			17		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70995872	70995872	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:70995872G>A	uc002ezr.3	-	37	6106	c.5955C>T	c.(5953-5955)atC>atT	p.I1985I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1986										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)				TTTGGAAAATGATTTTTTCCA	0.433000														37			4		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57144329	57144329	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:57144329G>A	uc003dil.3	-	3	410	c.321C>T	c.(319-321)ttC>ttT	p.F107F	IL17RD_uc003dik.3_Silent_p.F83F|IL17RD_uc010hna.3_5'UTR|IL17RD_uc011bex.1_5'UTR	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	107						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ATCCTTTCAGGAATTCGATGC	0.423000														12			3		0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62148676	62148676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:62148676C>T	uc001sqw.3	-	2	1818	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Missense_Mutation_p.R79Q|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	79						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGGAGCAGCTCGCGTGGTGCC	0.502000														39			5		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902995	74902995	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:74902995C>T	uc002sna.1	+	11	1713	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	SEMA4F_uc010ffq.1_Silent_p.F501F|SEMA4F_uc010ffr.1_Silent_p.F146F|SEMA4F_uc002snb.1_Silent_p.F146F|SEMA4F_uc002snc.1_Silent_p.F379F	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	534	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCTGGAGCTTCCGGCTGGATG	0.592000														68			11		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55423579	55423579	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55423579C>T	uc002qib.2	+	5	764	c.726C>T	c.(724-726)ctC>ctT	p.L242L	NCR1_uc002qic.2_Silent_p.L241L|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Silent_p.L147L|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Silent_p.L135L	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	242					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AGACGGGACTCCAGAAAGGTA	0.517000														136			24		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23235552	23235553	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23235552_23235553CC>TT	uc009vqj.1	+	12	2535_2536	c.2390_2391CC>TT	c.(2389-2391)gcc>gTT	p.A797V	EPHB2_uc001bge.3_Missense_Mutation_p.A798V|EPHB2_uc001bgf.3_Missense_Mutation_p.A797V|EPHB2_uc010odu.2_Missense_Mutation_p.A739V	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	797	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCCGGAAGCCATCCAGTACC	0.589000														103			16		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935574	94935574	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:94935574G>A	uc001ydf.3	-	1	819	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	SERPINA9_uc001yde.3_Silent_p.L120L|SERPINA9_uc010avc.3_Silent_p.L71L|SERPINA9_uc001ydg.3_Silent_p.L184L|SERPINA9_uc001ydh.1_Silent_p.L220L|SERPINA9_uc001ydi.1_Silent_p.L184L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	202					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGGTTCACCAGAACCATGGCC	0.388000														100			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370525	126370525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126370525C>T	uc003ifj.4	+	8	8354	c.8354C>T	c.(8353-8355)tCc>tTc	p.S2785F	FAT4_uc011cgp.2_Missense_Mutation_p.S1083F|FAT4_uc003ifi.1_Missense_Mutation_p.S263F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2785	Cadherin 27.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTGAAAATTCCCCCTTAGGA	0.363000														121			8		0	0	1	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882754	143882754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143882754C>T	uc010lpc.3	+	0	2207	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	720	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						AAGAGGACCTCCTTTCCCCCC	0.532000														231			9		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99505667	99505667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:99505667G>A	uc001vnt.2	-	34	3999	c.3944C>T	c.(3943-3945)tCt>tTt	p.S1315F	DOCK9_uc001vnw.2_Missense_Mutation_p.S1314F|DOCK9_uc021rlw.1_Missense_Mutation_p.S1314F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.S1315F|DOCK9_uc010tip.1_Missense_Mutation_p.S2F|DOCK9_uc010tiq.1_Missense_Mutation_p.S293F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1315					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.M1314K(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTACCATCAGACATGCTCTT	0.368000														153			14		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73753508	73753508	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:73753508C>G	uc002jpg.3	+	39	5528	c.5341C>G	c.(5341-5343)Ctg>Gtg	p.L1781V	ITGB4_uc002jph.3_Missense_Mutation_p.L1711V|ITGB4_uc002jpi.4_Missense_Mutation_p.L1711V|ITGB4_uc002jpj.3_Missense_Mutation_p.L1764V	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1781					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)			TGGGCTGACCCTGGGGGCCCA	0.652000														18			3		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202121	22202121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:22202121G>A	uc003svg.3	-	12	1176	c.863C>T	c.(862-864)tCa>tTa	p.S288L	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	138					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.I287V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CGGAACGTCTGAGTTTTCCTC	0.343000														50			8		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993543	21993543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21993543G>A	uc001wbe.3	-	1	601	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	SALL2_uc010tly.2_Missense_Mutation_p.P105S|SALL2_uc010tlz.1_Missense_Mutation_p.P105S|SALL2_uc001wbf.3_Missense_Mutation_p.P105S|SALL2_uc010tma.1_Missense_Mutation_p.P107S|SALL2_uc001wbg.1_Missense_Mutation_p.P107S	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	107							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGATCCGTGGGCACGGAGGAC	0.637000														82			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914588	54914588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:54914588G>A	uc021smr.1	+	28	6164	c.6164G>A	c.(6163-6165)gGa>gAa	p.G2055E	UNC13C_uc021sms.1_Missense_Mutation_p.G2057E|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2057	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCCACCCCAGGAACGGGAGAT	0.443000														65			5		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907790	43907790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:43907790C>T	uc001cjk.2	+	54	7775	c.5165C>T	c.(5164-5166)cCa>cTa	p.P1722L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2621						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGAGGAGACCAACACAGCAG	0.652000														56			5		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92191504	92191504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:92191504C>T	uc001xzs.1	-	2	228	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGCGTTTCTCTGTATCATCT	0.289000														32			3		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431605	38431605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:38431605G>A	uc003tgu.3	-	18	1838	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	AMPH_uc003tgv.3_Missense_Mutation_p.P499L|AMPH_uc003tgt.3_Missense_Mutation_p.P426L|AMPH_uc003tgw.1_Missense_Mutation_p.P564L|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	541					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GACCACCGAAGGAATGACCTT	0.572000														70			6		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033348	34033348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:34033348G>A	uc001bxm.1	-	52	8402	c.8225C>T	c.(8224-8226)cCt>cTt	p.P2742L	CSMD2_uc001bxn.1_Missense_Mutation_p.P2719L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2719	Sushi 18.					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)				AATGGGCTCAGGAGTCCCACA	0.532000														30			9		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101156521	101156521	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:101156521C>T	uc004ays.3	-	8	1774	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	438					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)	ACTCTCCCACCTTCACCTCCC	0.572000														79			21		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52695783	52695783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52695783C>T	uc010snq.2	+	1	216	c.83C>T	c.(82-84)aCc>aTc	p.T28I	KRT86_uc009zmg.3_Missense_Mutation_p.T28I|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.T28I	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	28	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTGCATCACCGCCGCCCCC	0.697000														39			4		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857458	9857458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:9857458C>T	uc010uym.2	-	13	4253	c.3943G>A	c.(3943-3945)Gac>Aac	p.D1315N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1315N|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1315					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTTCCCTGTCCTTGAGGCTT	0.512000														108			8		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136197	114136197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:114136197C>T	uc001kzu.3	+	0	242	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGATGCGGCCCCCTCGCAGGG	0.607000														90			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152522759	152522759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:152522759G>A	uc021vrb.1	-	38	4905	c.4876C>T	c.(4876-4878)Cac>Tac	p.H1626Y	NEB_uc002txu.3_Missense_Mutation_p.H1626Y|NEB_uc021vrc.1_Missense_Mutation_p.H1626Y|NEB_uc010fnx.3_Missense_Mutation_p.H1626Y|NEB_uc021vrd.1_Missense_Mutation_p.H1626Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1626					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGAGGTGTGTGGTACTTGGTC	0.473000														200			14		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171256768	171256768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:171256768C>T	uc002ufy.3	+	16	2005	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F	MYO3B_uc002ufv.3_Missense_Mutation_p.S608F|MYO3B_uc010fqb.1_Missense_Mutation_p.S621F|MYO3B_uc002ufz.3_Missense_Mutation_p.S621F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	621	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGCTATTTCCTCTCAACAT	0.403000														133			13		0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801117	3801117	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:3801117C>T	uc002fww.3	-	11	1632	c.1191G>A	c.(1189-1191)agG>agA	p.R397R		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	397					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATCAGGATGTCCTCATGTTCT	0.652000														63			6		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315833	50315833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:50315833C>T	uc001jhf.2	-	1	292	c.263G>A	c.(262-264)gGg>gAg	p.G88E	VSTM4_uc001jhh.2_Missense_Mutation_p.G88E	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	88	Ig-like.					integral to membrane|plasma membrane		p.G88W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCTGAAATTCCCATAGTACTG	0.627000														64			7		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72673412	72673412	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:72673412C>T	uc011mqk.2	+	1	562	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AAGATTGGAGCTGGAAAAGGA	0.403000														10			4		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198719	55198719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:55198719G>A	uc003pcm.1	+	2	379	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	98						integral to membrane	receptor activity	p.L97I(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACTGCTTGGAAAAAAATGT	0.294000														118			8		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005881	74005881	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74005881G>A	uc010wss.1	-	21	3699	c.3471C>T	c.(3469-3471)atC>atT	p.I1157I	EVPL_uc002jqi.2_Silent_p.I1135I|EVPL_uc010wst.1_Silent_p.I605I	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1135	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTCCTTCACGATGACCTTGG	0.642000														44			6		0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118425749	118425749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:118425749G>A	uc001pto.2	-	6	882	c.463C>T	c.(463-465)Cct>Tct	p.P155S	IFT46_uc001ptp.2_Missense_Mutation_p.P104S	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	104					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						ATAAAATCAGGAATGAAAGGC	0.423000														109			8		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43316484	43316484	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:43316484C>T	uc010dnk.3	+	6	924	c.702C>T	c.(700-702)ctC>ctT	p.L234L	SLC14A1_uc002lbi.4_Silent_p.L46L|SLC14A1_uc010xcn.2_Silent_p.L178L|SLC14A1_uc002lbf.4_Silent_p.L178L|SLC14A1_uc002lbg.4_Intron|SLC14A1_uc010xco.2_Silent_p.L73L|SLC14A1_uc002lbh.4_Silent_p.L70L|SLC14A1_uc002lbj.4_Silent_p.L234L|SLC14A1_uc002lbk.4_Silent_p.L178L|SLC14A1_uc021ujg.1_Silent_p.L178L	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	178						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTTCACCCTCCCTTTCAACA	0.433000														130			8		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39864652	39864652	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:39864652C>T	uc003oow.3	+	19	2545	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	DAAM2_uc003oox.3_Silent_p.I802I	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	802	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TAGAGGTCATCCTAGCCATAG	0.612000														30			6		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74695435	74695435	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:74695435G>A	uc001jtf.1	-	3	595	c.528C>T	c.(526-528)ccC>ccT	p.P176P	PLA2G12B_uc009xqt.1_Silent_p.P86P|PLA2G12B_uc010qjz.1_Silent_p.P175P	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	176					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TATTCATAAAGGGGCGGCAGC	0.502000														91			7		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172972	51172972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:51172972C>T	uc021tif.1	-	1	3192	c.2870G>A	c.(2869-2871)cGa>cAa	p.R957Q	SALL1_uc021tid.1_Missense_Mutation_p.R957Q|SALL1_uc021tie.1_Missense_Mutation_p.R1054Q|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1054					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	p.R1054Q(1)		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)			TGGCAGATCTCGCATCTGATG	0.473000														48			3		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185177	53185177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53185177C>T	uc001say.3	-	6	1414	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	450	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.A449A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCATGCTGCTCGGCCTCGGCA	0.612000														99			8		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178391919	178391919	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:178391919C>T	uc003mjo.2	+	4	815	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	ZNF454_uc010jkz.2_Nonsense_Mutation_p.Q172*|ZNF454_uc021yjc.1_Nonsense_Mutation_p.Q172*	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	172					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)		TCAGGGATTTCAACCTAGCAA	0.413000														57			12		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249596	177249596	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:177249596G>A	uc001glf.3	+	7	1596	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	FAM5B_uc001glg.3_Silent_p.G323G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	428						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCTACTGTGGGGAAAGCACCT	0.542000														100			8		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791161	49791161	+	Missense_Mutation	SNP	C	G	G	rs137922552		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:49791161C>G	uc001jgu.3	-	1	368	c.71G>C	c.(70-72)cGg>cCg	p.R24P	ARHGAP22_uc001jgt.3_Missense_Mutation_p.R24P|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R24P|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R30P|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	24					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCAGGGCTCCGGCTCTGCTC	0.637000														244			24		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39672454	39672454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39672454C>T	uc002hwy.3	-	3	993	c.802G>A	c.(802-804)Ggt>Agt	p.G268S	KRT15_uc002hwz.3_Missense_Mutation_p.G170S|KRT15_uc002hxa.3_Missense_Mutation_p.G103S|KRT15_uc002hxb.1_Missense_Mutation_p.G103S	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	268	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGGTCCACACCCGGTGCTGCG	0.622000														502			40		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113382387	113382387	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:113382387G>A	uc001tug.3	+	2	654	c.567G>A	c.(565-567)agG>agA	p.R189R	OAS3_uc001tuf.3_Silent_p.R189R	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	189	OAS domain 1.				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						AGCTGCGGAGGAACTTTGTGA	0.567000														81			8		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274432	233274432	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:233274432C>T	uc002vss.4	+	10	1502	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	483					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCATGGCCTTCGCCGCCTGCC	0.751000														21			3		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12907865C>T	uc010obf.2	-	1	504	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LOC649330_uc009vno.2_Missense_Mutation_p.G93E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	93							nucleic acid binding|nucleotide binding										ACCTGCGTTTCCTCGGTTCAC	0.483000														169			6		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350306	100350306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100350306C>T	uc003uwj.3	+	13	2743	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S	ZAN_uc003uwk.3_Missense_Mutation_p.P860S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	860	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCCCCACAGAAAA	0.488000														131			6		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422880	42422880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:42422880G>A	uc003bbt.3	+	5	719	c.625G>A	c.(625-627)Gga>Aga	p.G209R	WBP2NL_uc011apk.2_Missense_Mutation_p.G81R|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	209	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	p.V208A(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCGCCTGTGGGATACAGAGC	0.622000														219			66		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481048	140481049	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140481048_140481049GA>AG	uc003lio.3	+	0	815_816	c.815_816GA>AG	c.(814-816)gga>gAG	p.G272E	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	272	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATACAGGAAGTTTTGGGA	0.406000														108			10		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46383995	46383995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:46383995C>T	uc002ldd.3	+	11	1929	c.1570C>T	c.(1570-1572)Ctt>Ttt	p.L524F	CTIF_uc002ldc.3_Missense_Mutation_p.L522F|CTIF_uc002lde.4_Missense_Mutation_p.L151F	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	522	MIF4G.				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						AGATGCTGTCCTTTGCTGCTC	0.547000														128			14		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761187	92761187	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92761187G>A	uc003umh.1	-	4	5314	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F	SAMD9L_uc003umj.1_Silent_p.F1366F|SAMD9L_uc003umi.1_Silent_p.F1366F|SAMD9L_uc010lfb.1_Silent_p.F1366F|SAMD9L_uc003umk.1_Silent_p.F1366F|SAMD9L_uc010lfc.1_Silent_p.F1366F|SAMD9L_uc010lfd.1_Silent_p.F1366F|SAMD9L_uc022ahh.1_Silent_p.F1366F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1366										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTGCAGTAGGAAGGCATATT	0.383000														106			11		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37626154	37626154	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:37626154G>A	uc003onu.1	-	2	1428	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	83	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATGTCTCCTGGAACTTGTCCG	0.657000														104			15		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60744152	60744152	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:60744152C>T	uc002jad.3	+	4	1296	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	298	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCTGTGGATCGGCTTGAATG	0.642000														50			9		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699707	136699707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:136699707C>T	uc003vtf.1	+	3	718	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CHRM2_uc003vtg.1_Missense_Mutation_p.S32F|CHRM2_uc003vti.1_Missense_Mutation_p.S32F|CHRM2_uc003vtm.1_Missense_Mutation_p.S32F|CHRM2_uc003vtj.1_Missense_Mutation_p.S32F|CHRM2_uc003vtk.1_Missense_Mutation_p.S32F|CHRM2_uc003vtl.1_Missense_Mutation_p.S32F|CHRM2_uc003vtn.1_Missense_Mutation_p.S32F|CHRM2_uc003vto.1_Missense_Mutation_p.S32F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S32F	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	32					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGGCTGGATCCCTCAGTTTG	0.423000														68			7		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582780	120582780	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:120582780A>G	uc001txo.3	-	39	5115	c.5102T>C	c.(5101-5103)aTg>aCg	p.M1701T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1701					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTGTCTCCATCAGCCACGG	0.607000														77			6		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264536	42264536	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:42264536C>T	uc003cky.3	+	15	2385	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S	TRAK1_uc011azi.2_Silent_p.S702S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	723					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGGCTGAGTCCTTCACTAACA	0.607000														93			9		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52240815	52240815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:52240815C>T	uc003jou.3	+	26	3742	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.R641W	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	1110					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GGGAGAACTTCGGAGTGAAAA	0.323000														199			8		0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114102	66114102	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:66114102G>A	uc001ohr.3	-	0	1060	c.915C>T	c.(913-915)gtC>gtT	p.V305V	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	305					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCGGCAGGTTGACCCAGCGGG	0.627000														86			8		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55980371	55980371	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:55980371T>A	uc003has.3	-	5	1022	c.720A>T	c.(718-720)gaA>gaT	p.E240D	KDR_uc003hat.1_Missense_Mutation_p.E240D|KDR_uc011bzx.2_Missense_Mutation_p.E240D	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	240	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGACAAGCTTTTCTCCAACAG	0.393000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				60			4		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88696643	88696643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:88696643C>T	uc001kea.3	-	6	2834	c.2707G>A	c.(2707-2709)Ggg>Agg	p.G903R	MMRN2_uc010qmn.2_Missense_Mutation_p.G546R	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	903	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CTTCCACTCCCCTGCCCAGTG	0.557000														310			29		0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73188340	73188340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:73188340G>A	uc002siq.3	-	12	996	c.865C>T	c.(865-867)Cct>Tct	p.P289S	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Missense_Mutation_p.P181S|SFXN5_uc010yrc.2_Missense_Mutation_p.P138S|SFXN5_uc010fet.3_Silent_p.S221S|SFXN5_uc010fer.3_Intron|SFXN5_uc010feq.3_Missense_Mutation_p.P71S|SFXN5_uc010fes.3_Missense_Mutation_p.P71S	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	289					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTTTGCACAGGGAGGAGCAGC	0.682000														37			5		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30926546	30926546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:30926546G>A	uc009yjk.1	-	18	2683	c.2614C>T	c.(2614-2616)Cgt>Tgt	p.R872C	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.R531C|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	503					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						TTCCCATTACGATACCCATCC	0.458000														69			8		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576152	12576152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:12576152G>A	uc002mtv.4	-	3	745	c.584C>T	c.(583-585)cCt>cTt	p.P195L	ZNF709_uc002mtw.4_Missense_Mutation_p.P163L|ZNF709_uc002mtx.4_Missense_Mutation_p.P195L	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTCATAAGGTTTCTCTCC	0.408000														90			8		0	0	1	0	0
FAM58A	92002	broad.mit.edu	37	X	152860004	152860004	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:152860004C>T	uc011myr.2	-	4	528	c.417_splice	c.e4+1	p.K139_splice	FAM58A_uc011mys.2_Splice_Site_p.K139_splice	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	143					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATGTACCTTGTGTGGA	0.542000														66			18		0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652141	15652141	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:15652141C>T	uc003stc.3	-	2	1067	c.786G>A	c.(784-786)gtG>gtA	p.V262V		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	262					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V262M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTCCCTTTTTCACATTCACCA	0.517000														126			15		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844913	92844913	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:92844913C>T	uc011khy.2	-	3	608	c.585G>A	c.(583-585)gtG>gtA	p.V195V	HEPACAM2_uc003uml.3_Silent_p.V160V|HEPACAM2_uc010lff.3_Silent_p.V160V|HEPACAM2_uc003umm.3_Silent_p.V172V	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	172	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGCCCCCTTCCACATGGCATG	0.507000														52			5		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169558057	169558057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:169558057C>T	uc003fgc.1	-	8	1437	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	LRRC31_uc010hwp.1_Missense_Mutation_p.D402N	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	458										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TAGCTCAGGTCCAGCTTTTGC	0.483000														49			3		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812805	141812805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141812805C>T	uc002tvj.1	-	9	2404	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	478					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D478N(2)		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)		CCATATGGATCGACTTCACAT	0.428000										TSP Lung(27;0.18)				41			3		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874996	144874996	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:144874996G>A	uc003yzp.1	-	29	4066	c.4059C>T	c.(4057-4059)tcC>tcT	p.S1353S	SCRIB_uc003yzn.1_Silent_p.S62S|SCRIB_uc003yzo.1_Silent_p.S1353S	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1353					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCCCGGAAGGACAGCTGCT	0.706000														34			6		0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654189	61654189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:61654189C>T	uc002ljv.3	+	6	971	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	SERPINB8_uc002lju.3_Missense_Mutation_p.L268F|SERPINB8_uc010xex.2_Missense_Mutation_p.L86F	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	268					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TCAAGTTTTCCTTCCCAGATT	0.398000														88			8		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013074	142013074	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142013074C>T	uc003vxg.3	+	0	68	c.39C>T	c.(37-39)ctC>ctT	p.L13L	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTCTCTGTCTCCTGGGAGCAG	0.582000														81			12		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346903	48346903	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:48346903C>T	uc010rhv.2	+	0	411	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGTTGAGATCATTCTGCTCA	0.478000														185			9		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350371	7350371	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7350371G>A	uc002ghb.3	+	4	404	c.363G>A	c.(361-363)ggG>ggA	p.G121G	CHRNB1_uc010vty.2_Silent_p.G49G|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	121					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GCAATGATGGGAATTTTGACG	0.667000														103			12		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568504	223568504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:223568504G>A	uc001hoa.2	+	0	1790	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	563										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGGCATCAAGGAGGCCATTAA	0.532000														58			7		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114490225	114490225	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:114490225C>A	uc004bfr.3	-	10	1465	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Nonsense_Mutation_p.E405*|C9orf84_uc010mug.3_Nonsense_Mutation_p.E390*	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	444								p.N444N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGGTACTTCTTTTGCCAGA	0.333000														28			3		0.0215528	0.0216132	1	1	0
GRM8	2918	broad.mit.edu	37	7	126249424	126249424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:126249424G>A	uc003vlr.2	-	6	1797	c.1486C>T	c.(1486-1488)Cat>Tat	p.H496Y	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.H496Y|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	496					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTTTTAGATGAAGCTGATTG	0.363000										HNSCC(24;0.065)				186			16		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714906	91714906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:91714906C>T	uc003ulg.3	+	35	9155	c.8930C>T	c.(8929-8931)tCa>tTa	p.S2977L	AKAP9_uc003ulf.3_Missense_Mutation_p.S2969L|AKAP9_uc003uli.3_Missense_Mutation_p.S2600L|AKAP9_uc003ulj.3_Missense_Mutation_p.S747L|AKAP9_uc003ulk.3_Missense_Mutation_p.S252L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2981					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)			CAGCAGGTTTCAGAACCTTGG	0.428000			T	BRAF	papillary thyroid									42			5		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24135197	24135197	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:24135197G>A	uc002dmd.3	+	8	1157	c.960G>A	c.(958-960)aaG>aaA	p.K320K	PRKCB_uc002dme.3_Silent_p.K320K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	320					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CGGAAGAAAAGACGACCAACA	0.478000														55			6		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170223	58170223	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:58170223A>T	uc010rkf.2	-	0	660	c.660T>A	c.(658-660)ttT>ttA	p.F220L		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGATGGTGATAAAAATGAATG	0.393000														41			3		0	0	1	0	0
LRRC58	116064	broad.mit.edu	37	3	120053861	120053861	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120053861A>G	uc003edr.2	-	2	851	c.755T>C	c.(754-756)gTt>gCt	p.V252A		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	Homo sapiens leucine rich repeat containing 58 (LRRC58), mRNA.	252										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TAAATCTCTAACAAAACGAAC	0.398000														25			3		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465319	37465319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:37465319C>T	uc003aqt.1	-	15	1969	c.1907G>A	c.(1906-1908)gGa>gAa	p.G636E	TMPRSS6_uc003aqs.1_Missense_Mutation_p.G645E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	645	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGACACCTCTCCAGGCCAGCG	0.672000														35			14		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105969	168105969	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:168105969G>A	uc002udx.3	+	8	8156	c.8067G>A	c.(8065-8067)caG>caA	p.Q2689Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q2514Q|XIRP2_uc010fpq.3_Silent_p.Q2467Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2514					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						AAACACAACAGAAGAAGTATT	0.363000														79			12		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141796195	141796195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:141796195G>A	uc003vwy.3	+	41	5038	c.4984G>A	c.(4984-4986)Gtc>Atc	p.V1662I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1662	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)	AGCCTTCCTGGTCAGCCCTGT	0.582000														69			25		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41374853	41374853	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:41374853G>A	uc001rmm.1	+	15	2060	c.1947G>A	c.(1945-1947)tgG>tgA	p.W649*	CNTN1_uc001rmn.1_Nonsense_Mutation_p.W638*	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	649	Fibronectin type-III 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.W649fs*1(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGATGACTGGAAAGATGCAA	0.363000														74			5		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785798	111785798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:111785798C>T	uc001tsa.2	+	21	4284	c.4130C>T	c.(4129-4131)cCt>cTt	p.P1377L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1377	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CACCCGGACCCTTTAAGTTTT	0.622000														139			7		0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390996	49390996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:49390996C>T	uc001rsv.1	-	1	1681	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	555	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGTTTACTTCGGGGGCCGGG	0.731000														54			3		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182822	6182822	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:6182822A>T	uc002mef.1	+	8	1194	c.967A>T	c.(967-969)Att>Ttt	p.I323F	ACSBG2_uc002mee.1_Missense_Mutation_p.I136F|ACSBG2_uc002meg.1_Missense_Mutation_p.I323F|ACSBG2_uc002meh.1_Missense_Mutation_p.I323F|ACSBG2_uc002mei.1_Missense_Mutation_p.I273F|ACSBG2_uc010xiz.1_Missense_Mutation_p.I323F	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	323					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGCCTCAAATTTGGGAGAA	0.463000														33			4		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039077	75039077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:75039077C>T	uc001dgg.3	-	13	2536	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	773	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						TCCATTGCTTCTTTCTTCTCC	0.473000														63			4		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947980	145947980	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:145947980C>T	uc003zdv.4	-	4	1321	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	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)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGAAGGCCTTCCCACAGTGAC	0.493000														44			6		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541875	187541876	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:187541875_187541876GG>AA	uc003izf.3	-	9	6052_6053	c.5864_5865CC>TT	c.(5863-5865)tcc>tTT	p.S1955F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1955	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTGCCATCGGAAGCTCTAAC	0.450000										HNSCC(5;0.00058)				75			4		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097945	56097945	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:56097945G>A	uc002rzi.3	-	10	1731	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	EFEMP1_uc002rzj.3_Silent_p.I410I|EFEMP1_uc010ypc.2_Silent_p.I272I	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	410	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTATCTGGAAGATGTCTGATG	0.433000														87			6		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793142	21793142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:21793142G>A	uc001wag.3	+	13	2128	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E352K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.E175K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E185K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E93K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E69K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E27K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	710					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATGGCCAGTGAACACAGCAC	0.512000														146			11		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442555	138442555	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:138442555G>A	uc003ihe.4	-	3	3423	c.3036C>T	c.(3034-3036)ttC>ttT	p.F1012F	PCDH18_uc003ihf.4_Silent_p.F1004F|PCDH18_uc011cgz.2_Silent_p.F223F|PCDH18_uc003ihg.4_Silent_p.F791F|PCDH18_uc011cha.2_Silent_p.F192F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1012	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGAGACGCTGGAACACACTGC	0.532000														48			7		0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50392941	50392941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:50392941C>T	uc001rvt.2	-	10	1172	c.862G>A	c.(862-864)Gac>Aac	p.D288N	RACGAP1_uc009zlm.1_Missense_Mutation_p.D288N|RACGAP1_uc001rvs.2_Missense_Mutation_p.D288N|RACGAP1_uc001rvu.2_Missense_Mutation_p.D288N	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	288					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GAAACAAAGTCATGCAGGCGC	0.413000														59			11		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45778355	45778355	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:45778355G>A	uc002rus.3	-	11	1660	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	SRBD1_uc010yoc.2_Silent_p.L47L	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	528					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTGTTAAAAGGAGCTGACGAA	0.388000														46			4		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694920	247694920	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247694920C>T	uc021pmb.1	-	0	894	c.894G>A	c.(892-894)gtG>gtA	p.V298V	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.V298V	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGGCGCTCTTCACCTCCGTGT	0.532000														75			7		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022469	99022469	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99022469G>A	uc011kiw.2	-	6	1893	c.1833C>T	c.(1831-1833)gcC>gcT	p.A611A	ATP5J2-PTCD1_uc003uqh.3_Silent_p.A562A	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	611																	GGCACCCGATGGCCAGGTTGC	0.627000														77			12		0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52144205	52144205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:52144205G>A	uc003pan.1	-	4	834	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	MCM3_uc011dwu.1_Missense_Mutation_p.R196C	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	242					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGAAGGCAACGGTAGGTTCCC	0.552000														59			7		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055841	72055841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:72055841C>T	uc001xms.3	+	1	1613	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R418W|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R418W|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R418W	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	418					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			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)		TCCATATTTTCGGAATGAGAT	0.463000														44			5		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:121929509C>T	uc004bkc.2	-	7	2595	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		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						GCTGGGGTTTCCCCGGGGCCA	0.552000														95			21		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19495026	19495026	+	Silent	SNP	C	T	T	rs138627266		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19495026C>T	uc011aha.2	+	11	1116	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	CDC45_uc021wlg.1_Non-coding_Transcript|CDC45_uc011agz.1_Silent_p.F309F|CDC45_uc002zpr.3_Silent_p.F314F|CDC45_uc002zpt.3_Silent_p.F268F	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	314				E -> Q (in Ref. 1; AAC67521).	DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCCAGGAGTTCCTTGCAGACA	0.587000														90			9		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20055886	20055886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20055886C>T	uc002wru.3	+	4	539	c.425C>T	c.(424-426)tCc>tTc	p.S142F	C20orf26_uc010gcw.2_Missense_Mutation_p.S96F|C20orf26_uc010zse.2_Missense_Mutation_p.S142F|C20orf26_uc010zsf.1_Missense_Mutation_p.S142F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	142										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATCGTGCCATCCTACATGAGC	0.498000														88			6		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408800	178408800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:178408800G>A	uc003mjr.3	-	9	2671	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	GRM6_uc003mjq.3_Missense_Mutation_p.S234F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	831					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CATGCCGAGGGACACCGAGGC	0.577000														218			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141526904	141526904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:141526904G>A	uc002tvj.1	-	34	6608	c.5636C>T	c.(5635-5637)tCa>tTa	p.S1879L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1879					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)		CATAAGAAATGATTCTATACC	0.363000										TSP Lung(27;0.18)				50			5		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106477677	106477677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:106477677C>T	uc001tlj.1	-	3	1924	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	182	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AGTATATTTTCCAGCTTCAAG	0.498000														80			6		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623070	61623070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:61623070C>T	uc002jay.3	+	13	2872	c.2792C>T	c.(2791-2793)cCa>cTa	p.P931L	KCNH6_uc010wpl.2_Missense_Mutation_p.P772L|KCNH6_uc010wpm.2_Missense_Mutation_p.P895L|KCNH6_uc002jaz.1_Missense_Mutation_p.P842L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	931					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACTCTGGCACCATCCTCAGAA	0.572000														135			15		0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397950	125397950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:125397950C>T	uc003pzr.3	+	3	1258	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	RNF217_uc003pzs.3_Missense_Mutation_p.R185C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	185					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGCAAATATCGCTACCTCCC	0.438000														112			10		0	0	1	0	0
MS4A5	64232	broad.mit.edu	37	11	60201273	60201273	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60201273C>T	uc001npo.3	+	3	461	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 5 (MS4A5), mRNA.	125						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TTCTTAGTGCCCTGGGAGCAA	0.373000														149			11		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175228	55175228	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55175228C>T	uc002qgp.3	+	2	449	c.87C>T	c.(85-87)ccC>ccT	p.P29P	LILRB4_uc002qgo.1_Silent_p.P70P|LILRB4_uc002qgq.3_Silent_p.P29P|LILRB4_uc010ers.1_Intron|LILRB4_uc010ert.3_Silent_p.P70P|LILRB4_uc010eru.3_Silent_p.P58P	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	29	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TCCCCAAACCCACCCTCTGGG	0.622000														94			10		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39025308	39025308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:39025308C>T	uc003ooj.4	+	2	296	c.236C>T	c.(235-237)tCg>tTg	p.S79L	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	79					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GAGCCAGGCTCGTTCGTGAAT	0.622000														39			6		0	0	1	0	0
AV4S1	0	broad.mit.edu	37	14	22671208	22671208	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:22671208C>T	uc021rpv.1	+	1	263	c.228C>T	c.(226-228)atC>atT	p.I76I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		GTACCTTGATCCTGCACCGTG	0.522000														23			5		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942021	6942021	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:6942021C>T	uc002geh.3	+	2	1202	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	298						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TAGCCCTGTTCCCTGTAGCTC	0.642000														64			9		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069133	153069133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:153069133G>A	uc004fja.1	-	7	2253	c.2003C>T	c.(2002-2004)aCc>aTc	p.T668I	PDZD4_uc004fiy.1_Missense_Mutation_p.T587I|PDZD4_uc004fiz.1_Missense_Mutation_p.T662I|PDZD4_uc004fix.2_Missense_Mutation_p.T566I|PDZD4_uc011mze.1_Missense_Mutation_p.T553I|PDZD4_uc022chy.1_Missense_Mutation_p.T41I	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	662						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCGTCGTCGGTCGTCATACC	0.682000														47			14		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79628925	79628925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:79628925G>A	uc001jzk.3	-	1	405	c.335C>T	c.(334-336)cCc>cTc	p.P112L	DLG5_uc009xru.1_Non-coding_Transcript|AK125684_uc001jzm.1_3'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	112					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGAGTCTGAGGGCATGGTGGA	0.597000														97			6		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138587	205138587	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:205138587A>G	uc001hbw.3	-	2	1092	c.1028T>C	c.(1027-1029)tTg>tCg	p.L343S	DSTYK_uc001hbx.3_Missense_Mutation_p.L343S|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	343						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AAATGTGCTCAAGTGTCTCAG	0.527000														92			6		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324450	79324450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:79324450C>T	uc010mpk.3	-	7	2864	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	PRUNE2_uc022bih.1_Missense_Mutation_p.E736K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	914					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTACCTTTTCATATACCTTG	0.398000														143			16		0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39357683	39357683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39357683G>A	uc003awn.2	+	2	636	c.466G>A	c.(466-468)Gat>Aat	p.D156N	APOBEC3B_uc011aob.1_Missense_Mutation_p.D138N|APOBEC3B_uc011aoc.1_Missense_Mutation_p.D156N	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	339					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CATGACCTACGATGGTAAGAA	0.562000														80			8		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916897	42916897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:42916897C>T	uc003cmh.3	-	0	737	c.412G>A	c.(412-414)Gat>Aat	p.D138N	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	138					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCATTAAGATCCTTCAAGCCA	0.517000														121			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724001	140724001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140724001C>T	uc003ljm.2	+	0	401	c.401C>T	c.(400-402)cCa>cTa	p.P134L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.P134L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	134	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAATTTCCCAACAGAGGAA	0.333000														29			4		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720015	7720015	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:7720015T>C	uc002giu.1	+	62	9870	c.9856T>C	c.(9856-9858)Ttg>Ctg	p.L3286L	DNAH2_uc010cnm.1_Silent_p.L224L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGTGTCGGGGTTGGCTGGCGA	0.562000														98			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060189	9060189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9060189G>A	uc002mkp.3	-	2	27461	c.27257C>T	c.(27256-27258)cCt>cTt	p.P9086L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9088	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						TGTAGCCCCAGGAGAACCTGT	0.468000														111			8		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53307360	53307360	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:53307360G>A	uc001vhf.2	-	2	459	c.348C>T	c.(346-348)ttC>ttT	p.F116F	LECT1_uc001vhg.2_Silent_p.F116F|LECT1_uc001vhh.2_Silent_p.F143F	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	116	BRICHOS.		F -> L (in dbSNP:rs3742298).		cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTACATTCTGGAAATCATTAA	0.408000														142			11		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29654799	29654799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:29654799C>T	uc002hgg.3	+	37	5934	c.5551C>T	c.(5551-5553)Cct>Tct	p.P1851S	NF1_uc002hgh.3_Missense_Mutation_p.P1830S|NF1_uc002hgi.1_Missense_Mutation_p.P863S|NF1_uc010cso.3_Missense_Mutation_p.P39S	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1851					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAAGATGTCCCTGGGACACT	0.458000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				103			15		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43469811	43469811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:43469811G>A	uc002lbm.3	-	27	5004	c.4904C>T	c.(4903-4905)cCa>cTa	p.P1635L	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.P189L|EPG5_uc002lbn.2_Missense_Mutation_p.P510L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1635					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATTAAGTGATGGTGGTTTAGC	0.378000														101			10		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261109	23261109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:23261109G>A	uc001yvh.1	+	8	1083	c.541G>A	c.(541-543)Gag>Aag	p.E181K	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AATGTCGCAGGAGGTGAGATC	0.478000														134			19		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320978	46320978	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:46320978T>A	uc001rox.3	-	10	2793	c.2506A>T	c.(2506-2508)Aag>Tag	p.K836*	SCAF11_uc001row.3_Nonsense_Mutation_p.K521*|SCAF11_uc001roy.1_Nonsense_Mutation_p.K910*	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	836					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GACTCATTCTTAGGAGATGGT	0.478000														90			8		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28728487	28728487	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:28728487A>T	uc002kwn.3	-	5	1008	c.746T>A	c.(745-747)tTt>tAt	p.F249Y	DSC1_uc002kwm.3_Missense_Mutation_p.F249Y	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	249	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGGCACAGTAAAGATAGTCAC	0.353000														160			18		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24789026	24789026	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:24789026G>A	uc001wow.3	-	20	3074	c.2655C>T	c.(2653-2655)ttC>ttT	p.F885F	ADCY4_uc010toh.2_Silent_p.F571F|ADCY4_uc001wox.3_Silent_p.F885F|ADCY4_uc001woy.3_Silent_p.F885F	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	885					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATTCAGAGTAGAACTCCTTGA	0.488000														88			5		0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65351727	65351728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:65351727_65351728CC>TT	uc002aoi.1	-	2	404_405	c.189_190GG>AA	c.(187-192)gtggac>gtAAac	p.D64N	RASL12_uc002aoj.1_Missense_Mutation_p.D45N|RASL12_uc010uir.1_Missense_Mutation_p.D53N	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	64					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGCTGGTGGTCCACAGTCTCCT	0.525000														66			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681026	100681027	+	Missense_Mutation	DNP	GC	TG	TG			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100681026_100681027GC>TG	uc003uxp.1	+	2	6382_6383	c.6329_6330GC>TG	c.(6328-6330)agc>aTG	p.S2110M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2110	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)					ATACCTCTCAGCACCACGCCGG	0.490000														421			21		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55260515	55260515	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:55260515G>A	uc003tqk.3	+	21	2928	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	EGFR_uc022adm.1_Silent_p.Q894Q|EGFR_uc010kzg.2_Silent_p.Q849Q|EGFR_uc022adn.1_Silent_p.Q849Q|EGFR_uc011kco.2_Silent_p.Q841Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	894	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATACCCACCAGAGTGATGTCT	0.413000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				114			16		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439598	43439598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43439598C>T	uc002ovl.4	-	2	487	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	130	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				CCTCCAGTCCCATCACCTCGC	0.488000														330			63		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94129654	94129654	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:94129654C>G	uc001pet.2	-	1	596	c.424G>C	c.(424-426)Ggc>Cgc	p.G142R		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	142						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.K141N(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGCACATGCCCTTCCCAAAT	0.552000														85			7		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822875	19822875	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:19822875G>A	uc002nnk.1	-	3	1369	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTTCTCGAAGGGAACTTGAAA	0.378000														77			5		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040210	41040210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:41040210G>A	uc002ony.3	+	19	4405	c.4319G>A	c.(4318-4320)gGa>gAa	p.G1440E	SPTBN4_uc002onx.3_Missense_Mutation_p.G1440E|SPTBN4_uc002onz.3_Missense_Mutation_p.G1440E|SPTBN4_uc010egx.3_Missense_Mutation_p.G183E|SPTBN4_uc010egy.1_Missense_Mutation_p.G116E|SPTBN4_uc002ooa.3_Missense_Mutation_p.G116E|SPTBN4_uc010egz.1_Missense_Mutation_p.G116E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1440					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACCCTGGAGGAGACCTGGCC	0.587000														61			4		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001473	11001473	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:11001473C>T	uc002daj.4	+	10	2260	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	CIITA_uc002dai.4_Silent_p.F708F|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.F708F|CIITA_uc002dah.2_Silent_p.F660F|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	708	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCTGGCCTTCCCCAGCTTCC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									91			11		0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2433865	2433865	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:2433865G>A	uc002lvy.3	-	7	1468	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	461	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCTCCAGGTCGATCTCC	0.662000														123			7		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85555012	85555012	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:85555012C>T	uc011ccv.2	+	6	1140	c.642C>T	c.(640-642)ttC>ttT	p.F214F	CDS1_uc010ike.1_Silent_p.F18F	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	214					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.F214F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATTAACAGTTCGCATGGACTC	0.393000														69			7		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988098	113988098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:113988098C>T	uc003ynu.3	-	6	1469	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	CSMD3_uc003ynt.3_Missense_Mutation_p.R397K|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	437						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCTTTAGTTCTTTCTATCTG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				96			8		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553802	140553802	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140553802G>A	uc003lit.3	+	0	1560	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	462	Cadherin 5.				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)			TTGTCCGTGAGAACAACAGCC	0.612000														245			12		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453651	82453651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:82453651C>T	uc003uhx.2	-	18	14786	c.14497G>A	c.(14497-14499)Gat>Aat	p.D4833N	PCLO_uc003uhv.2_Missense_Mutation_p.D4833N|PCLO_uc003uht.1_Missense_Mutation_p.D275N|PCLO_uc003uhu.1_Missense_Mutation_p.D254N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4695					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						TTGCCATGATCAATGCTTTCA	0.438000														61			4		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63953993	63953993	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:63953993G>A	uc002amp.3	-	44	9277	c.9129C>T	c.(9127-9129)taC>taT	p.Y3043Y		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3043					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	p.Y3043*(3)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCATGGCTAAGTACTTCTCCC	0.453000														95			7		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911182	43911182	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:43911182C>T	uc010dap.3	+	11	1384	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	CRHR1_uc010wjx.2_Silent_p.F169F|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Silent_p.F344F|CRHR1_uc002ijn.3_Silent_p.F304F|CRHR1_uc010dar.3_Silent_p.F344F|CRHR1_uc010dao.3_Silent_p.F243F|CRHR1_uc010daq.3_Silent_p.F169F|CRHR1_uc021tyu.1_Silent_p.F169F	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	373					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGTCGTCTTCATCTACTTCA	0.587000														146			14		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906683	13906683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:13906683C>T	uc001rbt.2	-	2	757	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	193					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCCACAAAGCTATTCTCAAT	0.473000														71			5		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965868	43965868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43965868G>A	uc002owl.1	-	4	784	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	226						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GTCTTGTTGCGGAGGTCAGAG	0.597000														172			7		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22012526	22012526	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:22012526G>A	uc001rfh.3	-	19	2519	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V	ABCC9_uc001rfi.1_Silent_p.V833V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	833	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.I832V(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTACCAAAAAGACAATGTTGG	0.428000														115			9		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74007750	74007750	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:74007750C>T	uc010wss.1	-	21	2863	c.2635_splice	c.e21-1	p.E879_splice	EVPL_uc002jqi.2_Splice_Site_p.E857_splice|EVPL_uc010wst.1_Splice_Site_p.E327_splice	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	857	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTTCTTCTCCTGGAGAAGGC	0.567000														32			4		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119900153	119900153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:119900153G>A	uc011bjf.2	-	6	1132	c.752C>T	c.(751-753)tCc>tTc	p.S251F	GPR156_uc011bjg.2_Missense_Mutation_p.S247F	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	251						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CACAGGAGGGGAGCTGACATG	0.562000														81			5		0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198460726	198460726	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:198460726G>A	uc002uuo.4	-	7	1624	c.1222C>T	c.(1222-1224)Caa>Taa	p.Q408*		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	408						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCTGGTGTTTGAGCAGCTGAA	0.338000														79			5		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136174	156136174	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:156136174G>A	uc003ioq.3	+	1	1572	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	NPY2R_uc003ior.3_Silent_p.K361K|NPY2R_uc021xtm.1_Silent_p.K361K	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	361					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.K361T(1)|p.K361R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGCTAAAAAGAACCTGGAGG	0.483000														78			4		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793296	160793296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:160793296G>A	uc001fwu.3	+	7	1590	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	LY9_uc001fwv.3_Splice_Site_p.G500_splice|LY9_uc001fww.3_Missense_Mutation_p.G424R|LY9_uc001fwy.1_Splice_Site_p.G312_splice|LY9_uc001fwz.3_Splice_Site_p.G152_splice	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	514					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCTCCCAAGGATATGAGAA	0.542000														39			3		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60709553	60709553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:60709553G>A	uc001nqn.2	-	3	1295	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	SLC15A3_uc001nqo.2_Missense_Mutation_p.P354L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	354					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GATGTTGGCCGGGTTGGCTGG	0.572000														234			23		0	0	1	0	0
TEX30	93081	broad.mit.edu	37	13	103421788	103421788	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:103421788C>G	uc001vpo.3	-	2	297	c.119G>C	c.(118-120)gGa>gCa	p.G40A	TEX30_uc001vpn.3_5'UTR	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.	40										lung(1)|urinary_tract(1)	2						ATTCATATCTCCTGATGCTCC	0.348000														66			4		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255384	50255384	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:50255384C>T	uc003cyn.4	+	10	1029	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SLC38A3_uc011bdl.2_Silent_p.F272F|SLC38A3_uc011bdm.2_Silent_p.F228F	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	297					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTTCGCCTTCGTCTGCCACC	0.617000														70			4		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751844	247751844	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:247751844G>A	uc010pyy.2	+	0	183	c.183G>A	c.(181-183)ccG>ccA	p.P61P		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TTCATATGCCGATGTATTTCT	0.433000														108			4		0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32594746	32594746	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:32594746T>C	uc001iwg.1	-	1	537	c.267A>G	c.(265-267)atA>atG	p.I89M	EPC1_uc001iwi.3_Missense_Mutation_p.I39M|EPC1_uc009xlt.2_Missense_Mutation_p.I39M|EPC1_uc001iwh.1_Missense_Mutation_p.I89M	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	89					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CCCCAGGATATATAGACTCAT	0.378000														64			5		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6085342	6085342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6085342C>T	uc001qnn.1	-	42	7622	c.7372G>A	c.(7372-7374)Gat>Aat	p.D2458N	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2458	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCACGGCATCCTCCATGTCG	0.627000														108			11		0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6883975	6883975	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:6883975C>T	uc001qqt.4	+	3	1075	c.726C>T	c.(724-726)atC>atT	p.I242I	LAG3_uc001qqs.3_Silent_p.I242I|LAG3_uc001qqu.3_Silent_p.I72I	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	242	Ig-like C2-type 1.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGCTGCATCCTCACCTACA	0.572000														107			15		0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128261059	128261059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:128261059G>A	uc002ton.2	-	3	1616	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	438	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCACTGTCAGATGCTATGGT	0.433000														97			10		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39923647	39923647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39923647C>T	uc002hxq.2	-	4	1170	c.893G>A	c.(892-894)gGc>gAc	p.G298D	JUP_uc010wfs.2_Missense_Mutation_p.G298D|JUP_uc002hxr.2_Missense_Mutation_p.G298D|JUP_uc002hxs.2_Missense_Mutation_p.G298D	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	298					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	p.Y297Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCCTGGTTGCCGTAGGCCAG	0.647000														74			5		0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164636	15164636	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:15164636G>A	uc010dzv.2	+	3	482	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	90					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TGGCTCACGGGAGGGAAGGCT	0.557000														87			7		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242291	126242291	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:126242291C>T	uc003ifj.4	+	0	4725	c.4725C>T	c.(4723-4725)ttC>ttT	p.F1575F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1575	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGACACCTTCATTGTTGATC	0.458000														154			7		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	214012511	214012511	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:214012511C>T	uc002vem.3	-	2	229	c.60G>A	c.(58-60)agG>agA	p.R20R	IKZF2_uc010fuu.3_Silent_p.R20R|IKZF2_uc002vej.3_5'UTR|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.R20R|IKZF2_uc002vel.3_5'UTR|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Silent_p.R20R|IKZF2_uc002ven.3_Silent_p.R20R	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGGAGTGCTCCCTTTCGGGTG	0.388000														218			21		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18138547	18138547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:18138547C>T	uc002gsp.3	+	9	1266	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	402					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCCACGTGGCCAGTGTCCCC	0.682000														35			4		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862045	128862045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:128862045C>T	uc003kvb.1	+	3	964	c.964C>T	c.(964-966)Cct>Tct	p.P322S	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	322					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P322H(1)		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)		ATACAAATTACCTCAAGAATA	0.393000														40			3		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298818	107298818	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:107298818G>A	uc004bcb.1	-	0	277	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGGTTGCCCAGGAAGAAGTAC	0.398000														44			6		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14755604	14755604	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:14755604C>T	uc003byy.3	+	7	1703	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	C3orf20_uc003byz.3_Silent_p.F295F|C3orf20_uc003bza.3_Silent_p.F295F|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	417						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						TACCTGGATTCTCCTTGCTGG	0.498000														74			7		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363921	22363921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:22363921C>T	uc002nqs.1	-	2	916	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)				CCACATTCTTCACATTTGTAG	0.363000														76			5		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307940	117307940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:117307940C>T	uc001prh.1	-	25	4800	c.4798G>A	c.(4798-4800)Gaa>Aaa	p.E1600K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1540					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTCGCAGTTCCGTCAGAAAC	0.652000														156			6		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72067053	72067053	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:72067053C>T	uc004ahh.2	-	8	2229	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	651					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						TACAGTTTTCCGACTTGGAGA	0.532000														183			18		0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43023883	43023883	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:43023883G>A	uc003ots.1	-	3	579	c.456C>T	c.(454-456)atC>atT	p.I152I	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Silent_p.I152I	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	152					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TTTCTGTGGCGATGATCCAGC	0.552000														161			12		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910459	52910459	+	Silent	SNP	G	A	A	rs60062350		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:52910459G>A	uc001san.3	-	6	1564	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	KRT5_uc009zmh.3_Silent_p.I467I	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	467	Coil 2.|Rod.		I -> T (in DM-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAAGTGGCGATCTCCACGT	0.587000														271			21		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:43411107C>T	uc002ovj.1	-	4	1306	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E243K|PSG4_uc002ovg.1_Missense_Mutation_p.E403K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	404	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)				TTGGAGATTTCCTTGCCAGTG	0.448000														256			40		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39085890	39085890	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:39085890C>T	uc002rrf.3	-	5	1599	c.1500G>A	c.(1498-1500)aaG>aaA	p.K500K	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Silent_p.K500K	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	500							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)				AAATCTTTTTCTTAAGGTTCA	0.403000														95			5		0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101540168	101540168	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:101540168G>A	uc003yjo.1	-	4	684	c.375C>T	c.(373-375)atC>atT	p.I125I	ANKRD46_uc003yjm.3_Silent_p.I125I|ANKRD46_uc003yjn.1_Silent_p.I125I|ANKRD46_uc003yjp.1_Silent_p.I125I	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	125						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CCAGCAATCGGATGACATCTT	0.378000														107			12		0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136124	46136124	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:46136124C>T	uc002imz.4	+	5	2091	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	NFE2L1_uc002ina.4_Silent_p.S450S|NFE2L1_uc002inb.4_Silent_p.S450S|NFE2L1_uc010wle.2_Silent_p.S292S|NFE2L1_uc010wlf.2_Silent_p.S324S	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	480					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCCTTTCCTTAGACTCGA	0.522000														128			10		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976071	120976071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:120976071C>T	uc003eec.4	+	16	1863	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	STXBP5L_uc011bji.2_Missense_Mutation_p.P575S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	575					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)		AGAAACAAGTCCTCCGTTTCC	0.388000														115			12		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862075	1862075	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:1862075G>A	uc021qbv.1	+	4	235	c.213G>A	c.(211-213)aaG>aaA	p.K71K	TNNI2_uc021qbt.1_Silent_p.K50K|TNNI2_uc021qbu.1_Silent_p.K50K|TNNI2_uc010qxe.1_Silent_p.K71K	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	71					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCACGCCAAGATCGATGCGG	0.672000														65			5		0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77057348	77057348	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:77057348G>A	uc003hjs.3	-	3	641	c.513C>T	c.(511-513)tgC>tgT	p.C171C	NUP54_uc010ije.3_Intron|NUP54_uc011cbs.2_Intron|NUP54_uc011cbt.2_Silent_p.C123C|NUP54_uc003hjt.3_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	171	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CCTTAAATCGGCAAAAGGGAT	0.318000														109			8		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40367082	40367082	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:40367082C>T	uc003ayh.2	+	7	1250	c.987C>T	c.(985-987)acC>acT	p.T329T	GRAP2_uc011aom.2_Silent_p.T303T|GRAP2_uc011aon.2_Silent_p.T263T|GRAP2_uc010gya.2_Silent_p.T329T|GRAP2_uc011aoo.2_Silent_p.T257T|GRAP2_uc011aop.2_Silent_p.T289T|GRAP2_uc011aoq.2_Silent_p.T216T|GRAP2_uc003ayj.2_Silent_p.T329T	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	329	SH3 2.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCATGACCCGATAAACTC	0.537000														114			6		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133531	55133531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:55133531G>A	uc003han.4	+	5	1166	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E173K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	279	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.P278P(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACGGTCCCCGAGGCCACGGT	0.483000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				74			4		0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38027303	38027303	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:38027303G>A	uc001cbj.3	+	3	619	c.609G>A	c.(607-609)caG>caA	p.Q203Q	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	181					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCACTGCAGGCTGAGCAGG	0.577000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			5		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293501	120293501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:120293501C>T	uc001eid.3	-	8	1539	c.1451G>A	c.(1450-1452)aGc>aAc	p.S484N	HMGCS2_uc010oxj.2_Missense_Mutation_p.S442N|HMGCS2_uc021osw.1_Missense_Mutation_p.S250N	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.	484					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)		TGGGAAAAGGCTGTTTGTGTC	0.488000														40			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085544	9085544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9085544G>A	uc002mkp.3	-	0	6475	c.6271C>T	c.(6271-6273)Cca>Tca	p.P2091S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2091	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						GAAAAGAGTGGAAATTCAGTC	0.473000														174			12		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422257	47422257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:47422257C>T	uc010ekv.3	+	0	325	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	109					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCAACCTCATCGAAGCACGGC	0.498000														134			11		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122047607	122047607	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:122047607G>A	uc022akp.1	-	18	3155	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F	CADPS2_uc003vkg.4_Silent_p.F605F|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.F905F|CADPS2_uc022akr.1_Silent_p.F911F	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	911	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.R910*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATTTCGGAGGAAATTATTAA	0.418000														23			3		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377861	55377861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55377861G>A	uc002qhl.4	+	7	1205	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K	KIR3DL2_uc002qho.4_Missense_Mutation_p.R381K|KIR3DL2_uc010esh.3_Missense_Mutation_p.R364K			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	381					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)		GCGGGGGACAGAACAGTGAAT	0.542000														136			18		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046244	1046244	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:1046244C>T	uc002lqw.4	+	12	1692	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	ABCA7_uc010dsb.1_Silent_p.G349G	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	487					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACCCTGGCCCAGCCGCGG	0.657000														202			8		0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171295697	171295697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:171295697G>A	uc003mbm.1	-	11	1942	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	FBXW11_uc011dey.1_Missense_Mutation_p.P492L|FBXW11_uc003mbl.1_Missense_Mutation_p.P511L|FBXW11_uc003mbn.1_Missense_Mutation_p.P490L	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	524					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGGCACTGGGAGGCACATT	0.458000														92			6		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107712800	107712800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:107712800C>T	uc001tmk.1	+	0	604	c.83C>T	c.(82-84)tCg>tTg	p.S28L	BTBD11_uc009zut.1_Missense_Mutation_p.S28L|BTBD11_uc001tmj.3_Missense_Mutation_p.S28L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	28						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGGCGGACTCGGTGCGCTCC	0.642000														31			3		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38998062	38998062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:38998062C>T	uc021yzh.1	+	92	14127	c.14018C>T	c.(14017-14019)cCc>cTc	p.P4673L	DNAH8_uc003ooe.2_Missense_Mutation_p.P4456L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACAAGAAACCCAGGCGAACT	0.493000														95			10		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58287303	58287303	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:58287303G>A	uc002aex.3	-	4	801	c.528C>T	c.(526-528)ccC>ccT	p.P176P	ALDH1A2_uc010ugv.2_Silent_p.P155P|ALDH1A2_uc002aey.3_Silent_p.P176P|ALDH1A2_uc010ugw.2_Silent_p.P147P|ALDH1A2_uc002aew.3_Silent_p.P80P	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	176					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)	ACACTCCAATGGGTTCATGTC	0.383000														124			6		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67020265	67020265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:67020265C>T	uc001ojw.3	+	17	3733	c.2869C>T	c.(2869-2871)Ctt>Ttt	p.L957F	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.L651F|KDM2A_uc010rpn.2_Missense_Mutation_p.L518F|KDM2A_uc001ojz.1_Missense_Mutation_p.L415F|KDM2A_uc001oka.3_Missense_Mutation_p.L81F|KDM2A_uc021qme.1_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	957					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCCAGTCAGCCTTGACCTCAG	0.537000											OREG0021121	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			5		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502271	90502271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:90502271G>A	uc004app.4	+	3	2904	c.2869G>A	c.(2869-2871)Ggg>Agg	p.G957R		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	957						integral to membrane											CAAGGGCAGGGGGTGTTCTCA	0.617000														78			8		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641227	36641227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:36641227G>A	uc002xhl.3	-	2	1201	c.992C>T	c.(991-993)cCc>cTc	p.P331L	TTI1_uc002xhm.3_Missense_Mutation_p.P331L	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	331							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CTTCAGAAGGGGACCAGCACA	0.453000														105			7		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36093627	36093627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:36093627C>T	uc003gsq.2	-	27	4639	c.4301G>A	c.(4300-4302)gGa>gAa	p.G1434E		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1434	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						TTTGATGCTTCCCAGTGTACT	0.328000														91			7		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465512	79465512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:79465512C>T	uc010mpk.3	-	2	335	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PRUNE2_uc022bih.1_Intron|PRUNE2_uc004akn.3_Missense_Mutation_p.E71K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	71					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AACCTCGTCTCGGTGAAGTAG	0.393000														164			11		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084023	152084023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:152084023C>T	uc009wne.1	-	2	1942	c.1670G>A	c.(1669-1671)aGg>aAg	p.R557K	TCHH_uc001ezp.2_Missense_Mutation_p.R557K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	557	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.R557S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGAGCCTCTTCTCCTC	0.662000														137			8		0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147695212	147695212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:147695212G>A	uc003lpd.3	+	3	280	c.223G>A	c.(223-225)Gga>Aga	p.G75R	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	75	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTAATGGAAGAGTTCA	0.373000														44			6		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718593	103718593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:103718593C>T	uc001vpy.4	-	0	604	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	3					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTGTTCGGATCATTCATTGCT	0.507000														97			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140210016	140210016	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:140210016T>C	uc003lho.2	+	0	2367	c.2340T>C	c.(2338-2340)ccT>ccC	p.P780P	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_Intron|PCDHAC2_uc011dab.2_Silent_p.P780P	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	755					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)			CACCTTGTCCTATTATGATGG	0.448000														118			14		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507968	37507968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37507968G>A	uc021ppc.1	+	33	3259	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1054K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1110						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						GTTGAAAAAGGAAATTGCCAT	0.289000														19			3		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476578	42476578	+	Missense_Mutation	SNP	G	A	A	rs142791383		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:42476578G>A	uc002igw.2	-	7	3086	c.2867C>T	c.(2866-2868)tCc>tTc	p.S956F	GPATCH8_uc002igv.2_Missense_Mutation_p.S878F|GPATCH8_uc010wiz.2_Missense_Mutation_p.S878F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	956	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCGGCCCCGGGATCTTGAGCG	0.567000														95			11		0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284190	47284190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:47284190C>T	uc002ioo.2	-	3	446	c.139G>A	c.(139-141)Gat>Aat	p.D47N	GNGT2_uc021tzo.1_Missense_Mutation_p.D47N|GNGT2_uc021tzp.1_Missense_Mutation_p.D47N|GNGT2_uc021tzq.1_Missense_Mutation_p.D47N	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	47					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			AGAAAAGGATCGTTTCCTGCT	0.488000														96			13		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741536	81741536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:81741536C>T	uc001szo.2	-	17	2169	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E596K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E571K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E670K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E670K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E652K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E670K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E237K|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	596										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GATTCTTTTTCTTCCTGAATT	0.383000														41			5		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326879	114326879	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:114326879G>A	uc003ynu.3	-	1	481	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q68*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q108*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.Q108*|CSMD3_uc003ynx.4_Nonsense_Mutation_p.Q108*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	108	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCAAATGACTGAAAAACAATT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				71			9		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095447	124095447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:124095447G>A	uc010saf.2	+	0	50	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	17						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGTCAGCAGGAAACCATTCC	0.478000														40			3		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071047	70071047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:70071047G>A	uc010kak.3	+	27	4158	c.3882G>A	c.(3880-3882)atG>atA	p.M1294I	BAI3_uc003pev.4_Missense_Mutation_p.M1294I|BAI3_uc011dxx.2_Missense_Mutation_p.M500I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1294					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1293G(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCTGACATGGACATAGTCC	0.373000														41			5		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147388	70147388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:70147388G>A	uc004dyn.3	-	6	1303	c.1129C>T	c.(1129-1131)Cac>Tac	p.H377Y	SLC7A3_uc004dyo.3_Missense_Mutation_p.H377Y	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	377					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGCCGGTGTGGATCCGAGCA	0.567000														14			4		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046120	73046120	+	RNA	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:73046120C>T	uc004ebn.2	+	0		c.34081C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TCTTCTCAGTCTAGGGCTTCT	0.413000														19			11		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891299	18891299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:18891299G>A	uc001rdy.3	+	0	255	c.97G>A	c.(97-99)Gat>Aat	p.D33N	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	33					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGCCTTTGATGATCTCTGTCT	0.458000														43			3		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242492	87242492	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:87242492C>T	uc003ydq.1	-	0	113	c.15G>A	c.(13-15)gaG>gaA	p.E5E	SLC7A13_uc003ydr.1_Silent_p.E5E	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	5						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GCTGTATTTTCTCCCCTCTAT	0.358000														58			5		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943108	12943108	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:12943108T>C	uc001aun.2	-	1	179	c.108A>G	c.(106-108)gaA>gaG	p.E36E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	36										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GGGGGAAAAGTTCTGTGGGCA	0.627000														141			18		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931947	55931947	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:55931947G>A	uc002adg.3	-	12	2265	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	739	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCCAGTGCAGGAAGATGGAAG	0.498000														160			14		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140839	143140840	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143140839_143140840CC>TT	uc011ktg.2	+	0	294_295	c.294_295CC>TT	c.(292-297)ttccag>ttTTag	p.Q99*	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	99					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTCTAGCTTTCCAGTGGGACTT	0.480000														108			8		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692161	17692161	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:17692161G>A	uc002rcl.1	-	2	3414	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I	RAD51AP2_uc010exn.1_Silent_p.I1121I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1130	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAATCCTGATTGGCCTAC	0.318000														27			3		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790321	4790321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:4790321G>A	uc010qyl.2	-	0	827	c.827C>T	c.(826-828)tCa>tTa	p.S276L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	276						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCCATCACTGAATGGACTAC	0.498000														92			9		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	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)		AATAACGAACGAACTGTATGG	0.413000														42			6		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208432	106208432	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:106208432G>A	uc001yse.3	-	3	512	c.66C>T	c.(64-66)gtC>gtT	p.V22V	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		AGTTGAACTTGACCTCAGGGT	0.587000														216			31		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22747966	22747966	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:22747966A>G	uc009yie.3	+	3	702	c.396A>G	c.(394-396)gaA>gaG	p.E132E	GAS2_uc001mqm.3_Silent_p.E132E|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Silent_p.E132E	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	132	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GTCTATTTGAATCGGAAGGTT	0.378000														61			5		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574314	142574314	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:142574314G>A	uc003wbx.2	-	5	838	c.609C>T	c.(607-609)ctC>ctT	p.L203L	TRPV6_uc003wbw.1_5'UTR|TRPV6_uc010lou.1_Silent_p.L74L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	203					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCTGGAGGATGAGGATGTGTA	0.572000														182			21		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57828183G>A	uc002yan.3	+	3	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1393						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)					ATGGACAAACGAACTGTGAAG	0.468000														112			5		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594272	136594272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:136594272G>A	uc003qgx.1	-	6	2159	c.1906C>T	c.(1906-1908)Cag>Tag	p.Q636*	BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q634*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q634*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q463*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	636					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)		GTGGCTTTCTGATACGAAGTG	0.388000														220			12		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163209	211163209	+	Missense_Mutation	SNP	C	T	T	rs141590730	byFrequency	TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:211163209C>T	uc002vec.3	-	2	368	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	MYL1_uc002veb.3_Missense_Mutation_p.R36Q	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	80	EF-hand 1.				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)		GCCCAGAGCTCGAAGGACATC	0.458000														54			3		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971017	21971017	+	Missense_Mutation	SNP	G	A	A	rs121913386		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:21971017G>A	uc003zpk.3	-	1	647	c.341C>T	c.(340-342)cCc>cTc	p.P114L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	114			P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGGTCCACGGGCAGACGGCC	0.731000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				39			4		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246141	166246141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:166246141G>A	uc002udc.3	+	26	6115	c.5825G>A	c.(5824-5826)gGa>gAa	p.G1942E	SCN2A_uc002udd.3_Missense_Mutation_p.G1942E|SCN2A_uc002ude.3_Missense_Mutation_p.G1942E|SCN2A_uc021vry.1_Missense_Mutation_p.G442E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1942					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATGTGATGGAACACCCATC	0.398000														34			8		0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645648	236645648	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:236645648T>C	uc001hxu.1	+	5	412	c.347T>C	c.(346-348)cTc>cCc	p.L116P	EDARADD_uc001hxv.1_Missense_Mutation_p.L106P	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	116					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTGACTTGCTCAATGATCAG	0.483000														106			6		0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124358978	124358978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:124358978G>A	uc003yqh.4	-	16	2333	c.2225C>T	c.(2224-2226)cCt>cTt	p.P742L	ATAD2_uc011lii.2_Missense_Mutation_p.P533L|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.P742L	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTAGCAGAGGACAAGAAAT	0.323000														147			15		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57597906	57597906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:57597906G>A	uc002yak.3	+	1	333	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	22					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TCAGTTCTGGGAGATGATTGG	0.547000														49			6		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262837	127262837	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:127262837G>A	uc004boo.1	-	3	589	c.402C>T	c.(400-402)ccC>ccT	p.P134P	NR5A1_uc022bnh.1_Silent_p.P134P	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	134					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						AGTCCGGTGCGGGAGGGGGCG	0.711000														48			17		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20551999	20551999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20551999C>T	uc002dhj.4	-	13	1816	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	ACSM2B_uc002dhk.4_Missense_Mutation_p.A536T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	536					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTGTATGGGGCTGTCACTGAC	0.478000														79			10		0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19770515	19770515	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:19770515C>T	uc002zqc.3	+	8	1218	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S		NM_005992	NP_005983	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant B, mRNA.	0					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				agtctgagtccctgagaccac	0.592000														127			9		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650586	121650586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:121650586C>T	uc003vjy.3	+	11	1881	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	PTPRZ1_uc011knt.2_Missense_Mutation_p.P496S|PTPRZ1_uc003vjz.3_Missense_Mutation_p.P496S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	496					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.V495I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGTGATGTTCCCAATACATC	0.423000														51			10		0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18540843	18540843	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:18540843G>A	uc002dfe.3	-	14	1858	c.1786C>T	c.(1786-1788)Ctg>Ttg	p.L596L	NOMO2_uc002dff.3_Silent_p.L596L|NOMO2_uc010bvx.3_Silent_p.L429L	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	596						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GCGTGAGACAGGGAACATCTC	0.507000														63			6		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938287	140938287	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:140938287G>A	uc004cog.3	+	20	3493	c.3348G>A	c.(3346-3348)gtG>gtA	p.V1116V	CACNA1B_uc022bqn.1_Silent_p.V1116V|CACNA1B_uc011mfd.2_Silent_p.V717V|CACNA1B_uc004coi.3_Silent_p.V326V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1116					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)	CGGATGACGTGATGAGGAGCG	0.602000														199			55		0	0	1	0	0
ARL3	403	broad.mit.edu	37	10	104459131	104459131	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:104459131A>G	uc001kwa.3	-	3	422	c.264_splice	c.e3+1	p.L88_splice		NM_004311	NP_004302	P36405	ARL3_HUMAN	Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.	88					cell cycle|cytokinesis|small GTPase mediated signal transduction	Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		AGTACTTACAAGAATATCGGT	0.363000														54			3		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31757083	31757083	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:31757083T>C	uc002wyo.1	+	1	203	c.132T>C	c.(130-132)ctT>ctC	p.L44L		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	44						extracellular region	lipid binding										ACGAGGGACTTGAGACAGTTG	0.468000														125			11		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981983	61981983	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:61981983G>A	uc002yes.2	-	4	958	c.780C>T	c.(778-780)ctC>ctT	p.L260L	CHRNA4_uc002yet.1_Silent_p.L84L|CHRNA4_uc010gke.1_Silent_p.L189L|CHRNA4_uc002yev.1_Silent_p.L84L|CHRNA4_uc010gkf.1_Silent_p.L84L	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	260					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCAGCACGGTGAGGCAGGAGA	0.602000														95			7		0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95224385	95224385	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:95224385G>A	uc003uoa.3	-	1	542	c.222C>T	c.(220-222)atC>atT	p.I74I	PDK4_uc003unz.3_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	74					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.D73D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GGGTCGGGAGGATATCAATTT	0.388000														186			13		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846399	55846399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:55846399G>A	uc001sgz.1	+	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGGTCATCATGAACAACAGGG	0.453000														75			8		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702165	23702165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23702165G>A	uc002dma.4	-	21	3081	c.2912C>T	c.(2911-2913)gCc>gTc	p.A971V	ERN2_uc010bxp.3_Missense_Mutation_p.A919V	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	923					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCTCCCTGTGGCCCCAGGGCA	0.647000														27			3		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37296034	37296034	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:37296034A>G	uc002rpp.1	-	7	1063	c.967T>C	c.(967-969)Ttg>Ctg	p.L323L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	323							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)				CTGCGCTCCAACCACTGACCA	0.463000														32			3		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49044310	49044310	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:49044310G>A	uc003cvh.3	+	8	2011	c.1662G>A	c.(1660-1662)cgG>cgA	p.R554R	P4HTM_uc003cvg.3_Silent_p.R493R|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	493						endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTCTGGACCGGGCCTACCGCG	0.687000														35			3		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72921268	72921268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:72921268C>T	uc001xna.4	+	3	740	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	RGS6_uc021rvv.1_Missense_Mutation_p.L38F|RGS6_uc010ttn.2_Missense_Mutation_p.L73F|RGS6_uc021rvw.1_Missense_Mutation_p.L73F|RGS6_uc021rvx.1_Missense_Mutation_p.L73F|RGS6_uc021rvy.1_Missense_Mutation_p.L73F|RGS6_uc021rvz.1_Missense_Mutation_p.L73F|RGS6_uc001xmy.4_Missense_Mutation_p.L73F|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.L73F|RGS6_uc021rwa.1_Missense_Mutation_p.L73F|RGS6_uc021rwb.1_Missense_Mutation_p.L73F|RGS6_uc010ttp.1_Missense_Mutation_p.L4F|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	73	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TATGAAGAACCTTTCCATTGA	0.463000														141			16		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25338387	25338387	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:25338387C>T	uc001upr.3	+	0	87	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Nonsense_Mutation_p.Q16*|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_5'UTR|RNF17_uc001upq.1_Nonsense_Mutation_p.Q16*	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	16					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)		GTCTTCCTACCAGCGAATGGG	0.622000														47			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20981309	20981309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:20981309C>T	uc010vbe.2	-	51	8263	c.8263G>A	c.(8263-8265)Gaa>Aaa	p.E2755K	DNAH3_uc010vbd.2_Missense_Mutation_p.E190K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2755	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCACATTCGTTCTGTGGG	0.597000														90			13		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30926343	30926343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:30926343C>T	uc010xbr.1	-	7	632	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	C18orf34_uc002kxn.2_Missense_Mutation_p.E164K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E164K|C18orf34_uc002kxp.3_Missense_Mutation_p.E164K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	164										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						AGCAATGTTTCCATTTCCTGC	0.368000														80			6		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35333169	35333169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:35333169G>A	uc001byc.3	-	7	2545	c.2545C>T	c.(2545-2547)Cag>Tag	p.Q849*		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	849					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)				AAGAACTGCTGAACCTTCTGG	0.517000														352			39		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14497966	14497966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:14497966C>T	uc003jff.3	+	50	8036	c.8030C>T	c.(8029-8031)cCc>cTc	p.P2677L	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2677					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)					CTTCTCAATCCCAACTACATT	0.403000														327			19		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189429	100189429	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:100189429C>T	uc011kjz.1	+	3	644	c.576C>T	c.(574-576)acC>acT	p.T192T	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.T140T|FBXO24_uc003uvm.1_Silent_p.T154T|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.T142T	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	154						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)					ACGTGGGGACCCTCTTCTTCC	0.587000														137			9		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321117	2321117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:2321117C>T	uc002wfx.4	+	12	2069	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	658					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GTCCCGGGTCCGTTTTGATAT	0.602000														133			17		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237617733	237617733	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:237617733C>T	uc001hyl.1	+	14	1455	c.1335C>T	c.(1333-1335)gtC>gtT	p.V445V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	445					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.V443V(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)			CTTCCACAGTCGATTTGCCTA	0.423000														33			3		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027575	9027575	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr3:9027575C>T	uc003brf.1	-	21	3604	c.2928G>A	c.(2926-2928)cgG>cgA	p.R976R	SRGAP3_uc003brg.1_Silent_p.R952R	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	976					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTCGAGTTCCCGCAACTCGT	0.642000			T	RAF1	pilocytic astrocytoma									72			5		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966238	87966238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:87966238C>T	uc001kdl.1	-	2	504	c.403G>A	c.(403-405)Gat>Aat	p.D135N	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	135						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCCTCACCATCGGGGCTGGGG	0.627000										Multiple Myeloma(13;0.14)				92			10		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16126992	16126992	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:16126992C>T	uc010bvi.3	+	5	817	c.642C>T	c.(640-642)tcC>tcT	p.S214S	ABCC1_uc010bvj.3_Silent_p.S214S|ABCC1_uc010bvk.3_Silent_p.S214S|ABCC1_uc010bvl.3_Silent_p.S214S|ABCC1_uc010bvm.3_Silent_p.S214S|ABCC1_uc002del.4_Silent_p.S98S|ABCC1_uc010bvn.3_Silent_p.S77S	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	214					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCAGCGCTTCCTTCCTGTCGA	0.522000														89			7		0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162824896	162824896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:162824896C>T	uc001gck.2	-	3	743	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.E189K	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	190										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGACCTTGTTCTATGGTGTTG	0.478000														141			8		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67323518	67323518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:67323518C>T	uc002esu.2	-	15	2786	c.2735G>A	c.(2734-2736)aGg>aAg	p.R912K	KCTD19_uc002est.2_Missense_Mutation_p.R684K|KCTD19_uc010vjj.1_Missense_Mutation_p.R655K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	912						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGAGACAGACCTAGACAGGCC	0.537000														121			11		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163361035	163361035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:163361035G>A	uc002uch.2	-	5	1275	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	KCNH7_uc002uci.3_Missense_Mutation_p.S342L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	349					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGGAGGTGATGAATTCTTTTT	0.388000														87			8		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072785	35072785	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:35072785G>A	uc003jjm.3	-	5	994	c.435C>T	c.(433-435)ccC>ccT	p.P145P	PRLR_uc003jjk.1_Silent_p.P74P|PRLR_uc003jjg.2_Silent_p.P145P|PRLR_uc003jjh.2_Silent_p.P145P|PRLR_uc003jji.2_Silent_p.P74P|PRLR_uc003jjj.2_Silent_p.P145P|PRLR_uc003jjl.4_Silent_p.P44P|PRLR_uc021xxl.1_Silent_p.P145P|PRLR_uc010iuw.1_Silent_p.P74P	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	145	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCACAGGTAGGGTTTTCTGT	0.458000														73			9		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576445	111576445	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:111576445C>T	uc003kpv.1	-	9	1132	c.858G>A	c.(856-858)aaG>aaA	p.K286K		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	286	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CCACACTGCACTTCCAGAGGT	0.308000														52			5		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727707	39727707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:39727707C>T	uc002hxe.4	-	0	604	c.538G>A	c.(538-540)Gac>Aac	p.D180N	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	180	Coil 1A.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			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)				TTCTCCAGGTCGTTGTTGGCC	0.468000														107			10		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099328	155099328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:155099328C>T	uc002tyt.4	+	3	700	c.596C>T	c.(595-597)tCa>tTa	p.S199L	GALNT13_uc002tyr.4_Missense_Mutation_p.S199L|GALNT13_uc010foc.1_Missense_Mutation_p.S18L|GALNT13_uc010fod.3_5'Flank	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	199	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCAGCTGCTTCAAAAGGGCAG	0.423000														45			4		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16248637	16248637	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:16248637G>A	uc002den.4	-	28	4093	c.4056C>T	c.(4054-4056)ttC>ttT	p.F1352F	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1352	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GAGAGCCAGGGAACAGGATGG	0.672000														20			3		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680528	9680528	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:9680528T>C	uc010vvb.2	-	3	569	c.556A>G	c.(556-558)Atc>Gtc	p.I186V	DHRS7C_uc010cof.3_Missense_Mutation_p.I185V	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	186						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CGGAACGGGATTCCAAACTTC	0.418000														48			3		0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966495	132966495	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:132966495G>A	uc003qdm.1	-	0	648	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	216						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GTTCTTTAGCGATAAGATATA	0.333000														41			4		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36064363	36064363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:36064363G>A	uc003jjz.2	-	1	316	c.184C>T	c.(184-186)Cct>Tct	p.P62S	UGT3A2_uc011cos.2_Intron|UGT3A2_uc011cot.2_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	62						integral to membrane	glucuronosyltransferase activity			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)			GGCATAAAAGGACCTCTTTTG	0.393000														58			4		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699225	49699225	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:49699225G>A	uc003jom.3	-	5	913	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	EMB_uc010ivq.3_Silent_p.L16L|EMB_uc003jol.3_Silent_p.L153L|EMB_uc011cpy.2_Silent_p.L172L	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	222	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTTATCTTCAGCTTTGTTTCG	0.388000														38			3		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551861	58551861	+	Silent	SNP	C	T	T	rs147151087		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:58551861C>T	uc002qrc.1	+	3	661	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	138					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACTGGAGTTTCGGTGAGGAGG	0.612000														230			14		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33312753	33312753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:33312753C>T	uc003tdn.1	+	7	1345	c.832C>T	c.(832-834)Cga>Tga	p.R278*	BBS9_uc003tdo.1_Nonsense_Mutation_p.R278*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R278*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R278*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Nonsense_Mutation_p.R278*|BBS9_uc011kao.1_Nonsense_Mutation_p.R156*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	278					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGGACAAATTCGATTCATGAA	0.378000									Bardet-Biedl syndrome					84			7		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55808737	55808737	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:55808737A>T	uc002rzc.3	-	7	2023	c.1331T>A	c.(1330-1332)cTa>cAa	p.L444Q	SMEK2_uc002rzb.3_Missense_Mutation_p.L444Q|SMEK2_uc002rzd.3_Missense_Mutation_p.L444Q|SMEK2_uc002rza.3_Missense_Mutation_p.L320Q	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	444						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGATCAATTAGAGTACGAAG	0.368000														120			12		0	0	1	0	0
DNAJC7	7266	broad.mit.edu	37	17	40133998	40133998	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:40133998A>G	uc002hyo.3	-	11	1540	c.1259T>C	c.(1258-1260)gTt>gCt	p.V420A	DNAJC7_uc010wgb.2_Missense_Mutation_p.V364A|DNAJC7_uc002hyp.3_Missense_Mutation_p.V364A|DNAJC7_uc010wgc.2_Missense_Mutation_p.V278A	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	420	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTCCTTCTGAACCTCAGCACT	0.428000														63			8		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088404	57088404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:57088404C>T	uc002qnl.4	+	5	1283	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H203Y(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATTTAATTTTCATACAGATAA	0.289000														32			6		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213270	84213270	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:84213270G>A	uc002fhn.3	-	13	2129	c.1887C>T	c.(1885-1887)acC>acT	p.T629T	TAF1C_uc010vnz.2_Silent_p.T297T|TAF1C_uc002fho.3_Silent_p.T152T|TAF1C_uc010voa.2_Silent_p.T297T|TAF1C_uc002fhm.3_Silent_p.T535T|TAF1C_uc010vnx.2_Silent_p.T603T|TAF1C_uc010vny.2_Silent_p.T220T	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	629					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TGTCCTGGGAGGTCCAGGAAG	0.667000														18			4		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490932	157490932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:157490932G>A	uc009wsm.3	-	10	2548	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	FCRL5_uc001fqu.3_Missense_Mutation_p.S797L	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	797	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.S797L(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGGGGGACGACCTATTTCC	0.592000														115			14		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087298	92087298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:92087298G>A	uc001pdj.4	+	0	2037	c.2020G>A	c.(2020-2022)Ggg>Agg	p.G674R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	674	Cadherin 6.				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)				AGTCCTACATGGGAAAGTGTC	0.408000										TCGA Ovarian(4;0.039)				29			4		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81565429	81565429	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:81565429A>G	uc021ssh.1	+	5	777	c.676_splice	c.e5-2	p.G226_splice	IL16_uc002bgc.2_Splice_Site|IL16_uc010blq.1_Splice_Site_p.G226_splice|IL16_uc002bge.4_Splice_Site|IL16_uc010unp.2_Splice_Site_p.G268_splice|IL16_uc021ssg.1_Splice_Site_p.G226_splice|IL16_uc002bgg.3_Splice_Site_p.G226_splice	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	226	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTTTTTCCCCAGGGTCTGGGC	0.512000														50			4		0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79911419	79911419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr13:79911419G>A	uc001vkz.2	-	18	2571	c.2557C>T	c.(2557-2559)Ctt>Ttt	p.L853F	RBM26_uc001vky.2_Missense_Mutation_p.L824F|RBM26_uc001vla.2_Missense_Mutation_p.L827F|RBM26_uc001vkx.2_Missense_Mutation_p.L563F|RBM26_uc010tia.2_Missense_Mutation_p.L208F	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	851					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCAGATGAAAGAATCCCTCGT	0.517000														128			11		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131833327	131833327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:131833327C>T	uc003vra.4	-	25	4968	c.4739G>A	c.(4738-4740)cGa>cAa	p.R1580Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1580						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						TGTGTTCAGTCGCTTCCAATC	0.522000														116			8		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978564	160978564	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:160978564C>T	uc003qtl.3	-	29	4791	c.4671G>A	c.(4669-4671)ggG>ggA	p.G1557G		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4065	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGGGTTGTTTCCCAGAATCTG	0.507000														85			10		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122090	39122090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr22:39122090C>T	uc003awg.3	+	6	1307	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	385					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTCCTCTCCCCCCGCACCAG	0.567000														180			23		0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44811453	44811453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:44811453C>T	uc001ztr.3	+	10	1615	c.1199C>T	c.(1198-1200)aCt>aTt	p.T400I	CTDSPL2_uc001zts.3_Missense_Mutation_p.T400I|CTDSPL2_uc001ztt.3_Missense_Mutation_p.T400I|CTDSPL2_uc010bdv.3_Missense_Mutation_p.T328I	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA.	400	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CTTTCAAAAACTATAATAATT	0.333000														67			11		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508226	37508226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:37508226G>A	uc021ppc.1	+	33	3517	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1140K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1196						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						GGCAGAAATTGAATCACACCA	0.393000														39			3		0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17001280	17001280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:17001280G>A	uc002nfa.3	+	1	1181	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	336					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAGCTGCGTGGATCCCTTCAT	0.657000														32			4		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121290694	121290694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:121290694C>T	uc003yox.3	+	27	3623	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	COL14A1_uc003yoz.3_Nonsense_Mutation_p.R85*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1120	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGTATGTTCGAGATACCTT	0.398000														44			4		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155485632	155485632	+	Silent	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:155485632G>A	uc003qqb.3	+	9	3385	c.2112G>A	c.(2110-2112)ggG>ggA	p.G704G	TIAM2_uc003qqe.3_Silent_p.G704G|TIAM2_uc010kjj.3_Silent_p.G237G|TIAM2_uc003qqf.3_Silent_p.G56G|TIAM2_uc011efl.1_Silent_p.G16G|TIAM2_uc003qqg.3_Silent_p.G16G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	704					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAAGGTGGGGAGTTACCGA	0.537000														154			9		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149694	63149694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:63149694G>A	uc001nww.3	+	5	1286	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	340					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCTCTGTGTGAAATGCTCCA	0.398000														72			6		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55798596	55798596	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:55798596C>T	uc002qkf.3	+	4	421	c.294C>T	c.(292-294)atC>atT	p.I98I	BRSK1_uc021vbs.1_Silent_p.I82I|BRSK1_uc002qkg.3_Silent_p.I82I	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	82	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGCGGGAGATCGCCATCCTGA	0.607000														205			11		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17083065	17083065	+	Silent	SNP	T	C	C			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:17083065T>C	uc001ioo.3	-	26	4036	c.3984A>G	c.(3982-3984)gaA>gaG	p.E1328E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1328	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTATGTGATGTTCCAAGTCAA	0.388000														148			9		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10777287	10777287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10777287G>A	uc001qys.2	-	7	1410	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	297	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R297Q(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGAGAAGCCGTTCTGGGGCA	0.493000										HNSCC(73;0.22)				152			22		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461933	5461933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:5461933G>A	uc010qze.2	-	0	851	c.812C>T	c.(811-813)cCa>cTa	p.P271L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAACAGGTGGAGCACTTTT	0.478000														70			7		0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746302	23746302	+	Silent	SNP	A	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:23746302A>T	uc001wja.2	-	1	283	c.135T>A	c.(133-135)ccT>ccA	p.P45P	HOMEZ_uc001wjb.2_Silent_p.P47P	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGAGATTGGAGGGAGGCAGA	0.532000														40			3		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927045	166927045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:166927045C>T	uc001gdx.2	-	1	396	c.340G>A	c.(340-342)Gga>Aga	p.G114R		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	114	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TAGAAATCTCCCAGGGTGACA	0.473000														70			8		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945257	72945257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr11:72945257G>A	uc021qna.1	+	0	53	c.53G>A	c.(52-54)gGg>gAg	p.G18E	P2RY2_uc001otk.3_Missense_Mutation_p.G18E|P2RY2_uc001otj.3_Missense_Mutation_p.G18E|P2RY2_uc001otl.3_Missense_Mutation_p.G18E	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	18					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.G18W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACCTGGGATGGGGATGAGCTG	0.637000														89			7		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026564	153026564	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:153026564C>T	uc011dcy.2	+	2	354	c.327C>T	c.(325-327)tcC>tcT	p.S109S	GRIA1_uc003lva.4_Silent_p.S99S|GRIA1_uc003luy.4_Silent_p.S99S|GRIA1_uc003luz.4_Silent_p.S4S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Silent_p.S30S|GRIA1_uc011dcz.2_Silent_p.S109S|GRIA1_uc010jia.1_Silent_p.S79S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	99					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCTGACCTCCTTTTGTGGGG	0.493000														80			5		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250983	35250983	+	Silent	SNP	A	G	G			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:35250983A>G	uc010edn.1	-	3	1111	c.723T>C	c.(721-723)gaT>gaC	p.D241D	ZNF599_uc010edm.2_Silent_p.D204D	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D241G(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTCGAATGACATCAGCCATAT	0.483000														101			11		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439527	150439527	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:150439527C>T	uc022apw.1	+	5	1052	c.912C>T	c.(910-912)atC>atT	p.I304I	GIMAP1-GIMAP5_uc003whr.2_Silent_p.I100I	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		ACAAGAACATCGGGGACTGCT	0.582000														106			9		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069785	4069785	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:4069785C>T	uc003mvx.3	-	6	1078	c.672G>A	c.(670-672)ctG>ctA	p.L224L	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Silent_p.L161L	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	224																	GCTTCAAGTTCAGGTCCACCT	0.368000														124			7		0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111741286	111741286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:111741286C>T	uc001eak.1	-	2	522	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	DENND2D_uc001eal.1_Missense_Mutation_p.G105R	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	108	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CACTCATTCCCATCTGGGAAG	0.542000														146			16		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101829544	101829544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:101829544G>A	uc001kql.2	-	2	763	c.503C>T	c.(502-504)aCc>aTc	p.T168I		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	168	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTAGATATAGGTATTGAGATC	0.468000														89			13		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532599	71532599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr9:71532599C>T	uc004agu.3	+	8	1212	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	PIP5K1B_uc011lrq.2_Missense_Mutation_p.L303F|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	303	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCAGAAGGTTCTCTACTCAAC	0.502000														88			12		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80476056	80476056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr5:80476056C>T	uc003kha.2	+	17	2799	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	917					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GGCTACCAATCGAGTTCTGAA	0.398000														132			15		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20037364	20037364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:20037364G>A	uc002wru.3	+	1	181	c.67G>A	c.(67-69)Gat>Aat	p.D23N	C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Missense_Mutation_p.D23N|C20orf26_uc010zsf.1_Missense_Mutation_p.D23N|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	23										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGAATCACAGGATGTTTATTG	0.353000														120			8		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458322	16458322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:16458322G>A	uc001aya.2	-	13	2524	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	790	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTCCGGTAGGAAATGGCCTC	0.632000														48			3		0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284743	47284743	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr17:47284743C>T	uc002ioo.2	-	2	349	c.42G>A	c.(40-42)gaG>gaA	p.E14E	GNGT2_uc021tzo.1_Silent_p.E14E|GNGT2_uc021tzp.1_Silent_p.E14E|GNGT2_uc021tzq.1_Silent_p.E14E|ABI3_uc002ioq.1_5'Flank|ABI3_uc002iop.1_5'Flank	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	14					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GCTGCTCCACCTCCATCTTCA	0.537000														260			21		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978488	160978488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:160978488C>T	uc003qtl.3	-	29	4867	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4091	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACCTGATTCTGTTTCTGAG	0.483000														125			13		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21775302	21775302	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:21775302C>T	uc003svc.3	+	46	7537	c.7506C>T	c.(7504-7506)ttC>ttT	p.F2502F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2502	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAGATATTTCATGGAGTTGT	0.443000									Kartagener syndrome					5			3		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990952	63990952	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:63990952C>T	uc003peh.3	-	3	538	c.504G>A	c.(502-504)gtG>gtA	p.V168V	LGSN_uc003pei.3_Silent_p.V168V	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	168					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TATCACATATCACTCTTGCAG	0.458000														77			7		0	0	1	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882692	143882692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:143882692C>T	uc010lpc.3	+	0	2145	c.2096C>T	c.(2095-2097)gCt>gTt	p.A699V		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	699	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						CCACCTCTTGCTCCAATCAGC	0.498000														284			11		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585181	158585181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:158585181C>T	uc001fst.1	-	47	6812	c.6613G>A	c.(6613-6615)Gag>Aag	p.E2205K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2205					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTGGATCTCCTTCTGTTTT	0.458000														103			4		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123276650	123276650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:123276650G>A	uc001udc.3	+	5	916	c.754G>A	c.(754-756)Gat>Aat	p.D252N	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_Missense_Mutation_p.D67N	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	252						cytoplasm|nucleus		p.D252N(3)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCCTGCACGATGAATTGCT	0.393000														62			5		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547846	35547846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:35547846C>T	uc002xgh.2	-	6	973	c.773G>A	c.(772-774)gGt>gAt	p.G258D		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	258	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGGGATGAGACCATATTGTTC	0.353000														62			5		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15888703	15888703	+	Silent	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:15888703C>T	uc001aws.3	+	8	1341	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	DNAJC16_uc001awr.1_Silent_p.S407S|DNAJC16_uc001awt.3_Silent_p.S95S|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	407					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTTTCCTGTCCTTTGCCCTGG	0.458000														197			20		0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1322811	1322811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:1322811G>A	uc001afi.2	-	10	1395	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Missense_Mutation_p.P233S|CCNL2_uc001afg.1_Missense_Mutation_p.P233S|CCNL2_uc001afj.2_Missense_Mutation_p.P233S	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	455					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GGCTTCTGGGGGTACTTGCAG	0.602000														85			9		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584019	138584019	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:138584019T>A	uc003qhu.3	+	11	1570	c.1399T>A	c.(1399-1401)Tgg>Agg	p.W467R		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	467					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGGCTGAGTGGAGCCGAGA	0.617000														18			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000														38			3		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103123354	103123354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:103123354C>T	uc022ajr.1	-	62	10406	c.10246G>A	c.(10246-10248)Gat>Aat	p.D3416N	RELN_uc022ajq.1_Missense_Mutation_p.D3416N|RELN_uc010liz.3_Missense_Mutation_p.D3416N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3416					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCCATTGATCATGACCTGTT	0.473000														113			13		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295276	29295276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr2:29295276C>T	uc002rmt.2	-	0	1852	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	618					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGACTGAGGTCCCTCTGGACC	0.632000														31			6		0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135309544	135309544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chrX:135309544G>A	uc004ezt.3	-	11	2154	c.1933C>T	c.(1933-1935)Caa>Taa	p.Q645*	MAP7D3_uc004ezs.3_Nonsense_Mutation_p.Q610*|MAP7D3_uc011mwc.2_Nonsense_Mutation_p.Q627*|MAP7D3_uc010nsa.2_Nonsense_Mutation_p.Q603*	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	645						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTGCTTGGCCTCCAACT	0.403000														50			23		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10464126	10464126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:10464126C>T	uc009zhi.3	+	3	487	c.227C>T	c.(226-228)tCc>tTc	p.S76F	KLRD1_uc001qxw.4_Missense_Mutation_p.S76F|KLRD1_uc001qxx.4_Missense_Mutation_p.S76F|KLRD1_uc001qxy.4_Missense_Mutation_p.S45F|KLRD1_uc009zhh.3_Missense_Mutation_p.S55F|KLRD1_uc001qxz.4_Missense_Mutation_p.S76F			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	76	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TACTTCATTTCCAGTGAACAG	0.448000														91			11		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716367	23716367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr16:23716367C>T	uc002dma.4	-	7	1004	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	ERN2_uc010bxp.3_Missense_Mutation_p.G279S|ERN2_uc010bxq.1_Missense_Mutation_p.G87S	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	231				T -> A (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTGTAGACGCCCATCACAGGC	0.677000														48			4		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769304	43769304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:43769304G>A	uc010skx.2	-	35	5324	c.5324C>T	c.(5323-5325)cCa>cTa	p.P1775L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1775	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATTGATATGGATTTTTTAG	0.348000														117			12		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846559	20846559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr14:20846559C>T	uc001vxe.3	-	37	5528	c.5488G>A	c.(5488-5490)Gat>Aat	p.D1830N	TEP1_uc010ahk.3_Missense_Mutation_p.D1173N|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.D1722N|TEP1_uc010tlh.1_Missense_Mutation_p.D168N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1830					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGAGCCCATCCACCTGGAAG	0.582000														73			4		0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23724379	23724379	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr1:23724379delG	uc021oig.1	-	5	648	c.513delC	c.(511-513)gccfs	p.A171fs	TCEA3_uc021oih.1_Frame_Shift_Del_p.A150fs	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	171	Ser-rich.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACATGGAAGAGGCAAACGTGG	0.542													---	88	---	---	7	---					
UGT2A3	79799	broad.mit.edu	37	4	69796888	69796888	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr4:69796888delG	uc003hef.2	-	3	1100	c.1069delC	c.(1069-1071)cagfs	p.Q357fs	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	357						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGATCATTCTGGGGTATCCAA	0.368													---	75	---	---	10	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr6:89975427_89975429delAAG	uc003pnb.2	-	6	875_877	c.867_869delCTT	c.(865-870)ttcttg>ttg	p.F289del	GABRR2_uc011dzx.1_In_Frame_Del_p.F165del	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	289					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													---	139	---	---	7	---					
TRIM4	89122	broad.mit.edu	37	7	99506323	99506325	+	In_Frame_Del	DEL	TCT	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99506323_99506325delTCT	uc003usd.3	-	3	877_879	c.678_680delAGA	c.(676-681)gaagag>gag	p.226_227EE>E	TRIM4_uc003use.3_In_Frame_Del_p.200_201EE>E|TRIM4_uc011kjc.2_In_Frame_Del_p.56_57EE>E|TRIM4_uc003usf.3_In_Frame_Del_p.200_201EE>E	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	226					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTTCTTCGTCTCTTCTTCTTCTT	0.443													---	92	---	---	7	---					
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	RNA	DEL	T	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:99943553delT	uc022ail.1	+	3		c.346delT						Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 2, non-coding RNA.						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAGGGATTTTTTTTTTT	0.413													---	5	---	---	3	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:114271580_114271582delCAG	uc003vhb.3	+	6	972	c.598_splice	c.e6-1	p.Q200_splice	FOXP2_uc003vgu.3_Splice_Site|FOXP2_uc003vgz.3_Splice_Site_p.Q225_splice|FOXP2_uc003vha.3_Splice_Site_p.Q108_splice|FOXP2_uc011kmv.2_Intron|FOXP2_uc011kmu.2_Splice_Site_p.Q217_splice|FOXP2_uc010ljz.2_Splice_Site_p.Q108_splice|FOXP2_uc003vgt.2_Splice_Site|FOXP2_uc003vgv.1_Splice_Site_p.Q200_splice|FOXP2_uc003vgx.2_Splice_Site_p.Q200_splice|FOXP2_uc003vhc.3_Splice_Site_p.Q225_splice|FOXP2_uc003vhd.3_Splice_Site_p.Q200_splice	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	200	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													---	4	---	---	2	---					
PRKAG2	51422	broad.mit.edu	37	7	151261265	151261266	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr7:151261265_151261266delTC	uc003wkk.3	-	13	2093_2094	c.1482_1483delGA	c.(1480-1485)gtgaccfs	p.V494fs	PRKAG2_uc003wki.3_Frame_Shift_Del_p.V253fs|PRKAG2_uc011kvl.2_Frame_Shift_Del_p.V369fs|PRKAG2_uc003wkj.3_Frame_Shift_Del_p.V450fs|PRKAG2_uc003wkl.2_Frame_Shift_Del_p.V42fs	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	494					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGGCCTGGGTCACCGTGATAT	0.401													---	231	---	---	30	---					
PRKDC	5591	broad.mit.edu	37	8	48866910	48866910	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr8:48866910delT	uc003xqi.3	-	4	553	c.496delA	c.(496-498)atafs	p.I166fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.I166fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	166					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTATCTGGTATTTTTTTTTTC	0.264								Non-homologous end-joining					---	6	---	---	3	---					
TCERG1L	256536	broad.mit.edu	37	10	133109585	133109587	+	In_Frame_Del	DEL	GCG	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr10:133109585_133109587delGCG	uc001lkp.3	-	0	398_400	c.312_314delCGC	c.(310-315)gccgcg>gcg	p.104_105AA>A		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	104	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gaaggggtgcgcggcggcggcgg	0.818													---	4	---	---	2	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	AAGCCGCTGCCACCTCCA	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	uc001sat.3	-	0	356_357	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													---	5	---	---	3	---					
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr15:40631782delC	uc001zlh.4	-	2	310	c.294delG	c.(292-294)gggfs	p.G98fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													---	244	---	---	7	---					
RTTN	25914	broad.mit.edu	37	18	67844040	67844040	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr18:67844040delG	uc002lkp.2	-	10	1415	c.1347delC	c.(1345-1347)accfs	p.T449fs	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Frame_Shift_Del_p.T449fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	449							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)				GGTAGCACATGGTTTCTCCAA	0.438													---	198	---	---	16	---					
NCOA5	57727	broad.mit.edu	37	20	44691334	44691334	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JD-06A-11D-A20D-08	TCGA-EE-A3JD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc436cf-a5db-4b03-8d89-4104d381fa07	1b1c73a4-cd06-4316-957c-e37b5fc39815	g.chr20:44691334delT	uc002xrd.3	-	6	1873	c.1345delA	c.(1345-1347)agcfs	p.S449fs	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Frame_Shift_Del_p.S449fs	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GATGCAGAGCTGCTATTGGCC	0.552													---	353	---	---	28	---					
