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
EDEM1	9695	broad.mit.edu	37	3	5243454	5243454	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:5243454C>T	uc003bqi.3	+	3	835	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	EDEM1_uc011asz.1_Missense_Mutation_p.L13F|EDEM1_uc021wsl.1_Missense_Mutation_p.L40F	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	235					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GGGAAGCCTCCTTTCTGCTCA	0.398000														83			24		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934556	28934556	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:28934556C>T	uc002kwp.3	+	14	2609	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	DSG1_uc010xbp.2_Silent_p.I158I	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	799					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)			ACCCACCAATCTCCCCACATT	0.507000														116			50		0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749577	33749577	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:33749577A>T	uc002hji.4	-	1	848	c.471T>A	c.(469-471)taT>taA	p.Y157*	SLFN12_uc002hjj.4_Nonsense_Mutation_p.Y157*|SLFN12_uc010cts.3_Nonsense_Mutation_p.Y157*	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	157							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGTCTTAAATACAATCTCC	0.398000														29			18		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111368615	111368615	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:111368615G>A	uc003dxw.3	+	14	1890	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	CD96_uc003dxx.3_Missense_Mutation_p.E558K|CD96_uc010hpy.1_Missense_Mutation_p.E557K	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	574					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGAGCCCAACGAAAGTGATCT	0.463000									Opitz Trigonocephaly syndrome					102			37		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597551	31597551	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31597551C>T	uc003nvb.4	+	13	2432	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P728L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	728	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ATGATTCCTCCTTATGTGGAC	0.632000														58			28		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814194	214814194	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:214814194C>T	uc001hkm.3	+	11	2687	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	838					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTTGAATTTTCATTAGAGTCT	0.388000														39			11		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74396312	74396312	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:74396312G>A	uc002jrm.4	-	7	1136	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	UBE2O_uc002jrn.4_Silent_p.F357F|UBE2O_uc002jrl.4_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	357							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTTGGCTGGGAAGACATACA	0.582000														30			62		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530266	5530266	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:5530266G>A	uc021qcw.1	-	0	523	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.P175S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	175										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGAAGGGGTCATCAATG	0.572000														78			32		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89524524	89524524	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:89524524C>T	uc001dmx.2	-	5	851	c.631_splice	c.e5+1	p.G211_splice		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	211					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCTCTGTTACCTTTCTTCAGC	0.408000														66			76		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662882	77662882	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:77662882G>A	uc011cbx.2	+	4	4509	c.3556G>A	c.(3556-3558)Ggg>Agg	p.G1186R	SHROOM3_uc011cbz.1_Missense_Mutation_p.G1010R|SHROOM3_uc003hkf.1_Missense_Mutation_p.G1061R|SHROOM3_uc003hkg.3_Missense_Mutation_p.G964R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1186					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACGGCGACGCGGGGACCTGCT	0.706000														5			4		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508044	71508044	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:71508044G>A	uc011caw.1	+	8	1182	c.901G>A	c.(901-903)Gga>Aga	p.G301R		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	301					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)			TTCAGGCCAGGGAGGGCCAGG	0.493000														79			31		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6958589	6958589	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:6958589C>T	uc002knm.3	-	54	7945	c.7851G>A	c.(7849-7851)acG>acA	p.T2617T	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.T70T|LAMA1_uc010wzj.2_Silent_p.T2093T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2617	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	p.T2617T(2)		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)	ACACATTTATCGTCCTGCTTT	0.428000														38			10		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152499796	152499796	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:152499796C>T	uc021vrb.1	-	55	8057	c.8028G>A	c.(8026-8028)gaG>gaA	p.E2676E	NEB_uc002txu.3_Silent_p.E2676E|NEB_uc021vrc.1_Silent_p.E2676E|NEB_uc010fnx.3_Silent_p.E2676E|NEB_uc021vrd.1_Silent_p.E2676E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2676					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)		GTTTATTTTTCTCATCCTCGA	0.413000														92			45		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117707926	117707926	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:117707926C>T	uc004eqp.2	+	11	1397	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	DOCK11_uc004eqq.2_Missense_Mutation_p.S211L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	445					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAGGGCTCTTCACCCGAATCT	0.468000														26			26		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141747609	141747609	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:141747609C>T	uc003vwy.3	+	21	2577	c.2523C>T	c.(2521-2523)atC>atT	p.I841I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	841	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)	TTGGTCTTATCATTGCCCTAG	0.433000														34			19		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411427	126411427	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:126411427C>T	uc003ifj.4	+	16	13450	c.13450C>T	c.(13450-13452)Cct>Tct	p.P4484S	FAT4_uc011cgp.2_Missense_Mutation_p.P2725S|FAT4_uc003ifi.1_Missense_Mutation_p.P1961S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4484					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						AGCTGGAAGTCCTGCGGGGCA	0.612000														94			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516237	179516237	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179516237G>A	uc021vsy.1	-	160	32413	c.32188C>T	c.(32188-32190)Cct>Tct	p.P10730S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11657	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTTCAGGAACAACCTCC	0.468000														61			31		0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014134	127014134	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:127014134G>A	uc010lla.2	-	4	1968	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	ZNF800_uc003vlw.1_Missense_Mutation_p.S322L|ZNF800_uc003vlx.1_Missense_Mutation_p.S419L|ZNF800_uc003vly.1_Missense_Mutation_p.S419L	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGAAGGGGGTGAAGATTCTAC	0.353000														59			22		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25027774	25027774	+	Missense_Mutation	SNP	G	A	A	rs35274308	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:25027774G>A	uc001upl.3	-	22	2883	c.2777C>T	c.(2776-2778)tCg>tTg	p.S926L	PARP4_uc010tdc.2_Missense_Mutation_p.S926L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	926	VWFA.				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)		CTTAGGATACGAAAATAGCTC	0.423000														75			24		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672577	151672577	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:151672577G>A	uc011eep.2	+	3	3291	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E	AKAP12_uc003qoe.3_Silent_p.E1017E|AKAP12_uc003qof.3_Silent_p.E919E|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.E912E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1017					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACACCACAGAGGAGGCCACTC	0.562000														35			23		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898079	159898079	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:159898079G>A	uc001fur.2	-	18	3297	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	IGSF9_uc001fuq.2_Silent_p.F1017F|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.F179F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1033						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCCGCAGGAACGAAGCGC	0.697000														19			9		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655535	19655535	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:19655535C>T	uc002nmw.4	+	7	2284	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	CILP2_uc002nmv.4_Silent_p.F727F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	727						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						GGCGCCTGTTCAATCTGGACG	0.706000														16			9		0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73889492	73889492	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:73889492T>C	uc002avs.3	-	1	507	c.310A>G	c.(310-312)Acc>Gcc	p.T104A	NPTN_uc010bjc.3_Missense_Mutation_p.T104A|NPTN_uc002avt.3_Intron|NPTN_uc002avr.3_Intron|NPTN_uc010ula.2_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	104	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTGAGCCGGGTTATTCTCAGC	0.582000														55			22		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3646845	3646845	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:3646845C>T	uc002fwo.4	-	18	2485	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	796					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)		TCCGTCTGTCCCTCAGGGGTC	0.582000														109			72		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113316988	113316988	+	Silent	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:113316988C>A	uc002thw.2	+	8	2029	c.1449C>A	c.(1447-1449)acC>acA	p.T483T	POLR1B_uc010fkn.2_Silent_p.T427T|POLR1B_uc002thx.2_Silent_p.T344T|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Silent_p.T344T|POLR1B_uc010yxo.1_Silent_p.T260T	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	483					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			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGATGAGGACCACCACAGTAC	0.572000														149			51		1.56793e-16	1.5897e-16	1	1	0
MMS22L	253714	broad.mit.edu	37	6	97702552	97702553	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:97702552_97702553GG>AT	uc003ppb.3	-	9	1265_1266	c.999_1000CC>AT	c.(997-1002)gaccga>gaATga	p.333_334DR>E*	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Nonsense_Mutation_p.333_334DR>E*|MMS22L_uc010kcn.1_Nonsense_Mutation_p.107_108DR>E*|MMS22L_uc003ppc.3_Nonsense_Mutation_p.333_334DR>E*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	333					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						GATCTTCTTCGGTCACTTGATT	0.351000														41			9		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100128082	100128082	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:100128082A>G	uc003yiv.3	+	6	1028	c.917A>G	c.(916-918)gAt>gGt	p.D306G	VPS13B_uc003yiw.3_Missense_Mutation_p.D306G|VPS13B_uc003yit.3_Missense_Mutation_p.D306G|VPS13B_uc003yiu.1_Missense_Mutation_p.D306G|VPS13B_uc003yis.3_Missense_Mutation_p.D306G|VPS13B_uc011lgy.2_Missense_Mutation_p.D182G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	306					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)			CATAATAAAGATATGCTAGGA	0.279000														40			22		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53264572	53264572	+	Silent	SNP	G	A	A	rs145719162		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:53264572G>A	uc003dgo.3	-	7	1180	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	TKT_uc003dgp.2_5'UTR|TKT_uc011beo.1_Silent_p.I289I|TKT_uc003dgq.3_Silent_p.I336I|TKT_uc011beq.2_Silent_p.I344I|TKT_uc011ber.2_Silent_p.I138I	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	336					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CATCCAGGGCGATGATGCGGT	0.582000														55			31		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17434262	17434262	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:17434262C>T	uc001mnc.3	-	20	2633	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	836	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACTGATTCGCTGGCGTTG	0.582000														13			3		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299839	145299839	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:145299839C>T	uc021oul.1	+	5	923	c.888C>T	c.(886-888)cgC>cgT	p.R296R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.R296R|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	296								p.R296H(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAATTGCGCCCCCAGCTGG	0.483000														423			29		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053581	114053581	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:114053581C>G	uc001kzr.1	+	4	569	c.569C>G	c.(568-570)gCc>gGc	p.A190G		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	190	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAGTGGAAGCCAAAGGGTTA	0.383000														39			28		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:100263983G>A	uc021xqi.1	-	5		c.882C>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)	GACTTCAAACGAAAAATCCAC	0.463000														294			97		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154777	9154777	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:9154777G>A	uc003jek.2	-	11	2016	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L		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.	435	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGATTCAGGGGTACCCGCAC	0.512000														96			43		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538850	56538850	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:56538850C>T	uc002qmj.3	+	6	1251	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	NLRP5_uc002qmi.3_Silent_p.L398L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	417	NACHT.					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)		CAGAGAAGCTCAAGTCAGAGG	0.557000														33			25		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171094	51171094	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:51171094T>C	uc021tif.1	-	2	3935	c.3613A>G	c.(3613-3615)Agc>Ggc	p.S1205G	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.S154G	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1302					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)			TTCTCACTGCTTGCCATTTTC	0.572000														43			12		0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292829	102292829	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:102292829C>G	uc010usj.2	+	3	476	c.417C>G	c.(415-417)caC>caG	p.H139Q	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.H139Q(1)									CGAGAAGACACTCGTGGAGGC	0.597000														32			4		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655274	3655274	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:3655274C>T	uc002wit.3	-	5	564	c.477G>A	c.(475-477)aaG>aaA	p.K159K	ADAM33_uc002wir.1_Silent_p.K159K|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Silent_p.K159K|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Silent_p.K171K|ADAM33_uc010zqh.1_Silent_p.K159K	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	159					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGAGAAGTCCTTGGAGCCCC	0.612000														157			52		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169639016	169639016	+	Missense_Mutation	SNP	C	T	T	rs140876134		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:169639016C>T	uc003fgd.3	+	3	368	c.101C>T	c.(100-102)tCc>tTc	p.S34F	SAMD7_uc003fge.3_Missense_Mutation_p.S34F|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	34										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)			GTATTGCCTTCCACCGTAGCT	0.393000														119			52		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064010	1064010	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:1064010C>T	uc003jbu.3	-	19	2754	c.2688G>A	c.(2686-2688)caG>caA	p.Q896Q	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	896					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACAAGAACATCTGCAGGTCCT	0.622000														59			29		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369294	22369295	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:22369294_22369295CC>AT	uc010tzu.2	+	0	817_818	c.719_720CC>AT	c.(718-720)tcc>tAT	p.S240Y	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M239V(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGGGCCATGTCCACCTGCTATT	0.455000														412			28		0	0	1	0	0
VHDJH	0	broad.mit.edu	37	16	32077589	32077589	+	RNA	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:32077589C>T	uc010vfu.2	+	0		c.20C>T								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		AAGGCCGATTCACCATCTCCA	0.517000														560			153		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590618	102590618	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:102590618C>T	uc022bky.1	+	3	1095	c.327C>T	c.(325-327)caC>caT	p.H109H	NR4A3_uc004bae.3_Silent_p.H98H|NR4A3_uc004baf.1_Silent_p.H98H	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	98					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				atcaccatcaccaccaccacc	0.617000			T	EWSR1	extraskeletal myxoid chondrosarcoma									58			4		0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377495	97377495	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:97377495T>C	uc002swv.3	-	6	751	c.715A>G	c.(715-717)Att>Gtt	p.I239V	LMAN2L_uc002swu.3_Missense_Mutation_p.I228V|LMAN2L_uc010yuu.2_Missense_Mutation_p.I92V|LMAN2L_uc010yut.2_Missense_Mutation_p.I94V|LMAN2L_uc010yuv.2_Missense_Mutation_p.I81V|LMAN2L_uc010yuw.2_Missense_Mutation_p.I83V|LMAN2L_uc010yux.2_Missense_Mutation_p.I83V	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	228	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TTGCCATCAATATCCATCATT	0.542000														57			22		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470814	79470814	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:79470814C>T	uc001diq.4	-	1	269	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	38	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.G38E(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GGCTTCAATTCCATTGCGTAT	0.348000														83			23		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856728	13856728	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:13856728T>A	uc010gcf.3	-	11	1142	c.1060A>T	c.(1060-1062)Aat>Tat	p.N354Y	SEL1L2_uc002woq.4_Missense_Mutation_p.N215Y|SEL1L2_uc010zrl.2_Missense_Mutation_p.N354Y|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	354						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTAGCGTTATTTTGCGGCACG	0.358000														127			67		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10913099	10913099	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:10913099G>A	uc003mzo.3	+	14	1308	c.1012_splice	c.e14-1	p.N338_splice	SYCP2L_uc011din.1_Splice_Site_p.N179_splice|SYCP2L_uc010jow.3_Splice_Site	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	338						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTTTCCCAAGAATACTCTAT	0.358000														40			12		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029342	119029342	+	Missense_Mutation	SNP	G	A	A	rs145359289	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:119029342G>A	uc001pvs.3	+	10	1579	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	ABCG4_uc009zar.3_Missense_Mutation_p.D415N	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	415	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCATATTGGCGACGATGCCAG	0.572000														156			81		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36641948	36641948	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:36641948G>A	uc010lvw.3	+	0	107	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	7						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTAAGCTACGAAATGAAACT	0.453000														36			15		0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817525	21817525	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:21817525C>T	uc010vbl.1	-	6	535	c.38G>A	c.(37-39)aGg>aAg	p.R13K	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		TACACTAATCCTTAGTAAGTT	0.284000														14			3		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68695337	68695337	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:68695337C>T	uc010bib.3	-	1	171	c.84G>A	c.(82-84)agG>agA	p.R28R	ITGA11_uc002ari.3_Silent_p.R28R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	28					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCCGGGGCTTCCTGGTGTCCA	0.622000														20			8		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71419532	71419532	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:71419532T>G	uc002faa.4	+	9	760	c.680T>G	c.(679-681)cTg>cGg	p.L227R	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	227	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TTGAAGGATCTGTACGAGAAA	0.577000														35			9		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916904	70916905	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:70916904_70916905CC>TT	uc003pfc.1	+	50	3472_3473	c.3355_3356CC>TT	c.(3355-3357)ccc>TTc	p.P1119F		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1119					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						CCCCCCAGGACCCAGTGGAAGA	0.520000														231			44		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131923439	131923439	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:131923439G>A	uc003qcs.1	-	16	2188	c.2014C>T	c.(2014-2016)Ccc>Tcc	p.P672S	MED23_uc003qcq.3_Missense_Mutation_p.P678S|MED23_uc011eca.1_Missense_Mutation_p.P313S|MED23_uc003qct.1_Missense_Mutation_p.P678S|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	672					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACTGTTTTGGGATCACTAAGG	0.453000														52			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644172	179644172	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179644172G>A	uc021vsy.1	-	22	3972	c.3747C>T	c.(3745-3747)tcC>tcT	p.S1249S	TTN_uc021vsz.1_Silent_p.S1203S|TTN_uc021vta.1_Silent_p.S1203S|TTN_uc021vtb.1_Silent_p.S1203S|TTN_uc002unb.2_Silent_p.S1249S|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1249			S -> L (in dbSNP:rs1552280).				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)			TCTCTTCAAAGGAAGAAATAT	0.294000														15			4		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379675	107379675	+	Missense_Mutation	SNP	C	T	T	rs143297558		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:107379675C>T	uc011lvr.2	-	0	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCCAAGTCATCTGAATTAAGT	0.398000														91			32		0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63519930	63519930	+	Silent	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:63519930G>T	uc010qik.2	+	4	707	c.402G>T	c.(400-402)acG>acT	p.T134T		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	134								p.T134A(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TATTGGATACGGAAATGAAGG	0.383000														17			6		3.59834e-05	3.63569e-05	1	1	0
TREH	11181	broad.mit.edu	37	11	118531981	118531981	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:118531981C>T	uc001pty.1	-	7	790	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	TREH_uc009zaj.1_Missense_Mutation_p.E218K|TREH_uc001ptz.1_Missense_Mutation_p.E126K|TREH_uc009zak.3_Missense_Mutation_p.E249K	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	249					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GCTAGTGTTTCAATGTTTTCC	0.532000														45			21		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:29857360G>A	uc021ytx.1	+	0	256	c.238G>A	c.(238-240)Gag>Aag	p.E80K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.E80K|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GGGTCTGCCCGAGCCCCTCAC	0.612000														72			5		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140881291	140881291	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:140881291C>T	uc004cog.3	+	14	2104	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	CACNA1B_uc022bqn.1_Silent_p.I653I|CACNA1B_uc011mfd.2_Silent_p.I255I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	653					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)	CTGCCGCCATCCTCACTGTCT	0.602000														225			79		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134234221	134234221	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:134234221G>A	uc001qhp.3	+	8	922	c.734_splice	c.e8-1	p.V245_splice	GLB1L2_uc009zdg.1_Splice_Site	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	245					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCTTTAACAGTCTTGGCCAC	0.532000														237			100		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246755189	246755189	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:246755189C>T	uc001ibp.3	+	1	703	c.325C>T	c.(325-327)Cct>Tct	p.P109S	CNST_uc001ibo.4_Missense_Mutation_p.P109S	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	109					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAAAAAAATTCCTGGAAAAAG	0.393000														31			18		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777296	47777296	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:47777296C>T	uc002lee.2	-	4	919	c.828G>A	c.(826-828)aaG>aaA	p.K276K		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	276										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CCTTCTGTTTCTTTAGCATAT	0.383000														127			42		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593679	123593679	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:123593679G>A	uc003vle.3	+	2	494	c.55G>A	c.(55-57)Gga>Aga	p.G19R	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.G19R|SPAM1_uc022aks.1_Missense_Mutation_p.G19R|SPAM1_uc003vlf.4_Missense_Mutation_p.G19R|SPAM1_uc010lku.3_Missense_Mutation_p.G19R	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	19					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	p.S18T(1)		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)	TAAATCAAGTGGAGTATCCCA	0.383000														53			12		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798825	55798825	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:55798825T>G	uc010riw.2	+	0	931	c.931T>G	c.(931-933)Tca>Gca	p.S311A		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S311P(2)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AATTGGATATTCAAATGAATG	0.284000														39			14		0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130883526	130883526	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:130883526C>T	uc004bti.3	-	6	1510	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	LOC100289019_uc004btg.1_5'Flank|PTGES2_uc004btk.3_Missense_Mutation_p.M153I|PTGES2_uc004btl.3_Missense_Mutation_p.M153I	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.	344	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CCAGCCCCTCCATCACACGCA	0.622000														13			4		0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292801	102292801	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:102292801C>A	uc010usj.2	+	3	448	c.389C>A	c.(388-390)aCc>aAc	p.T130N	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.T130N(1)									TGCTGTCCAACCTGCACTCGC	0.597000														48			3		0.115264	0.115396	1	1	0
PROC	5624	broad.mit.edu	37	2	128183787	128183787	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:128183787G>A	uc002tol.3	+	6	752	c.725G>A	c.(724-726)gGa>gAa	p.G242E	PROC_uc002tok.3_Missense_Mutation_p.G221E|PROC_uc010yzi.2_Missense_Mutation_p.G277E|PROC_uc010yzj.2_Missense_Mutation_p.G116E|PROC_uc010yzk.2_Missense_Mutation_p.G276E|MIR4783_uc021vno.1_5'Flank	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	221	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACCAGGCGGGGAGACAGCCCC	0.602000														87			50		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99520598	99520598	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:99520598G>A	uc001vnt.2	-	27	3035	c.2980C>T	c.(2980-2982)Cat>Tat	p.H994Y	DOCK9_uc001vnw.2_Missense_Mutation_p.H993Y|DOCK9_uc021rlw.1_Missense_Mutation_p.H993Y|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.H994Y|DOCK9_uc010tis.1_Missense_Mutation_p.H993Y|DOCK9_uc010tit.1_Missense_Mutation_p.H994Y|DOCK9_uc010tiq.1_5'Flank|DOCK9_uc010afu.1_Missense_Mutation_p.H840Y	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	994					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCATGATGATAGGATGCA	0.383000														20			5		0	0	1	0	0
GLTP	51228	broad.mit.edu	37	12	110293508	110293508	+	Silent	SNP	G	A	A	rs148094807		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:110293508G>A	uc001tpm.3	-	3	477	c.363C>T	c.(361-363)ccC>ccT	p.P121P		NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	Homo sapiens glycolipid transfer protein (GLTP), mRNA.	121						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GGATGAGGTTGGGGTGGTTCT	0.607000														70			21		0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899666	128899666	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:128899666G>A	uc021rgn.1	+	1	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	159						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CAGAGACTGGGATGACCACGG	0.582000														9			9		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801924	125801924	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:125801924G>A	uc001lhn.3	-	3	1660	c.926C>T	c.(925-927)cCc>cTc	p.P309L	CHST15_uc001lhm.3_Missense_Mutation_p.P309L|CHST15_uc010que.2_Missense_Mutation_p.P309L|CHST15_uc001lho.3_Missense_Mutation_p.P309L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	309					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ATCTTCCACGGGATAGCGGTC	0.532000														38			23		0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170108836	170108836	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:170108836T>G	uc003fgu.3	+	5	2396	c.1684T>G	c.(1684-1686)Ttg>Gtg	p.L562V	SKIL_uc011bps.2_Missense_Mutation_p.L542V|SKIL_uc003fgv.3_Missense_Mutation_p.L516V|SKIL_uc003fgw.3_Missense_Mutation_p.L562V	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	562					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGTAAAAATGTTGAGTAGTTC	0.313000														33			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886493	228886493	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:228886493C>T	uc002vpq.2	-	5	678	c.631G>A	c.(631-633)Gag>Aag	p.E211K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E211K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E211K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	211						cytoplasm	protein binding	p.I210I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTCTTCCTCGATTGAAGAT	0.468000														73			29		0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3495020	3495020	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:3495020G>A	uc003ghd.3	+	6	1377	c.1307G>A	c.(1306-1308)gGc>gAc	p.G436D	DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_Missense_Mutation_p.A178T|DOK7_uc003ghg.1_Missense_Mutation_p.G126D	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	436					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GACTCAGGCGGCCAGACGTCC	0.716000														27			10		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496663	20496663	+	RNA	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:20496663G>A	uc001ytf.1	+	5		c.716G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AAAGCGCCCGGCTGTGTGTGC	0.433000														126			8		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31303115	31303115	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:31303115C>T	uc010sjy.1	-	7	926	c.926G>A	c.(925-927)gGa>gAa	p.G309E						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAGTAATTTCCTGTCCCAAA	0.363000														47			26		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113637807	113637807	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:113637807C>T	uc011lwo.2	-	2	994	c.992G>A	c.(991-993)cGc>cAc	p.R331H	LPAR1_uc004bfa.3_Missense_Mutation_p.R330H|LPAR1_uc011lwm.2_Missense_Mutation_p.R331H|LPAR1_uc004bfc.3_Missense_Mutation_p.R330H|LPAR1_uc011lwn.2_Missense_Mutation_p.R312H|LPAR1_uc004bfb.3_Missense_Mutation_p.R330H|LPAR1_uc010mub.3_Missense_Mutation_p.R330H	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	330					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTTCTCACTGCGCTGGCAGCA	0.557000														114			48		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861869	131861869	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:131861869G>A	uc003ytd.4	-	9	2647	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	797					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	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)			TGGCACCCAGGAAATTAATCA	0.453000										HNSCC(32;0.087)				47			25		0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154746077	154746077	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:154746077G>A	uc022aqg.1	-	15	2752	c.2709C>T	c.(2707-2709)ctC>ctT	p.L903L	PAXIP1_uc022aqf.1_Silent_p.L903L|PAXIP1_uc022aqh.1_Silent_p.L869L|PAXIP1_uc022aqi.1_Silent_p.L867L	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	903	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGCTGGCAATGAGGTGTGTGC	0.502000														42			36		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931225	13931225	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13931225C>T	uc003jfd.2	-	1	228	c.186G>A	c.(184-186)ggG>ggA	p.G62G	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	62	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)					CCACCTGATTCCCTTCAAGAA	0.502000									Kartagener syndrome					62			30		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169622328	169622328	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:169622328C>T	uc003qwt.3	-	19	3485	c.3237G>A	c.(3235-3237)agG>agA	p.R1079R		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	1079	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACAGCGCGTTCCTCAGGTGCT	0.667000														49			29		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71755525	71755525	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:71755525G>A	uc010fen.3	+	13	1515	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	DYSF_uc010fei.3_Silent_p.G457G|DYSF_uc010feh.3_Silent_p.G426G|DYSF_uc002sig.4_Silent_p.G426G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G457G|DYSF_uc010fee.3_Silent_p.G426G|DYSF_uc010fef.3_Silent_p.G457G|DYSF_uc002sie.3_Silent_p.G426G|DYSF_uc010feo.3_Silent_p.G458G|DYSF_uc010fej.3_Silent_p.G427G|DYSF_uc010fel.3_Silent_p.G427G|DYSF_uc010fem.3_Silent_p.G427G|DYSF_uc002sif.3_Silent_p.G427G|DYSF_uc010fek.3_Silent_p.G458G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	426	C2 3.					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						GCTTTGCGGGGAAAATGGTAA	0.552000														26			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411405	126411405	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:126411405G>A	uc003ifj.4	+	16	13428	c.13428G>A	c.(13426-13428)ggG>ggA	p.G4476G	FAT4_uc011cgp.2_Silent_p.G2717G|FAT4_uc003ifi.1_Silent_p.G1953G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4476					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						GTCCTCAGGGGAAGGTGTGCA	0.612000														81			38		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100367345	100367345	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:100367345G>A	uc001ygr.3	+	9	1103	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	EML1_uc010avt.1_Missense_Mutation_p.R313Q|EML1_uc010tww.2_Missense_Mutation_p.R314Q|EML1_uc001ygq.3_Missense_Mutation_p.R345Q|EML1_uc001ygs.3_Missense_Mutation_p.R326Q	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	326						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTTTTGACCGAGCAGTCACC	0.438000														86			40		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422547	57422547	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:57422547G>A	uc001cyp.3	-	2	353	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	C8B_uc010oon.2_Missense_Mutation_p.H34Y|C8B_uc010ooo.2_Missense_Mutation_p.H44Y	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	96	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.F95L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGTTCCCCATGGAACTGAGAG	0.517000														198			56		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853587	88853587	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:88853587G>A	uc010kbz.3	-	1	1537	c.1407C>T	c.(1405-1407)gcC>gcT	p.A469A	CNR1_uc011dzr.2_Silent_p.A469A|CNR1_uc011dzs.2_Silent_p.A469A|CNR1_uc003pmq.4_Silent_p.A469A|CNR1_uc011dzt.2_Silent_p.A469A|CNR1_uc010kca.3_Silent_p.A436A|CNR1_uc021zco.1_Silent_p.A469A	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	469					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)	ACAGAGCCTCGGCAGACGTGT	0.468000														191			61		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753449	160753449	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:160753449G>A	uc003lys.1	-	9	1335	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	373					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)	cacaaggatcgatattgggtc	0.383000														23			22		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170028587	170028587	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:170028587G>A	uc002ues.3	-	57	11414	c.11201C>T	c.(11200-11202)cCt>cTt	p.P3734L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3734	LDL-receptor class A 31.				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)	CCAACGAAGAGGGATGCAGTG	0.468000														75			31		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569274	130569274	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:130569274C>T	uc004bsg.1	+	4	459	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Missense_Mutation_p.R137W|FPGS_uc004bsi.1_Missense_Mutation_p.R87W	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	137					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGTGCAGGTTCGGGAGCGGAT	0.642000														79			34		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21904191	21904191	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:21904191G>A	uc003svc.3	+	70	11464	c.11433G>A	c.(11431-11433)ttG>ttA	p.L3811L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3811					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						CTCTTGAATTGGATTTCCTGC	0.383000									Kartagener syndrome					52			55		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938825	47938825	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:47938825C>T	uc003gxu.3	-	9	2034	c.1893G>A	c.(1891-1893)acG>acA	p.T631T	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.T562T	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	562					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATATTGGCCGTTCTTCGAT	0.443000														144			53		0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145748789	145748789	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:145748789G>C	uc003zdm.3	-	4	744	c.612C>G	c.(610-612)aaC>aaG	p.N204K	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	204	LRRCT.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGCCATGGGTTCTCTGTGG	0.622000														34			11		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110813696	110813696	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:110813696G>A	uc001vqw.4	-	48	4605	c.4483C>T	c.(4483-4485)Cgc>Tgc	p.R1495C		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1495	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGAACTTGCGCAGGCAGCTG	0.468000														13			10		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43543152	43543152	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:43543152C>T	uc002zag.1	+	15	3423	c.3423C>T	c.(3421-3423)ccC>ccT	p.P1141P	UMODL1_uc002zad.1_Silent_p.P941P|UMODL1_uc002zae.1_Silent_p.P1069P|UMODL1_uc002zaf.1_Silent_p.P1013P|UMODL1_uc002zal.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1013	ZP.					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						AATCCATCCCCGAGTCCTCGT	0.627000														72			23		0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918442	154918442	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:154918442G>A	uc001ffr.3	-	9	1767	c.1708C>T	c.(1708-1710)Ccc>Tcc	p.P570S	PBXIP1_uc001ffs.3_Missense_Mutation_p.P541S|PBXIP1_uc010pep.2_Missense_Mutation_p.P415S	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	570					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	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)			GATGGCAGGGGGTCATGGCTG	0.617000														134			71		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182403895	182403895	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:182403895C>T	uc002unx.3	-	12	1641	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.E488K|CERKL_uc010zfm.2_Missense_Mutation_p.E470K|CERKL_uc002unz.3_Missense_Mutation_p.E236K|CERKL_uc002uoa.3_Missense_Mutation_p.E419K|CERKL_uc002uob.3_Missense_Mutation_p.E236K|CERKL_uc002uoc.3_Missense_Mutation_p.E375K|CERKL_uc021vth.1_Missense_Mutation_p.E283K|CERKL_uc021vti.1_Missense_Mutation_p.E236K|CERKL_uc021vtj.1_Missense_Mutation_p.E191K|CERKL_uc021vtk.1_Missense_Mutation_p.E236K|CERKL_uc021vtl.1_Missense_Mutation_p.E191K|CERKL_uc021vtm.1_Missense_Mutation_p.E283K|CERKL_uc002uod.2_Missense_Mutation_p.E283K|CERKL_uc002unw.3_Missense_Mutation_p.E84K	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	514			E -> G (in dbSNP:rs35955809).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAAGCAGTTTCATCCTCCTCC	0.373000														88			34		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239753	134239753	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:134239753G>A	uc003yub.3	+	4	1010	c.904G>A	c.(904-906)Gga>Aga	p.G302R	WISP1_uc003yuc.3_Missense_Mutation_p.G215R|WISP1_uc010meb.3_Missense_Mutation_p.G130R|WISP1_uc010mec.3_Nonsense_Mutation_p.W150*|WISP1_uc010med.3_Missense_Mutation_p.G57R|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	302	CTCK.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAAGTACTGTGGAGTTTGCAT	0.547000														101			26		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253276	24253276	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:24253276C>T	uc003xdz.2	+	4	627	c.407C>T	c.(406-408)tCt>tTt	p.S136F	ADAMDEC1_uc010lub.2_Missense_Mutation_p.S57F|ADAMDEC1_uc011lab.1_Missense_Mutation_p.S57F	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	136					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S136Y(2)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAAAGAATTCTGTTGCCAGC	0.368000														35			18		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450578	105450578	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:105450578T>C	uc022cca.1	+	0	1153	c.1153T>C	c.(1153-1155)Tat>Cat	p.Y385H	MUM1L1_uc004emg.2_Missense_Mutation_p.Y385H|MUM1L1_uc004emf.2_Missense_Mutation_p.Y385H	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	385								p.H384Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATTTTACATTATGAGACACA	0.378000														7			12		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499933	104499933	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:104499933G>A	uc004bbp.2	-	0	930	c.329C>T	c.(328-330)tCc>tTc	p.S110F	GRIN3A_uc004bbq.1_Missense_Mutation_p.S110F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	110					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)	GGGCTTACGGGAGCCCGGCGG	0.746000														19			16		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158242658	158242658	+	Silent	SNP	G	A	A	rs34909207	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:158242658G>A	uc003ipm.4	+	5	1248	c.789G>A	c.(787-789)gtG>gtA	p.V263V	GRIA2_uc011cit.2_Silent_p.V216V|GRIA2_uc021xtr.1_Silent_p.V263V|GRIA2_uc003ipl.4_Silent_p.V263V|GRIA2_uc003ipk.4_Silent_p.V216V|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	263					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTCAGATAGTGGACTATGATG	0.363000														99			42		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484530	43484530	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:43484530G>A	uc003tid.1	+	10	2364	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	HECW1_uc011kbi.1_Missense_Mutation_p.E587K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	587					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						CGGCGCGGAGGAGGAGTCCAC	0.682000														58			23		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33565867	33565867	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:33565867C>T	uc021qfs.1	+	0	1991	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	C11orf41_uc001mun.1_Missense_Mutation_p.P623S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	623						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TTCTCAGCACCCCAAGAAATG	0.502000														97			41		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715526	139715526	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:139715526C>T	uc011kqv.2	+	11	1606	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	TBXAS1_uc003vvh.3_Silent_p.F411F|TBXAS1_uc010lne.3_Silent_p.F343F|TBXAS1_uc011kqu.2_Silent_p.F362F|TBXAS1_uc003vvi.3_Silent_p.F411F|TBXAS1_uc011kqw.2_Silent_p.F391F|TBXAS1_uc003vvj.3_Silent_p.F411F	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	410					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)					CCCTCAGATTCACACGGGAGG	0.637000														90			41		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666023	157666023	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:157666023C>T	uc001fqz.4	-	6	1231	c.939G>A	c.(937-939)caG>caA	p.Q313Q	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.Q39Q|FCRL3_uc001frb.3_Silent_p.Q313Q|FCRL3_uc001frc.1_Silent_p.Q313Q	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	313	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.Q313E(1)		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)					TCCCTGAACCCTGGGCTACTG	0.522000														96			46		0	0	1	0	0
CXCL14	9547	broad.mit.edu	37	5	134910355	134910355	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:134910355G>A	uc003lay.3	-	2	692	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_004887	NP_004878	O95715	CXL14_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 14 (CXCL14), mRNA.	76					cell-cell signaling|chemotaxis|immune response|signal transduction	Golgi apparatus|extracellular space	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGGTACCTGGACACGCTCTT	0.582000														23			18		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690583	77690583	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:77690583G>A	uc003yau.2	+	3	3620	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	ZFHX4_uc003yaw.1_Missense_Mutation_p.R1052Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1052						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1078R(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)			GAGGGCCTACGGAAGCTCCAG	0.498000										HNSCC(33;0.089)				178			41		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34889332	34889332	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:34889332G>A	uc002yrz.3	-	15	2382	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	GART_uc002yrx.3_Missense_Mutation_p.P691S|GART_uc010gmd.3_Missense_Mutation_p.P353S|GART_uc002yry.3_Missense_Mutation_p.P691S	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	691	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	p.P691P(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGGACTCTGGGGATGTTCTCT	0.438000														97			36		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108695270	108695270	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:108695270C>T	uc022cch.1	-	3	1539	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.G485E	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	485					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTAAGCAAATCCATTAATAGA	0.383000														15			20		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639116	3639116	+	Missense_Mutation	SNP	G	A	A	rs112694849		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3639116G>A	uc002cvp.2	-	11	5150	c.4523C>T	c.(4522-4524)tCg>tTg	p.S1508L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1508	Interaction with MUS81.|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						CCACAGAGCCGAATTCAGAAA	0.632000								Direct reversal of damage						200			79		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904083	21904083	+	RNA	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:21904083C>A	uc002gza.2	+	0		c.22C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgacctctccacggggtcca	0.677000														38			5		0.0215528	0.0216268	1	1	0
RAD54L2	23132	broad.mit.edu	37	3	51669729	51669729	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:51669729G>A	uc011bdt.2	+	8	1388	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_Silent_p.P115P|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	421	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAGGTAGACCGAAGAAAACCA	0.512000														19			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411033	179411033	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179411033G>A	uc021vsy.1	-	290	87546	c.87321C>T	c.(87319-87321)atC>atT	p.I29107I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I22802I|TTN_uc021vta.1_Silent_p.I22735I|TTN_uc021vtb.1_Silent_p.I22610I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30034	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGAACTTGATCACAGCAG	0.448000														150			65		0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40588573	40588573	+	Silent	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:40588573T>C	uc004dex.4	-	1	380	c.240A>G	c.(238-240)gaA>gaG	p.E80E	MED14_uc010nhe.1_5'UTR	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	80					androgen 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|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATACTCACCTTTCCACATCAG	0.363000														17			3		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296450	238296450	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:238296450G>A	uc002vwl.2	-	3	1372	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	COL6A3_uc002vwo.2_Missense_Mutation_p.R157C|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.R157C|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.R363C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	363	Nonhelical region.|VWFA 2.				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)		ACCCCGTAGCGAATCTCGTCA	0.627000														34			15		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587996	247587996	+	Silent	SNP	C	T	T	rs139852370		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:247587996C>T	uc001icr.3	+	4	1389	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	NLRP3_uc001ics.3_Silent_p.I417I|NLRP3_uc001icu.3_Silent_p.I417I|NLRP3_uc001icw.3_Silent_p.I417I|NLRP3_uc001icv.3_Silent_p.I417I|NLRP3_uc010pyw.2_Silent_p.I415I|NLRP3_uc001ict.1_Silent_p.I415I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	417	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	p.W416S(1)		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)			TCTGCTGGATCGTGTGCACTG	0.552000														72			24		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97045526	97045526	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:97045526C>T	uc021rcc.1	+	2	386	c.308C>T	c.(307-309)cCa>cTa	p.P103L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	103										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						TCTGTTTTACCATTCTATTTG	0.313000														36			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179589021	179589021	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179589021C>T	uc021vsy.1	-	68	17574	c.17349G>A	c.(17347-17349)ggG>ggA	p.G5783G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2444G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6710	Ig-like 38.						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)			AGCTGCTTTTCCCAACATTAT	0.383000														28			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717512	13717512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13717512C>T	uc003jfd.2	-	72	12659	c.12617G>A	c.(12616-12618)tGg>tAg	p.W4206*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W374*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4206	AAA 6 (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)					GGGGATATTCCACCCCAGGGC	0.547000									Kartagener syndrome					37			16		0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69134278	69134278	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:69134278G>A	uc003dnr.3	+	0	189	c.80G>A	c.(79-81)aGg>aAg	p.R27K		NM_006407	NP_006398	O75915	PRAF3_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA.	27					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CCGGACTTCAGGGACATTTCC	0.537000														80			24		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259502	151259502	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151259502C>T	uc001exq.3	+	1	833	c.735C>T	c.(733-735)gcC>gcT	p.A245A	ZNF687_uc001exp.1_Silent_p.A254A|ZNF687_uc009wmo.3_Silent_p.A245A|ZNF687_uc009wmp.3_Silent_p.A245A	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	245	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTAAGGCCACGGACATCC	0.637000														146			54		0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044939	33044940	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:33044939_33044940GG>AA	uc011kal.2	+	10	2029_2030	c.1848_1849GG>AA	c.(1846-1851)caggaa>caAAaa	p.E617K	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.E564K|FKBP9_uc011kam.2_Missense_Mutation_p.E332K	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	564					protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TCAAAGACCAGGAAGCCAAACA	0.515000														59			15		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144906172	144906172	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:144906172G>A	uc021ouh.1	-	18	2763	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P821S|PDE4DIP_uc001elx.4_Missense_Mutation_p.P887S|PDE4DIP_uc001emd.2_Missense_Mutation_p.P821S|PDE4DIP_uc001emc.2_Missense_Mutation_p.P821S|PDE4DIP_uc001emb.1_Missense_Mutation_p.P984S|PDE4DIP_uc001eme.1_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	821					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTCTTCAGGATCAACCAGT	0.403000			T	PDGFRB	MPD									61			27		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55220249	55220249	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:55220249C>T	uc003tqk.3	+	5	885	c.639C>T	c.(637-639)atC>atT	p.I213I	EGFR_uc003tqh.3_Silent_p.I213I|EGFR_uc003tqi.3_Silent_p.I213I|EGFR_uc003tqj.3_Silent_p.I213I|EGFR_uc022adm.1_Silent_p.I213I|EGFR_uc010kzg.2_Silent_p.I168I|EGFR_uc022adn.1_Silent_p.I168I|EGFR_uc011kco.2_Silent_p.I160I|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	213					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	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGACCAAAATCATCTGTGCCC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				326			127		0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122091042	122091042	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:122091042C>T	uc001uax.3	-	3	758	c.587G>A	c.(586-588)gGg>gAg	p.G196E	MORN3_uc001uay.3_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	196										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GATCATCGTCCCGCATTTGGC	0.617000														38			15		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586468	169586468	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:169586468C>T	uc001ggi.4	-	2	344	c.279G>A	c.(277-279)ggG>ggA	p.G93G	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Silent_p.G93G	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	93	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCTTTCGGATCCCAATCCAGT	0.443000														157			75		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140312	94140312	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:94140312G>A	uc001dpz.3	-	1	450	c.175C>T	c.(175-177)Cct>Tct	p.P59S	BCAR3_uc001dqa.3_Missense_Mutation_p.P59S|BCAR3_uc001dqb.3_Missense_Mutation_p.P59S	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	59					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	p.P58H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTTATGGGAGGAGGACCTTTT	0.567000														30			26		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433547	69433547	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:69433547A>T	uc021xov.1	-	0	699	c.656T>A	c.(655-657)cTt>cAt	p.L219H		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	219					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GTCAAAATAAAGCATATATAT	0.343000														150			69		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318628	153318628	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:153318628G>A	uc001fbo.3	-	2	154	c.89C>T	c.(88-90)tCa>tTa	p.S30L	PGLYRP4_uc001fbp.3_Missense_Mutation_p.S30L	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	30					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCCCTCTGATACCTGTTT	0.473000														177			64		0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47684697	47684697	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:47684697A>G	uc002ipg.3	-	7	1049	c.752T>C	c.(751-753)tTt>tCt	p.F251S	SPOP_uc010dbk.3_Missense_Mutation_p.F251S|SPOP_uc002ipb.3_Missense_Mutation_p.F251S|SPOP_uc002ipc.3_Missense_Mutation_p.F251S|SPOP_uc002ipd.3_Missense_Mutation_p.F251S|SPOP_uc002ipe.3_Missense_Mutation_p.F251S|SPOP_uc002ipf.3_Missense_Mutation_p.F251S	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	251	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTCCTTAAAAACTTCAGG	0.388000										Prostate(2;0.17)				33			52		0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43015929	43015929	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:43015929G>A	uc003bcz.3	-	8	840	c.756C>T	c.(754-756)ttC>ttT	p.F252F	CYB5R3_uc011aps.2_Silent_p.F285F|CYB5R3_uc021wqn.1_Silent_p.F229F|CYB5R3_uc003bcy.3_Silent_p.F229F|CYB5R3_uc003bcx.3_Silent_p.F229F	NM_000398	NP_000389	P00387	NB5R3_HUMAN	Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant 1, mRNA.	252					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	CCTCATTCACGAAGCCCTGGC	0.632000														11			3		0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118184587	118184587	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:118184587G>A	uc001psq.4	+	6	774	c.518G>A	c.(517-519)aGg>aAg	p.R173K		NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	173					G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGCAGGCAAAGGGGTAAGGCT	0.602000														40			15		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31818595	31818595	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:31818595C>T	uc001zfq.3	-	5	922	c.829G>A	c.(829-831)Gag>Aag	p.E277K	OTUD7A_uc001zfr.3_Missense_Mutation_p.E284K	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	277	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTGCGCGGCTCGCTGGAGGCC	0.682000														17			3		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062378	107062378	+	RNA	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:107062378G>A	uc021ser.1	-	150		c.6608C>T								Parts of antibodies, mostly variable regions.																		CAGGGTCTCCGAAGGCTTCAC	0.632000														73			19		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812100	158812100	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:158812100G>A	uc001fsz.1	+	1	357	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	53	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGATTTGATGGAAAAAAAGTT	0.328000														58			23		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82321712	82321712	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:82321712C>T	uc004ald.3	+	10	1662	c.813C>T	c.(811-813)ggC>ggT	p.G271G	TLE4_uc004alc.3_Silent_p.G278G|TLE4_uc010mpr.3_Silent_p.G157G|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.G246G|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Silent_p.G217G	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGAGAATGGCCTAGACAAGA	0.502000														94			56		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751671	76751671	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:76751671G>A	uc003pik.1	-	1	370	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	80					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)				CCTGTGGACAGACTTTAACCC	0.368000														68			22		0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515089	28515089	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:28515089T>C	uc002dqc.3	-	2	253	c.230A>G	c.(229-231)aAc>aGc	p.N77S	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	77					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GAGGTACAGGTTCACTCCTGG	0.647000														39			18		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190243	17190243	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:17190243G>A	uc001mmq.4	-	0	1111	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.A349V|PIK3C2A_uc009ygv.1_Missense_Mutation_p.A349V	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	349					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ATGGCCCTGGGCTTTTGCAAG	0.343000														80			37		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697297	111697297	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:111697297C>T	uc003puy.4	-	12	2602	c.2261G>A	c.(2260-2262)aGa>aAa	p.R754K	REV3L_uc003pux.4_Missense_Mutation_p.R676K|REV3L_uc003puz.4_Missense_Mutation_p.R676K	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	754					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)		CACCATAGTTCTATTCTCCCC	0.343000								DNA polymerases (catalytic subunits)						94			26		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386971	121386972	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:121386971_121386972GG>AA	uc010hrc.3	-	18	9496_9497	c.9370_9371CC>TT	c.(9370-9372)ccc>TTc	p.P3124F	GOLGB1_uc003eei.4_Missense_Mutation_p.P3114F|GOLGB1_uc003eej.4_Missense_Mutation_p.P3080F|GOLGB1_uc021xcy.1_Missense_Mutation_p.P3039F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	3114					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTTCCTGGGGAGCTCCTGGA	0.455000														36			11		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681156	44681156	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:44681156C>T	uc002oys.3	+	5	1921	c.1741C>T	c.(1741-1743)Cat>Tat	p.H581Y	ZNF226_uc002oyp.3_Missense_Mutation_p.H581Y|ZNF226_uc002oyq.3_Missense_Mutation_p.H464Y|ZNF226_uc002oyr.3_Missense_Mutation_p.H464Y|ZNF226_uc002oyt.3_Missense_Mutation_p.H581Y	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CCAGCTGATCCATACGGGTGA	0.453000														172			42		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975471	19975471	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:19975471C>T	uc003cbl.4	-	0	236	c.40G>A	c.(40-42)Gat>Aat	p.D14N	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	14					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTCCTAAATCATCCTTTCCT	0.483000														11			15		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40704410	40704410	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:40704410G>A	uc002ona.3	+	1	1099	c.811G>A	c.(811-813)Gcg>Acg	p.A271T		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	271	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCTGGATGGCGCCGGAGGT	0.632000														73			12		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43220597	43220597	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:43220597G>A	uc003ouq.1	+	2	508	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	77	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)			CCTCAAGATGGAGGTGGCCGT	0.587000														106			32		0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131709	136131709	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:136131709C>T	uc004cda.1	-	7	431	c.406G>A	c.(406-408)Gcg>Acg	p.A136T	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	137					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGCTTCTCCGCCGTCTCCAGG	0.697000														105			35		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635061	33635061	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:33635061C>T	uc001uus.3	+	3	1853	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	615	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			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)		ACCACACCATCCTGCAGTACT	0.582000														100			34		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133073771	133073771	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:133073771G>A	uc003qdt.3	-	3	666	c.655C>T	c.(655-657)Cct>Tct	p.P219S	VNN2_uc003qds.3_Intron|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.P166S	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	219	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)		GTAACACCAGGATCATAGAAG	0.438000														130			41		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18491603	18491603	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:18491603C>T	uc002wra.2	+	1	585	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	SEC23B_uc010zsb.2_Missense_Mutation_p.L42F|SEC23B_uc002wrb.2_Missense_Mutation_p.L42F|SEC23B_uc002wqz.2_Missense_Mutation_p.L42F|SEC23B_uc002wrc.2_Missense_Mutation_p.L42F	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	42					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGCTTGTCTCCTTACTCCTTT	0.502000														104			48		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12645692	12645693	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:12645692_12645693GG>AA	uc003bxf.4	-	6	1191_1192	c.776_777CC>TT	c.(775-777)tcc>tTT	p.S259F	RAF1_uc011aut.2_Missense_Mutation_p.S44F|RAF1_uc011auu.2_Missense_Mutation_p.S177F	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	259			S -> A (in an ovarian serous carcinoma sample; somatic mutation).|S -> F (in NS5).		Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S259A(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CATTAGGTGTGGATGTCGACCT	0.520000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					68			32		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173341226	173341226	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:173341226C>T	uc002uhp.1	+	8	1576	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	ITGA6_uc010zdy.1_Missense_Mutation_p.S339L|ITGA6_uc002uho.1_Missense_Mutation_p.S458L|ITGA6_uc010fqm.1_Missense_Mutation_p.S104L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	497					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTCTCAGATTCAGTAACTATT	0.353000														68			14		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170038842	170038842	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:170038842C>T	uc003isa.1	-	8	1944	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	SH3RF1_uc010irc.1_Missense_Mutation_p.G237R	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	537	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCAGGCCCTCCTGCCGTGGAA	0.587000														50			19		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31922526	31922526	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31922526G>A	uc003nyk.3	-	6	752	c.548C>T	c.(547-549)cCc>cTc	p.P183L	RDBP_uc011dot.2_Missense_Mutation_p.P153L|RDBP_uc021yvb.1_Missense_Mutation_p.P178L	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	183					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						GCGGCTTCGGGGAGGGGAGGC	0.657000														66			25		0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68330389	68330389	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:68330389G>A	uc002evt.2	+	9	1555	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Silent_p.K414K|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.	414					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|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TCCGCTGGAAGGAGCCCAAGC	0.577000														119			48		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367541	142367541	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:142367541G>A	uc022bby.1	-	0	483	c.483C>T	c.(481-483)tgC>tgT	p.C161C	GPR20_uc003ywf.3_Silent_p.C161C	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	161						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CAGGCTGGCGGCAGCGGCGGG	0.692000														9			13		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202569573	202569573	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:202569573G>A	uc001gye.3	-	6	1024	c.831C>T	c.(829-831)tcC>tcT	p.S277S	SYT2_uc010pqb.2_Silent_p.S277S|SYT2_uc009xaf.3_Silent_p.S107S	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	277	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CATAGCGCAGGGAGGTGCAGA	0.597000											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			38		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38792312	38792312	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:38792312C>T	uc001zke.4	-	13	1890	c.1712G>A	c.(1711-1713)cGa>cAa	p.R571Q	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.R398Q|RASGRP1_uc010bbg.3_Missense_Mutation_p.R398Q|RASGRP1_uc001zkd.4_Missense_Mutation_p.R536Q	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	571					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ACCTTTACATCGATATCCTTG	0.423000														116			53		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419236	130419236	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:130419236C>T	uc004ewe.4	-	4	867	c.584G>A	c.(583-585)gGg>gAg	p.G195E	IGSF1_uc004ewd.3_Missense_Mutation_p.G195E|IGSF1_uc022cdv.1_Missense_Mutation_p.G186E|IGSF1_uc004ewf.2_Missense_Mutation_p.G175E|IGSF1_uc022cdw.1_Missense_Mutation_p.G195E|IGSF1_uc004ewg.3_Missense_Mutation_p.G195E	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	195	Ig-like C2-type 2.				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						GATGTAAACCCCTTCATCCTC	0.532000														41			46		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16942353	16942353	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrY:16942353C>T	uc011nas.1	+	5	1794	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F	NLGN4Y_uc004fte.2_Missense_Mutation_p.L351F|NLGN4Y_uc004ftg.2_Missense_Mutation_p.L519F|NLGN4Y_uc004ftf.2_Missense_Mutation_p.L212F|NLGN4Y_uc004fth.2_Missense_Mutation_p.L519F	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	519					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CGACGTCATGCTCAGTGCCGT	0.512000														34			40		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629025	19629025	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:19629025G>A	uc002ykv.3	+	1	670	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CHODL_uc002ykr.3_Silent_p.G52G|CHODL_uc002yks.3_Silent_p.G52G|CHODL_uc021whr.1_Silent_p.G52G|CHODL_uc002ykt.3_Silent_p.G52G|CHODL_uc002yku.3_Silent_p.G52G|CHODL_uc021whs.1_Silent_p.G74G	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	93	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)		CCGGGACAGGGATTTCTGATG	0.488000														102			43		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	192011397	192011397	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:192011397G>A	uc002usm.2	-	2	530	c.215C>T	c.(214-216)tCc>tTc	p.S72F	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.S72F|STAT4_uc002uso.2_Missense_Mutation_p.S72F|STAT4_uc002usp.4_Missense_Mutation_p.S72F|STAT4_uc010zgl.2_Missense_Mutation_p.S72F	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	72					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTTCTCTTTGGAAACACGACC	0.338000														30			14		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798406	99798406	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:99798406C>T	uc003utx.1	+	18	2030	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	STAG3_uc010lgs.1_Silent_p.F413F|STAG3_uc011kjk.1_Silent_p.F567F|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_5'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	625					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAGCTGTTCCTGCAGCAAC	0.567000														66			17		0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27946784	27946784	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:27946784C>T	uc002hel.2	-	1	208	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	CORO6_uc002hem.3_5'Flank|CORO6_uc002hen.3_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	69					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CTTATCCACTCGCCCTGTCTG	0.517000														65			37		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137288	121137288	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:121137288G>A	uc003eec.4	+	26	3543	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	STXBP5L_uc011bji.2_Missense_Mutation_p.E1111K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1135	v-SNARE coiled-coil homology.				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)		GGTGATGGGAGAGCTGACCCG	0.542000														50			12		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44118009	44118009	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:44118009C>T	uc003owr.3	+	16	1633	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMEM63B_uc003ows.3_Silent_p.I426I|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	523						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTTTCCTCATCTTCATGGTGC	0.602000														79			26		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692467	8692467	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8692467G>A	uc001quo.1	-	1	279	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	38						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATCTGGTGATGAAACAGGCAC	0.423000														269			95		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956811	42956811	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:42956811T>C	uc003cmk.2	+	3	1510	c.1324T>C	c.(1324-1326)Tat>Cat	p.Y442H	ZNF662_uc003cmi.2_Missense_Mutation_p.Y416H|ZNF662_uc003cmj.2_Missense_Mutation_p.Y308H	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGACAAACCCTATAACTGTCA	0.413000														43			24		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215376	8215376	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:8215376C>T	uc002glc.3	+	1	174	c.19C>T	c.(19-21)Cct>Tct	p.P7S	ARHGEF15_uc002glb.2_Missense_Mutation_p.P7S|ARHGEF15_uc002gld.3_Missense_Mutation_p.P7S|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P7S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	7	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCAGTCCCTTCCTGCAGCAAC	0.627000														46			23		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7546788	7546788	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:7546788G>A	uc003src.1	-	9	1049	c.932C>T	c.(931-933)tCc>tTc	p.S311F	COL28A1_uc011jxe.1_5'UTR|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	311	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G310E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGCCCTGGGGATCCCTGTGG	0.408000														63			49		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152268	43152268	+	Missense_Mutation	SNP	G	A	A	rs149552080		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:43152268G>A	uc003ouk.3	+	1	295	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CUL9_uc003ouj.1_Missense_Mutation_p.A74T|CUL9_uc003oul.3_Missense_Mutation_p.A74T|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	74					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						TGAGGTCTACGCCAACTGCCC	0.577000														142			4		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739304	26739304	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:26739304C>T	uc002rhk.3	-	4	618	c.491G>A	c.(490-492)gGa>gAa	p.G164E	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	164					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCTTCTCTCCTGGGGGCCG	0.637000														122			52		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86122	86122	+	RNA	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrGL000211.1:86122G>T	uc003bnz.1	+	5		c.870G>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GCTATGAAGAGTGCACACAGG	0.468000														6			4		0.000602214	0.000607065	1	1	0
GRIK1	2897	broad.mit.edu	37	21	30959841	30959841	+	Silent	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:30959841T>C	uc002yno.1	-	11	2102	c.1638A>G	c.(1636-1638)aaA>aaG	p.K546K	GRIK1_uc002ynn.3_Silent_p.K531K|GRIK1_uc011acs.2_Silent_p.K546K|GRIK1_uc011act.2_Silent_p.K407K|GRIK1_uc010glq.1_Silent_p.K389K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	546					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCATGAAGGGTTTGGAGAAGT	0.507000														47			12		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27329228	27329228	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:27329228G>A	uc003cdt.2	-	20	2024	c.1750C>T	c.(1750-1752)Cat>Tat	p.H584Y	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	584	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H584Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATGTTGGGATGATAAAGCTAT	0.269000														30			10		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157903587	157903587	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:157903587C>T	uc003wno.3	-	9	1698	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	PTPRN2_uc003wnp.3_Missense_Mutation_p.G509E|PTPRN2_uc003wnq.3_Intron|PTPRN2_uc003wnr.3_Missense_Mutation_p.G488E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G549E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	526						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)		CAGCCGCCTTCCTTCCTCGGG	0.662000														4			5		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														105			4		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833813	45833813	+	Missense_Mutation	SNP	C	T	T	rs143286660		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:45833813C>T	uc010gpt.1	+	19	3102	c.3002C>T	c.(3001-3003)aCc>aTc	p.T1001I	TRPM2_uc002zet.1_Missense_Mutation_p.T1001I|TRPM2_uc002zeu.1_Missense_Mutation_p.T1001I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T1001I|TRPM2_uc002zex.1_Missense_Mutation_p.T787I|TRPM2_uc002zey.1_Missense_Mutation_p.T514I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1001						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAATGGCACCGACCCCTAC	0.617000														297			110		0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14171043	14171043	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:14171043C>T	uc003byk.2	+	1	398	c.144C>T	c.(142-144)taC>taT	p.Y48Y	TMEM43_uc003byl.1_5'Flank	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	48						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TCTCCTTCTACCTAATTTTCA	0.542000														36			10		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57771051	57771051	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:57771051A>G	uc002yan.3	+	1	3866	c.3866A>G	c.(3865-3867)aAc>aGc	p.N1289S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1289						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)					CTGAAGATCAACCCTAAAAGG	0.488000														133			50		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814438	137814438	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:137814438G>A	uc002tva.1	+	1	495	c.495G>A	c.(493-495)ggG>ggA	p.G165G	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.G55G	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)		AGGGATGTGGGAAGAAATTGC	0.512000														196			78		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145772531	145772531	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:145772531G>A	uc003zds.1	-	5	2494	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S	ARHGAP39_uc011llk.1_Missense_Mutation_p.P647S|ARHGAP39_uc003zdt.1_Missense_Mutation_p.P647S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	647					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGTAGGGCTCTGGTGAG	0.662000														17			9		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433790	40433790	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:40433790G>A	uc002omp.4	-	1	487	c.479C>T	c.(478-480)gCc>gTc	p.A160V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	160	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)			GGCCACCACGGCAAACTCCTT	0.602000														103			32		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337056	22337056	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:22337056G>A	uc021rpg.1	+	0	77	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		ACATCCATTCGAGCTGTATTT	0.413000														28			14		0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367156	367156	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:367156C>T	uc003gaa.2	+	3	1107	c.930C>T	c.(928-930)ccC>ccT	p.P310P	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	310					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P310P(2)|p.P310S(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GAGAGAAACCCTACAAATGTG	0.388000														80			26		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640269	7640269	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:7640269C>T	uc001qsz.3	-	8	1864	c.1736_splice	c.e8-1	p.R579_splice	CD163_uc001qta.3_Splice_Site_p.R579_splice|CD163_uc009zfw.2_Missense_Mutation_p.G612E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	579					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						TTCTGTGTATCCTGGAAGGAG	0.488000														101			36		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38748870	38748870	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:38748870C>T	uc003ciq.3	-	24	4286	c.4286G>A	c.(4285-4287)gGg>gAg	p.G1429E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1429					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)	GTCCTGGCCCCCTAAGTGCAG	0.512000														62			25		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857020	9857020	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:9857020C>T	uc010uym.2	-	13	4691	c.4381G>A	c.(4381-4383)Gaa>Aaa	p.E1461K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1461K|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1461					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.E1461K(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)	ACATCAGATTCGATACTAGGC	0.368000														33			13		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1544456	1544456	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:1544456G>A	uc002qwr.3	+	15	2795	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G903G|TPO_uc002qwx.3_Silent_p.G846G|TPO_uc002qwu.3_Silent_p.G846G|TPO_uc010yio.2_Silent_p.G730G|TPO_uc010yip.2_Silent_p.G859G|TPO_uc002qwy.1_Silent_p.G199G|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	903					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.V902I(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)	AGGCCGTAGGGACCTCACCGC	0.637000														86			27		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311436	48311437	+	Missense_Mutation	DNP	CT	GA	GA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:48311436_48311437CT>GA	uc003toq.2	+	16	2197_2198	c.2173_2174CT>GA	c.(2173-2175)ctt>GAt	p.L725D	ABCA13_uc010kyr.2_Missense_Mutation_p.L228D|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	725					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTGCACACCCTTGAGGATGAA	0.287000														7			6		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73945388	73945388	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:73945388G>A	uc021rwe.1	-	17	3352	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	AK055876_uc001xoi.1_Non-coding_Transcript|HEATR4_uc021rwf.1_Silent_p.L955L	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AATTTACCCAGATAAAGAGCT	0.438000														76			33		0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130649036	130649036	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:130649036G>A	uc004bsp.1	-	6	959	c.840C>T	c.(838-840)acC>acT	p.T280T	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.H248Y|ST6GALNAC6_uc011man.1_Missense_Mutation_p.H82Y|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.H282Y|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.H248Y|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.H248Y|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	281					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCGTAGTAGTGGTAGGGCATG	0.632000														65			19		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873664	48873664	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:48873664C>T	uc002rwp.2	+	7	2687	c.2573C>T	c.(2572-2574)cCa>cTa	p.P858L	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P858L|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P811L|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.P154L|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.P120L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	811					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCAGCATCCAATTCAGCAA	0.378000														74			35		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145039	56145039	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:56145039C>T	uc002rzi.3	-	4	779	c.278G>A	c.(277-279)gGa>gAa	p.G93E	EFEMP1_uc002rzj.3_Missense_Mutation_p.G93E|EFEMP1_uc010ypc.2_Missense_Mutation_p.G35E	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	93					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCCTGAGGTTCCTTCTGCTGG	0.547000														110			43		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29462581	29462581	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:29462581G>A	uc002rmy.3	-	12	3272	c.2320C>T	c.(2320-2322)Ctg>Ttg	p.L774L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	774					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)	TGCCCAACCAGGATGTACAGC	0.617000			"""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					67			20		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222800959	222800959	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:222800959C>T	uc001hnl.3	+	3	406	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	MIA3_uc009xea.1_5'UTR	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	133					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGATGATTTTCATAATTATAA	0.348000														100			29		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103188701	103188701	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:103188701A>T	uc003hwb.1	-	6	1708	c.1179T>A	c.(1177-1179)aaT>aaA	p.N393K	SLC39A8_uc011ceo.1_Missense_Mutation_p.N393K|SLC39A8_uc003hwa.1_Missense_Mutation_p.N326K|SLC39A8_uc003hwc.2_Missense_Mutation_p.N393K	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	393						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CAAATATAATATTTGGAGCGA	0.373000														53			30		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270648	84270648	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:84270648G>A	uc010voc.2	-	1	565	c.444C>T	c.(442-444)gcC>gcT	p.A148A	KCNG4_uc002fhu.1_Silent_p.A148A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	148						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGCCCCAGTAGGCCAGCTCCT	0.672000														57			23		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134969	128134969	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:128134969G>A	uc011ebt.2	-	3	966	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	THEMIS_uc010kfa.3_Missense_Mutation_p.L176F|THEMIS_uc021zfa.1_Missense_Mutation_p.L273F|THEMIS_uc010kfb.3_Missense_Mutation_p.L238F	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	273	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.D272Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATTTCAAAAAGATCTTCTGTT	0.423000														111			32		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584627	30584627	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:30584627C>T	uc002wxe.3	+	2	1281	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	369						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCTACATCTTCTGCTGGT	0.592000														38			14		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348195	7348195	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:7348195G>A	uc003bqm.2	+	3	1163	c.889G>A	c.(889-891)Gca>Aca	p.A297T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.A297T|GRM7_uc003bql.2_Missense_Mutation_p.A297T|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	297					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.A297G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAGATCCTTGCAGCAGCCAA	0.438000														96			4		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116406747	116406747	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:116406747G>A	uc001tvw.3	-	27	6278	c.6223C>T	c.(6223-6225)Cgg>Tgg	p.R2075W		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	2075					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCCTTACCCGACTATGCTGG	0.473000														52			26		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				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.Q111E(12)		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)		CTTCACTAACCAGATCCAGGC	0.567000														36			4		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459352	186459352	+	Silent	SNP	A	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:186459352A>G	uc011bsa.2	+	9	1401	c.1167A>G	c.(1165-1167)cgA>cgG	p.R389R	KNG1_uc003fqr.3_Silent_p.R389R|KNG1_uc021xil.1_Silent_p.R353R	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	389		Cleavage; by kallikrein.			blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CACCTTTCCGATCATCACGAA	0.393000														68			30		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852052	38852052	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:38852052C>T	uc001zke.4	-	1	368	c.190G>A	c.(190-192)Gat>Aat	p.D64N	RASGRP1_uc001zkd.4_Missense_Mutation_p.D64N	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	64	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCAATGAGATCGTCCAGGCTG	0.483000														37			16		0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57931750	57931751	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:57931750_57931751CC>TT	uc002qop.1	+	3	1162_1163	c.896_897CC>TT	c.(895-897)acc>aTT	p.T299I	ZNF17_uc021vck.1_Missense_Mutation_p.T290I|ZNF17_uc002qoo.1_Missense_Mutation_p.T297I	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGGATTCACACCAGGCCAAGGC	0.470000														93			62		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159488	39159488	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:39159488G>A	uc003oon.3	-	4	1042	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	226					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGAGCTCCACGAAGTAGCGGT	0.572000														155			64		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9987392	9987392	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:9987392C>T	uc003gmc.3	-	3	497	c.436G>A	c.(436-438)Ggg>Agg	p.G146R	SLC2A9_uc003gmd.3_Missense_Mutation_p.G117R	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	146					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATTGCAAACCCATTATTGGCC	0.498000														73			18		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753301	45753301	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:45753301G>A	uc003tne.4	+	19	3085	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1023					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)	GGTGACTGAGGAAGTCCACCG	0.522000														57			25		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233511	43233511	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:43233511C>T	uc002oue.3	-	4	1139	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.R336K	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	336	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGGGTAAATTCTGGGGAGGTC	0.478000														211			142		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831965	58831965	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:58831965T>C	uc001xdp.3	+	19	3412	c.3158T>C	c.(3157-3159)gTt>gCt	p.V1053A	ARID4A_uc001xdo.3_Missense_Mutation_p.V1053A|ARID4A_uc001xdq.3_Missense_Mutation_p.V1053A|ARID4A_uc010apg.1_Missense_Mutation_p.V731A	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1053					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAACTAATGTTGCCTCTGGT	0.373000														62			25		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19513075	19513075	+	Missense_Mutation	SNP	T	C	C	rs140628130		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:19513075T>C	uc001bbi.3	-	13	1713	c.1709A>G	c.(1708-1710)tAt>tGt	p.Y570C		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	570					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCGTCCTCATAGTAAGTATT	0.522000														52			12		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76388601	76388601	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:76388601C>T	uc002jvm.3	+	1	200	c.188C>T	c.(187-189)cCc>cTc	p.P63L	PGS1_uc010wtt.2_Non-coding_Transcript	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	63					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCAGCTGTTCCCCAGGTCACC	0.522000														37			63		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848500	73848500	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:73848500C>T	uc003xzb.3	+	2	1498	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	304					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAGATCTTCCGAATCATGCG	0.527000														65			23		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117570	11117570	+	Missense_Mutation	SNP	C	T	T	rs141186137		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:11117570C>T	uc003jfa.1	-	12	2414	c.2269G>A	c.(2269-2271)Gat>Aat	p.D757N	CTNND2_uc010itt.2_Missense_Mutation_p.D666N|CTNND2_uc011cmy.1_Missense_Mutation_p.D420N|CTNND2_uc011cmz.1_Missense_Mutation_p.D324N|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.D324N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	757					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I756I(4)|p.D757H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCTTGCTATCGATCTCACTG	0.522000														111			35		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925764	70925764	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:70925764G>A	uc021rvq.1	+	0	1548	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ADAM21_uc001xmd.3_Silent_p.E516E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	516	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTGCAGGGAGATTTTTGGTA	0.418000														89			32		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618794	141618794	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:141618794G>A	uc003vwu.1	+	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATTAATGGGAAACACAGTC	0.443000														161			85		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501855	28501855	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:28501855A>G	uc003nll.2	+	4	579	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	193					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GCCTGATGGAATCCCTGTCAT	0.498000														94			41		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25019811	25019811	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:25019811C>T	uc003aan.1	+	10	1435	c.948C>T	c.(946-948)atC>atT	p.I316I	GGT1_uc003aas.1_Silent_p.I316I|GGT1_uc003aat.1_Silent_p.I316I|GGT1_uc003aau.2_Silent_p.I316I|GGT1_uc003aav.2_Silent_p.I316I|GGT1_uc003aaw.2_Silent_p.I316I|GGT1_uc003aax.2_Silent_p.I316I	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	316					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCACCGCATCGTAGAGGCTT	0.617000														32			17		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157556172	157556172	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:157556172G>A	uc001fqw.3	-	5	1057	c.921C>T	c.(919-921)gtC>gtT	p.V307V	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	307	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.L306Q(2)		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)				AGCAGACAAGGACCAGCATCT	0.597000														95			23		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125609479	125609479	+	Silent	SNP	G	A	A	rs147156760		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:125609479G>A	uc001uhc.3	+	11	1424	c.1218G>A	c.(1216-1218)acG>acA	p.T406T	AACS_uc001uhd.3_Silent_p.T406T|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Silent_p.T4T	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	406					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTCCACACGATCCTGTCCA	0.542000														60			30		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657241	34657241	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:34657241C>T	uc001zig.3	-	2	540	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	LPCAT4_uc010bav.1_Missense_Mutation_p.R149Q	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	149					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	p.R149R(1)		NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTTCTCAGCTCGGGACACAAC	0.547000														66			38		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011345	34011345	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:34011345G>A	uc002yqh.2	-	30	3905	c.3905C>T	c.(3904-3906)cCt>cTt	p.P1302L	SYNJ1_uc011ads.1_Missense_Mutation_p.P1216L|SYNJ1_uc002yqf.2_Missense_Mutation_p.P1247L|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1216L|SYNJ1_uc002yqi.2_Missense_Mutation_p.P1302L|SYNJ1_uc002yqe.4_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1263	Pro-rich.						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						AGGGACAAGAGGCTCTTGCAA	0.547000														171			76		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50966613	50966613	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:50966613G>A	uc009xog.3	-	0	141	c.107C>T	c.(106-108)tCc>tTc	p.S36F	OGDHL_uc001jie.3_Missense_Mutation_p.S9F|OGDHL_uc010qgt.2_Missense_Mutation_p.S9F|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_Intron	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	9					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						CCCAAGACGGGACGGCAGCAG	0.622000														28			13		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614484	135614484	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:135614484G>A	uc003yup.3	-	5	1664	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	ZFAT_uc003yun.3_Missense_Mutation_p.S481F|ZFAT_uc003yuo.3_Missense_Mutation_p.S481F|ZFAT_uc010meh.3_Missense_Mutation_p.S481F|ZFAT_uc010mej.3_Missense_Mutation_p.S431F|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.S481F|ZFAT_uc003yur.3_Missense_Mutation_p.S481F	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	493					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)			CTGGTTGATGGAACTGGTGAA	0.602000														36			16		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53453786	53453786	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:53453786G>A	uc001cur.2	+	10	1227	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	SCP2_uc010ono.2_Silent_p.K272K|SCP2_uc010onp.2_Silent_p.K329K|SCP2_uc009vzi.2_Silent_p.K309K|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Silent_p.K309K	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	353					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TGATTTCAAAGGGACACCCAC	0.368000														58			37		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097501	75097501	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:75097501G>A	uc001dgg.3	-	6	934	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	C1orf173_uc001dgi.4_Missense_Mutation_p.P33S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	239										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						CCAGTTGGGGGAAGTGGAGGA	0.408000														57			28		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130002784	130002784	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:130002784C>T	uc010lmd.1	+	9	1316	c.696C>T	c.(694-696)atC>atT	p.I232I	CPA5_uc003vps.2_Silent_p.I232I|CPA5_uc003vpt.2_Silent_p.I232I|CPA5_uc010lme.1_Silent_p.I232I|CPA5_uc003vpu.1_Silent_p.I232I	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	232					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCATGGACATCTTCATAGAGC	0.522000														42			9		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981585	40981585	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:40981585G>A	uc003jmh.3	+	17	2556	c.2442G>A	c.(2440-2442)acG>acA	p.T814T		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	814	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGAGCAGACGATGTCTGAGT	0.557000														22			11		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493804	128493804	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:128493804C>T	uc003vnz.4	+	38	6606	c.6397C>T	c.(6397-6399)Cgc>Tgc	p.R2133C	FLNC_uc003voa.4_Missense_Mutation_p.R2100C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2133					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						CGGCGAGGGCCGCATGAAGGA	0.622000														69			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062082	9062082	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9062082G>A	uc002mkp.3	-	2	25568	c.25364C>T	c.(25363-25365)tCc>tTc	p.S8455F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8457	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						TCCCCTAGAGGATATCACTTC	0.517000														81			71		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121032932	121032932	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:121032932G>A	uc010rzo.2	+	14	5125	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1709					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGGCTTCTCGATCCCCTCCC	0.597000														70			35		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803263	144803263	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:144803263C>T	uc003yzj.3	+	9	1052	c.1011C>T	c.(1009-1011)agC>agT	p.S337S		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	337					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTACCGCAGCCGCGTCTATC	0.657000														30			14		0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93299188	93299188	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:93299188C>T	uc001doz.3	+	2	238	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.R4C|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	54					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GATGATAGTTCGTGTGACAAA	0.358000														54			11		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53038684	53038684	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:53038684G>A	uc003xqz.2	-	17	2839	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	ST18_uc011ldq.1_Missense_Mutation_p.L542F|ST18_uc011ldr.1_Missense_Mutation_p.L860F|ST18_uc011lds.1_Missense_Mutation_p.L800F|ST18_uc003xra.2_Missense_Mutation_p.L895F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	895						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGCATTGAGAGGACATCCA	0.363000														75			30		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955918	156955918	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:156955918G>A	uc001fqo.3	-	1	1120	c.80C>T	c.(79-81)tCc>tTc	p.S27F	ARHGEF11_uc001fqn.3_Missense_Mutation_p.S27F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	27					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGGAAGGGGACTTGCGCTC	0.542000														78			22		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332031	70332031	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:70332031G>A	uc001oqc.3	-	20	4281	c.4169C>T	c.(4168-4170)cCa>cTa	p.P1390L	SHANK2_uc010rqn.2_Missense_Mutation_p.P866L|SHANK2_uc001opz.3_Missense_Mutation_p.P861L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1077					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGAGTTGGTTGGTTGGCTGGA	0.567000														87			37		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065735	32065735	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:32065735G>A	uc003nzl.2	-	1	443	c.241C>T	c.(241-243)Cct>Tct	p.P81S	TNXB_uc010jts.1_Missense_Mutation_p.P80S|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	81					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						CCAGTGGAAGGGGGCAGGTTA	0.612000														34			9		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341067	121341067	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:121341067C>T	uc003eeg.2	+	2	1001	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	264					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGGGCGCTCCCAAAAAGAAA	0.483000														43			12		0	0	1	0	0
BCL2L14	79370	broad.mit.edu	37	12	12247633	12247633	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:12247633G>A	uc001rac.3	+	4	915	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Silent_p.Q238Q|BCL2L14_uc001rae.3_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	238					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCCACTTCCAGGATGGGCTGT	0.493000														95			38		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608561	177608561	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:177608561C>T	uc003ius.1	-	5	1355	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	309	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.E309*(2)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGTCTAGTTCTTTGTGGGGT	0.507000														114			51		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062890	170062890	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:170062890G>A	uc002ues.3	-	38	7553	c.7340C>T	c.(7339-7341)tCc>tTc	p.S2447F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2447					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)	GGTGGCATAGGAAATCTGTCC	0.443000														46			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600263	92600263	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:92600263C>T	uc001pdj.4	+	20	12032	c.12015C>T	c.(12013-12015)ttC>ttT	p.F4005F	FAT3_uc001pdi.4_Silent_p.F445F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4005	Laminin G-like.				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)				GCAGCAGCTTCGCGGAGGTGG	0.662000										TCGA Ovarian(4;0.039)				13			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948347	89948347	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:89948347G>A	uc003kju.3	+	18	3697	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1201	Calx-beta 9.				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)		TGAATTCAATGAATTTTATTT	0.294000														8			14		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:248737528C>T	uc001iep.1	-	0	531	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			TCAGGATTTTCCTAGACTGGC	0.527000														128			23		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694582	49694582	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:49694582C>T	uc003cxe.4	+	4	7707	c.7593C>T	c.(7591-7593)ctC>ctT	p.L2531L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2531					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)		ACCGGGGTCTCCCCAGCTCTG	0.627000														52			18		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384743	108384743	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:108384743C>T	uc001pkk.3	-	5	1602	c.1491G>A	c.(1489-1491)agG>agA	p.R497R	EXPH5_uc010rvz.2_Silent_p.R341R|EXPH5_uc010rvy.2_Silent_p.R309R	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	497					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGAATGATTTCCTGCTTCGAT	0.428000														48			26		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401160	50401160	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:50401160C>T	uc002xwh.4	-	3	2907	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	SALL4_uc010gii.3_Missense_Mutation_p.E499K|SALL4_uc002xwi.4_Missense_Mutation_p.E159K	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	936					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGGTGTTCTCGATGGCCAAC	0.493000														70			35		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23392093	23392093	+	Missense_Mutation	SNP	G	A	A	rs140609339		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:23392093G>A	uc002dln.3	+	12	2070	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	632			E -> G.		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)	GGACGTCATCGAGTCTGACAG	0.657000														139			40		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424126	14424126	+	RNA	SNP	C	G	G	rs143763279	by1000genomes	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:14424126C>G	uc002yiy.3	+	4		c.2941C>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GAAGGAACATCTGAAGGAACA	0.453000														47			3		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045529	142045529	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:142045529G>A	uc003vxp.4	+	1	166	c.57G>A	c.(55-57)atG>atA	p.M19I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGTCCCCATGGAAACGGGAG	0.473000														241			60		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32937423	32937423	+	Missense_Mutation	SNP	C	T	T	rs80359048		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:32937423C>T	uc001uub.1	+	17	8311	c.8084C>T	c.(8083-8085)tCa>tTa	p.S2695L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2695					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.S2695*(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACATAATTTCATTGAGCGCA	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				74			32		0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279341	2279341	+	Splice_Site	SNP	A	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:2279341A>G	uc003slm.3	-	2	38	c.9_splice	c.e2-1	p.G3_splice	FTSJ2_uc003sln.3_Splice_Site|FTSJ2_uc003slo.3_Intron|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	3					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		AGCTTCAAGTACCTGGTGGGA	0.562000														107			83		0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84386806	84386806	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:84386806C>T	uc001djc.3	-	11	1724	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	443					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGTTCTTCTCGTGAGATCTG	0.323000														52			9		0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172325474	172325474	+	Silent	SNP	C	T	T	rs146745875		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:172325474C>T	uc002ugx.3	+	8	1242	c.915C>T	c.(913-915)atC>atT	p.I305I	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Silent_p.I305I|DCAF17_uc010fqg.3_Silent_p.I25I	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	305						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGCACTACATCGTCACACCTA	0.413000														70			25		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112776	168112776	+	Silent	SNP	G	A	A	rs142117627		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:168112776G>A	uc010jjg.3	-	30	3912	c.3492C>T	c.(3490-3492)ctC>ctT	p.L1164L	SLIT3_uc003mab.3_Silent_p.L1157L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1157	Laminin G-like.				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)			TGACAGTGATGAGCTTCTCGC	0.652000														34			20		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97112277	97112277	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:97112277G>A	uc021rcc.1	+	15	2134	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	686										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						ACTTAAAGATGAGATCACTCT	0.338000														52			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268307	1268307	+	Silent	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:1268307C>A	uc001lta.3	+	30	10256	c.10197C>A	c.(10195-10197)gcC>gcA	p.A3399A		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3399	17 X approximate tandem repeats, Ser/Thr- rich.|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)		cgatcacagccaccggctcca	0.622000														16			5		0.014758	0.0148257	1	1	0
FAM190B	54462	broad.mit.edu	37	10	86185512	86185512	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:86185512T>G	uc010qmd.1	+	4	1925	c.1731T>G	c.(1729-1731)ttT>ttG	p.F577L	FAM190B_uc001kdh.1_Missense_Mutation_p.F577L|FAM190B_uc001kdi.1_5'UTR|FAM190B_uc010qme.1_Missense_Mutation_p.F4L			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	577										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						TGAACCGCTTTGACCGACCAG	0.448000														24			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38994419	38994419	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:38994419G>A	uc021yzh.1	+	91	13921	c.13812G>A	c.(13810-13812)aaG>aaA	p.K4604K	DNAH8_uc003ooe.2_Silent_p.K4387K	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						GACAGACCAAGGAGGAGATCA	0.532000														76			36		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28723727	28723727	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:28723727C>T	uc002kwn.3	-	7	1229	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	DSC1_uc002kwm.3_Missense_Mutation_p.E323K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	323	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)			TCTCGCACTTCCATTATTAAC	0.338000														29			16		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185234931	185234931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:185234931C>T	uc003fpm.3	-	6	1016	c.906G>A	c.(904-906)tgG>tgA	p.W302*	LIPH_uc010hyh.3_Nonsense_Mutation_p.W268*	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	302					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GATGGTCTTTCCAATTATCAG	0.383000														102			37		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929721	121929721	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:121929721G>A	uc004bkc.2	-	7	2383	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	643					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						CTCTTGGAGGGATCCGACAGG	0.562000														152			69		0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22057192	22057192	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:22057192C>T	uc002kvi.3	+	2	939	c.839C>T	c.(838-840)tCc>tTc	p.S280F	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.S192F	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	280						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	GGTTCCTTCTCCCAATCAGAT	0.428000														136			54		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204622	9204622	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9204622G>A	uc010xkj.2	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233D(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAGGCGGCAGGAAGAAAGCCT	0.582000														83			58		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35433142	35433142	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:35433142G>A	uc021wcx.1	-	9	3423	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	SOGA1_uc002xgd.1_Missense_Mutation_p.S790F	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	790										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCTCACCTGGGAGGTATGGCC	0.592000														58			25		0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	Splice_Site	SNP	G	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:197348739G>C	uc011bug.2	-	4		c.352_splice	c.e4-1		LOC220729_uc003fxy.3_Splice_Site|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		TAATTTTCTAGCTGTGAAAGA	0.398000														139			4		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757435	8757435	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8757435G>A	uc001qur.2	-	3	590	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	AICDA_uc001qup.1_Missense_Mutation_p.R156C|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	171					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTGGAGAGACGAACTGAATTT	0.368000														126			56		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132195960	132195960	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:132195960C>T	uc001uja.1	+	0	326	c.186C>T	c.(184-186)ccC>ccT	p.P62P	SFSWAP_uc010tbn.1_Silent_p.P62P|SFSWAP_uc001ujb.1_5'UTR|SFSWAP_uc001uiz.1_5'UTR	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	62					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						ACCTCATCCCCTGGATGGGGG	0.617000														67			28		0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12790694	12790694	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:12790694G>A	uc002muh.2	-	2	536	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	DHPS_uc002mug.2_Missense_Mutation_p.L97F|DHPS_uc002mui.2_Missense_Mutation_p.L139F|DHPS_uc002muk.2_Non-coding_Transcript|DHPS_uc010xmn.2_Non-coding_Transcript	NM_001930	NP_001921	P49366	DHYS_HUMAN	Homo sapiens deoxyhypusine synthase (DHPS), transcript variant 1, mRNA.	139					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CACTTGATGAGGTCTTCCTCC	0.587000														39			25		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203219	41203219	+	Silent	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:41203219A>C	uc003jmk.2	-	1	324	c.114T>G	c.(112-114)acT>acG	p.T38T	C6_uc003jml.1_Silent_p.T38T	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	38	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGAATTGCAAGTTTTTGAGC	0.493000														267			9		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44905706	44905706	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:44905706C>T	uc001ztx.3	-	16	3098	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	SPG11_uc010ueh.2_Missense_Mutation_p.E1023K|SPG11_uc010uei.2_Missense_Mutation_p.E1023K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1023					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTTTTTTTCCAAAAAGGGA	0.333000														37			11		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44006380	44006380	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:44006380G>A	uc002own.4	-	2	528	c.269C>T	c.(268-270)tCg>tTg	p.S90L	PHLDB3_uc002owo.3_Missense_Mutation_p.S90L	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	90										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCCTTCCCGCGAAGAGGTGGA	0.662000														10			3		0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262799	144262799	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:144262799C>T	uc003qjv.3	-	2	2420	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D	PLAGL1_uc003qjx.3_Missense_Mutation_p.G385D|PLAGL1_uc003qjy.3_Missense_Mutation_p.G385D|PLAGL1_uc010khl.3_Missense_Mutation_p.G385D|PLAGL1_uc010khm.3_Missense_Mutation_p.G385D|PLAGL1_uc003qjz.3_Missense_Mutation_p.G385D|PLAGL1_uc003qka.3_Missense_Mutation_p.G385D|PLAGL1_uc003qkb.3_Missense_Mutation_p.G333D|PLAGL1_uc003qkc.3_Missense_Mutation_p.G385D|PLAGL1_uc003qkd.3_Missense_Mutation_p.G333D|PLAGL1_uc003qke.3_Missense_Mutation_p.G385D|PLAGL1_uc003qkf.3_Missense_Mutation_p.G385D|PLAGL1_uc003qkg.3_Missense_Mutation_p.G333D|PLAGL1_uc003qkh.3_Missense_Mutation_p.G385D|PLAGL1_uc003qki.3_Missense_Mutation_p.G333D|PLAGL1_uc003qkj.3_Missense_Mutation_p.G385D|PLAGL1_uc003qkk.3_Missense_Mutation_p.G333D|PLAGL1_uc003qkl.3_Missense_Mutation_p.G333D|PLAGL1_uc003qkm.3_Missense_Mutation_p.G385D|PLAGL1_uc010khn.3_Missense_Mutation_p.G385D|PLAGL1_uc003qkn.3_Missense_Mutation_p.G333D|PLAGL1_uc003qko.3_Missense_Mutation_p.G385D|PLAGL1_uc003qkp.3_Missense_Mutation_p.G333D|PLAGL1_uc003qjw.3_Missense_Mutation_p.G333D|PLAGL1_uc021zgj.1_Missense_Mutation_p.G333D	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	385					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CTGCCAGAAGCCCAACAGGGG	0.557000														54			18		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818462	214818462	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:214818462C>T	uc001hkm.3	+	12	5723	c.5549C>T	c.(5548-5550)tCt>tTt	p.S1850F		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1946					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAATATTTTTCTTGTGATCAC	0.338000														36			11		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918745	17918745	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:17918745C>T	uc002nhl.1	+	1	276	c.129C>T	c.(127-129)atC>atT	p.I43I	B3GNT3_uc010ebd.1_Silent_p.I43I|B3GNT3_uc010ebe.1_Silent_p.I43I	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	43					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CACCGGCGATCCCCGAGGCCC	0.677000														12			19		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132174099	132174099	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:132174099C>T	uc003vra.4	-	2	1552	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	PLXNA4_uc003vrc.2_Silent_p.K441K|PLXNA4_uc003vrb.3_Silent_p.K441K	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	441	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGAGTGGTTCTTGTAGACAT	0.527000														70			20		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748675	151748675	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151748675G>A	uc009wnb.1	-	7	1296	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	TDRKH_uc001eyy.2_Nonsense_Mutation_p.R148*|TDRKH_uc001ezb.4_Nonsense_Mutation_p.R368*|TDRKH_uc001ezc.4_Nonsense_Mutation_p.R327*|TDRKH_uc001eza.4_Nonsense_Mutation_p.R372*|TDRKH_uc001ezd.4_Nonsense_Mutation_p.R372*|TDRKH_uc010pdn.1_Nonsense_Mutation_p.R148*	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	372	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGGGCTCGATACCAGGAA	0.507000														87			37		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3990599	3990599	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:3990599C>T	uc003smx.3	+	5	1031	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	298	Ig-like C2-type 3.				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)		CATTGTGGTTCCCCCGGGCAA	0.547000														64			40		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366061	64366061	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:64366061G>A	uc001oam.1	+	4	1651	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	SLC22A12_uc009ypr.1_Missense_Mutation_p.V327M|SLC22A12_uc001oal.1_Missense_Mutation_p.V81M|SLC22A12_uc009yps.1_Missense_Mutation_p.V268M|SLC22A12_uc001oan.1_Missense_Mutation_p.V194M|SLC22A12_uc009ypt.3_Missense_Mutation_p.V120M	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	302					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCTGTGGAGGGTGGCTGCCAT	0.662000														20			6		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39950280	39950280	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:39950280C>T	uc021olw.1	+	62	17438	c.17438C>T	c.(17437-17439)cCa>cTa	p.P5813L	MACF1_uc021ols.1_Missense_Mutation_p.P5302L|MACF1_uc021olt.1_Missense_Mutation_p.P5305L|MACF1_uc001cde.2_Missense_Mutation_p.P219L|MACF1_uc001cdg.3_Missense_Mutation_p.P133L|MACF1_uc001cdh.3_Missense_Mutation_p.P96L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7263					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)			AAGGTTATCCCATCATCAGGT	0.383000														127			93		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469606	98469606	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:98469606C>T	uc001kmq.3	-	1	276	c.148G>A	c.(148-150)Gag>Aag	p.E50K		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	50						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)		AAGGAGGCCTCGGGGCCCAGC	0.642000														55			29		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174231943	174231943	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:174231943G>A	uc002uic.1	+	8	1382	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	CDCA7_uc002uid.1_Silent_p.R338R|CDCA7_uc010zej.1_Silent_p.R373R|CDCA7_uc010zek.1_Silent_p.R296R	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	338					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GAGATGGACGGTGTGCGACTG	0.483000														66			25		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333069	70333069	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:70333069C>T	uc001jok.4	+	1	1479	c.974C>T	c.(973-975)tCt>tTt	p.S325F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	325					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCTCCTACCTCTGTAATAAAA	0.453000														73			53		0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267424	1267424	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:1267424G>A	uc010nyk.2	+	2	513	c.513G>A	c.(511-513)atG>atA	p.M171I		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	171					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GTGCTAGCATGGAGCTGCTGA	0.697000														74			48		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117576512	117576512	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:117576512C>T	uc010oxb.1	+	8	2913	c.2855C>T	c.(2854-2856)tCg>tTg	p.S952L	CD101_uc009whd.3_Missense_Mutation_p.S952L|CD101_uc010oxc.1_Missense_Mutation_p.S952L|CD101_uc010oxd.1_Missense_Mutation_p.S890L	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	952					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.S952S(1)		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						ATCTGCTCCTCGGCCCCTTTA	0.483000														108			41		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555032	44555032	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:44555032C>T	uc010xdb.2	-	0	1418	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	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.	394	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCAATGAATCCTCCATAATT	0.582000														526			14		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109046840	109046840	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:109046840C>T	uc003dxq.4	-	6	965	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	304						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ATATTCTATTCCCATTGGAGG	0.373000														218			70		0	0	1	0	0
FAM131C	348487	broad.mit.edu	37	1	16386095	16386095	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:16386095G>A	uc001axz.4	-	5	646	c.456C>T	c.(454-456)gtC>gtT	p.V152V		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	152										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTCGGCGACCCCTGGGG	0.672000														33			36		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387810	46387810	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:46387810G>A	uc002pds.1	-	0	1567	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGGCCGCCGGGTGCCACCCA	0.721000														40			39		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116414955	116414955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:116414955C>T	uc003vij.3	+	14	3236	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*	MET_uc010lkh.3_Nonsense_Mutation_p.Q1035*|MET_uc011knj.2_Nonsense_Mutation_p.Q587*	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1017					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(8)|p.L982_D1028del(3)|p.D981_D1028del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAATTCATCTCAGAACGGTTC	0.393000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					42			21		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66878017	66878017	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:66878017G>A	uc002jhq.3	-	30	4273	c.3933C>T	c.(3931-3933)ttC>ttT	p.F1311F	ABCA8_uc002jhp.3_Silent_p.F1271F|ABCA8_uc010wqq.2_Silent_p.F1306F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1271	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)					TTCTAACACAGAAGGAGACAT	0.478000														41			58		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107318	13107318	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:13107318C>T	uc002wod.1	+	8	1522	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	411					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CAGAGCAAATCATCAGATCAC	0.483000														127			59		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662686	49662686	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:49662686C>T	uc003cxe.4	+	1	617	c.503C>T	c.(502-504)aCg>aTg	p.T168M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	168					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)		CCCAGCAGCACGCTGTGTCCC	0.607000														81			28		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910858	59910858	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:59910858G>A	uc002age.3	+	2	870	c.421G>A	c.(421-423)Gag>Aag	p.E141K	GCNT3_uc002agd.3_Missense_Mutation_p.E141K|GCNT3_uc021smz.1_Missense_Mutation_p.E141K	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	141					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			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGATTCATGAGAAGATTGA	0.443000														91			25		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57918206	57918206	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:57918206C>T	uc002emt.2	-	32	3683	c.3618G>A	c.(3616-3618)ggG>ggA	p.G1206G	CNGB1_uc010cdh.2_Silent_p.G1200G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1206					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTCCGGCCTCCCAAGGGAGG	0.746000														38			19		0	0	1	0	0
SUMO1	7341	broad.mit.edu	37	2	203071997	203071997	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:203071997C>T	uc002uyz.1	-	4	433	c.285G>A	c.(283-285)acG>acA	p.T95T	SUMO1_uc002uza.1_Silent_p.T70T	NM_001005781	NP_003343	P63165	SUMO1_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) (SUMO1), transcript variant 2, mRNA.	95	Ubiquitin-like.				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										AATGACCCCCCGTTTGTTCCT	0.299000														261			90		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970886	151970886	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:151970886A>C	uc003wla.3	-	6	1135	c.916T>G	c.(916-918)Tat>Gat	p.Y306D		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	306					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M305I(2)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGATAATGATACATCTGGGTA	0.433000			N		medulloblastoma									185			18		0	0	1	0	0
IL24	11009	broad.mit.edu	37	1	207072772	207072772	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:207072772G>A	uc001heu.2	+	2	430	c.155G>A	c.(154-156)gGc>gAc	p.G52D	IL24_uc001hes.2_Missense_Mutation_p.G51D|IL24_uc001hew.2_Missense_Mutation_p.G52D|IL24_uc001hex.2_Intron|IL24_uc001hev.2_Intron	NM_001185156	NP_001172085	Q13007	IL24_HUMAN	Homo sapiens interleukin 24 (IL24), transcript variant 3, mRNA.	51					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGGGCCCAGGGCCAAGAATTC	0.557000														89			34		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48139061	48139061	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:48139061C>T	uc002efc.1	-	18	3008	c.2662G>A	c.(2662-2664)Gtg>Atg	p.V888M	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	888	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTATCAAACACCGTGTCATGC	0.527000														89			29		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39585611	39585611	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:39585611G>A	uc001uwy.3	-	12	3599	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L	PROSER1_uc001uwz.3_Missense_Mutation_p.S887L	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	909																	TTCCAGAGCCGAAGCTGAATG	0.507000														50			21		0	0	1	0	0
PRDM12	59335	broad.mit.edu	37	9	133543638	133543638	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:133543638G>A	uc004bzt.1	+	2	568	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	170	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E170K(2)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGCACGTAACGAACAGGAGCA	0.562000														76			29		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415786	105415786	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:105415786G>A	uc010axc.1	-	6	6122	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S1901L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2001						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)			CCCTGGGGCCGATACCCCGAA	0.617000														80			132		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63976020	63976020	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:63976020T>G	uc003dlv.3	+	9	2083	c.1530T>G	c.(1528-1530)caT>caG	p.H510Q	ATXN7_uc003dlw.4_Missense_Mutation_p.H510Q|ATXN7_uc021wzy.1_Missense_Mutation_p.H510Q|ATXN7_uc011bfn.2_Missense_Mutation_p.H365Q	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	510					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGGACTGTCATTATTCAGGTC	0.582000														54			28		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169521893	169521893	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:169521893C>T	uc001ggg.1	-	7	1343	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	400	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Y399Y(1)		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)	GACTCATCTTCGTACTGTGTG	0.353000														81			24		0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211654464	211654464	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:211654464G>A	uc001him.2	-	1	1458	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RD3_uc001hin.2_Silent_p.L98L|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	98					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GTGCTCACCTGAGGATAGCAG	0.617000														40			15		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133802688	133802688	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:133802688G>A	uc011ecs.2	+	11	1392	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	EYA4_uc011ecq.2_Missense_Mutation_p.G299E|EYA4_uc011ecr.2_Missense_Mutation_p.G305E|EYA4_uc003qec.4_Missense_Mutation_p.G353E|EYA4_uc003qed.4_Missense_Mutation_p.G353E|EYA4_uc003qee.4_Missense_Mutation_p.G330E|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	353					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAGTCCAGAGGAAGAGGCCGG	0.453000														118			31		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43496154	43496154	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:43496154C>T	uc002zag.1	+	1	117	c.117C>T	c.(115-117)caC>caT	p.H39H	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Silent_p.H39H|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	39	EMI.					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						TATGCAGCCACCGTGTGACCC	0.597000														157			61		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50341362	50341362	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:50341362C>T	uc004dpe.2	-	7	4142	c.4116G>A	c.(4114-4116)ctG>ctA	p.L1372L	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1372	ASD2.				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)					CCACTTTGTCCAGGTCCCCAA	0.512000														18			14		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48595053	48595053	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:48595053G>A	uc002efp.3	-	1	1738	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	501					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ACTTCTTTGGGACTTGGAGAG	0.448000														120			40		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33132085	33132086	+	Nonsense_Mutation	DNP	CC	AT	AT	rs144290562		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:33132085_33132086CC>AT	uc003ocx.1	-	64	5256_5257	c.5028_5029GG>AT	c.(5026-5031)ccggag>ccATag	p.E1677*	COL11A2_uc010jul.1_Nonsense_Mutation_p.E247*|COL11A2_uc003ocy.1_Nonsense_Mutation_p.E1591*|COL11A2_uc003ocz.1_Nonsense_Mutation_p.E1570*	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1677	Fibrillar collagen NC1.				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						GGGCTAGTCTCCGGGCTCAGCT	0.614000														37			10		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170117	57170117	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:57170117G>A	uc001cyk.4	+	6	1333	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	421					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R421L(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGTTTACCGAGCTATGAAG	0.378000														89			85		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744436	76744436	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:76744436G>A	uc003pik.1	-	2	500	c.370C>T	c.(370-372)Cag>Tag	p.Q124*		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	124					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)				ACCCAGTCCTGATATTCCCCT	0.498000														66			22		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378023	19378023	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:19378023C>T	uc010tkp.2	+	0	430	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P144P(1)		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)		TATCTGCCGTCCCTTGCTCTA	0.443000														162			46		0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	210035	210035	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:210035G>A	uc002wda.3	+	1	206	c.175G>A	c.(175-177)Gtg>Atg	p.V59M		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	59					defense response to bacterium	extracellular region		p.K58T(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGGACCAAAAGTGGTTAAATT	0.378000														42			20		0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607832	46607832	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:46607832C>T	uc002ink.1	-	0	441	c.435G>A	c.(433-435)ggG>ggA	p.G145G	HOXB1_uc021tzf.1_Silent_p.G145G	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	145						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						TCTGCTCGTTCCCATAAGGGG	0.642000														32			32		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185200722	185200722	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:185200722C>T	uc001grg.4	+	15	2437	c.2323C>T	c.(2323-2325)Caa>Taa	p.Q775*	SWT1_uc001grh.4_Nonsense_Mutation_p.Q775*	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	775										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GGATGTATTTCAAAGATTGGG	0.303000														71			25		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57973383	57973383	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:57973383C>T	uc002emt.2	-	15	1388	c.1323G>A	c.(1321-1323)gcG>gcA	p.A441A	CNGB1_uc010cdh.2_Silent_p.A435A	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	441					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ccttggtctccgcccagtcct	0.612000														44			13		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955711	18955711	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:18955711C>T	uc001mpg.3	-	0	839	c.621G>A	c.(619-621)cgG>cgA	p.R207R		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	207					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R207Q(1)|p.S206F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGGTATCTTCCGGGATCCAC	0.493000														53			26		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008129	46008129	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:46008129G>A	uc011bal.1	-	6	2809	c.2697C>T	c.(2695-2697)caC>caT	p.H899H	FYCO1_uc003cpb.4_Silent_p.H899H	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	899					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGTTGGCCCGGTGCAGCTGCT	0.647000														44			12		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39546648	39546648	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:39546648C>T	uc001uwx.3	-	4	450	c.312_splice	c.e4+1	p.E104_splice	STOML3_uc010tez.2_Splice_Site_p.E95_splice	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	104						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATCAGTACTACCTCTTGTGGA	0.353000														88			30		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78789516	78789516	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:78789516C>T	uc002bdr.2	+	20	2806	c.2644C>T	c.(2644-2646)Cat>Tat	p.H882Y	IREB2_uc010unb.1_Missense_Mutation_p.H632Y	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	882							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ACACAAAGATCATTTGATTGG	0.368000														63			39		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684892	44684893	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:44684892_44684893CC>TT	uc003cnm.3	+	5	2476_2477	c.2270_2271CC>TT	c.(2269-2271)acc>aTT	p.T757I	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	757					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAATCCACACCGGAGAAAAAC	0.436000														98			37		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	248368	248368	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:248368G>A	uc001qhw.2	+	3	1839	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A	IQSEC3_uc001qhu.1_Silent_p.A310A|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	613					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)		GCTCGGAGGCGTCGGCCTCCG	0.697000														18			8		0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145616618	145616618	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:145616618C>T	uc003zch.3	+	6	796	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	ADCK5_uc003zci.3_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	248	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTGGAGCTCCTGCTGCGGCT	0.637000														23			21		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049287	21049287	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:21049287G>A	uc010vbe.2	-	33	4746	c.4746C>T	c.(4744-4746)atC>atT	p.I1582I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1582	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I1582I(3)		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)		AGGTCGCAACGATCTTCTGGG	0.552000														30			11		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043986	119043986	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:119043986G>A	uc001lde.1	-	4	2457	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	753					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)		TCTCAATTTGGAAAGGTATTC	0.428000														35			24		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31224874	31224874	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:31224874G>A	uc010dmg.1	+	2	209	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	52					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						CTCTCCATTAGCCTGTCTGAA	0.433000														3			3		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86241388	86241388	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:86241388G>A	uc001dlj.3	-	52	4418	c.4343C>T	c.(4342-4344)cCc>cTc	p.P1448L	COL24A1_uc001dli.3_Missense_Mutation_p.P584L|COL24A1_uc010osf.2_Intron|COL24A1_uc010osd.2_Missense_Mutation_p.P748L|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1448	Collagen-like 17.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCACCTCTGGGTCCCTAAAA	0.328000														58			19		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555821	145555821	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:145555821C>T	uc001eob.1	+	2	278	c.170_splice	c.e2+1	p.P57_splice	ANKRD35_uc010oyx.1_Splice_Site	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	57										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCCAGTCCCCGTAAGTCAG	0.587000														27			13		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	86765	86765	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrGL000209.1:86765G>T	uc002quk.1	+	0	75	c.20G>T	c.(19-21)aGc>aTc	p.S7I	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	7							receptor activity										ATGGTCATCAGCATGGCGTGT	0.617000														142			4		1	1	1	1	0
SHKBP1	92799	broad.mit.edu	37	19	41089354	41089354	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41089354C>T	uc002oob.3	+	10	1060	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	SHKBP1_uc002ooc.3_Silent_p.L312L|SHKBP1_uc010xvl.1_Silent_p.L260L|SHKBP1_uc002ooe.3_Silent_p.L174L|SHKBP1_uc010xvm.2_Silent_p.L174L|SHKBP1_uc010xvn.2_Silent_p.L215L	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	337						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCCTCCTGGGCT	0.657000														16			19		0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805352	31805352	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:31805352C>T	uc002wyr.3	+	0	218	c.10C>T	c.(10-12)Cca>Tca	p.P4S	BPIFA3_uc002wys.3_Missense_Mutation_p.P4S	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	4						extracellular region	lipid binding										TATGATGTGTCCACTCTGGAG	0.592000														73			25		0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179671	33179671	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:33179671G>A	uc003odk.3	+	5	1205	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	RING1_uc003odl.3_Silent_p.G308G	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	337	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GGGAGGGTGGGGGTGCCGGAG	0.682000														14			9		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561504	147561504	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:147561504G>A	uc003ikv.3	+	1	1022	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	258	POU-specific.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCGGGACCTGGAGGCATTCG	0.687000														41			14		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10228256	10228256	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:10228256C>T	uc021ogc.1	+	24	4102	c.3414C>T	c.(3412-3414)ctC>ctT	p.L1138L	UBE4B_uc001aqs.4_Silent_p.L1087L|UBE4B_uc001aqr.4_Silent_p.L958L|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.L542L|UBE4B_uc001aqu.3_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1087					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCTCTTACCTCGCCCTGGCCA	0.587000														44			15		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175744	159175744	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:159175744G>A	uc001ftp.4	+	0	696	c.521G>A	c.(520-522)gGa>gAa	p.G174E	DARC_uc001fto.3_Missense_Mutation_p.G172E	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	172					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCACTGTGGGAATTTGGGGA	0.627000														37			10		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136319	103136319	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:103136319G>A	uc002tbz.4	+	9	2179	c.1722_splice	c.e9-1	p.Q574_splice		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	574					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						TGATTCCAGGGCCCAGAGGAT	0.458000														55			23		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153131188	153131188	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:153131188G>A	uc004fjb.3	-	18	2626	c.2518C>T	c.(2518-2520)Cag>Tag	p.Q840*	L1CAM_uc004fjc.3_Nonsense_Mutation_p.Q840*|L1CAM_uc010nuo.3_Nonsense_Mutation_p.Q835*	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	840	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTGACCTGGGCCAGGTCC	0.602000														68			92		0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110303	175110303	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:175110303G>A	uc003mdc.4	+	1	711	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	HRH2_uc003mdd.2_Missense_Mutation_p.V23M	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	23					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.T22T(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CACCATCACCGTGGTCCTTGC	0.587000														218			4		0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8328461	8328461	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8328461G>A	uc001qud.1	+	3	313	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TTCAGACAGGGAAAGTGCCCT	0.338000														68			26		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693441	99693441	+	Silent	SNP	G	A	A	rs149943121		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:99693441G>A	uc003usw.1	-	10	2061	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	MCM7_uc003usv.1_Silent_p.L341L|MCM7_uc003usx.1_Silent_p.L341L|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	517	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCAGCCAGAGGAGGTCAAACC	0.597000														140			43		0	0	1	0	0
ZNF330	27309	broad.mit.edu	37	4	142154923	142154923	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:142154923C>T	uc003iiq.4	+	9	963	c.743C>T	c.(742-744)tCt>tTt	p.S248F	ZNF330_uc011chl.2_Missense_Mutation_p.S188F	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	Homo sapiens zinc finger protein 330 (ZNF330), mRNA.	248						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GATGGAGCTTCTGGGTATGAT	0.453000														39			19		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490960	157490960	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:157490960G>A	uc009wsm.3	-	10	2520	c.2362C>T	c.(2362-2364)Cat>Tat	p.H788Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H788Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	788	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.F787F(1)		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)				ACATCCTCATGAAAAAACCGG	0.592000														96			39		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159181713	159181713	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:159181713G>A	uc003qrp.3	+	15	1749	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	SYTL3_uc003qrr.3_Silent_p.E450E|SYTL3_uc003qro.3_Silent_p.E382E|SYTL3_uc003qrs.3_Silent_p.E382E|SYTL3_uc011efq.2_Silent_p.E176E	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	450					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GTAATGGAGAGCTCACAGTCC	0.557000														87			18		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176293	57176293	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:57176293C>T	uc010ygn.2	-	1	501	c.274G>A	c.(274-276)Gag>Aag	p.E92K		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						GGATGCCTCTCCTTCGGGCTC	0.642000														71			46		0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94800813	94800813	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:94800813C>G	uc001pff.3	+	0	758	c.423C>G	c.(421-423)tgC>tgG	p.C141W		NM_032102	NP_115285	Q9BRL6	SRSF8_HUMAN	Homo sapiens serine/arginine-rich splicing factor 8 (SRSF8), mRNA.	141	Arg-rich.				RNA splicing|mRNA processing	nucleus	RNA binding|nucleotide binding										GTCCCAGCTGCTCCAGGTCCC	0.706000														15			10		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740659	62740659	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:62740659G>A	uc001dah.4	-	2	494	c.117C>T	c.(115-117)ttC>ttT	p.F39F	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.	39										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						CATACTTGAGGAAGTCCAGGT	0.488000														110			87		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929497	4929497	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:4929497G>A	uc010qyq.2	+	0	898	c.898G>A	c.(898-900)Gag>Aag	p.E300K		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAATCTGGGAGAAGATCTT	0.398000														68			21		0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29365824	29365824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:29365824C>T	uc001brm.2	+	10	1649	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	EPB41_uc001brg.2_Nonsense_Mutation_p.R299*|EPB41_uc001brh.2_Nonsense_Mutation_p.R299*|EPB41_uc001brj.2_Nonsense_Mutation_p.R299*|EPB41_uc001bri.2_Nonsense_Mutation_p.R473*|EPB41_uc009vtk.2_Nonsense_Mutation_p.R473*|EPB41_uc001brk.3_Nonsense_Mutation_p.R508*|EPB41_uc001brl.2_Nonsense_Mutation_p.R508*|EPB41_uc021okg.1_Nonsense_Mutation_p.R508*|EPB41_uc009vtm.2_Nonsense_Mutation_p.R141*|EPB41_uc009vtl.2_Nonsense_Mutation_p.R299*	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	508	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATCCAAATTTCGATACAGTGG	0.468000														113			100		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84485667	84485667	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:84485667G>A	uc010chj.3	+	17	1890	c.1801G>A	c.(1801-1803)Ggg>Agg	p.G601R	ATP2C2_uc002fhx.3_Missense_Mutation_p.G601R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G618R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G450R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	601					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G601R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATGATAACGGGGGATGCCCT	0.582000														76			21		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37888527	37888527	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:37888527G>A	uc003asx.1	-	17	2683	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.S207F|CARD10_uc003asw.1_Missense_Mutation_p.S603F|CARD10_uc003asy.1_Missense_Mutation_p.S889F	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	889					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGGCGCTGAGGATGGGCACAG	0.672000														48			17		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513613	99513613	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:99513613G>A	uc003dti.1	+	2	999	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G290R|COL8A1_uc003dth.1_Missense_Mutation_p.G290R	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	290	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						GGGAAAGCCAGGGGCTCCAGG	0.657000														58			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49424510	49424510	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:49424510G>A	uc001rta.4	-	40	13713	c.13713C>T	c.(13711-13713)gcC>gcT	p.A4571A		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4571					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						GGCTAAAATTGGCGGTGATAG	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				93			29		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211443	45211443	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:45211443G>A	uc010xxd.2	+	5	1457	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	417										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CACTGGAAGTGGAGCTGCAGG	0.587000														17			7		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100695516	100695516	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:100695516C>T	uc002bvv.1	-	8	1270	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	ADAMTS17_uc002bvx.1_Missense_Mutation_p.M154I	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	397	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGTCGTGGTTCATGCCCAAGC	0.532000														19			10		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55703551	55703551	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:55703551G>A	uc021tio.1	+	1	400	c.349G>A	c.(349-351)Gga>Aga	p.G117R	SLC6A2_uc002eif.3_Missense_Mutation_p.G117R|SLC6A2_uc002eig.3_Missense_Mutation_p.G117R|SLC6A2_uc002eii.3_5'Flank	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	117					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)	GCTGGCTCTGGGACAGTACAA	0.542000														74			32		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119625972	119625972	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:119625972C>T	uc004bjt.2	-	9	1878	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	ASTN2_uc022bml.1_Missense_Mutation_p.D289N|ASTN2_uc022bmm.1_Missense_Mutation_p.D293N	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	644						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						GACAGCAGGTCATTGATGGTT	0.493000														45			14		0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57984943	57984943	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:57984943C>T	uc001sou.3	+	1	1	c.-130_splice	c.e1-1		PIP4K2C_uc001sot.3_Splice_Site|PIP4K2C_uc010srs.2_Splice_Site|PIP4K2C_uc010srt.2_Splice_Site	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.							cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					cgTCCTGCCTCGCCCTGTTCG	0.761000														11			6		0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533538	3533538	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3533538C>T	uc002cvh.4	+	5	759	c.513C>T	c.(511-513)ctC>ctT	p.L171L	NAA60_uc010uxb.1_Silent_p.L178L|NAA60_uc010btk.1_Silent_p.L106L|NAA60_uc010btl.3_Intron|NAA60_uc021tcf.1_Silent_p.L171L|NAA60_uc010btm.3_Silent_p.L171L|NAA60_uc010uxd.2_Intron|NAA60_uc010uxe.2_Intron|NAA60_uc002cvg.2_Silent_p.L171L	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	171	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GAGGGGTCCTCAAAGATGGCT	0.488000														72			35		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42893136	42893136	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:42893136G>A	uc010zwl.2	+	4	821	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	GDAP1L1_uc002xlp.1_Missense_Mutation_p.E233K|GDAP1L1_uc002xlq.3_Missense_Mutation_p.E233K|GDAP1L1_uc010zwm.2_Missense_Mutation_p.E175K|GDAP1L1_uc010zwn.2_Missense_Mutation_p.E41K	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	233	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCCTCGGGGAACTGGCCAT	0.612000											OREG0006458	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=GDAP1L1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		51			20		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753855	113753855	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:113753855C>T	uc003eax.3	-	5	882	c.735G>A	c.(733-735)gaG>gaA	p.E245E	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.E223E|KIAA1407_uc011bip.1_Silent_p.E232E	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	245										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTCCTCTTCCTCTTTCTTGG	0.473000														130			44		0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152336	117152336	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:117152336C>T	uc001pqt.3	+	9	1302	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	RNF214_uc001pqu.3_Silent_p.I419I|RNF214_uc010rxf.2_Silent_p.I264I	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	419							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		ATAGTCATATCCAGTTAGTGA	0.448000														214			56		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481464	159481464	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:159481464C>T	uc002tzv.3	+	6	938	c.678C>T	c.(676-678)atC>atT	p.I226I	PKP4_uc002tzt.1_Silent_p.I78I|PKP4_uc002tzu.3_Silent_p.I226I|PKP4_uc002tzw.3_Silent_p.I226I|PKP4_uc002tzx.3_Intron|PKP4_uc002tzy.1_Intron|PKP4_uc002tzz.1_Silent_p.I224I|PKP4_uc002uaa.3_Silent_p.I78I	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	226					cell adhesion	desmosome	protein binding	p.I226L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CTTATGTTATCAGCACAGGCG	0.522000										HNSCC(62;0.18)				101			41		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43545011	43545011	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:43545011A>G	uc001zrd.2	-	5	816	c.808T>C	c.(808-810)Tgc>Cgc	p.C270R	TGM5_uc001zre.2_Missense_Mutation_p.C188R	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	270					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)	ACGGGCTGGCAGCCTGTGGCG	0.592000														99			36		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118366	118366	+	RNA	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrGL000205.1:118366C>T	uc002kgk.4	+	0		c.1744C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACATCATCCCTGGAGACAT	0.557000														99			5		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100176341	100176341	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:100176341A>T	uc003uvj.3	-	4	720	c.667T>A	c.(667-669)Ttc>Atc	p.F223I	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	223					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGGCAGAAGGAGACTGGG	0.632000														82			26		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83931899	83931899	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:83931899C>T	uc002bjt.1	-	3	2192	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	BNC1_uc010uos.1_Missense_Mutation_p.E690K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	702					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						TGCTCCAGTTCTTTAGAATCT	0.473000														66			24		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188223	7188223	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:7188223G>A	uc003bqm.2	+	1	878	c.604G>A	c.(604-606)Gat>Aat	p.D202N	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.D202N|GRM7_uc003bql.2_Missense_Mutation_p.D202N	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	202					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGTGCCACCCGATTCCTTCCA	0.512000														90			36		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096131	167096131	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:167096131C>T	uc001geb.1	+	4	1779	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	588					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCTGACAGCCTACCAGGCC	0.602000														52			18		0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84634288	84634288	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:84634288C>T	uc003pkf.3	+	9	923	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	264					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	p.S264*(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AATCATAATTCACTTATTCCA	0.368000														94			28		0	0	1	0	0
DNAJC8	22826	broad.mit.edu	37	1	28559472	28559472	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:28559472C>T	uc001bpn.3	-	0	71	c.38G>A	c.(37-39)gGa>gAa	p.G13E	DNAJC8_uc001bpo.3_Non-coding_Transcript	NM_014280	NP_055095	O75937	DNJC8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA.	13					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTGCCTCCGCCGCCTGA	0.622000														66			55		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014449	53014449	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:53014449G>A	uc002pzp.4	+	5	1059	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	47					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)		AATGAGAAGCGATACCTTGCA	0.368000														197			56		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923100	158923100	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:158923100C>T	uc003qrf.3	+	12	3762	c.2405C>T	c.(2404-2406)gCc>gTc	p.A802V	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	802					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)		CAGAAGTCAGCCAAGGCCCTG	0.667000														71			19		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949405	7949405	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:7949405C>T	uc010rbh.2	-	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	269					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)		TTCTTGGTTTCCGGTGAGTAG	0.448000														80			41		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644490	18644490	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:18644490G>A	uc001rdt.3	+	18	2784	c.2668G>A	c.(2668-2670)Gat>Aat	p.D890N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.D931N|PIK3C2G_uc010sic.2_Missense_Mutation_p.D709N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	890					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATTGATCACGATGTAAGTCA	0.328000														63			26		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916868	149916868	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:149916868T>G	uc001etn.3	-	11	1776	c.1420A>C	c.(1420-1422)Agc>Cgc	p.S474R		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	474					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|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)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGAACTGCTGCCAACTGAC	0.607000														102			39		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253736	47253736	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:47253736G>A	uc003oyv.3	-	1	1125	c.692C>T	c.(691-693)cCa>cTa	p.P231L		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	231					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCAGGGCGTGGAAAGATGGC	0.522000														59			12		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123912687	123912687	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:123912687C>A	uc004bkx.1	+	22	3920	c.3889C>A	c.(3889-3891)Cca>Aca	p.P1297T	CNTRL_uc004bky.1_Missense_Mutation_p.P901T|CNTRL_uc004bla.1_Missense_Mutation_p.P745T|CNTRL_uc010mvo.1_Intron|CNTRL_uc004blb.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1297	Pro-rich.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTATGGGCCTCCACCCCCCAA	0.552000														77			39		2.32173e-10	2.35126e-10	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576630	33576630	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:33576630C>T	uc003jia.1	-	18	3664	c.3501G>A	c.(3499-3501)gaG>gaA	p.E1167E	ADAMTS12_uc010iuq.1_Silent_p.E1082E	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1167	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCTTTGTCCTCAGGCTGTT	0.458000										HNSCC(64;0.19)				89			25		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62522197	62522197	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:62522197A>C	uc003dll.2	-	11	2386	c.2026T>G	c.(2026-2028)Ttt>Gtt	p.F676V	CADPS_uc003dlk.1_Missense_Mutation_p.F180V|CADPS_uc003dlm.2_Missense_Mutation_p.F676V|CADPS_uc003dln.2_Missense_Mutation_p.F676V|CADPS_uc021wzv.1_Missense_Mutation_p.F676V	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	676					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)		GCGTGGTCAAAGTTACAGGGG	0.398000														142			14		0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831954	5831954	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:5831954A>T	uc002mdf.1	-	3	1151	c.625T>A	c.(625-627)Tac>Aac	p.Y209N	FUT6_uc021unl.1_Missense_Mutation_p.Y209N|FUT6_uc002mdg.1_Missense_Mutation_p.Y209N|FUT6_uc002mdh.1_Missense_Mutation_p.Y209N|FUT6_uc021unm.1_Missense_Mutation_p.Y209N	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	209					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGGCTCTGGTAGTAGCGCACC	0.657000														81			43		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321450	141321450	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:141321450G>A	uc003yvh.2	-	9	1828	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L	TRAPPC9_uc003yvj.2_Silent_p.L507L|TRAPPC9_uc003yvi.1_Silent_p.L498L	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	507					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TAGTTCTCTAGGCTTTGGGCC	0.502000														53			22		0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84867744	84867744	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:84867744G>A	uc001djt.1	+	1	319	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA.	96					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ACAGCTATATGAAGCATATGC	0.368000														18			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179482797	179482797	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179482797G>A	uc021vsy.1	-	201	39802	c.39577C>T	c.(39577-39579)Cct>Tct	p.P13193S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P6888S|TTN_uc021vta.1_Missense_Mutation_p.P6821S|TTN_uc021vtb.1_Missense_Mutation_p.P6696S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14120	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAAGGAGGGCCTGGAACA	0.418000														51			21		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067869	3067869	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:3067869G>A	uc003bpc.3	+	14	1909	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CNTN4_uc003bpb.1_Missense_Mutation_p.D196N|CNTN4_uc021wsg.1_Missense_Mutation_p.D524N|CNTN4_uc003bpd.1_Missense_Mutation_p.D524N|CNTN4_uc003bpe.3_Missense_Mutation_p.D196N|CNTN4_uc003bpf.3_Missense_Mutation_p.D196N	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	524	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTAACGCATGATCACTCGCT	0.443000														52			9		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102487043	102487043	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:102487043C>T	uc003kod.4	+	8	1512	c.993C>T	c.(991-993)tcC>tcT	p.S331S	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Silent_p.S331S|PPIP5K2_uc010jbo.2_Silent_p.S253S	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	331					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.S331A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAAAAATTCCATGAAGTATT	0.313000														30			18		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430690	149430690	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:149430690C>T	uc003wfz.3	+	17	3043	c.2644C>T	c.(2644-2646)Cct>Tct	p.P882S	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.P490S	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	883										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCACGAGGCCTAAACCAAA	0.657000														8			6		0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434875	1434875	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:1434875C>T	uc002lsn.3	+	11	1377	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	396					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGCAGAACCACAACGTGC	0.687000														10			6		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375591	46375591	+	Missense_Mutation	SNP	C	T	T	rs145277260	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:46375591C>T	uc002pdr.3	+	1	525	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	110					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GAAGGGGTATCGGCGGCCCCT	0.642000														75			90		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750118	142750118	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:142750118C>T	uc011ksv.2	+	0	681	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGCGGATCCCCTCTGCCAGCA	0.537000														163			76		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491342	30491342	+	Missense_Mutation	SNP	G	A	A	rs148340769		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:30491342G>A	uc003tav.3	-	5	2214	c.1691C>T	c.(1690-1692)cCg>cTg	p.P564L		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	564					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.P564P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCACTGGAACGGGAGGAAGGG	0.627000														106			53		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668893	53668894	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:53668893_53668894GG>AA	uc010eqm.1	-	3	949_950	c.849_850CC>TT	c.(847-852)atccat>atTTat	p.H284Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGTATGGATGACCTGAT	0.411000														176			41		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555065	44555065	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:44555065G>A	uc010xdb.2	-	0	1385	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	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.	383	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.N382Y(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GAGCGAGTGCGGCATTGTCTT	0.572000														816			20		0	0	1	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632748	28632748	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:28632748G>A	uc010uag.1	+	15	1404	c.1280_splice	c.e15-1	p.G427_splice	GOLGA8F_uc001zbn.2_Splice_Site_p.G225_splice|GOLGA8F_uc001zbp.3_Splice_Site_p.G221_splice|JA429730_uc021sgl.1_5'Flank					Homo sapiens golgin A8 family, member F (GOLGA8F), non-coding RNA.											lung(4)	4						CCACCCCCAGGAGATGGAGGA	0.622000														56			10		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847944	166847944	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:166847944G>A	uc002udo.4	-	27	6068	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	SCN1A_uc010fpk.3_Silent_p.I1919I|SCN1A_uc021vsb.1_Silent_p.I1936I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1947						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCCACCTTTGATTTTGTTTT	0.358000														40			12		0	0	1	0	0
GUCA2B	2981	broad.mit.edu	37	1	42619156	42619156	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:42619156G>A	uc001chc.1	+	0	65	c.35G>A	c.(34-36)gGa>gAa	p.G12E		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	12					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCCTGCCAGGAGTGGCCGTG	0.657000														37			17		0	0	1	0	0
MIR505	574508	broad.mit.edu	37	X	139006321	139006321	+	RNA	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:139006321G>A	uc022cfe.1	-	0		c.70C>T								Homo sapiens microRNA 505 (MIR505), microRNA.																		CTCCAGAGAGGAAACCAGCAA	0.458000														98			4		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307858	39307858	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:39307858C>T	uc021wwc.1	-	1	279	c.239G>A	c.(238-240)gGa>gAa	p.G80E	CX3CR1_uc021wwa.1_Missense_Mutation_p.G48E|CX3CR1_uc021wwb.1_Missense_Mutation_p.G48E|CX3CR1_uc003cjl.3_Missense_Mutation_p.G48E|CX3CR1_uc021wwd.1_Missense_Mutation_p.G48E	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	48					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAACAAATTTCCCACCAGGCC	0.488000														68			18		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176824	49176824	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:49176824G>A	uc001rsh.4	-	0	1054	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	ADCY6_uc001rsi.4_Missense_Mutation_p.R132C|ADCY6_uc001rsj.4_Missense_Mutation_p.R132C	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	132					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.R132C(2)|p.R132H(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGGCCGAACGGAACTGCTTC	0.667000														78			31		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711560	152711560	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:152711560C>T	uc021zhb.1	-	50	8255	c.8032G>A	c.(8032-8034)Gaa>Aaa	p.E2678K	SYNE1_uc003qot.4_Missense_Mutation_p.E2685K|SYNE1_uc003qou.4_Missense_Mutation_p.E2678K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2661K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2678					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)		AACTTAACTTCCCCTTCACCT	0.403000										HNSCC(10;0.0054)				35			8		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085537	87085537	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:87085537G>A	uc002srw.3	-	1	105	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.L16F|CD8B_uc002sry.3_Missense_Mutation_p.L16F|CD8B_uc010fgt.3_Missense_Mutation_p.L16F|CD8B_uc002srz.3_Missense_Mutation_p.L16F|CD8B_uc010yto.2_Missense_Mutation_p.L16F	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	16					T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TTGCCATGGAGAACTAGGAAA	0.488000														40			23		0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66568506	66568506	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:66568506G>C	uc021qmd.1	+	7	785	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	C11orf80_uc010rpk.2_Missense_Mutation_p.E94Q	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	105										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TTGCAGGGTGGAGAATGAACC	0.453000														42			9		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101062652	101062652	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:101062652G>A	uc003dut.3	-	13	2095	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S	SENP7_uc003duu.3_Missense_Mutation_p.P597S|SENP7_uc003duv.3_Missense_Mutation_p.P629S|SENP7_uc003duw.3_Missense_Mutation_p.P596S|SENP7_uc003dux.3_Missense_Mutation_p.P498S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	662					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGAAACAAAGGAAATGCCTGA	0.358000														39			16		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77283278	77283278	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:77283278C>T	uc003hkb.4	-	12	2173	c.2020_splice	c.e12+1	p.E674_splice		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	674										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AAGCAACATACCTGAAAGATT	0.408000														46			13		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103313	52103313	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:52103313C>T	uc001jje.3	-	6	1516	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.E188K|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.E188K|SGMS1_uc021pqo.1_Missense_Mutation_p.E188K|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	194					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCATTAATTTCACAAATAGAA	0.433000														49			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9021104	9021104	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9021104G>A	uc002mkp.3	-	18	37423	c.37219C>T	c.(37219-37221)Cac>Tac	p.H12407Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12409	SEA 3.				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						GAGCCAGGGTGACCCATGTCC	0.547000														84			61		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114442165	114442165	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:114442165C>T	uc001ppc.3	-	5	1311	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	FAM55D_uc001ppd.3_Missense_Mutation_p.G93E	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	377						extracellular region		p.S376F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		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;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TTGCAATTTTCCAGATTCATG	0.378000														132			43		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														48			18		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973506	74973506	+	Missense_Mutation	SNP	C	T	T	rs61738014		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:74973506C>T	uc001xqa.3	-	26	4315	c.3928G>A	c.(3928-3930)Gac>Aac	p.D1310N		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1310	Cys-rich.|EGF-like 15; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACATGGTGTCGTTGGCGCAC	0.592000														33			19		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919285	13919285	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13919285C>T	uc003jfd.2	-	7	1017	c.975_splice	c.e7+1	p.K325_splice	DNAH5_uc003jfe.1_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	325	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)					GGCTGACGACCTTCAGCAGTT	0.413000									Kartagener syndrome					102			33		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168314949	168314949	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:168314949G>A	uc021zik.1	+	15	2335	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	MLLT4_uc003qwb.1_Silent_p.L697L|MLLT4_uc003qwc.2_Silent_p.L713L|MLLT4_uc021zij.1_Silent_p.L697L|MLLT4_uc021zim.1_Silent_p.L259L|MLLT4_uc003qwg.1_Silent_p.L22L	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	713	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGATCACACTGGATGCTCAAG	0.393000			T	MLL	AL									60			11		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551105	7551105	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:7551105C>T	uc010sge.2	-	6	1540	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	CD163L1_uc001qsy.3_Missense_Mutation_p.G495E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	495	SRCR 5.					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						CCCCCACTCTCCTTGGTATTT	0.473000														95			25		0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27614140	27614140	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:27614140C>T	uc002hdy.4	-	1	961	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	291						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGGTTTTCCTCGACTTGTTCC	0.453000														46			47		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143902	55143902	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:55143902G>A	uc002lgo.3	+	1	1494	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	488					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GTGGCAAGACGATCTGAGCAC	0.577000														58			16		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498118	220498118	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:220498118C>T	uc002vmo.4	+	9	1690	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	SLC4A3_uc002vmp.4_Missense_Mutation_p.T467I|SLC4A3_uc010fwm.3_Missense_Mutation_p.P9S|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	467					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGTGCCTACCATGGCTGAT	0.617000														73			28		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445848	98445848	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:98445848G>A	uc003upo.3	-	7	1328	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	TMEM130_uc011kiq.2_Intron|TMEM130_uc011kir.2_Intron|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	380						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATGGGGGAAAAGTCAAA	0.567000														35			15		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852346	97852346	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:97852346G>A	uc011bgt.2	+	0	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCAAGCAGATGATCAAGATAT	0.433000														100			38		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47343395	47343395	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:47343395G>A	uc001wwj.4	-	12	2604	c.2446C>T	c.(2446-2448)Cat>Tat	p.H816Y	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.H518Y|MDGA2_uc010ani.3_Missense_Mutation_p.H307Y	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	747	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATCCACAATGAAATTCTCCT	0.239000														27			8		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127361428	127361428	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:127361428C>T	uc003vmi.3	+	9	1352	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	SND1_uc010lle.3_Missense_Mutation_p.P29S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	376	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CATCCGACCACCGAGGCTGGA	0.483000														69			22		0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211461	8211461	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:8211461C>T	uc001qtv.1	-	1	1413	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	C3AR1_uc021quj.1_Missense_Mutation_p.D441N	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	441					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478000														69			28		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														66			27		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764323	82764323	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:82764323G>A	uc003uhx.2	-	2	2832	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	PCLO_uc003uhv.2_Missense_Mutation_p.P848L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	794	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P848P(1)|p.P848S(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						CTTTTGTACGGGGTCAACTTG	0.453000														165			81		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545520	196545520	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:196545520C>T	uc002utg.4	+	1	968	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	SLC39A10_uc002uth.4_Missense_Mutation_p.P252S|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	252					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACCAGGTTTTCCCCCTAACCA	0.413000														57			18		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179668	90179668	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:90179668C>T	uc001dnl.4	+	2	1781	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	513						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGTATGGGCTCCGAAATCTGG	0.478000														58			38		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945117	144945117	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:144945117C>T	uc003zaa.1	-	0	2318	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	769						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.F768F(1)		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)			GTGTTGGGGTCGAAGAAGCCC	0.627000														154			64		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30046618	30046618	+	Silent	SNP	G	A	A	rs143388121		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:30046618G>A	uc001wqh.3	-	17	2746	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	855					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.I855I(3)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGCGCTCCCCGATTTTGCATT	0.468000														53			33		0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72712089	72712089	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:72712089G>A	uc009ytl.3	-	4	554	c.333C>T	c.(331-333)ttC>ttT	p.F111F	FCHSD2_uc010rrg.2_Intron|FCHSD2_uc001oth.4_Silent_p.F55F|FCHSD2_uc001oti.2_Silent_p.F70F	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	111							protein binding	p.F111F(1)|p.F55F(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GCTCAGAAATGAAGTTTTTAT	0.363000														13			6		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28967277	28967277	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:28967277G>A	uc003nlu.2	-	4	808	c.297C>T	c.(295-297)aaC>aaT	p.N99N	ZNF311_uc011dlk.1_Silent_p.N7N|ZNF311_uc003nlv.2_Silent_p.N7N	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTGATACCATGTTCCCATAAT	0.363000														84			25		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542495	10542495	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:10542495G>A	uc002gmq.2	-	24	3202	c.3114C>T	c.(3112-3114)tcC>tcT	p.S1038S		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1038					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTGTTCTAGGGAGCTTTCCA	0.473000														44			36		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672385	186672385	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:186672385G>C	uc002upl.3	+	16	18619	c.18619G>C	c.(18619-18621)Gtt>Ctt	p.V6207L	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						AGAAAACATAGTTGACTTGGT	0.393000														106			37		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103866894	103866894	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:103866894G>A	uc001phq.3	-	2	781	c.409C>T	c.(409-411)Cct>Tct	p.P137S	PDGFD_uc001php.3_Missense_Mutation_p.P131S	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	137	CUB.				positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ATCCTTGGAGGAACTTCCTTG	0.358000														49			30		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74282051	74282051	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:74282051G>A	uc003hgs.4	+	9	1343	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	ALB_uc011cbe.2_Missense_Mutation_p.E103K|ALB_uc003hgw.4_Missense_Mutation_p.E232K|ALB_uc011cbf.2_Missense_Mutation_p.E314K	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	424	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCAGCTTGGAGAGTACAAATT	0.303000														23			8		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214354804	214354804	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:214354804C>T	uc002veq.3	+	9	1152	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	SPAG16_uc010fuz.2_Missense_Mutation_p.P205S|SPAG16_uc002ver.3_Missense_Mutation_p.P300S|SPAG16_uc010zjk.2_Missense_Mutation_p.P260S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	354					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CCATGAACTTCCAGTGAGCTG	0.318000														18			8		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394471	233394471	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:233394471C>T	uc001hvl.2	-	4	1372	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	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.	379						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)				TACTGCTCATCGTGATAACAA	0.493000														106			48		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031240	33031240	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:33031240G>A	uc001rlj.4	-	2	689	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	PKP2_uc001rlk.4_Missense_Mutation_p.P192S|PKP2_uc010skj.2_Missense_Mutation_p.P192S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	192					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCATATCTCGGTGGCACTAGG	0.612000														76			35		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272629	158272629	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:158272629C>T	uc002tzj.1	-	7	712	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CYTIP_uc010zcl.1_Missense_Mutation_p.E108K	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	214					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCCATGTTTTCCAAACTGGGG	0.458000														42			19		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707165	96707165	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:96707165G>A	uc010avm.1	+	2	696	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.R140Q|BDKRB2_uc001yfg.2_Missense_Mutation_p.R167Q	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	167					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)		TCCATGGGCCGGATGCGCGGC	0.582000														176			4		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	601395	601395	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:601395C>T	uc002chi.3	+	7	2523	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	720	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				ATGCCTACTCCATCCTGGATG	0.657000														87			51		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85345586	85345586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:85345586C>T	uc002bld.3	+	10	4102	c.3766C>T	c.(3766-3768)Cag>Tag	p.Q1256*	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	1256					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGGCCTCTCAGGACCAGGA	0.622000														39			19		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168802779	168802779	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:168802779G>A	uc011bpj.1	-	16	4041	c.3638C>T	c.(3637-3639)tCc>tTc	p.S1213F	MECOM_uc010hwk.1_3'UTR|MECOM_uc003ffj.3_Missense_Mutation_p.S1090F|MECOM_uc003ffi.3_Missense_Mutation_p.S1025F|MECOM_uc011bpi.1_Missense_Mutation_p.S1017F|MECOM_uc003ffn.3_Missense_Mutation_p.S1025F|MECOM_uc003ffk.2_Missense_Mutation_p.S1016F|MECOM_uc003ffl.2_Missense_Mutation_p.S1176F|MECOM_uc011bpk.1_Missense_Mutation_p.S1025F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGAACTGTGGGATGTAGAATG	0.488000														97			47		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500833	66500833	+	RNA	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:66500833A>C	uc004aed.1	+	2		c.926A>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CCATGAAACCACCTGGTGCCC	0.632000														38			4		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200468	31200468	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:31200468C>T	uc002ebf.3	+	8	962	c.857C>T	c.(856-858)aCc>aTc	p.T286I	FUS_uc002ebe.2_Missense_Mutation_p.T282I|FUS_uc002ebg.3_Missense_Mutation_p.T81I|FUS_uc002ebh.3_Missense_Mutation_p.T285I|FUS_uc010caj.1_Intron	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	286	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GACAACAACACCATCTTTGTG	0.388000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									164			65		0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54283525	54283525	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:54283525G>A	uc002lgg.3	-	4	1112	c.513C>T	c.(511-513)ttC>ttT	p.F171F	TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Silent_p.F171F|TXNL1_uc002lgj.1_Silent_p.F171F	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	171	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CAGGTTGATTGAATGCCACAG	0.348000														26			12		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599404	57599404	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:57599404G>A	uc002yak.3	+	3	1191	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	308					'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)	CCTCCGCCGTGGCCGCTACCT	0.632000														47			24		0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75435104	75435104	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:75435104G>A	uc009xri.3	-	7	1355	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	AGAP5_uc001juu.4_Silent_p.I399I	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	438	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TCTGGCTCTGGATGGCTTGGA	0.557000														55			40		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8484167	8484167	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:8484167C>T	uc003zkk.3	-	29	4108	c.3365G>A	c.(3364-3366)gGc>gAc	p.G1122D	PTPRD_uc003zkp.3_Missense_Mutation_p.G711D|PTPRD_uc003zkq.3_Missense_Mutation_p.G711D|PTPRD_uc003zkr.3_Missense_Mutation_p.G706D|PTPRD_uc003zks.3_Missense_Mutation_p.G701D|PTPRD_uc022bdj.1_Missense_Mutation_p.G708D	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1122					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTAATCATGCCATCCAAGTT	0.458000										TSP Lung(15;0.13)				45			34		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97861254	97861254	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:97861254G>A	uc003upg.3	-	12	2041	c.1836C>T	c.(1834-1836)acC>acT	p.T612T	TECPR1_uc003uph.1_Silent_p.T542T	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	612	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGCGCCCCGGTCTTCACCC	0.721000														35			8		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191721	152191721	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:152191721C>T	uc001ezt.1	-	2	2460	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	795					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)			TGTGCCAGACCCGTGTTGGCC	0.602000														87			29		0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448462	89448462	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:89448462G>A	uc021opo.1	-	0	1048	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.P350S|RBMXL1_uc001dms.3_Missense_Mutation_p.P350S	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	350	Ser-rich.						RNA binding|nucleotide binding										TCTACAGAAGGGGGAAGCCCT	0.532000														266			83		0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797050	33797050	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:33797050C>T	uc009vuh.1	-	11	2394	c.1905G>A	c.(1903-1905)gaG>gaA	p.E635E	PHC2_uc001bxg.1_Silent_p.E634E|PHC2_uc001bxh.1_Silent_p.E606E|PHC2_uc001bxe.1_Silent_p.E99E|PHC2_uc001bxf.1_Silent_p.E49E	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	634					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)				GGGGAGCACCCTCCTCTTTGG	0.527000														170			53		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624013	92624013	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:92624013G>A	uc001pdj.4	+	24	13425	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	FAT3_uc001pdi.4_Missense_Mutation_p.E942K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4502	Pro-rich.				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)				ATTCCCCAACGAAACGGATTT	0.592000										TCGA Ovarian(4;0.039)				44			21		0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79804344	79804344	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:79804344G>A	uc002kbn.1	-	6	1214	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	P4HB_uc002kbl.1_Silent_p.I16I|P4HB_uc002kbm.1_Silent_p.I16I	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	339					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGAACTCTGTGATCCTCTCTG	0.642000														59			88		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966851	25966851	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:25966851G>A	uc002rgs.2	-	11	2576	c.2355C>T	c.(2353-2355)gtC>gtT	p.V785V	ASXL2_uc002rgt.1_Silent_p.V525V	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	785					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)					ATGCTCCACTGACGGCAGGTG	0.552000														100			30		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228973656	228973656	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:228973656C>T	uc002vpq.2	-	3	186	c.139_splice	c.e3-1	p.V47_splice	SPHKAP_uc002vpp.2_Splice_Site_p.V47_splice|SPHKAP_uc010zlx.1_Splice_Site_p.V47_splice	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	47						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)		TGCGAAGAACCTGGAGGAACC	0.408000														47			14		0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42720522	42720522	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:42720522G>A	uc002yzb.1	+	6	635	c.489G>A	c.(487-489)ctG>ctA	p.L163L	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.L115L	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	163					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCTGCAGACTGAATAACGATG	0.468000														59			22		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215802155	215802155	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:215802155C>T	uc001hku.1	-	71	15906	c.15519_splice	c.e71+1	p.L5173_splice		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5173					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)		AACCAACTCACCAGTCCACTG	0.502000										HNSCC(13;0.011)				51			22		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50450145	50450145	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:50450145G>A	uc002lfe.2	+	3	1382	c.766G>A	c.(766-768)Gat>Aat	p.D256N	DCC_uc010xdr.1_Missense_Mutation_p.D104N	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	256	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.K255E(1)		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)		TGAAGGAAAAGATGCTGTCCT	0.423000														35			13		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613318	39613318	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:39613318C>T	uc003xnj.3	-	15	1801	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	ADAM2_uc003xnk.3_Missense_Mutation_p.E557K|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Missense_Mutation_p.E420K	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	576	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGGCAAATTCCACAGCAATG	0.333000														47			21		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390888	197390888	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:197390888C>T	uc001gtz.3	+	5	2139	c.1930C>T	c.(1930-1932)Caa>Taa	p.Q644*	CRB1_uc010poz.2_Nonsense_Mutation_p.Q575*|CRB1_uc009wza.3_Nonsense_Mutation_p.Q532*|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Nonsense_Mutation_p.Q644*|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Nonsense_Mutation_p.Q125*|CRB1_uc001gub.1_Nonsense_Mutation_p.Q293*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	644	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						AGGCTGTCTCCAAGACATTAA	0.438000														91			50		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732223	92732223	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:92732223C>T	uc003umf.3	-	2	3458	c.3188G>A	c.(3187-3189)gGa>gAa	p.G1063E	SAMD9_uc003umg.3_Missense_Mutation_p.G1063E|SAMD9_uc022ahg.1_Missense_Mutation_p.G1063E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1063						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)			TGCTTCATTTCCTTCATCTTT	0.393000														50			19		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080414	42080414	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr21:42080414C>T	uc002yyq.1	-	1	779	c.327G>A	c.(325-327)ggG>ggA	p.G109G	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.	109	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)				TTCTAATTTTCCCTGAAGGAT	0.443000														86			39		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904750	73904750	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:73904750G>A	uc011dyh.2	+	14	2816	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	KCNQ5_uc011dyi.2_Missense_Mutation_p.M814I|KCNQ5_uc010kat.3_Missense_Mutation_p.M795I|KCNQ5_uc003pgk.3_Missense_Mutation_p.M804I|KCNQ5_uc011dyj.2_Missense_Mutation_p.M694I|KCNQ5_uc011dyk.2_Missense_Mutation_p.M554I	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	804					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACCGTTCTATGAGGAAAAGCT	0.483000														55			36		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966399	41966399	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:41966399C>T	uc010skn.2	+	9	1826	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L	PDZRN4_uc001rmq.4_Silent_p.L348L|PDZRN4_uc009zjz.3_Silent_p.L346L|PDZRN4_uc001rmr.3_Silent_p.L233L	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	606							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGAGAGCCTCGTATCTGGTG	0.488000														50			22		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43219767	43219767	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:43219767G>A	uc002lbe.3	+	6	1716	c.900G>A	c.(898-900)tgG>tgA	p.W300*	SLC14A2_uc002lbb.3_Nonsense_Mutation_p.W300*|SLC14A2_uc010dnj.3_Nonsense_Mutation_p.W300*	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	300						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.W300C(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAATCCCTGGACAGGCGGCG	0.547000														104			31		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678439	42678439	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:42678439G>A	uc001zpn.1	+	2	760	c.454G>A	c.(454-456)Gat>Aat	p.D152N	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.D65N|CAPN3_uc010udf.1_Missense_Mutation_p.D65N|CAPN3_uc010udg.1_Missense_Mutation_p.D65N|CAPN3_uc001zpo.1_Missense_Mutation_p.D152N|CAPN3_uc001zpp.1_Missense_Mutation_p.D152N	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	152	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATACCCCATGATCAAAGTTT	0.557000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		132			47		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	T	T	rs66505048		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:38119859C>T	uc003atr.3	+	6	1567	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	TRIOBP_uc003atu.3_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		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)					GAACATCCTGCGCCCAGCGGG	0.582000														173			5		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508003	37508003	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:37508003G>A	uc021ppc.1	+	33	3294	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L	ANKRD30A_uc001iza.1_Silent_p.L1065L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1121						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						TAGCCACACTGAAACACCAAT	0.323000														48			31		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														460			33		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102981495	102981495	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:102981495G>T	uc003hvy.4	+	11	2371	c.2097G>T	c.(2095-2097)gaG>gaT	p.E699D	BANK1_uc003hvx.4_Missense_Mutation_p.E684D|BANK1_uc010ill.3_Missense_Mutation_p.E566D|BANK1_uc003hvz.4_Missense_Mutation_p.E669D	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	699					B cell activation			p.L698V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGCTCTGGAGAAATTTAAAC	0.458000														82			32		6.05902e-23	6.16458e-23	1	1	0
RNASE12	493901	broad.mit.edu	37	14	21058733	21058733	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:21058733G>A	uc001vxt.3	-	0	250	c.150C>T	c.(148-150)atC>atT	p.I50I	RNASE11_uc010ahv.3_5'Flank|RNASE11_uc010ahx.3_5'Flank|RNASE11_uc010ahw.3_5'Flank|RNASE11_uc001vxs.3_5'Flank|AX747992_uc001vxu.1_Non-coding_Transcript	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Homo sapiens ribonuclease, RNase A family, 12 (non-active) (RNASE12), mRNA.	50						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CTCTTTGTATGATCATGTGGT	0.438000														88			37		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633373	3633373	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3633373G>A	uc002cvp.2	-	13	5505	c.4878C>T	c.(4876-4878)tgC>tgT	p.C1626C		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1626	Interaction with MUS81.|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						CGAGGGTCTGGCAGTGAGGCG	0.627000								Direct reversal of damage						102			37		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051152	75051152	+	Missense_Mutation	SNP	G	A	A	rs143013340		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:75051152G>A	uc009xrc.3	-	19	2402	c.2281C>T	c.(2281-2283)Cat>Tat	p.H761Y	TTC18_uc001jty.3_Missense_Mutation_p.H761Y|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.H142Y	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	761							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAGGCCTCATGAAATGCCATT	0.398000														52			29		0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10626840	10626840	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:10626840G>A	uc002czx.3	-	4	620	c.426C>T	c.(424-426)tcC>tcT	p.S142S		NM_001424	NP_001415	P54851	EMP2_HUMAN	Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.	142					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCAGGATGTAGGAGTAGCCGT	0.527000														85			37		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301566	11301566	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:11301566G>A	uc010hdr.3	+	1	1185	c.843G>A	c.(841-843)aaG>aaA	p.K281K	HRH1_uc010hds.3_Silent_p.K281K|HRH1_uc010hdt.3_Silent_p.K281K|HRH1_uc003bwb.4_Silent_p.K281K|HRH1_uc021wtb.1_Silent_p.K281K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AAACCCCCAAGGAGATGAAAT	0.498000														71			26		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200978057	200978057	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:200978057G>A	uc001gvs.2	-	2	604	c.287C>T	c.(286-288)aCc>aTc	p.T96I	KIF21B_uc009wzl.2_Missense_Mutation_p.T96I|KIF21B_uc001gvr.2_Missense_Mutation_p.T96I|KIF21B_uc010ppn.2_Missense_Mutation_p.T96I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	96	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						AGTGCCCATGGTGTACGTCTT	0.627000														117			49		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043504	20043504	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:20043504G>A	uc002dgu.1	-	1	777	c.615C>T	c.(613-615)atC>atT	p.I205I	GPR139_uc010vaw.1_Silent_p.I112I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	205						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTACACAATGATTGAGTTCA	0.507000														72			27		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43664154	43664154	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:43664154C>T	uc021omk.1	+	7	1411	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.T411I|WDR65_uc001ciq.2_Missense_Mutation_p.T422I|WDR65_uc001cip.2_Missense_Mutation_p.T422I	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	422										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)				TTTCACAGCACCCTGGAACTA	0.383000														31			8		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418717	2418717	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:2418717C>T	uc001aji.1	+	6	1287	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PLCH2_uc010nyz.2_Missense_Mutation_p.S127L|PLCH2_uc009vle.1_Missense_Mutation_p.S127L|PLCH2_uc001ajj.1_Missense_Mutation_p.S127L|PLCH2_uc001ajk.1_Missense_Mutation_p.S127L	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	339	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTCATCACCTCGTCCCACAAC	0.602000														39			8		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24210747	24210747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:24210747G>A	uc011ajc.1	+	2	711	c.221G>A	c.(220-222)tGg>tAg	p.W74*	SLC2A11_uc002zyl.1_Nonsense_Mutation_p.W74*|SLC2A11_uc002zym.4_Nonsense_Mutation_p.W74*|SLC2A11_uc002zyn.4_Nonsense_Mutation_p.W67*|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Nonsense_Mutation_p.W61*|SLC2A11_uc002zyp.4_Nonsense_Mutation_p.W70*			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	67						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGCTTATGTGGTCCCTCATC	0.557000														99			26		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854740	4854740	+	Missense_Mutation	SNP	G	A	A	rs71579265	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:4854740G>A	uc001qne.1	+	4	1098	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	336						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTGCCGCTACGATGCACTGCC	0.483000														46			16		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268617	28268617	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:28268617C>T	uc003nky.3	+	6	1406	c.986C>T	c.(985-987)tCa>tTa	p.S329L	PGBD1_uc003nkz.3_Missense_Mutation_p.S329L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	329					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						ATGCACATCTCATCCCTGGAA	0.483000														55			25		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202270324	202270324	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:202270324G>T	uc001gxu.3	+	8	890	c.890G>T	c.(889-891)gGa>gTa	p.G297V	LGR6_uc001gxv.3_Missense_Mutation_p.G245V|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.G158V|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	297						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						CAGTTTGTGGGAAGATCGGCA	0.483000														23			8		0.000442599	0.000446679	1	1	0
GJA1	2697	broad.mit.edu	37	6	121769136	121769136	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:121769136G>A	uc003pyr.3	+	1	1393	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	GJA1_uc011ebo.1_Silent_p.E282E|GJA1_uc011ebp.1_Silent_p.E169E|GJA1_uc021zel.1_Silent_p.E381E	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	381					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATGACCTGGAGATCTAGATAC	0.498000														66			30		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116418699	116418699	+	Silent	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:116418699T>C	uc001tvw.3	-	22	5275	c.5220A>G	c.(5218-5220)caA>caG	p.Q1740Q		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1740					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTAGAAAACTTGCTCATCCT	0.408000														36			16		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597349	74597349	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:74597349G>A	uc002skx.3	-	11	1569	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	DCTN1_uc002skv.3_Silent_p.S283S|DCTN1_uc002sku.3_Silent_p.S283S|DCTN1_uc002skw.2_Silent_p.S410S|DCTN1_uc010ffd.3_Silent_p.S397S|DCTN1_uc002sky.3_Silent_p.S380S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	417					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTCTGCCTGGCTTAGCTCCT	0.567000														63			34		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032265	10032265	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:10032265G>A	uc010uym.2	-	3	868	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GRIN2A_uc002czo.4_Silent_p.F186F|GRIN2A_uc010uyn.2_Silent_p.F29F|GRIN2A_uc002czr.4_Silent_p.F186F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	186					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)	TGGTCTTGACGAAGCTGATGA	0.502000														104			30		0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48732560	48732560	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:48732560G>A	uc003cuq.3	-	1	626	c.165C>T	c.(163-165)ctC>ctT	p.L55L	IP6K2_uc003cup.3_Silent_p.L55L|IP6K2_uc011bbs.2_Non-coding_Transcript|IP6K2_uc003cut.3_Non-coding_Transcript|IP6K2_uc003cus.3_Silent_p.L55L|IP6K2_uc003cur.3_Silent_p.L55L|IP6K2_uc011bbv.2_Silent_p.L113L|IP6K2_uc011bbu.2_Silent_p.L109L|IP6K2_uc011bbr.2_Silent_p.L55L|IP6K2_uc011bbt.2_Silent_p.L110L|IP6K2_uc011bbq.2_Silent_p.L55L	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	55					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCTCAGCAGGGAGGGTCTCGT	0.582000														100			36		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872863	55872863	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:55872863C>T	uc010riy.2	+	0	345	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	115					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)					GTTACCTTCTCTCCTCAATGG	0.473000										HNSCC(53;0.14)				275			115		0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150484813	150484813	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:150484813G>A	uc003ltl.2	-	23	2060	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	ANXA6_uc011dcp.2_Missense_Mutation_p.S579F|ANXA6_uc003lto.2_Missense_Mutation_p.S198F	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	611						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCTTCATGGATTTGTAAAG	0.468000														20			24		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41133218	41133218	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41133218T>A	uc002ooh.1	+	31	4522	c.4522T>A	c.(4522-4524)Ttc>Atc	p.F1508I	LTBP4_uc002oog.1_Missense_Mutation_p.F1471I|LTBP4_uc002ooi.1_Missense_Mutation_p.F1441I|LTBP4_uc002ooj.1_Missense_Mutation_p.F382I|LTBP4_uc002ook.1_Missense_Mutation_p.F643I|LTBP4_uc002ool.1_Missense_Mutation_p.F521I|LTBP4_uc010xvp.1_Missense_Mutation_p.F269I	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1509					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCCGCTCCTTCCCAGAGCC	0.652000														7			4		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245401	59245401	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:59245401C>T	uc001nnz.1	+	0	499	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTCCCACTCCCTTTCTGCGG	0.498000														107			43		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10467247	10467247	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:10467247G>A	uc002moc.4	-	17	2992	c.2614C>T	c.(2614-2616)Cac>Tac	p.H872Y	TYK2_uc010dxe.3_Missense_Mutation_p.H687Y	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	872	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGCTCACTGTGGGGCTGCAGC	0.632000														15			15		0	0	1	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9156773	9156773	+	RNA	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrY:9156773C>T	uc004frl.1	-	2		c.224G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		CTTTTCCATCCAAAGACTAGA	0.373000														10			26		0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1987253	1987253	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:1987253C>T	uc002lup.1	-	7	1182	c.1182_splice	c.e7-1	p.R394_splice	BTBD2_uc002luo.1_Splice_Site_p.R73_splice	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	394						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTGAGAACCTGCCGTGGCA	0.617000														18			9		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218307	134218307	+	Silent	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:134218307A>C	uc001lll.4	+	1	332	c.303A>C	c.(301-303)ccA>ccC	p.P101P	PWWP2B_uc009ybe.3_Silent_p.P101P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	101	Pro-rich.							p.P101P(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCCGAGCCACCCCCGCCCC	0.756000														19			7		0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107518	31107518	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31107518C>T	uc003nsl.2	+	5	557	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	PSORS1C1_uc010jsj.2_Missense_Mutation_p.P39S|PSORS1C1_uc003nsn.2_Non-coding_Transcript|PSORS1C2_uc003nso.4_5'Flank	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.	90										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TATCCTGGTTCCCTCTTCCCA	0.562000														73			33		0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737771	24737771	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:24737771G>A	uc001wof.3	-	8	1377	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RABGGTA_uc001wog.3_Missense_Mutation_p.R319C|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	319					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	p.R319C(2)|p.R319R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CAAATGACGCGAAATGTATGT	0.537000														95			30		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14989377	14989377	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:14989377C>T	uc002dcv.3	+	30	3610	c.3544C>T	c.(3544-3546)Cct>Tct	p.P1182S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1182						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.I1181F(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTAGCTCATTCCTTTGCTGCT	0.537000														455			60		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188210940	188210940	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:188210940G>A	uc010frt.3	-	13	1740	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	CALCRL_uc002upv.4_Missense_Mutation_p.L453F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	453						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGTTTTAAGAGAACATTTTCA	0.368000														21			3		0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163591	163591	+	RNA	SNP	G	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:163591G>C	uc010lra.3	-	3		c.542C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGTGACATGCGGATCTTCTTT	0.547000														47			14		0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29185756	29185756	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:29185756G>A	uc001brf.1	+	1	760	c.518G>A	c.(517-519)tGg>tAg	p.W173*		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	173					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	ATCTGTATCTGGGTCCTGGCC	0.607000														50			21		0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74444507	74444507	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:74444507C>T	uc002fct.3	-	9	1338	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	CLEC18B_uc002fcu.3_Missense_Mutation_p.D380N|CLEC18B_uc010vmu.1_3'UTR	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	380	C-type lectin.					extracellular region	sugar binding	p.K379M(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CGGAAGGAGTCCTTGGCGGTC	0.642000														81			7		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115345609	115345609	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:115345609G>C	uc001lai.4	+	11	1533	c.1430G>C	c.(1429-1431)tGc>tCc	p.C477S	HABP2_uc021pyr.1_Missense_Mutation_p.C451S	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	477	Peptidase S1.				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)		AACACTTTGTGCAACTCCCGC	0.522000														27			20		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129905247	129905247	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:129905247G>A	uc003qbr.3	-	12	1813	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	ARHGAP18_uc011ebw.2_Intron	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	575					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CACTCCCTGAGGAACGTCAGC	0.443000														34			19		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641102	156641102	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:156641102C>T	uc001fpq.3	-	3	3011	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	960	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.Q959*(1)		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)					TGAGCCAGTTCTTGGTCCTTC	0.567000														274			98		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207605808	207605808	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:207605808C>T	uc002vbs.3	-	9	1484	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Missense_Mutation_p.D477N	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	477					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTTTCTTCATCAGGGACCAGA	0.343000														31			10		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521124	86521124	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:86521124G>A	uc011kha.2	-	20	3131	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	KIAA1324L_uc003uie.3_Silent_p.I815I|KIAA1324L_uc011kgz.2_Silent_p.I868I|KIAA1324L_uc003uif.2_Silent_p.I734I	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	982						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTCCTTCCATGATAGCACAAC	0.358000														40			20		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122716903	122716903	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:122716903G>A	uc001ucd.3	-	12	1794	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	561					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGAAATCGCAGGGCAGCAATT	0.418000														119			62		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30864855	30864855	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:30864855G>A	uc003nrv.3	+	12	1976	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H	DDR1_uc010jse.3_Missense_Mutation_p.R608H|DDR1_uc003nrq.3_Missense_Mutation_p.R608H|DDR1_uc003nrr.3_Missense_Mutation_p.R645H|DDR1_uc003nrs.3_Missense_Mutation_p.R645H|DDR1_uc003nrt.3_Missense_Mutation_p.R608H|DDR1_uc011dms.2_Missense_Mutation_p.R626H|DDR1_uc003nru.3_Missense_Mutation_p.R608H|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Missense_Mutation_p.R499H|DDR1_uc003nrw.1_Missense_Mutation_p.R380H	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	645	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTTAATGTGCGTAAGGGACAC	0.542000														156			4		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30924654	30924654	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:30924654C>T	uc003xio.4	+	5	1398	c.610C>T	c.(610-612)Cct>Tct	p.P204S		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	204	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAGTAAATTTCCTCTCACTGA	0.388000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					46			17		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161402	2161402	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:2161402G>A	uc002cos.1	-	14	3975	c.3766C>T	c.(3766-3768)Ccg>Tcg	p.P1256S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P1256S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1256	PKD 7.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGCCTCCGGGCCCGACAGC	0.711000														21			21		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139945747	139945747	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:139945747G>A	uc004ckw.2	-	3	516	c.462C>T	c.(460-462)ttC>ttT	p.F154F	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.F154F	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	154						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCACCCCGGAAGTCAAAGG	0.582000														59			21		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852977	2852977	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:2852977C>T	uc002lwo.3	+	3	1052	c.914C>T	c.(913-915)tCa>tTa	p.S305L	ZNF555_uc002lwn.4_Missense_Mutation_p.S304L	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CATATGATTTCACACACTGGA	0.413000														31			24		0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128412543	128412543	+	Splice_Site	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:128412543T>C	uc003vnt.4	-	5	1098	c.1098_splice	c.e5+1		CALU_uc022alg.1_3'UTR|CALU_uc022alh.1_3'UTR|CALU_uc022ali.1_3'UTR|CALU_uc022ald.1_3'UTR|CALU_uc003vns.3_3'UTR|CALU_uc003vnr.3_3'UTR|CALU_uc003vnq.3_3'UTR|CALU_uc022ale.1_3'UTR|CALU_uc022alf.1_3'UTR	NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.						phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGAAACTTACTTAAAAGTAAA	0.373000														29			12		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256530	+	Missense_Mutation	DNP	TG	CT	CT	rs121913254		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:115256529_115256530TG>CT	uc009wgu.3	-	2	435_436	c.181_182CA>AG	c.(181-183)caa>AGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(1229)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGTA	0.460000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)|Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				152			112		0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49075815	49075815	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:49075815G>A	uc002itc.3	-	14	2037	c.1828C>T	c.(1828-1830)Ctt>Ttt	p.L610F	SPAG9_uc002itd.3_Missense_Mutation_p.L600F|SPAG9_uc002itb.3_Missense_Mutation_p.L596F|SPAG9_uc002itf.3_Missense_Mutation_p.L431F|SPAG9_uc002ita.3_Missense_Mutation_p.L453F|SPAG9_uc002ite.3_Missense_Mutation_p.L440F	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	610					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCTTCACTAAGGAAATCAAAG	0.398000														36			45		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:189587118C>T	uc003fry.2	+	8	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	379	Interaction with HIPK2.				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	p.R379C(2)		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)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)				65			15		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551905	100551905	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:100551905G>A	uc003uxl.1	+	0	1156	c.356G>A	c.(355-357)gGa>gAa	p.G119E	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCACTAGGGGAAGTACGTCT	0.428000														644			98		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174597	140174597	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:140174597C>T	uc003lhd.2	+	0	154	c.48C>T	c.(46-48)ctC>ctT	p.L16L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L16L|PCDHAC2_uc011czy.2_Silent_p.L16L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	29					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)			CACGGCTGCTCTCGCTTCTGC	0.582000														35			30		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000														103			7		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1061837	1061837	+	Silent	SNP	G	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:1061837G>C	uc002lqw.4	+	40	5751	c.5520G>C	c.(5518-5520)gtG>gtC	p.V1840V	ABCA7_uc002lqy.3_Silent_p.V293V|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1840	ABC transporter 2.				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)		TTCGCATGGTGACGGGGGACA	0.652000														51			5		0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568488	43568488	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:43568488G>A	uc003bdq.3	-	9	1476	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	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.	472	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)				ACGATGTAGCGGATGTCGAAC	0.572000														95			27		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885700	29885700	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:29885700C>T	uc003afo.3	+	3	2142	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	697	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						AGCAAAGTCCCCTGAGAAGGC	0.567000														132			52		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52847478	52847478	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:52847478G>A	uc011bem.2	-	23	2795	c.2767C>T	c.(2767-2769)Ccc>Tcc	p.P923S	AX746575_uc003dfw.1_5'Flank|ITIH4_uc011bel.2_Missense_Mutation_p.P632S|ITIH4_uc003dfy.3_Missense_Mutation_p.P713S|ITIH4_uc003dfz.3_Missense_Mutation_p.P918S|ITIH4_uc011ben.2_Missense_Mutation_p.P888S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	918					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACTCCCGGGGGCCCCTCCTGG	0.572000														97			49		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433090	179433090	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179433090G>A	uc021vsy.1	-	274	70290	c.70065C>T	c.(70063-70065)atC>atT	p.I23355I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I17050I|TTN_uc021vta.1_Silent_p.I16983I|TTN_uc021vtb.1_Silent_p.I16858I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24282	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAGTTGGTGATTTGGCAGC	0.403000														41			19		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220370991	220370991	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:220370991C>T	uc002vlv.3	+	11	1384	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	GMPPA_uc002vlr.3_Silent_p.L337L	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	337					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CACGTGTGTTCTGCATAGCAT	0.642000														92			40		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328236	126328236	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:126328236C>A	uc003ifj.4	+	2	5509	c.5509C>A	c.(5509-5511)Cat>Aat	p.H1837N	FAT4_uc011cgp.2_Missense_Mutation_p.H135N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1837	Cadherin 17.				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						TGTGAATGACCATACACCCAA	0.448000														126			56		3.56336e-21	3.62123e-21	1	1	0
ACPL2	92370	broad.mit.edu	37	3	141011144	141011144	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:141011144G>A	uc003etu.3	+	7	839	c.540G>A	c.(538-540)ctG>ctA	p.L180L	ACPL2_uc003etv.3_Silent_p.L180L|ACPL2_uc011bna.2_Silent_p.L142L|ACPL2_uc011bnb.2_Silent_p.L163L	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	180						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GTCAGCTGCTGAGGGATATCT	0.478000														61			33		0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131095783	131095783	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:131095783C>T	uc004bur.4	+	6	1004	c.657C>T	c.(655-657)atC>atT	p.I219I	COQ4_uc010mxy.3_Silent_p.I195I	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	219					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CGGAGTTGATCCCATGGGCCG	0.617000														68			25		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282568	59282568	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:59282568C>T	uc010rkv.2	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATGTACTTCCTGCTCCGCA	0.433000														199			69		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53613139	53613139	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:53613139G>A	uc002qax.3	-	6	652	c.303C>T	c.(301-303)atC>atT	p.I101I	ZNF415_uc010yds.2_Silent_p.I53I|ZNF415_uc010ydt.2_Silent_p.I53I|ZNF415_uc002qau.3_Silent_p.I40I|ZNF415_uc002qav.3_Silent_p.I65I|ZNF415_uc002qaw.3_Silent_p.I53I|ZNF415_uc002qay.3_Silent_p.I40I|ZNF415_uc002qaz.3_Silent_p.I101I|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTAGTTCCTTGATTACACAGT	0.343000														53			50		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56223308	56223308	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:56223308A>C	uc002qly.3	-	7	2729	c.2701T>G	c.(2701-2703)Tgc>Ggc	p.C901G		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	901						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGTCGCAGCAGGCACGGGTG	0.562000														43			34		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316190	125316190	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:125316190C>T	uc011lyx.2	+	0	742	c.742C>T	c.(742-744)Cct>Tct	p.P248S		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CATCTCATCTCCTGGAGGGAG	0.502000														162			38		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43703661	43703661	+	Silent	SNP	T	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:43703661T>A	uc002xnb.3	+	10	1398	c.1308T>A	c.(1306-1308)ctT>ctA	p.L436L	STK4_uc010ggx.3_3'UTR|STK4_uc010ggy.3_Silent_p.L381L	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	436	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TCTTCTAGCTTAAGAGTTGGA	0.537000														31			14		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45244825	45244825	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:45244825C>T	uc003bfd.3	+	14	1669	c.1392C>T	c.(1390-1392)aaC>aaT	p.N464N	PRR5-ARHGAP8_uc011aqi.2_Silent_p.N376N|PRR5-ARHGAP8_uc011aqj.2_Silent_p.N290N|PRR5-ARHGAP8_uc003bfi.3_Silent_p.N254N|PRR5-ARHGAP8_uc010gzv.3_Silent_p.N254N|PRR5-ARHGAP8_uc003bfj.3_Silent_p.N285N|PRR5-ARHGAP8_uc003bfk.3_Silent_p.N254N|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						AGCCCGTGAACTTTGACGACT	0.617000														136			56		0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049681	63049681	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:63049681C>T	uc002jfc.3	-	1	658	c.449G>A	c.(448-450)aGa>aAa	p.R150K	GNA13_uc010wqh.2_Missense_Mutation_p.R55K	NM_006572	NP_006563	Q14344	GNA13_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA.	150					Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CCATAATGCTCTTATAGCAGG	0.443000														45			58		0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49316733	49316733	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:49316733G>A	uc002pkv.1	-	7	885	c.619C>T	c.(619-621)Cga>Tga	p.R207*	BCAT2_uc002pkq.4_5'Flank|BCAT2_uc002pks.3_5'Flank|BCAT2_uc002pkr.3_5'Flank|BCAT2_uc002pkt.3_5'Flank|BCAT2_uc010emh.2_5'Flank|BCAT2_uc010emi.2_5'Flank|BCAT2_uc010emj.2_5'Flank|HSD17B14_uc010emk.1_Intron	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	207					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)		ATGCCCTCTCGGATTGTGGCC	0.612000														22			20		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486937	125486937	+	Silent	SNP	C	T	T	rs140014211		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:125486937C>T	uc004bmu.1	+	0	669	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I223I(4)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGCAAATCATCGTCACTGTGC	0.542000														400			60		0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:72634141G>A	uc010iif.3	-	3	290	c.195C>T	c.(193-195)gtC>gtT	p.V65V	GC_uc003hge.3_Silent_p.V46V|GC_uc021xpb.1_Silent_p.V46V	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000														47			10		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657874	143657874	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:143657874G>A	uc003wds.1	+	0	855	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	271					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)					TGTCCTTCAGGAGAAGTTGTT	0.493000														46			30		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121538	38121538	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:38121538C>T	uc003atr.3	+	6	3246	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	TRIOBP_uc003atu.3_Missense_Mutation_p.S820F|TRIOBP_uc003atq.1_Missense_Mutation_p.S992F|TRIOBP_uc003ats.1_Missense_Mutation_p.S820F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	992					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)					TCCCGAACTTCCTCACCTGTG	0.647000														230			81		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715199	76715199	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:76715199C>T	uc003pik.1	-	9	1070	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	314	SEA 1.				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)				CTTTTTGCTTCTGCACTGTGT	0.463000														52			31		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196738347	196738347	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:196738347C>T	uc002utj.4	-	38	6459	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2120	AAA 3 (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						ATGGATTTATCACTAAACTCA	0.274000														41			18		0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292807	102292807	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:102292807C>A	uc010usj.2	+	3	454	c.395C>A	c.(394-396)aCt>aAt	p.T132N	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.T132N(1)									CCAACCTGCACTCGCGTGGGA	0.607000														50			3		0.115264	0.115396	1	1	0
PODXL2	50512	broad.mit.edu	37	3	127379295	127379295	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:127379295C>T	uc003ejq.2	+	2	448	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	142					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCTGCCAAACCTCCCCTCTCC	0.498000														43			29		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67501979	67501979	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:67501979C>T	uc002jij.3	+	1	363	c.75C>T	c.(73-75)acC>acT	p.T25T	MAP2K6_uc002jii.3_Silent_p.T25T|MAP2K6_uc002jik.3_Silent_p.T55T	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	25					DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AACCTCAGACCAGTTCCACGT	0.418000														42			70		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693092	69693092	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:69693092G>A	uc003hee.3	+	4	1158	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D	UGT2B10_uc011cam.2_Missense_Mutation_p.G294D	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	378					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						GGAGCCAATGGCATCTATGAG	0.403000														111			45		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615002	158615002	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:158615002G>A	uc001fst.1	-	28	4369	c.4170C>T	c.(4168-4170)atC>atT	p.I1390I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1390					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)					ACTGGTCTAGGATCTTCTTGC	0.438000														110			54		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132472256	132472256	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:132472256C>T	uc001ujn.3	+	6	2382	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	EP400_uc021rgq.1_Nonsense_Mutation_p.Q743*|EP400_uc001ujm.3_Nonsense_Mutation_p.Q744*|EP400_uc001ujj.2_Nonsense_Mutation_p.Q707*|EP400_uc001ujk.3_Nonsense_Mutation_p.Q780*	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	780					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		ACAGGAGAACCAGGTGCATCA	0.567000														60			13		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776772	5776772	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:5776772G>A	uc001mbu.3	+	0	850	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G267E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCGCTTTGGGGAACACATAAT	0.463000														101			53		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289219	62289219	+	Missense_Mutation	SNP	G	A	A	rs143211270	by1000genomes	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:62289219G>A	uc003xuh.3	+	2	835	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E171K(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTCCTAATCGAAGATCCGGA	0.438000														90			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578785	179578785	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179578785C>T	uc021vsy.1	-	88	23093	c.22868G>A	c.(22867-22869)gGa>gAa	p.G7623E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4284E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8550	Ig-like 58.						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)			TAGCTCTTTTCCATCCTTAAA	0.433000														26			13		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198700853	198700853	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:198700853C>T	uc001gur.1	+	17	2146	c.1966C>T	c.(1966-1968)Cag>Tag	p.Q656*	PTPRC_uc001gut.1_Nonsense_Mutation_p.Q495*|PTPRC_uc009wzf.1_Nonsense_Mutation_p.Q544*|PTPRC_uc021pgy.1_Nonsense_Mutation_p.Q610*|PTPRC_uc010ppg.1_Nonsense_Mutation_p.Q592*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	656	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q656*(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGCTGAATTTCAGGTGTGTGT	0.343000														71			19		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150580	117150580	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:117150580G>A	uc001egq.1	-	4	1911	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	IGSF3_uc001egr.1_Silent_p.I402I|IGSF3_uc001egs.1_Silent_p.I75I	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	402	Ig-like C2-type 4.					integral to membrane		p.I402I(3)|p.P401P(1)|p.P401H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGAGGACTATGATGGGGATGT	0.502000														196			6		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55866937	55866937	+	Missense_Mutation	SNP	G	A	A	rs116258771	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:55866937G>A	uc002eim.3	-	0	139	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	CES1_uc002eil.3_Missense_Mutation_p.L11F|CES1_uc002ein.3_Missense_Mutation_p.L11F	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	11					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)	GAAGCAGAGAGAGTGGCCAGG	0.582000														72			21		0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94751101	94751101	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:94751101T>C	uc003hta.1	+	0	1024	c.1024T>C	c.(1024-1026)Tcc>Ccc	p.S342P		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	342					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGGGGAATTTTCCCCCCATTC	0.522000														136			48		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100530031	100530031	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:100530031G>A	uc011cej.2	+	11	1760	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	MTTP_uc003hvc.4_Missense_Mutation_p.D556N	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	556	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATCCTACATGGACGTCAAGAA	0.418000														103			48		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27014416	27014416	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:27014416C>T	uc010crt.3	+	23	3125	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	SUPT6H_uc002hby.3_Missense_Mutation_p.A978V|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	978					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CGTGCCATTGCCCACCCTTAC	0.522000														24			25		0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167365645	167365645	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:167365645G>A	uc001gec.3	+	10	1280	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.E370E|POU2F1_uc010plh.2_Silent_p.E307E|POU2F1_uc001ged.3_Silent_p.E345E|POU2F1_uc001gef.3_Silent_p.E359E|POU2F1_uc001geg.3_Silent_p.E245E|POU2F1_uc009wvg.1_5'Flank	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	347	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACTTTTAGAGAAGTGGCTAA	0.358000														104			38		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920686	51920686	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:51920686C>T	uc002pwo.3	-	1	293	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	SIGLEC10_uc002pwp.3_Missense_Mutation_p.R24Q|SIGLEC10_uc021uyl.1_Missense_Mutation_p.R24Q|SIGLEC10_uc002pwq.3_Missense_Mutation_p.R24Q|SIGLEC10_uc010ycz.2_Missense_Mutation_p.R24Q|SIGLEC10_uc002pws.2_Missense_Mutation_p.R24Q|SIGLEC10_uc002pwr.3_Missense_Mutation_p.R24Q|SIGLEC10_uc010ycy.2_Missense_Mutation_p.R24Q|SIGLEC10_uc010eow.3_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	24	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTCCTGCACTCGTATCCAGAA	0.617000														96			81		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205550024	205550024	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:205550024C>T	uc001hcv.4	+	2	751	c.665C>T	c.(664-666)gCc>gTc	p.A222V	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.A167V	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	222					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)			GTGTCCTATGCCTTCTGGATC	0.617000														29			14		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915545	48915545	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:48915545C>T	uc002rwu.4	-	10	1461	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	464					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E463G(1)		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)	GGTGTGCCATCTTTCTAGAGT	0.463000														70			26		0	0	1	0	0
PSKH1	5681	broad.mit.edu	37	16	67942837	67942837	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:67942837G>A	uc002euv.3	+	1	355	c.185G>A	c.(184-186)tGc>tAc	p.C62Y	PSKH1_uc010cet.2_Missense_Mutation_p.C62Y	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	62						Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GCACACCCCTGCCCCGGTCCC	0.597000														47			19		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284446	130284446	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:130284446C>T	uc001qgg.4	-	4	1904	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	516	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCACTTCCTCCTCAGGTAGA	0.627000														74			25		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5729895	5729895	+	Silent	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:5729895T>C	uc002mda.3	+	3	277	c.216T>C	c.(214-216)ttT>ttC	p.F72F	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	72						integral to membrane											AACAAGTTTTTTTCACAATGG	0.318000														38			24		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262184	15262184	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:15262184C>T	uc001rcs.3	-	3	600	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	RERG_uc001rct.3_Missense_Mutation_p.G154R|RERG_uc010shu.2_Missense_Mutation_p.G135R	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	154					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTGATGTTCCCTTCTCCAGTG	0.542000														113			46		0	0	1	0	0
EGFL7	51162	broad.mit.edu	37	9	139563056	139563056	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:139563056C>T	uc004cid.3	+	3	1039	c.128C>T	c.(127-129)tCg>tTg	p.S43L	EGFL7_uc010nbp.3_Missense_Mutation_p.S43L|EGFL7_uc004cie.3_Missense_Mutation_p.S43L|EGFL7_uc004cif.3_Missense_Mutation_p.S43L|EGFL7_uc004cih.3_Missense_Mutation_p.S43L|MIR126_uc022bps.1_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.	43	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GTCTCCGAGTCGTTCGTGCAG	0.682000														152			75		0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16704236	16704236	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:16704236G>A	uc010shz.2	-	5	649	c.424C>T	c.(424-426)Cta>Tta	p.L142L	LMO3_uc001rdj.2_Silent_p.L131L|LMO3_uc010shy.2_Silent_p.L138L|LMO3_uc001rdk.2_Silent_p.L120L|LMO3_uc001rdl.2_Silent_p.L120L|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Silent_p.L120L|LMO3_uc001rdm.2_Silent_p.L120L|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TTATTCTTTAGGAAAAATTTG	0.348000														55			20		0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778645	111778645	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:111778645G>A	uc001eam.3	+	7	677	c.606_splice	c.e7-1	p.K202_splice	CHI3L2_uc001ean.3_Splice_Site_p.K192_splice|CHI3L2_uc001eao.3_Splice_Site_p.K123_splice	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	202					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TGGCACTTTAGAGATCTGGAT	0.458000														230			72		0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877596	38877596	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:38877596C>T	uc002oij.1	-	2	441	c.306G>A	c.(304-306)ggG>ggA	p.G102G	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.G19G	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	102	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAGCAGAGTCCCCGCGGGGG	0.721000														15			6		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1094818	1094818	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:1094818C>T	uc001lsx.1	+	32	5921	c.5894C>T	c.(5893-5895)tCt>tTt	p.S1965F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	2028						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)	TACCCTTCCTCTGTGCTTATC	0.612000														203			79		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834724	61834724	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:61834724C>T	uc001jky.3	-	36	6253	c.5915G>A	c.(5914-5916)gGa>gAa	p.G1972E	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.	1972					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						TTTGGGTGATCCTTTATTATC	0.373000														25			12		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24979739	24979739	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:24979739G>A	uc002dnb.3	-	5	487	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	ARHGAP17_uc002dnc.3_Missense_Mutation_p.P132S|ARHGAP17_uc010vcf.2_5'UTR|ARHGAP17_uc002dng.1_Missense_Mutation_p.P132S	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	132	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGATGTTGGGAATCTCCACC	0.418000														56			19		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19471648	19471648	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:19471648G>A	uc002dgc.4	+	5	1889	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	TMC5_uc010vaq.2_Silent_p.R380R|TMC5_uc002dgb.4_Silent_p.R380R|TMC5_uc010var.2_Silent_p.R380R|TMC5_uc002dgd.1_Silent_p.R134R|TMC5_uc002dge.4_Silent_p.R134R|TMC5_uc002dgf.4_Silent_p.R42R|TMC5_uc002dgg.4_Silent_p.R21R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	380						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						AAGAGAAAAGGAACCTTAGGT	0.398000														41			13		0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577573	2577573	+	Silent	SNP	G	A	A	rs142773629	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:2577573G>A	uc010uwc.2	+	3	469	c.372G>A	c.(370-372)caG>caA	p.Q124Q	AMDHD2_uc002cqp.3_Silent_p.Q124Q|AMDHD2_uc002cqq.3_Silent_p.Q124Q|AMDHD2_uc010uwd.2_5'UTR	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	124					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TTGTTCCTCAGATCCCTGTGA	0.647000														25			5		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811429	23811429	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:23811429C>T	uc001ywh.4	+	0	976	c.500C>T	c.(499-501)tCc>tTc	p.S167F	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S167F	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	167						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCTCCCTTTCCTTGCCTGTG	0.637000														33			13		0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42043032	42043032	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:42043032C>T	uc003bao.1	+	6	976	c.906C>T	c.(904-906)acC>acT	p.T302T	XRCC6_uc003bap.1_Silent_p.T261T|XRCC6_uc011apc.1_Silent_p.T252T|XRCC6_uc003bar.2_Silent_p.T302T	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	302	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGACCCGGACCTTTAATACAA	0.458000								Non-homologous end-joining						219			65		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512846	70512846	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:70512846A>T	uc011caq.2	-	1	633	c.517T>A	c.(517-519)Ttt>Att	p.F173I	UGT2A1_uc010ihu.3_Missense_Mutation_p.F173I|UGT2A1_uc003hem.4_Missense_Mutation_p.F173I|UGT2A1_uc010iht.3_Missense_Mutation_p.F173I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	173					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCTGGAGAAAACCTCAAGGAG	0.418000														59			31		0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33451239	33451240	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:33451239_33451240GG>AA	uc002xay.3	-	1	324_325	c.281_282CC>TT	c.(280-282)tcc>tTT	p.S94F	GGT7_uc002xaz.1_Missense_Mutation_p.S111F|GGT7_uc002xba.1_Missense_Mutation_p.S94F	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	94					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCGCTGCGGCGGAGAACGGGTC	0.673000														35			18		0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19609482	19609482	+	Silent	SNP	C	T	T	rs147825029		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:19609482C>T	uc010xqt.2	+	7	1467	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	GATAD2A_uc010xqu.2_Silent_p.I13I|GATAD2A_uc010xqv.2_Silent_p.I404I|GATAD2A_uc010xqw.2_Silent_p.I212I	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	385					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ACGAGTTCATCTACCTGGTCG	0.632000														28			22		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55953829	55953829	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:55953829C>T	uc003has.3	-	26	3909	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K	KDR_uc003hat.1_Missense_Mutation_p.E1203K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1203					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)	TCCTCCTCCTCCATACAGGAA	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				58			23		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922615	37922615	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:37922615G>A	uc002hsu.3	-	7	1020	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	IKZF3_uc002htd.3_Silent_p.L286L|IKZF3_uc010cwd.3_Silent_p.L177L|IKZF3_uc002hsv.3_Silent_p.L247L|IKZF3_uc010cwe.3_Silent_p.L186L|IKZF3_uc010cwf.3_Silent_p.L138L|IKZF3_uc010cwg.3_Silent_p.L99L|IKZF3_uc002hsw.3_Silent_p.L281L|IKZF3_uc002hsx.3_Silent_p.L264L|IKZF3_uc002hsy.3_Silent_p.L281L|IKZF3_uc002hsz.3_Silent_p.L225L|IKZF3_uc002hta.3_Silent_p.L242L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.L233L|IKZF3_uc002htc.3_Silent_p.L73L|IKZF3_uc010wel.2_Silent_p.L73L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	320					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)			AAGGGGCGCAGGGCTTCGGCG	0.532000														55			39		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78308994	78308994	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:78308994C>T	uc002bcy.4	-	7	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	TBC1D2B_uc010bla.3_Missense_Mutation_p.D557N|TBC1D2B_uc002bda.3_Missense_Mutation_p.D9N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	557						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGCCCCTGGTCTTCTGAGCAC	0.507000														17			13		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175322	117175322	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:117175322C>T	uc003vjd.3	+	5	732	c.600C>T	c.(598-600)ttC>ttT	p.F200F	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.	200	ABC transmembrane type-1 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)	TGGCACATTTCGTGTGGATCG	0.453000									Cystic Fibrosis					185			80		0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6760498	6760498	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:6760498C>T	uc001qpw.4	-	6	743	c.702G>A	c.(700-702)cgG>cgA	p.R234R	ING4_uc001qpy.4_Silent_p.R230R|ING4_uc001qpx.4_Silent_p.R231R|ING4_uc009zes.3_3'UTR|ING4_uc009zet.3_Silent_p.R210R|ING4_uc009zeu.3_Non-coding_Transcript|ING4_uc009zev.3_Non-coding_Transcript|ING4_uc001qpv.4_Silent_p.R233R	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA.	234					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	p.G234R(1)		central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						ACCATTTCCCCCGAGGCTTGG	0.527000														82			23		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34243604	34243604	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:34243604C>T	uc001wru.3	+	7	978	c.914C>T	c.(913-915)cCc>cTc	p.P305L	NPAS3_uc001wrs.3_Missense_Mutation_p.P292L|NPAS3_uc001wrv.3_Missense_Mutation_p.P275L|NPAS3_uc001wrt.3_Missense_Mutation_p.P273L	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.V305fs*17(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGGACCGTCCCCAGCCAAATC	0.502000														92			30		0	0	1	0	0
DUSP19	142679	broad.mit.edu	37	2	183960311	183960311	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:183960311C>T	uc002upd.3	+	3	954	c.579C>T	c.(577-579)ttC>ttT	p.F193F	DUSP19_uc010frp.3_Silent_p.F142F|DUSP19_uc010zfr.2_Non-coding_Transcript|DUSP19_uc002upe.3_3'UTR	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA.	193	Tyrosine-protein phosphatase.				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	p.F193L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						ATTCTGGCTTCATGGAGCAGC	0.393000														94			33		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:13931251C>T	uc003jfd.2	-	1	202	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	54	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E54K(4)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCACTTCGGTTTTGTTC	0.488000									Kartagener syndrome					76			31		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75147141	75147141	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:75147141G>A	uc011cbk.2	+	7	833	c.806_splice	c.e7-1	p.G269_splice	MTHFD2L_uc003hhu.3_Splice_Site|BC016361_uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	211					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TTTGTTTTCAGGTATTCCAAA	0.388000														94			38		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884601	48884601	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:48884601G>A	uc001rrr.3	+	5	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	59										endometrium(1)|large_intestine(4)	5						TCAGCTGCAGGAAGATGCTCG	0.448000														128			51		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259241	89259241	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:89259241G>A	uc003dqy.3	+	2	610	c.385G>A	c.(385-387)Gat>Aat	p.D129N	EPHA3_uc003dqx.1_Missense_Mutation_p.D129N|EPHA3_uc021xbf.1_Missense_Mutation_p.D129N	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	129						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)		GGAGTCTGATGATGATCATGG	0.418000										TSP Lung(6;0.00050)				122			31		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865003	10865003	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:10865003C>T	uc003bvz.3	+	3	583	c.549C>T	c.(547-549)ttC>ttT	p.F183F	SLC6A11_uc003bvy.1_Silent_p.F183F	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	183					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GTGTGGAGTTCCAGAAACTGA	0.433000														42			14		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040036	41040036	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41040036G>A	uc002ony.3	+	19	4231	c.4145G>A	c.(4144-4146)cGg>cAg	p.R1382Q	SPTBN4_uc002onx.3_Missense_Mutation_p.R1382Q|SPTBN4_uc002onz.3_Missense_Mutation_p.R1382Q|SPTBN4_uc010egx.3_Missense_Mutation_p.R125Q|SPTBN4_uc010egy.1_Missense_Mutation_p.R58Q|SPTBN4_uc002ooa.3_Missense_Mutation_p.R58Q|SPTBN4_uc010egz.1_Missense_Mutation_p.R58Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1382					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)			GCCTCCGTGCGGAAGAAGCTG	0.632000														33			9		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119200	3119200	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:3119200G>A	uc002ctq.3	+	5	644	c.549G>A	c.(547-549)ctG>ctA	p.L183L	IL32_uc002ctn.3_Silent_p.L137L|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Silent_p.L183L|IL32_uc010uwp.2_Silent_p.L117L|IL32_uc010btb.3_Silent_p.L127L|IL32_uc002ctl.3_Silent_p.L137L|IL32_uc002ctm.3_Silent_p.L137L|IL32_uc002ctp.3_Silent_p.L117L|IL32_uc002ctr.3_Silent_p.L117L|IL32_uc002ctt.3_Silent_p.L137L|IL32_uc010uwr.2_Silent_p.L97L|IL32_uc002ctu.3_Silent_p.L128L|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	183					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.L137L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGGTGGCCCTGGTCCATGCAG	0.592000														88			16		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317422	1317422	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:1317422G>A	uc004cpk.2	-	4	645	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CRLF2_uc022brt.1_Missense_Mutation_p.R215W|CRLF2_uc004cpl.2_Missense_Mutation_p.R103W|CRLF2_uc022brs.1_Missense_Mutation_p.R215W	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	215						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCATTACCCCGAATCTCGCCT	0.577000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									145			55		0	0	1	0	0
GGPS1	9453	broad.mit.edu	37	1	235505883	235505883	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:235505883C>T	uc001hwv.3	+	3	783	c.699C>T	c.(697-699)atC>atT	p.I233I	GGPS1_uc001hwx.3_Silent_p.I179I|GGPS1_uc001hww.3_Silent_p.I233I	NM_001037277	NP_001032354	O95749	GGPPS_HUMAN	Homo sapiens geranylgeranyl diphosphate synthase 1 (GGPS1), transcript variant 2, mRNA.	233					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			TGCAGAATATCTTGCGCCAGA	0.368000														60			30		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601503	61601503	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:61601503G>A	uc002jay.3	+	1	160	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	KCNH6_uc002jax.1_Missense_Mutation_p.R27Q|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Missense_Mutation_p.R27Q|KCNH6_uc002jaz.1_Missense_Mutation_p.R27Q	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	27					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)	ACCCCAGGTCGGAAGTTCCTG	0.557000														136			223		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70894058	70894058	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:70894058G>A	uc002ezr.3	-	70	12190	c.12039C>T	c.(12037-12039)atC>atT	p.I4013I	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.	4014										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)				TTTCTTCAGAGATCCAGCAGA	0.488000														49			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437931	179437931	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179437931G>A	uc021vsy.1	-	274	65449	c.65224C>T	c.(65224-65226)Cct>Tct	p.P21742S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P15437S|TTN_uc021vta.1_Missense_Mutation_p.P15370S|TTN_uc021vtb.1_Missense_Mutation_p.P15245S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22669	Ig-like 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A21741V(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)			GGACTGGTAGGACTTGGTGCA	0.423000														83			36		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324827	103324827	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:103324827C>T	uc002tca.3	+	11	2460	c.2318C>T	c.(2317-2319)tCt>tTt	p.S773F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	773						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						AAAGACCAGTCTGGCTCAGAG	0.612000														141			54		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732438	152732438	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:152732438C>T	uc001fal.1	+	1	432	c.374C>T	c.(373-375)tCa>tTa	p.S125L	KPRP_uc021ozf.1_Missense_Mutation_p.S125L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	125	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCGAAGCGTCACAACCTGTT	0.498000														288			97		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603347	13603347	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:13603347G>A	uc003gmz.1	-	9	5294	c.5177C>T	c.(5176-5178)aCt>aTt	p.T1726I	BOD1L1_uc010idr.1_Missense_Mutation_p.T1063I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1726							DNA binding										ACATGTCACAGTGCCCTCTGT	0.502000														109			43		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545252	82545252	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:82545252T>A	uc003uhx.2	-	6	12339	c.12050A>T	c.(12049-12051)gAa>gTa	p.E4017V	PCLO_uc003uhv.2_Missense_Mutation_p.E4017V|PCLO_uc010lec.3_Missense_Mutation_p.E982V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3948					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						GCTACTTCTTTCCTCCAAACC	0.388000														164			72		0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151015839	151015839	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151015839C>T	uc001ewl.2	+	5	821	c.648C>T	c.(646-648)atC>atT	p.I216I	BNIPL_uc009wmi.2_Silent_p.I134I|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	216	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCTGTCATCCTTTTTGCTT	0.443000														239			107		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187171498	187171498	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:187171498C>T	uc003iyy.3	+	6	771	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	KLKB1_uc011clc.2_Silent_p.I21I|KLKB1_uc011cld.2_Missense_Mutation_p.H196Y	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	234	Apple 3.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGCACCTATCACCCCAACTG	0.458000														118			39		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48387816	48387816	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:48387816G>A	uc001rqu.3	-	12	1012	c.831C>T	c.(829-831)ttC>ttT	p.F277F	COL2A1_uc001rqv.3_Silent_p.F208F	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	277	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTTCCTGGGAAACCACGAG	0.542000														211			83		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820625	26820625	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:26820625G>A	uc010wan.2	+	6	1129	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	SLC13A2_uc010wal.1_Silent_p.Q262Q|SLC13A2_uc010wam.2_Silent_p.Q261Q|SLC13A2_uc002hbh.3_Silent_p.Q305Q|SLC13A2_uc010wao.2_Silent_p.Q262Q|SLC13A2_uc002hbi.3_Silent_p.Q234Q	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	305						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAAAGATGCAGGAGCAACAGC	0.607000														15			13		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48356756	48356756	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:48356756C>T	uc003toq.2	+	26	9886	c.9862C>T	c.(9862-9864)Ccg>Tcg	p.P3288S	ABCA13_uc010kys.1_Missense_Mutation_p.P362S|ABCA13_uc003tos.1_Missense_Mutation_p.P114S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3288					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAACAGCACCGTTTTGCTT	0.363000														21			6		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942720	144942720	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:144942720C>T	uc003zaa.1	-	0	4715	c.4702G>A	c.(4702-4704)Gag>Aag	p.E1568K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1568						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)			TTGCCTCCCTCCAGGGACCGC	0.642000														17			6		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832859	130832859	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:130832859G>A	uc010fmh.2	-	16	2586	c.2186C>T	c.(2185-2187)gCt>gTt	p.A729V		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	729	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGGAAGACAGCCCGGGGGGC	0.602000														68			16		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3305562	3305562	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:3305562C>T	uc002wii.2	-	13	1293	c.1242G>A	c.(1240-1242)ttG>ttA	p.L414L	C20orf194_uc002wij.3_Silent_p.L153L|C20orf194_uc002wik.2_Silent_p.L88L|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	414										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TAAACGGAATCAACTCAAAGG	0.373000														121			38		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:241262011G>A	uc001hyv.2	-	2	460	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(3)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000														37			7		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808226	18808226	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:18808226C>T	uc001bax.3	+	0	803	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	KLHDC7A_uc009vpg.3_Nonsense_Mutation_p.Q33*	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	251						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)		GACCCTGCATCAGCAGGAGGG	0.602000														75			82		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129275238	129275239	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:129275238_129275239GG>AA	uc003emx.2	-	35	5794_5795	c.5694_5695CC>TT	c.(5692-5697)gcccgg>gcTTgg	p.R1899W	PLXND1_uc003emw.2_Missense_Mutation_p.R55W|PLXND1_uc011blb.1_Missense_Mutation_p.R568W	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1899					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGTGTCCTCCGGGCCGTGGGGT	0.614000														133			43		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464088	50464088	+	Missense_Mutation	SNP	C	T	T	rs143146438		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:50464088C>T	uc010ybh.2	-	1	272	c.181G>A	c.(181-183)Gat>Aat	p.D61N	SIGLEC11_uc010ybi.2_Missense_Mutation_p.D61N	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	61	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCCAGCCATCCCGGGGGTAG	0.582000														93			23		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	993963	993963	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:993963C>T	uc001lst.2	+	12	1976	c.1763C>T	c.(1762-1764)aCc>aTc	p.T588I	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.T587I|AP2A2_uc009ycq.1_Missense_Mutation_p.T178I	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	587					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGCTCAGCACCGTGGCCAGC	0.662000														30			16		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76922365	76922365	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:76922365C>T	uc001oyb.2	+	44	6492	c.6220C>T	c.(6220-6222)Cct>Tct	p.P2074S	MYO7A_uc001oyc.2_Missense_Mutation_p.P2036S|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2074	FERM 2.				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			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						GCAGGTCTCACCTGATGACTG	0.647000														11			6		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753866	49753866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:49753866C>T	uc003ozu.3	-	0	1188	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	345					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)					CAAAGGCATCCCATTCAAATA	0.478000														152			45		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128002	83128002	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrX:83128002G>A	uc004eei.1	+	3	307	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CYLC1_uc004eeh.1_Missense_Mutation_p.E95K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	96					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGCTGCCAGGGAACAGACTCC	0.373000														10			13		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228939	21228939	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:21228939G>A	uc002red.3	-	25	10929	c.10801C>T	c.(10801-10803)Cag>Tag	p.Q3601*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3601					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)	GCATGGACCTGAACAAGAGCT	0.488000														67			21		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466461	74466461	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:74466461C>T	uc002sko.1	-	16	2321	c.2319_splice	c.e16+1	p.K773_splice	SLC4A5_uc002skl.3_Splice_Site|SLC4A5_uc002skn.3_Splice_Site_p.K773_splice|SLC4A5_uc010ffc.1_Splice_Site_p.K773_splice|SLC4A5_uc002skp.1_Splice_Site_p.K709_splice|SLC4A5_uc002sks.1_Splice_Site_p.K773_splice	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	773						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGTGAGCTTACCTTGGTAGGA	0.547000														61			17		0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152679967	152679967	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:152679967G>A	uc003iml.3	-	1	325	c.284C>T	c.(283-285)tCt>tTt	p.S95F	PET112_uc003imm.4_Missense_Mutation_p.S95F	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	95						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGAAACCAAAGAATTTGGAGG	0.358000														121			52		0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43475327	43475327	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:43475327C>T	uc003ovk.1	-	4	1648	c.747G>A	c.(745-747)caG>caA	p.Q249Q	LRRC73_uc003ovj.1_Silent_p.Q58Q	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Homo sapiens leucine rich repeat containing 73 (LRRC73), mRNA.	249																	GGTCACAGATCTGTTGCTGCA	0.607000														52			24		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43610098	43610098	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:43610098C>T	uc003bdt.2	-	15	2178	c.2051G>A	c.(2050-2052)gGa>gAa	p.G684E		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	684					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)				GCACTTGCCTCCACATTCCGA	0.662000														29			11		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15382650	15382650	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:15382650G>A	uc001avm.4	+	4	1071	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	KAZN_uc009vog.1_Missense_Mutation_p.G264S|KAZN_uc001avo.2_Missense_Mutation_p.G258S|KAZN_uc001avp.2_Missense_Mutation_p.G170S|KAZN_uc001avq.2_Missense_Mutation_p.G170S|KAZN_uc001avr.2_Missense_Mutation_p.G167S	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	264	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CGCCATGCCGGGCGAGACGGT	0.597000														76			47		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215898	20215898	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:20215898C>T	uc010tkt.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	104					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)		AGATCTACTTCCTCCACTTTC	0.483000														37			20		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69728383	69728383	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:69728383G>A	uc010kak.3	+	11	2375	c.2099G>A	c.(2098-2100)gGa>gAa	p.G700E	BAI3_uc003pev.4_Missense_Mutation_p.G700E	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	700					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G700R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTAATGACTGGAAATGTAGGT	0.313000														48			29		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514594	75514594	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:75514594T>C	uc001xrd.1	-	1	1981	c.1765A>G	c.(1765-1767)Aat>Gat	p.N589D	MLH3_uc001xre.1_Missense_Mutation_p.N589D|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	589					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.A577_S588delAQTEKEKKKESS(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTCCACAATTGCTAGATTCT	0.363000								Mismatch excision repair (MMR)						64			32		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71416661	71416661	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:71416661G>A	uc002faa.4	+	4	462	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Missense_Mutation_p.E128K	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	128	EF-hand 3.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGGCTACATCGAAGCCAATGA	0.547000														91			49		0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326781	50326781	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:50326781G>A	uc003czb.3	-	10	1288	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	IFRD2_uc011bdp.2_Missense_Mutation_p.R328W	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	328							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGGCAGCCGGGGCAGCTGC	0.622000														11			4		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109962285	109962285	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:109962285T>A	uc001top.3	+	22	3148	c.2545T>A	c.(2545-2547)Tac>Aac	p.Y849N	UBE3B_uc001toq.3_Missense_Mutation_p.Y849N|UBE3B_uc001tos.3_Missense_Mutation_p.Y276N|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.Y849N	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	849	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GACGCTGTCTTACGACGAGGA	0.552000														44			12		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309366	248309366	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:248309366G>A	uc010pze.2	+	0	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAAGTGTTAGGAAAGGGCAAG	0.438000														54			21		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35867558	35867558	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:35867558C>T	uc003jjs.3	+	2	461	c.372C>T	c.(370-372)acC>acT	p.T124T	IL7R_uc011coo.2_Silent_p.T124T|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	124					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.T124T(2)		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)			TAGACCTAACCACTATAGGTA	0.343000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							52			23		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94275793	94275793	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:94275793C>T	uc003kkx.2	-	4	1168	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	MCTP1_uc003kkv.2_Missense_Mutation_p.D169N|MCTP1_uc003kkw.2_Missense_Mutation_p.D169N|MCTP1_uc003kkz.2_Missense_Mutation_p.D51N	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	390					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTACCACATCCCTGGACTCT	0.448000														85			61		0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233240	56233240	+	RNA	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:56233240G>A	uc010aos.3	+	0		c.278G>A								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		CCTACGATAAGAAAAAGCGGA	0.577000														19			9		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39669151	39669151	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:39669151C>T	uc002okj.1	+	10	2169	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S	PAK4_uc002okl.1_Missense_Mutation_p.P570S|PAK4_uc002okn.1_Missense_Mutation_p.P570S|PAK4_uc002okm.1_Missense_Mutation_p.P417S|PAK4_uc002oko.1_Missense_Mutation_p.P417S|PAK4_uc002okp.1_Missense_Mutation_p.P480S	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	570	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCTGAAGCACCCATTCCTGGC	0.677000														37			25		0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49806228	49806228	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:49806228G>A	uc003ozw.2	-	6	623	c.544C>T	c.(544-546)Cct>Tct	p.P182S	CRISP1_uc003ozx.2_Intron|CRISP1_uc021zaj.1_Missense_Mutation_p.P182S	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	182					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TTTGTTTCAGGATCATTTCCC	0.343000														39			23		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500839	66500839	+	RNA	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:66500839T>C	uc004aed.1	+	2		c.932T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		AACCACCTGGTGCCCAGGGCT	0.637000														37			4		0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149563178	149563178	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:149563178C>T	uc003lrq.3	+	2	829	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCTGTGTCCCAGCAACAC	0.657000														40			20		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128103504	128103504	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:128103504C>T	uc004bpp.3	+	16	3167	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	GAPVD1_uc011lzs.1_Missense_Mutation_p.P976S|GAPVD1_uc004bpq.3_Missense_Mutation_p.P976S|GAPVD1_uc010mwx.3_Missense_Mutation_p.P976S|GAPVD1_uc004bpr.3_Missense_Mutation_p.P955S|GAPVD1_uc004bps.3_Missense_Mutation_p.P976S|GAPVD1_uc010mwy.1_Missense_Mutation_p.P809S	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	976					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.R1002I(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGGAACAGACCTTGGTGGAG	0.378000														48			22		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113379536	113379536	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:113379536C>T	uc001tug.3	+	1	426	c.339C>T	c.(337-339)gtC>gtT	p.V113V	OAS3_uc001tue.3_Silent_p.V113V|OAS3_uc001tuf.3_Silent_p.V113V	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	113	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						AGAACCCAGTCCCTGGTCTGA	0.597000														67			32		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55118820	55118820	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:55118820G>A	uc010ooe.1	+	2	545	c.221G>A	c.(220-222)gGc>gAc	p.G74D	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.G74D|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G74D|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	74						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						GAGGCCTCAGGCCTGGTGTCT	0.547000														122			28		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409042	82409042	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:82409042G>A	uc001dit.4	+	5	968	c.787G>A	c.(787-789)Gat>Aat	p.D263N	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.D263N|LPHN2_uc001div.3_Missense_Mutation_p.D263N|LPHN2_uc009wcd.3_Missense_Mutation_p.D263N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	263	Olfactomedin-like.				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)		AGGAAAGACTGATATCGACCT	0.408000														133			45		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42264749	42264749	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:42264749C>T	uc003bbi.3	+	2	842	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_5'Flank	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	225	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACCCTTGCCCCGGCTACGGT	0.622000														34			16		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702224	81702224	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:81702224C>T	uc001kbh.3	-	3	396	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	118	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)			ACCTTCTCTTCCAGCTGGACC	0.592000														30			26		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238001	21238001	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:21238001G>A	uc002red.3	-	22	3768	c.3640C>T	c.(3640-3642)Cac>Tac	p.H1214Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1214					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)	GGGACTCTGTGATCCAGGAGT	0.408000														87			39		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26221300	26221300	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:26221300C>T	uc003xeu.3	+	7	1195	c.866C>T	c.(865-867)tCg>tTg	p.S289L	DOCK5_uc003xek.3_Missense_Mutation_p.S290L|DOCK5_uc011laf.2_Missense_Mutation_p.S299L	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	705						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCTCTATTTCGGATGTAAAA	0.363000														54			25		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776912	5776912	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:5776912G>A	uc001mbu.3	+	0	990	c.942G>A	c.(940-942)aaG>aaA	p.K314K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CAGGTTCTAAGGATACCAAAT	0.403000														40			24		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35814581	35814581	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:35814581C>T	uc003jjo.3	+	36	5506	c.5395C>T	c.(5395-5397)Ctc>Ttc	p.L1799F	SPEF2_uc003jjr.3_Missense_Mutation_p.L854F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1799					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)			TAAAATAATTCTCCAAAGGAG	0.294000														29			7		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596459	41596459	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:41596459C>T	uc002opt.3	+	3	653	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	215					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACGGCAACCTCCACGGGGCAG	0.592000														103			71		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172908	51172908	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:51172908C>T	uc021tif.1	-	1	3256	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V	SALL1_uc021tid.1_Silent_p.V978V|SALL1_uc021tie.1_Silent_p.V1075V|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1075					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)			TGGCGGGAATCACCGCTGAGT	0.527000														54			16		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18258322	18258322	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:18258322C>T	uc002nhz.4	+	25	3282	c.3282C>T	c.(3280-3282)tcC>tcT	p.S1094S		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	1094	Ser-rich.						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						GCTTCTCCTCCGGACTCCACC	0.632000														8			6		0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113498400	113498400	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:113498400G>A	uc002tie.2	-	7	2086	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	CKAP2L_uc002tif.2_Silent_p.I258I|CKAP2L_uc010yxp.1_Silent_p.I504I|NT5DC4_uc002tid.3_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	669						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTACCTAGGGATTGGACCAA	0.428000														247			91		0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25799845	25799845	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:25799845G>A	uc002rgh.3	-	7	988	c.738C>T	c.(736-738)tgC>tgT	p.C246C	DTNB_uc010yko.2_Silent_p.C189C|DTNB_uc002rgi.3_Silent_p.C246C|DTNB_uc002rgj.3_Silent_p.C246C|DTNB_uc002rgk.3_Silent_p.C246C|DTNB_uc002rgl.3_Silent_p.C246C|DTNB_uc002rgq.3_Silent_p.C246C|DTNB_uc002rgn.3_Silent_p.C42C|DTNB_uc010ykp.2_Silent_p.C42C|DTNB_uc002rgr.1_Silent_p.C235C|DTNB_uc010ykq.1_Silent_p.C99C	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	246						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCACATCGGCAGTAGGAGC	0.522000														17			4		0	0	1	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453536	143453536	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:143453536C>T	uc003wdk.4	-	0	1308	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	406						integral to membrane											CGGTAATTTTCCTCCACTGTT	0.368000														154			28		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904235	5904235	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:5904235A>C	uc002wmg.3	+	3	1751	c.1445A>C	c.(1444-1446)aAg>aCg	p.K482T	CHGB_uc010zqz.2_Missense_Mutation_p.K165T	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	482						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						GCCCCAGGGAAGTGGCAGCAG	0.498000														88			43		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149915417	149915417	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:149915417C>T	uc003lsk.4	+	5	1909	c.1407C>T	c.(1405-1407)taC>taT	p.Y469Y	NDST1_uc011dcj.2_Silent_p.Y469Y|NDST1_uc003lsl.3_Silent_p.Y469Y	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	469	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCCGCTACCGCCGTGGCT	0.617000														20			14		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477336	128477336	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:128477336G>A	uc002tpg.2	-	15	2462	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	755	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATCCCATGAGGATGAGGAGGC	0.622000														71			29		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34182916	34182916	+	Missense_Mutation	SNP	G	A	A	rs142055675		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:34182916G>A	uc011kap.2	+	14	2194	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	607					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						GCATATACCCGGGCCTGCCAG	0.463000														53			39		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45515532	45515532	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:45515532G>A	uc021uvq.1	+	3	633	c.502G>A	c.(502-504)Gag>Aag	p.E168K	RELB_uc021uvp.1_Missense_Mutation_p.E165K	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	168	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCCGCCATCGAGGTGGGCCC	0.687000														30			6		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768332	57768332	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:57768332G>A	uc002yan.3	+	0	2258	c.2258G>A	c.(2257-2259)gGg>gAg	p.G753E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	753						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)					TCTCCAAATGGGAGGCTGGAA	0.637000														21			3		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848128	166848128	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:166848128C>T	uc002udo.4	-	27	5884	c.5657G>A	c.(5656-5658)cGa>cAa	p.R1886Q	SCN1A_uc010fpk.3_Missense_Mutation_p.R1858Q|SCN1A_uc021vsb.1_Missense_Mutation_p.R1875Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCTGTATTCGTAGAGCATC	0.443000														67			21		0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30558470	30558470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:30558470C>T	uc003nql.3	+	24	2625	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	ABCF1_uc003nqm.3_Nonsense_Mutation_p.R806*	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	844					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	p.R844R(2)|p.P843S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGCCGGCCCCGAGAGTGAGC	0.567000														124			50		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36803	36803	+	RNA	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrGL000241.1:36803G>T	uc011mgv.2	-	0		c.73C>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CTTCTGCGCGGAGAGGCTGAA	0.592000														29			3		0.004672	0.00470422	1	1	0
MAN1A2	10905	broad.mit.edu	37	1	118042086	118042086	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:118042086C>T	uc001ehd.1	+	10	2308	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	MAN1A2_uc009whg.1_Silent_p.I319I	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	529					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGTATTATATCCTCCGTCCAG	0.463000														37			36		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949128	27949128	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:27949128G>A	uc003zqv.1	-	6	2192	c.1542C>T	c.(1540-1542)acC>acT	p.T514T	LINGO2_uc010mjf.1_Silent_p.T514T|LINGO2_uc003zqu.1_Silent_p.T514T|LINGO2_uc022bfc.1_Silent_p.T514T	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	514						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTACATAGGGGTCCTGTTCG	0.448000														58			37		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427398	76427398	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:76427398C>T	uc021rkq.1	+	27	4870	c.4535C>T	c.(4534-4536)tCc>tTc	p.S1512F	LMO7_uc010thv.2_Missense_Mutation_p.S1230F|LMO7_uc001vjv.3_Missense_Mutation_p.S1279F|LMO7_uc010thw.2_Missense_Mutation_p.S1156F	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1564						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)		AACCCCTCCTCCAGCGTGCCC	0.597000														44			14		0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5642988	5642988	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:5642988G>A	uc003sou.3	+	1	1065	c.933G>A	c.(931-933)acG>acA	p.T311T	FSCN1_uc003sov.3_Silent_p.T33T	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	311					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTACCCACACGGGCAAGTACT	0.642000														168			4		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931766	184931766	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:184931766C>T	uc003ivz.1	+	2	3210	c.1775C>T	c.(1774-1776)cCa>cTa	p.P592L	STOX2_uc003iwa.1_Missense_Mutation_p.P281L	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	592					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AACTCTTGTCCAACAAAAACA	0.517000														38			16		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6758923	6758923	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:6758923G>A	uc002wmu.1	+	2	1163	c.378G>A	c.(376-378)ggG>ggA	p.G126G		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	126					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AAACGAGTGGGAAAACAACCC	0.393000														51			16		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96320195	96320195	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:96320195C>T	uc004atw.3	+	13	2596	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F	FAM120A_uc004aty.3_Silent_p.F638F|FAM120A_uc004atz.3_Silent_p.F506F|FAM120A_uc010mrg.3_Silent_p.F170F	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	857	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCTCCCTTTCCCGCCGCCAC	0.652000														7			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063434	9063434	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:9063434G>A	uc002mkp.3	-	2	24216	c.24012C>T	c.(24010-24012)ctC>ctT	p.L8004L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8006	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						CAGACGTGAGGAGTGAAGTCA	0.463000														30			29		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040238	31040238	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:31040238C>T	uc002nsu.1	+	3	3850	c.3712C>T	c.(3712-3714)Ctt>Ttt	p.L1238F	ZNF536_uc010edd.1_Missense_Mutation_p.L1238F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1238					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)					CAGCCAGGGTCTTCTCCAAGC	0.667000														60			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107099435	107099435	+	RNA	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:107099435G>A	uc021ser.1	-	105		c.4653C>T								Parts of antibodies, mostly variable regions.																		CCTCACACTGGACACCTGCAA	0.527000														62			47		0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1145057	1145057	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:1145057C>T	uc002wel.4	+	6	869	c.701C>T	c.(700-702)cCa>cTa	p.P234L	PSMF1_uc010zpo.2_Missense_Mutation_p.P146L|PSMF1_uc010zpp.2_Missense_Mutation_p.P172L|PSMF1_uc002wen.4_Missense_Mutation_p.P234L|PSMF1_uc002wep.4_Missense_Mutation_p.P185L	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA.	234	Pro-rich.				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|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	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CGACTTCCTCCAGGCGCTGTG	0.597000														222			99		0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	60522691	60522691	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:60522691G>A	uc003dkx.4	-	4	376	c.5C>T	c.(4-6)tCg>tTg	p.S2L	FHIT_uc003dky.3_Missense_Mutation_p.S2L|FHIT_uc010hnn.1_Missense_Mutation_p.S2L	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	2	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		AAATCTGAACGACATGTCCTC	0.383000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3					32			12		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20322509	20322509	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:20322509C>T	uc002wru.3	+	25	3571	c.3457C>T	c.(3457-3459)Cac>Tac	p.H1153Y	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1153										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)		GGCCCTGTTCCACGATCGTTT	0.438000														33			11		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168098385	168098385	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:168098385G>T	uc002udx.3	+	7	1230	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	XIRP2_uc010fpn.3_Missense_Mutation_p.D414Y|XIRP2_uc010fpo.3_Missense_Mutation_p.D381Y|XIRP2_uc002udy.3_Missense_Mutation_p.D206Y|XIRP2_uc010fpq.3_Missense_Mutation_p.D159Y|XIRP2_uc010fpr.3_Missense_Mutation_p.D159Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	206					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						CCTTTATTCTGACAAAGAGAT	0.368000														117			51		7.06795e-37	7.20783e-37	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103364301	103364301	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:103364301C>T	uc001dum.3	-	55	4523	c.4205G>A	c.(4204-4206)gGa>gAa	p.G1402E	COL11A1_uc001duk.3_Missense_Mutation_p.G586E|COL11A1_uc001dul.3_Missense_Mutation_p.G1390E|COL11A1_uc001dun.3_Missense_Mutation_p.G1351E|COL11A1_uc009weh.3_Missense_Mutation_p.G1274E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1390	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCGGTTTTTCCAGGAGGACC	0.473000														39			29		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117131439	117131439	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:117131439C>T	uc001egq.1	-	8	3082	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	IGSF3_uc001egr.1_Missense_Mutation_p.E773K|IGSF3_uc001egs.1_Missense_Mutation_p.E446K	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	773	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCGCTGACCTCGGCTCTCTGG	0.627000														53			39		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228117	174228117	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:174228117C>T	uc002uic.1	+	3	679	c.548C>T	c.(547-549)tCc>tTc	p.S183F	CDCA7_uc002uid.1_Missense_Mutation_p.S104F|CDCA7_uc010zej.1_Missense_Mutation_p.S139F|CDCA7_uc010zek.1_Missense_Mutation_p.S62F	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	104	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S183S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATTCCAACTCCGATTCAGAA	0.433000														49			24		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532312	42532312	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:42532312C>T	uc010dni.3	+	3	3303	c.3007C>T	c.(3007-3009)Ccg>Tcg	p.P1003S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1003						nucleus	DNA binding	p.T1002P(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAGTATGACCCGTTGCTCTA	0.443000									Schinzel-Giedion syndrome					105			33		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231424	7231424	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr18:7231424C>T	uc010wzk.2	+	0	288	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	96										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						TGACCCGGATCGTGGTCCTGA	0.577000														55			27		0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76760597	76760597	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:76760597A>C	uc003kff.1	-	2	492	c.205T>G	c.(205-207)Tgg>Ggg	p.W69G	WDR41_uc011csy.1_Missense_Mutation_p.W69G|WDR41_uc011csz.1_Intron|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Non-coding_Transcript	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	69										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TGGGCATTCCACACAACTACA	0.348000														15			9		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33073614	33073614	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr9:33073614G>A	uc003zsf.1	-	1	325	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	SMU1_uc011lnu.1_Intron	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	73	CTLH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AGGTCAATGAGGGTTTTGTCT	0.483000														20			12		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990380	215990380	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:215990380C>T	uc001hku.1	-	47	9916	c.9529G>A	c.(9529-9531)Gaa>Aaa	p.E3177K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3177	Fibronectin type-III 18.				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)		CAGATAGATTCAGGTTTTTGA	0.403000										HNSCC(13;0.011)				97			42		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3443716	3443716	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:3443716G>A	uc022aqr.1	-	8	1554	c.1164C>T	c.(1162-1164)acC>acT	p.T388T		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	389	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCTCTGACAGGTGATGCTTT	0.468000														21			7		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60504852	60504852	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:60504852G>A	uc002ybn.2	+	12	2279	c.2191G>A	c.(2191-2193)Ggc>Agc	p.G731S	CDH4_uc002ybr.2_Missense_Mutation_p.G694S|CDH4_uc002ybp.2_Missense_Mutation_p.G657S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	731					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)			GGCTGGTCTGGGCACCGGTGC	0.612000														103			31		0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109486135	109486135	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:109486135G>A	uc021ora.1	-	4	675	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Silent_p.L172L|CLCC1_uc001dwf.1_Silent_p.L222L|CLCC1_uc009wes.1_Intron|CLCC1_uc009wet.1_Intron|CLCC1_uc001dwh.1_Silent_p.L222L	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	222						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AAACTGAACAGAAAGCTGATG	0.368000														103			63		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846641	7846641	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:7846641C>T	uc010rbg.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCTTGTTCCTGAGGCTGT	0.408000														59			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472716	179472716	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179472716C>T	uc021vsy.1	-	224	45319	c.45094G>A	c.(45094-45096)Gaa>Aaa	p.E15032K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8727K|TTN_uc021vta.1_Missense_Mutation_p.E8660K|TTN_uc021vtb.1_Missense_Mutation_p.E8535K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15959	Fibronectin type-III 9.						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)			CCAACAATTTCCCCACCACCA	0.473000														79			32		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247572	247572	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:247572C>A	uc001qhw.2	+	3	1043	c.1043C>A	c.(1042-1044)cCa>cAa	p.P348Q	IQSEC3_uc001qhu.1_Missense_Mutation_p.P45Q|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.	348					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)		AGCCGCCTGCCACGGCGGATC	0.667000														31			10		0.00621372	0.00624939	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616347	248616347	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:248616347C>T	uc001iek.1	+	0	249	c.249C>T	c.(247-249)ctC>ctT	p.L83L		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82I(1)		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)			CCAAGATGCTCCAGGACCTCC	0.532000														244			22		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248874	20248874	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:20248874C>T	uc010tku.2	+	0	393	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	131					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)		GACCCCTCCACTATGCTACCA	0.502000														181			61		0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176175769	176175769	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:176175769G>A	uc001gku.1	-	0	602	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F	RFWD2_uc001gkv.1_Missense_Mutation_p.L116F|RFWD2_uc001gkw.1_5'UTR	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	116					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGGGGGCGAGGAGAGGTCGC	0.632000														54			19		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155307494	155307494	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:155307494C>T	uc009wqq.3	-	27	9347	c.8867G>A	c.(8866-8868)cGa>cAa	p.R2956Q	ASH1L_uc001fkt.3_Missense_Mutation_p.R2951Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2956					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)			AGTACGCCTTCGCAGTTTCCT	0.463000														151			62		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270394	1270395	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:1270394_1270395GG>AA	uc001lta.3	+	30	12343_12344	c.12284_12285GG>AA	c.(12283-12285)agg>aAA	p.R4095K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4095	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCTCCAGGACCACGGCCA	0.703000														183			71		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021425	132021425	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:132021425G>A	uc002tsn.2	+	14	2449	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.E399E|POTEE_uc002tsl.2_Silent_p.E381E|POTEE_uc010fmy.1_Silent_p.E263E	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	799	Actin-like.						ATP binding										TGGCTCCCGAGGAGCACCCCA	0.582000														166			68		0	0	1	0	0
HOXD8	3234	broad.mit.edu	37	2	176995396	176995396	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:176995396C>T	uc002uko.3	+	0	929	c.302C>T	c.(301-303)cCg>cTg	p.P101L	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Missense_Mutation_p.P101L	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	101					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGGGGCAGCCCGGCCGCTGCC	0.796000														57			30		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248864	20248864	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:20248864G>A	uc010tku.2	+	0	383	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	128					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)		GCTATCTGCCGACCCCTCCAC	0.512000														158			82		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4925420	4925420	+	Silent	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:4925420G>T	uc002cyb.3	+	14	3348	c.3009G>T	c.(3007-3009)tcG>tcT	p.S1003S	UBN1_uc010uxw.2_Silent_p.S1003S|UBN1_uc002cyc.3_Silent_p.S1003S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1003	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GTGTGACATCGTCTACCTCCT	0.592000														130			53		1.74971e-23	1.78226e-23	1	1	0
GALE	2582	broad.mit.edu	37	1	24124207	24124207	+	Missense_Mutation	SNP	C	T	T	rs140878602	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:24124207C>T	uc009vqo.1	-	4	716	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	GALE_uc001bhv.1_Missense_Mutation_p.R169Q|GALE_uc001bhx.1_Missense_Mutation_p.R169Q|GALE_uc001bhz.1_Missense_Mutation_p.R95Q	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	169			R -> W (in EDG).		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)		GCACAGGTCCCGGATCATTTC	0.622000														60			38		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75658870	75658870	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:75658870G>A	uc002bah.3	-	3	432	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	MAN2C1_uc010bkk.3_Missense_Mutation_p.P139S|MAN2C1_uc002baf.3_Missense_Mutation_p.P139S|MAN2C1_uc002bag.3_Missense_Mutation_p.P139S|MAN2C1_uc010umi.1_Intron|MAN2C1_uc010umj.1_Non-coding_Transcript|MAN2C1_uc010umk.1_Non-coding_Transcript			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	139					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CACCTTCGGGGGTCTCTTTCC	0.577000														17			10		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7415147	7415147	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:7415147C>T	uc002ghf.4	+	24	4505	c.4119C>T	c.(4117-4119)gcC>gcT	p.A1373A		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1373					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCATTGAAGCCGTGCGGAAGG	0.587000														47			22		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382074	3382074	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:3382074T>C	uc010xhi.2	+	1	465	c.395T>C	c.(394-396)cTg>cCg	p.L132P	NFIC_uc002lxo.3_Missense_Mutation_p.L123P|NFIC_uc010xhh.2_Missense_Mutation_p.L123P|NFIC_uc010xhj.2_Missense_Mutation_p.L132P|NFIC_uc002lxp.3_Missense_Mutation_p.L132P	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	132					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGGCTGGACCTGGTCATGGTC	0.672000														87			68		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474497	140474497	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:140474497G>A	uc003lil.3	+	0	261	c.123G>A	c.(121-123)acG>acA	p.T41T	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	41	Cadherin 1.				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)			CCGAGGAAACGGAGAGTGGCT	0.507000														31			26		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687412	18687412	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:18687412C>T	uc003sui.3	+	8	1081	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	HDAC9_uc003sue.3_Missense_Mutation_p.S344L|HDAC9_uc011jyd.2_Missense_Mutation_p.S344L|HDAC9_uc003suh.3_Missense_Mutation_p.S344L|HDAC9_uc003suj.3_Missense_Mutation_p.S303L|HDAC9_uc011jya.2_Missense_Mutation_p.S342L|HDAC9_uc003sua.1_Missense_Mutation_p.S322L|HDAC9_uc003sud.2_Missense_Mutation_p.S344L|HDAC9_uc011jyc.2_Missense_Mutation_p.S303L|HDAC9_uc011jyb.2_Missense_Mutation_p.S300L|HDAC9_uc003suf.2_Missense_Mutation_p.S375L|HDAC9_uc010kud.2_Missense_Mutation_p.S347L|HDAC9_uc011jye.2_Missense_Mutation_p.S316L|HDAC9_uc011jyf.2_Missense_Mutation_p.S267L|HDAC9_uc010kue.1_Missense_Mutation_p.S87L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	344					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACACAGGCTTCGAATTCACTC	0.473000														25			6		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85686859	85686859	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:85686859G>A	uc003yct.4	+	2	475	c.341G>A	c.(340-342)gGa>gAa	p.G114E	RALYL_uc003ycq.4_Missense_Mutation_p.G101E|RALYL_uc003ycr.4_Missense_Mutation_p.G101E|RALYL_uc003ycs.4_Missense_Mutation_p.G101E|RALYL_uc010lzy.3_Missense_Mutation_p.G101E|RALYL_uc003ycu.4_Missense_Mutation_p.G28E	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	101							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCAAAACCTGGAAACAAGAGG	0.353000														15			3		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129243	3129243	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:3129243G>A	uc021vzx.1	-	0	474	c.474C>T	c.(472-474)ctC>ctT	p.L158L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.L158L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	158					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CTTGAGCCTGGAGATTATTTT	0.448000														53			18		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82937001	82937001	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:82937001G>A	uc003pjl.1	-	4	1089	c.562C>T	c.(562-564)Cac>Tac	p.H188Y	IBTK_uc011dyv.1_Missense_Mutation_p.H188Y|IBTK_uc011dyw.1_Missense_Mutation_p.H188Y|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.H188Y	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	188					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACACGGAGTGAAATTTACAA	0.358000														66			29		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55108183	55108183	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:55108183C>T	uc003dhf.3	+	37	3274	c.3226C>T	c.(3226-3228)Cag>Tag	p.Q1076*		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1076						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCTCCAAGCCCAGACAGTCCT	0.517000														96			37		0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892177	90892177	+	RNA	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:90892177G>A	uc010uqf.2	-	0		c.503C>T								Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA.																		CTAGTGGGAGGGATAGTGTTG	0.473000														36			8		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9227166	9227166	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:9227166G>A	uc001qvk.1	-	28	3859	c.3746C>T	c.(3745-3747)tCc>tTc	p.S1249F	A2M_uc009zgk.1_Missense_Mutation_p.S1099F	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1249					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGGGTGGAGGAGAAACCGCC	0.473000														19			4		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782369	54782369	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:54782369C>T	uc002qfb.3	-	6	1269	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.V335M|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.V335M|LILRB2_uc010yet.2_Missense_Mutation_p.V219M|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	335	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGAGGCCACTGTGGGGCCT	0.607000														87			25		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5424294	5424294	+	Silent	SNP	T	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:5424294T>A	uc002gci.3	-	13	4377	c.3822A>T	c.(3820-3822)cgA>cgT	p.R1274R	NLRP1_uc002gcg.1_Silent_p.R1278R|NLRP1_uc002gch.4_Intron|NLRP1_uc002gck.3_Intron|NLRP1_uc002gcj.3_Silent_p.R1244R|NLRP1_uc002gcl.3_Intron	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1274					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)				GCTTGTGGATTCGCACAAACT	0.488000														11			10		0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6193646	6193646	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:6193646C>T	uc011jwo.1	+	14	2584	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S	USP42_uc011jwp.2_Missense_Mutation_p.P821S|USP42_uc011jwq.2_Missense_Mutation_p.P628S|USP42_uc011jwr.1_Missense_Mutation_p.P666S	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	821	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCTGTGTGATCCCGGGAGCTT	0.711000														108			29		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923926	230923926	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:230923926A>C	uc002vqd.2	-	1	602	c.143T>G	c.(142-144)aTg>aGg	p.M48R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.M48R|SLC16A14_uc002vqf.3_Missense_Mutation_p.M48R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	48						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTGGGAGCCCATGATGAGGAT	0.582000														56			28		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61460144	61460144	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr20:61460144G>A	uc002ydm.3	+	17	932	c.929G>A	c.(928-930)gGc>gAc	p.G310D		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	310	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.G310G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGCCAGAATGGCGTGCCAGGA	0.697000														54			18		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513733	99513733	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:99513733C>T	uc003dti.1	+	2	1119	c.991C>T	c.(991-993)Cca>Tca	p.P331S	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P330S|COL8A1_uc003dth.1_Missense_Mutation_p.P330S	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	330	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						GCCAGGATTTCCAGGTGGCAA	0.632000														45			20		0	0	1	0	0
C15orf24	56851	broad.mit.edu	37	15	34376625	34376625	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:34376625G>A	uc001zhm.3	-	4	652	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	213						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		GTCTTGTCATGAACTCAGAAA	0.453000														97			36		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77059387	77059387	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:77059387G>A	uc002bby.3	-	9	1350	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	SCAPER_uc002bbx.3_Missense_Mutation_p.R185C|SCAPER_uc002bbz.1_Missense_Mutation_p.R302C|SCAPER_uc002bca.1_Missense_Mutation_p.R296C|SCAPER_uc002bcb.1_Missense_Mutation_p.R437C|SCAPER_uc002bcc.1_Missense_Mutation_p.R431C	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	430	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTTTCTAGACGATCTGCTAGC	0.338000														13			7		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139209816	139209817	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr8:139209816_139209817GG>AA	uc003yuy.3	-	7	936_937	c.765_766CC>TT	c.(763-768)ctccgt>ctTTgt	p.R256C	FAM135B_uc003yux.3_Missense_Mutation_p.R157C|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	256										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGTGGAGACGGAGACCCCGGT	0.604000										HNSCC(54;0.14)				57			26		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100358008	100358008	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:100358008C>T	uc001dsi.1	+	23	3504	c.3104C>T	c.(3103-3105)aCc>aTc	p.T1035I	AGL_uc001dsj.1_Missense_Mutation_p.T1035I|AGL_uc001dsk.1_Missense_Mutation_p.T1035I|AGL_uc001dsl.1_Missense_Mutation_p.T1035I|AGL_uc001dsm.1_Missense_Mutation_p.T1019I|AGL_uc001dsn.1_Missense_Mutation_p.T1018I	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1035					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)		AATGGTTCAACCTTTGTGAAA	0.353000														44			28		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64503038	64503038	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:64503038C>T	uc009ypu.3	-	10	1499	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	RASGRP2_uc001oat.3_Silent_p.V326V|RASGRP2_uc001oau.3_Silent_p.V279V|RASGRP2_uc009ypv.3_Silent_p.V424V|RASGRP2_uc009ypw.3_Silent_p.V424V	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	424					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						CGATGTGCTCCACCACGAGGG	0.657000														66			21		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	465607	465607	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:465607C>T	uc001qif.1	-	5	1132	c.769G>A	c.(769-771)Gat>Aat	p.D257N	KDM5A_uc010sdn.1_Missense_Mutation_p.D216N|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	257					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						CCTTCTTTATCTTTTGTTCCC	0.383000			T	NUP98	AML									20			9		0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44495982	44495982	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:44495982C>T	uc003bem.3	+	3	481	c.351C>T	c.(349-351)ccC>ccT	p.P117P	PARVB_uc003ben.3_Silent_p.P84P|PARVB_uc010gzn.3_Silent_p.P32P|PARVB_uc003beo.3_Silent_p.P47P	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	84	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				AGGAAGACCCCAAGTTCAAGG	0.552000														69			26		0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104495	44104495	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:44104495G>A	uc003tjs.3	-	1	589	c.531C>T	c.(529-531)gcC>gcT	p.A177A		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	177					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	p.A177A(2)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CTCGCTTGCCGGCCTTGATCT	0.647000														16			9		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47351283	47351283	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr14:47351283C>T	uc001wwj.4	-	10	2538	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.E496K|MDGA2_uc010ani.3_Missense_Mutation_p.E285K	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	725	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAATCTCCTTCACCAAATTTG	0.308000														18			8		0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55183172	55183172	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:55183172C>T	uc001cxv.3	+	2	402	c.270C>T	c.(268-270)gcC>gcT	p.A90A	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Silent_p.A79A			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	79							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CAGAACAGGCCAAGACCTATA	0.308000														32			8		0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101697	3101697	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:3101697G>A	uc002fvd.1	+	0	885	c.885G>A	c.(883-885)atG>atA	p.M295I		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATTGGGATATGAAGGCAGCCC	0.448000														73			46		0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316257	151316257	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:151316257G>A	uc001exv.1	-	8	871	c.657C>T	c.(655-657)tcC>tcT	p.S219S	RFX5_uc001exw.1_Silent_p.S219S|RFX5_uc010pcx.1_Silent_p.S179S	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	219						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R218R(1)|p.S219Y(1)|p.R218L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAACTGAAGGACCGTTTCA	0.592000														76			26		0	0	1	0	0
PRHOXNB	646625	broad.mit.edu	37	13	28552275	28552275	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr13:28552275C>T	uc010aan.1	-	1	490	c.490G>A	c.(490-492)Gac>Aac	p.D164N		NM_001105577	NP_001099047	A6NGE7	URAD_HUMAN	Homo sapiens parahox cluster neighbor (PRHOXNB), mRNA.	164					allantoin biosynthetic process|purine base metabolic process	peroxisome	carboxy-lyase activity			large_intestine(1)|lung(1)|stomach(1)	3	all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0161)	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)		CGGAGGAGGTCGGCCAGGCGC	0.766000														10			5		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36849	36849	+	RNA	SNP	C	G	G			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chrGL000241.1:36849C>G	uc011mgv.2	-	0		c.27G>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CGGAGCAGCACCAGGGCGGGG	0.577000														19			3		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569741	142569741	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:142569741C>T	uc003wbx.2	-	15	2125	c.1896_splice	c.e15-1	p.R632_splice	TRPV6_uc003wbw.1_Splice_Site_p.R418_splice|TRPV6_uc010lou.1_Splice_Site_p.R503_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	632					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)					CTGTCTTCCACCCTGTGGAAT	0.557000														82			34		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183344	13183344	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:13183344C>T	uc010obg.2	-	1	772	c.529G>A	c.(529-531)Gga>Aga	p.G177R		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	177						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										AGGTCATCTCCTTTCAGCTTT	0.453000														779			142		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64676806	64676807	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:64676806_64676807GG>AA	uc001obx.3	-	14	2255_2256	c.2140_2141CC>TT	c.(2140-2142)cct>TTt	p.P714F		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	714							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						ACGCAGGCAAGGGACAGGTGGC	0.589000														60			22		0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406470	38406470	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr10:38406470G>T	uc001izk.3	+	7	1221	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	ZNF37A_uc001izl.3_Nonsense_Mutation_p.E131*|ZNF37A_uc001izm.3_Nonsense_Mutation_p.E131*	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	131						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CTGGCTGAATGAAGACCTCAT	0.348000														61			46		2.00842e-17	2.03867e-17	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55658707	55658707	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:55658707G>A	uc010rip.2	+	6	1050	c.958G>A	c.(958-960)Gat>Aat	p.D320N	TRIM51_uc010riq.2_Missense_Mutation_p.D177N	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	320	B30.2/SPRY.					intracellular	zinc ion binding										AGATGATCCCGATATCACTGG	0.428000														97			49		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584887	179584887	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:179584887A>C	uc021vsy.1	-	77	19975	c.19750T>G	c.(19750-19752)Tgg>Ggg	p.W6584G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.W3245G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7511	Ig-like 47.						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)			TCTTTCAGCCAGACAACAGAA	0.468000														54			21		0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426396	132426396	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:132426396C>T	uc001ujf.3	+	4	1559	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	PUS1_uc001ujg.3_Silent_p.F340F|PUS1_uc001ujh.3_Silent_p.F340F|PUS1_uc001uji.3_Silent_p.F315F	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	368						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)		TCGCAGCCTTCAAGGAGGAGC	0.607000														61			16		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104985	168104985	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:168104985G>A	uc002udx.3	+	8	7172	c.7083G>A	c.(7081-7083)tcG>tcA	p.S2361S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S2186S|XIRP2_uc010fpq.3_Silent_p.S2139S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2186					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						AAAGTTCATCGATGTTTCTGC	0.488000														126			58		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620304	7620304	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr3:7620304G>A	uc003bqm.2	+	7	1985	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E571K|GRM7_uc003bql.2_Missense_Mutation_p.E571K|GRM7_uc003bqn.1_Missense_Mutation_p.E154K|GRM7_uc010hch.1_Missense_Mutation_p.E82K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	571					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAGGCCCAATGAAAATCGAAC	0.522000														111			47		0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107300035	107300035	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:107300035A>C	uc010rvp.2	-	7	953	c.923T>G	c.(922-924)gTa>gGa	p.V308G	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	308							catalytic activity	p.D307H(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACCATATTTTACTAAGTCTGA	0.348000														18			10		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489503	128489503	+	Silent	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:128489503C>T	uc003vnz.4	+	29	5279	c.5070C>T	c.(5068-5070)ctC>ctT	p.L1690L	FLNC_uc003voa.4_Silent_p.L1690L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1690					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						GGGCAGAGCTCGATGTGGATG	0.602000														66			21		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23417983	23417983	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:23417983C>T	uc001bgk.2	-	3	3322	c.2772G>A	c.(2770-2772)tgG>tgA	p.W924*	LUZP1_uc010odv.1_Nonsense_Mutation_p.W924*|LUZP1_uc001bgl.3_Nonsense_Mutation_p.W924*|LUZP1_uc001bgm.1_Nonsense_Mutation_p.W924*	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	924						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCCTACTCTTCCAGGCATTCC	0.502000														146			35		0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18549973	18549973	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr16:18549973G>A	uc002dfe.3	-	10	1167	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	NOMO2_uc002dff.3_Silent_p.F365F|NOMO2_uc010bvx.3_Silent_p.F198F	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	365						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.S364*(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TCTCAAGGCGGAATGAGCCAT	0.403000														67			23		0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11510634	11510634	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:11510634G>A	uc002mro.2	-	15	1725	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mrp.2_Intron	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	549	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CACACTGGGGGAGATGCAGAG	0.652000														59			50		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222873	27222873	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:27222873G>A	uc003nja.3	+	10	1454	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.R223K|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	480					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						GCACCTGAGAGGCCCTCAGAC	0.512000														159			54		0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39283020	39283020	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:39283020G>A	uc003oor.4	-	4	863	c.849C>T	c.(847-849)atC>atT	p.I283I	KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Intron|KCNK16_uc010jwy.3_Intron	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCTGGTCAGGGATGTTGCAGT	0.552000														13			11		0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5917990	5917990	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:5917990G>A	uc002mdw.3	-	16	1701	c.1474_splice	c.e16-1	p.A492_splice	RANBP3_uc002mdv.3_Splice_Site_p.A211_splice|RANBP3_uc002mdx.3_Splice_Site_p.A487_splice|RANBP3_uc002mdy.3_Splice_Site_p.A424_splice|RANBP3_uc002mdz.3_Splice_Site_p.A419_splice|RANBP3_uc010duq.3_Splice_Site_p.A397_splice|RANBP3_uc010xix.2_Splice_Site_p.A364_splice	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	492	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTTGGAGCTGGCCTGGGAAGG	0.642000														54			39		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31137252	31137252	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:31137252G>A	uc003aiy.1	+	1	853	c.749G>A	c.(748-750)aGg>aAg	p.R250K	OSBP2_uc011ala.1_Missense_Mutation_p.R85K|OSBP2_uc010gwc.1_Missense_Mutation_p.R77K|OSBP2_uc003aix.1_Missense_Mutation_p.R250K|OSBP2_uc011alb.1_Missense_Mutation_p.R250K|OSBP2_uc003aiz.1_Missense_Mutation_p.R250K	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	250	PH.				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						AGTGGGGCCAGGAGCTACCAC	0.612000														47			20		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528777	57528777	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:57528777C>T	uc011kdi.1	+	3	722	c.610C>T	c.(610-612)Cag>Tag	p.Q204*		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.									p.H203Q(1)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAATCAACATCAGATAATTCA	0.343000														17			5		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123339944	123339944	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr12:123339944G>A	uc001udj.1	+	10	1044	c.985G>A	c.(985-987)Gag>Aag	p.E329K	HIP1R_uc001udg.1_Missense_Mutation_p.E317K|HIP1R_uc001udi.1_Missense_Mutation_p.E329K|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	329					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCGCGGGGGAGCCAGTGGT	0.682000														5			4		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136036	74136036	+	Silent	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr17:74136036G>A	uc002jqx.3	-	1	796	c.441C>T	c.(439-441)atC>atT	p.I147I	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	147					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCACTTGTAGATGGCCGACA	0.627000														27			29		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478616	1478616	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:1478616G>T	uc003skj.4	-	9	2129	c.1982C>A	c.(1981-1983)cCa>cAa	p.P661Q	MICALL2_uc003ski.4_Missense_Mutation_p.P148Q	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	661						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)		GCGGCGGGGTGGGGAGGGGGA	0.701000														59			17		1.67942e-08	1.69881e-08	1	1	0
DTNBP1	84062	broad.mit.edu	37	6	15663088	15663088	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:15663088G>A	uc003nbm.3	-	0	202	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	DTNBP1_uc003nbl.3_5'UTR|DTNBP1_uc010jph.3_5'UTR|DTNBP1_uc003nbp.3_Missense_Mutation_p.L5F	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	5					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)			CGCTCGCGAAGGGTCTCCAGC	0.721000									Hermansky-Pudlak syndrome					137			39		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9107695	9107695	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr1:9107695G>A	uc001apo.3	-	3	684	c.392C>T	c.(391-393)tCc>tTc	p.S131F	SLC2A5_uc010nzy.2_Missense_Mutation_p.S72F|SLC2A5_uc010nzz.2_Missense_Mutation_p.S16F|SLC2A5_uc010oaa.2_Missense_Mutation_p.S87F|SLC2A5_uc010oac.2_Intron|SLC2A5_uc001app.4_Missense_Mutation_p.S131F	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	131					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)		CAAAAGTCTGGAAATAATGAT	0.458000														126			122		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911274	89911274	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:89911274G>A	uc001pdf.4	+	15	1956	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	NAALAD2_uc009yvx.3_Missense_Mutation_p.G583E|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	616					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACAGACCATGGAGTATCATTT	0.303000														89			37		0	0	1	0	0
C22orf28	51493	broad.mit.edu	37	22	32795727	32795727	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr22:32795727C>T	uc003amm.2	-	5	648	c.517G>A	c.(517-519)Gag>Aag	p.E173K	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	173					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						ACCCCCATCTCCAAGGCCTCC	0.512000														174			96		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103019770	103019770	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:103019770G>A	uc003vbz.3	-	15	1859	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	SLC26A5_uc003vbt.2_Missense_Mutation_p.P533S|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.P501S	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	533	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTTATTCCAGGAATTTCTTTC	0.313000														26			7		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73164121	73164121	+	Silent	SNP	T	C	C			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr4:73164121T>C	uc003hgk.2	-	17	2500	c.2463A>G	c.(2461-2463)acA>acG	p.T821T	ADAMTS3_uc003hgl.3_Silent_p.T162T	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	821	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTACTTATATGTCAGGCTAG	0.358000														76			35		0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12023923	12023923	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:12023923G>A	uc010rcg.1	-	2	433	c.275C>T	c.(274-276)cCc>cTc	p.P92L	DKK3_uc010rcf.2_Missense_Mutation_p.P92L|DKK3_uc001mju.3_Missense_Mutation_p.P92L|DKK3_uc001mjv.3_Missense_Mutation_p.P92L|DKK3_uc001mjw.3_Missense_Mutation_p.P92L	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	92					Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTGATAGCTGGGAGGTAAGTT	0.418000														55			22		0	0	1	0	0
CNRIP1	25927	broad.mit.edu	37	2	68546460	68546460	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:68546460delA	uc002sek.4	-	0	724	c.73delT	c.(73-75)tacfs	p.Y25fs	CNRIP1_uc002sej.4_Frame_Shift_Del_p.Y25fs|CNRIP1_uc010fdd.1_Frame_Shift_Del_p.Y25fs	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA.	25							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						TCCACCTTGTAAAAGACCGGG	0.647													---	4	---	---	2	---					
IHH	3549	broad.mit.edu	37	2	219920037	219920037	+	Frame_Shift_Del	DEL	A	-	-	rs394452	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr2:219920037delA	uc002vjo.2	-	2	1177	c.1128delT	c.(1126-1128)actfs	p.T376fs		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	376					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCCCCCGGAGTCCAGCTGC	0.657													---	39	---	---	17	---					
SPINK5	11005	broad.mit.edu	37	5	147474015	147474028	+	Frame_Shift_Del	DEL	CAACAAATGTGCCC	-	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr5:147474015_147474028delCAACAAATGTGCCC	uc003lox.2	+	8	838_851	c.765_778delCAACAAATGTGCCC	c.(763-780)ggcaacaaatgtgccctgfs	p.G255fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Del_p.G227fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.G236fs|SPINK5_uc003low.2_Frame_Shift_Del_p.G255fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.G255fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	255	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.G255V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCATGGCAACAAATGTGCCCTGTGTGCTGA	0.416													---	84	---	---	28	---					
PRRC2A	7916	broad.mit.edu	37	6	31599519	31599519	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:31599519delC	uc003nvb.4	+	15	3318	c.3069delC	c.(3067-3069)tgcfs	p.C1023fs	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Frame_Shift_Del_p.C1023fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1023	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTACCTCTTGCCGGGGTCGGG	0.627													---	30	---	---	11	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	7	---	---	5	---					
SGK1	6446	broad.mit.edu	37	6	134493445	134493445	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr6:134493445delT	uc003qen.4	-	7	761	c.672delA	c.(670-672)aaafs	p.K224fs	SGK1_uc003qeo.4_Frame_Shift_Del_p.K319fs|SGK1_uc011ect.2_Frame_Shift_Del_p.K214fs|SGK1_uc011ecu.2_Frame_Shift_Del_p.K180fs|SGK1_uc011ecv.2_Frame_Shift_Del_p.K238fs|SGK1_uc011ecw.2_Frame_Shift_Del_p.K252fs	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	224	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TATTCTCTGGTTTTAAGTCTC	0.363													---	79	---	---	18	---					
GLCCI1	113263	broad.mit.edu	37	7	8126097	8126099	+	In_Frame_Del	DEL	CAG	-	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr7:8126097_8126099delCAG	uc003srk.3	+	7	2132_2134	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	528	Poly-Gln.									endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562													---	587	---	---	7	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	99	---	---	7	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	-	-	rs56192595		TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													---	4	---	---	6	---					
CLEC4GP1	440508	broad.mit.edu	37	19	7853241	7853241	+	RNA	DEL	C	-	-			TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:7853241delC	uc010xjy.1	+	2		c.233delC			CLEC4GP1_uc002mij.2_Non-coding_Transcript|CLEC4GP1_uc002mil.2_Non-coding_Transcript|CLEC4GP1_uc002mim.2_5'Flank					Homo sapiens C-type lectin domain family 4, member G pseudogene 1 (CLEC4GP1), non-coding RNA.																		TGCTCGGCTGCCAGGACCTGC	0.721													---	4	---	---	2	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-BF-A5EO-01A-12D-A27K-08	TCGA-BF-A5EO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e96b85-57e9-4bc8-a9fd-53b2af119501	7072384c-2982-4ce0-bcbf-808de85e63b7	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						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)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	347	---	---	7	---