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
FAM194A	131831	broad.mit.edu	37	3	150421557	150421557	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:150421557C>T	uc003eyg.3	-	0	186	c.129G>A	c.(127-129)gaG>gaA	p.E43E	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	43	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cttcctcctcctcctccacct	0.612000														11			4		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209200545	209200545	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:209200545G>T	uc002vcz.3	+	25	4443	c.4285G>T	c.(4285-4287)Gaa>Taa	p.E1429*	PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.E1373*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1429					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGCCATTGATGAAAGACTTGC	0.303000														40			14		2.48551e-13	2.52771e-13	1	1	0
CKAP2	26586	broad.mit.edu	37	13	53035087	53035087	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:53035087T>C	uc001vgv.2	+	2	409	c.212T>C	c.(211-213)gTg>gCg	p.V71A	CKAP2_uc001vgt.2_Missense_Mutation_p.V70A|CKAP2_uc001vgu.2_Missense_Mutation_p.V70A|CKAP2_uc010tha.1_Missense_Mutation_p.V22A	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	71					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GGGACTAAAGTGCTGAAACTT	0.348000														31			18		0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235590494	235590494	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:235590494C>T	uc010pxr.1	+	5	623	c.500C>T	c.(499-501)tCa>tTa	p.S167L	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.S167L|TBCE_uc001hxa.1_Missense_Mutation_p.S167L|TBCE_uc001hxb.1_Missense_Mutation_p.S54L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	167					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	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;2.56e-05)			CTGTTGTCATCATGGGATGAA	0.348000														19			36		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130834	151130834	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:151130834G>A	uc011eem.1	+	9	1507	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	PLEKHG1_uc011eel.1_Silent_p.L454L|PLEKHG1_uc003qny.1_Silent_p.L414L|PLEKHG1_uc003qnz.2_Silent_p.L414L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	414					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAAAGAGACTGATTCTGGAGA	0.478000														19			12		0	0	1	0	0
CA5B	11238	broad.mit.edu	37	X	15794968	15794968	+	Silent	SNP	A	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:15794968A>G	uc004cxe.3	+	6	867	c.750A>G	c.(748-750)caA>caG	p.Q250Q		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	Homo sapiens carbonic anhydrase VB, mitochondrial (CA5B), nuclear gene encoding mitochondrial protein, mRNA.	250					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TTAAGAAGCAACCAGTAGAGG	0.493000														89			41		0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236306026	236306026	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:236306026C>G	uc001hxq.3	+	0	195	c.104C>G	c.(103-105)cCg>cGg	p.P35R		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	35						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ACGCTGACCCCGGCCGTGCCC	0.716000														6			17		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890516	6890516	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:6890516C>T	uc002knc.3	+	13	4877	c.1666C>T	c.(1666-1668)Ctc>Ttc	p.L556F	ARHGAP28_uc002kne.3_Missense_Mutation_p.L449F|ARHGAP28_uc010wzi.2_Missense_Mutation_p.L431F|ARHGAP28_uc002knf.3_Missense_Mutation_p.L440F	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	431					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CAGGAAGCTGCTCAGGAGGAA	0.483000														15			10		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86800142	86800142	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:86800142G>A	uc002blz.1	+	6	736	c.656G>A	c.(655-657)aGg>aAg	p.R219K		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	219					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGATCCTGAGGCAGTGCTAC	0.547000														21			9		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161155081	161155081	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:161155081C>T	uc003qtm.4	+	12	1754	c.1642C>T	c.(1642-1644)Cca>Tca	p.P548S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	548	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACGACAAATCCAAGAAAACT	0.458000														48			14		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18150990	18150990	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:18150990A>G	uc002gsr.1	-	19	2519	c.2468T>C	c.(2467-2469)cTc>cCc	p.L823P	FLII_uc002gsq.1_Missense_Mutation_p.L694P|FLII_uc010vxn.1_Missense_Mutation_p.L792P|FLII_uc010vxo.1_Missense_Mutation_p.L768P|FLII_uc002gss.1_Missense_Mutation_p.L822P	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	823	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGTGCCCTCGAGGCTGCGGCT	0.706000														18			11		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134991082	134991082	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:134991082G>A	uc004ezh.3	+	12	1668	c.1501G>A	c.(1501-1503)Gat>Aat	p.D501N	SAGE1_uc010nry.1_Missense_Mutation_p.D470N|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	501										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACCCCAAACTGATAAGGTCAT	0.448000														48			35		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50114462	50114462	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:50114462C>T	uc003cyc.3	+	20	3516	c.3268C>T	c.(3268-3270)Ccc>Tcc	p.P1090S	RBM6_uc003cyd.3_Missense_Mutation_p.P568S|RBM6_uc011bdi.2_Missense_Mutation_p.P432S|RBM6_uc003cye.3_Missense_Mutation_p.P568S|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	1090	G-patch.				RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATGAGGGGCCCCAGTGTTGG	0.483000														6			9		0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38379719	38379719	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:38379719G>A	uc003aun.1	-	1	351	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P25S|SOX10_uc010gxj.3_Missense_Mutation_p.P25S|AK098727_uc003aup.3_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	25						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCGCTCCCCGGGGACAGGCAG	0.781000														3			5		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59170276	59170276	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:59170276T>C	uc010dps.1	+	3	904	c.752T>C	c.(751-753)cTt>cCt	p.L251P	CDH20_uc002lif.2_Missense_Mutation_p.L245P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	251	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGGCAGCTTGGAGGATTA	0.498000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			42		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896493	24896493	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:24896493G>A	uc001isb.2	-	10	3106	c.2619C>T	c.(2617-2619)aaC>aaT	p.N873N	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Silent_p.N873N|ARHGAP21_uc010qdc.1_Silent_p.N708N	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	872					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding	p.S873L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTTGAGTTGGGCTGAG	0.358000														43			18		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96166262	96166262	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:96166262G>A	uc003hto.3	-	5	1162	c.809C>T	c.(808-810)tCt>tTt	p.S270F	UNC5C_uc010ilc.2_Missense_Mutation_p.S270F|UNC5C_uc003htq.3_Missense_Mutation_p.S270F	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	270	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTTACACACAGACCACTCCGT	0.522000														13			11		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	RNA	SNP	A	G	G	rs111976783		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:96593000A>G	uc010yug.1	-	26		c.1913T>C			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000														42			7		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384292	2384292	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:2384292G>A	uc002wfy.1	+	8	1220	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	TGM6_uc010gal.1_Missense_Mutation_p.D387N	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	387					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTGGCTCACGATGGCCCCTT	0.617000														59			47		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23619306	23619306	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:23619306G>A	uc002dlx.1	-	11	3429	c.3229C>T	c.(3229-3231)Ccc>Tcc	p.P1077S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	1077	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.H1076D(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTGGCACAGGGATGACTCAGG	0.438000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						31			15		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133547732	133547732	+	Missense_Mutation	SNP	C	T	T	rs149758116	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:133547732C>T	uc002ttp.3	-	12	1330	c.956G>A	c.(955-957)gGg>gAg	p.G319E	NCKAP5_uc002ttq.3_Missense_Mutation_p.G319E	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	319							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATGACAGCCCCCAAGCCAGG	0.507000														23			4		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599432	29599432	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:29599432C>T	uc001usl.4	+	0	685	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	199						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTCTATCCCTCGACTCCC	0.602000														52			10		0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19377618	19377618	+	Silent	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:19377618G>T	uc004czg.4	+	10	1165	c.1020G>T	c.(1018-1020)gtG>gtT	p.V340V	PDHA1_uc004czh.4_Silent_p.V378V|PDHA1_uc011mjc.2_Silent_p.V347V|PDHA1_uc011mjd.2_Silent_p.V309V|PDHA1_uc010nfl.3_Silent_p.V131V	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	340					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	AAATTGATGTGGAAGTGAGGA	0.488000														71			40		5.20006e-24	5.33873e-24	1	1	0
ACAN	176	broad.mit.edu	37	15	89398124	89398124	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:89398124G>A	uc010upo.1	+	11	2682	c.2308G>A	c.(2308-2310)Gaa>Aaa	p.E770K	ACAN_uc010upp.1_Missense_Mutation_p.E770K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	770					cell adhesion		hyaluronic acid binding|sugar binding	p.E770K(3)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCAACAGAGGAAAGTACAGA	0.537000														9			4		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184297663	184297663	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:184297663C>T	uc003foz.3	+	10	2550	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	705	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CACCAAAAGTCGGCCAGTTAT	0.597000														66			24		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424257	31424257	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:31424257C>T	uc010cap.1	+	14	1858	c.1809C>T	c.(1807-1809)gcC>gcT	p.A603A	ITGAD_uc002ebv.1_Silent_p.A602A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	602					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGACCTGGCCGTGGGGGCCC	0.672000														53			22		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765524	7765524	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:7765524G>A	uc001ijs.3	+	8	1140	c.978G>A	c.(976-978)atG>atA	p.M326I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	326	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGTTAAAATGAAACAAGTAA	0.453000														35			24		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231816	21231816	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:21231816G>A	uc002red.3	-	25	8052	c.7924C>T	c.(7924-7926)Cca>Tca	p.P2642S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2642					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.I2641L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACCTGGATGGGATTTTTATA	0.358000														125			43		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501815	28501815	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:28501815C>T	uc003nll.2	+	4	539	c.537C>T	c.(535-537)atC>atT	p.I179I	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.	179					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)	TCCATGACATCCGTTGGAACT	0.512000														94			37		0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104331549	104331549	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:104331549T>C	uc001tkb.1	+	5	925	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.F274L	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	274					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding	p.F274L(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATATTCACAGTTCATAAACTT	0.289000														12			4		0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785495	37785495	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:37785495C>T	uc002yvj.3	+	11	1513	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	459					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TGTCAAAAGCCCCTTGCCGGG	0.632000														15			12		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11584153	11584153	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:11584153C>T	uc002gne.3	+	18	3758	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	DNAH9_uc010coo.3_Silent_p.F524F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1230	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCACAGCCTTCGATGCAGAAC	0.522000														11			4		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156843	146156843	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:146156843G>A	uc003zet.3	-	3	1517	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	ZNF16_uc003zeu.3_Nonsense_Mutation_p.Q444*	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGGAGCTCTGACTAAATGCT	0.488000														54			19		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47243507	47243507	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:47243507C>T	uc002ion.2	+	8	1225	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	B4GALNT2_uc010wlt.1_Missense_Mutation_p.S303F|B4GALNT2_uc010wlu.1_Missense_Mutation_p.S329F	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	389					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTGGCCATATCTCAGGTCACC	0.463000														36			17		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112902	108112902	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:108112902C>T	uc003dxa.1	-	36	5352	c.5295G>A	c.(5293-5295)gaG>gaA	p.E1765E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1765						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTTGGCCTTCTCTTCTGCAT	0.557000														63			16		0	0	1	0	0
SPHK1	8877	broad.mit.edu	37	17	74383656	74383656	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:74383656G>A	uc002jrj.2	+	5	1899	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	SPHK1_uc002jrf.1_Missense_Mutation_p.E382K|SPHK1_uc002jrg.1_Missense_Mutation_p.E331K|SPHK1_uc002jrh.2_Missense_Mutation_p.E396K|SPHK1_uc002jri.2_Missense_Mutation_p.E382K|SPHK1_uc002jrk.3_Missense_Mutation_p.E382K	NM_182965	NP_001136074	Q9NYA1	SPHK1_HUMAN	Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA.	382					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						ACCGCCAGAAGAGCCCTTATG	0.657000														50			8		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603361	31603361	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:31603361C>T	uc003nvb.4	+	23	5625	c.5376C>T	c.(5374-5376)gcC>gcT	p.A1792A	PRRC2A_uc003nvc.4_Silent_p.A1792A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1792	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						CTTCCCAGGCCATTCCTGTAT	0.592000														54			23		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687661	11687661	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:11687661C>T	uc002gne.3	+	40	7934	c.7866C>T	c.(7864-7866)gcC>gcT	p.A2622A	DNAH9_uc010coo.3_Silent_p.A1916A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2622	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCAGATGCCCTGTCCTCTA	0.547000														155			79		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295742	212295742	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:212295742C>T	uc002veg.1	-	20	2669	c.2571G>A	c.(2569-2571)gtG>gtA	p.V857V	ERBB4_uc002veh.1_Silent_p.V857V|ERBB4_uc010zji.1_Silent_p.V847V|ERBB4_uc010zjj.1_Silent_p.V847V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	857	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGTGATTTTCACATGGTTTG	0.423000										TSP Lung(8;0.080)				58			27		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35696432	35696432	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:35696432G>A	uc002xgi.3	-	2	527	c.448C>T	c.(448-450)Cca>Tca	p.P150S	RBL1_uc002xgj.1_Missense_Mutation_p.P150S|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	150					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCTTCATATGGATTTTGAAAT	0.323000														55			19		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4260943	4260943	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:4260943G>A	uc003smx.3	+	39	5913	c.5774G>A	c.(5773-5775)gGa>gAa	p.G1925E	SDK1_uc010kso.3_Missense_Mutation_p.G1181E|SDK1_uc003smy.3_Missense_Mutation_p.G412E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1925	Fibronectin type-III 13.				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)		TGGACTGAGGGACACTCTGGC	0.627000														20			7		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105205672	105205672	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:105205672G>A	uc001ypd.3	+	3	440	c.366G>A	c.(364-366)aaG>aaA	p.K122K	ADSSL1_uc001ype.3_Silent_p.K165K|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	122					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CAGGCCTGAAGGACTGGGAGA	0.642000														5			5		0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656586	656586	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:656586G>A	uc003mtg.3	-	0	379	c.359C>T	c.(358-360)tCg>tTg	p.S120L	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	120										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCCCAGGGACGAGACCAGCTC	0.741000														18			15		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966102	2966102	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:2966102G>A	uc021tns.1	-	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GTCCTTCATGGAGTAGGTATG	0.502000														69			9		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519293	43519293	+	Silent	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:43519293G>T	uc002ovm.1	-	3	1046	c.939C>A	c.(937-939)tcC>tcA	p.S313S	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.S191S|PSG11_uc002ovo.1_Silent_p.S191S	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	313	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCAAGGATGTGGAGCTTTCCT	0.463000														84			59		1.74971e-23	1.79295e-23	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125025711	125025711	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:125025711C>T	uc003yqw.3	+	14	2068	c.1862C>T	c.(1861-1863)tCa>tTa	p.S621L	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	621						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCAAGATTTCACAGGAGGCA	0.483000														66			30		0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562688	22562688	+	Missense_Mutation	SNP	G	A	A	rs142412986	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:22562688G>A	uc002wsm.3	-	1	1377	c.1192C>T	c.(1192-1194)Cac>Tac	p.H398Y	FOXA2_uc002wsn.3_Missense_Mutation_p.H392Y	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	392	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					tggtggtggtggctgtggtgg	0.617000														26			14		0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106717021	106717021	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:106717021G>A	uc003kol.3	-	4	904	c.622C>T	c.(622-624)Cca>Tca	p.P208S		NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	208					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGTATCCTTGGTGTTTGTGCC	0.493000														55			19		0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868414	58868414	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:58868414G>A	uc002qsh.2	-	2	871	c.588C>T	c.(586-588)ggC>ggT	p.G196G	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Silent_p.G196G|ZNF497_uc021vcw.1_Silent_p.G196G|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGAAGGACTTGCCGCAGTCCG	0.682000														9			7		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4318903	4318903	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:4318903C>T	uc002lzy.2	+	9	1147	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	FSD1_uc002maa.2_Missense_Mutation_p.R145C	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	332	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTCAGGTCGTGGGGGACG	0.597000														32			19		0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152785139	152785139	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:152785139G>A	uc001faq.3	+	0	693	c.217G>A	c.(217-219)Ggt>Agt	p.G73S		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	73	Gly-rich.				keratinization			p.G72R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTGGGGGAGGTGGCTGCTG	0.677000														103			57		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100718	139100718	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:139100718G>A	uc010nbi.2	-	11	1991	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	651					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAACCCCGAGGAAGGGTGCGG	0.607000														98			11		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64484036	64484036	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:64484036C>T	uc003jtp.3	-	21	3531	c.2717G>A	c.(2716-2718)gGg>gAg	p.G906E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	906	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAACCAATCCCCAATGAACCA	0.498000														35			44		0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060880	71060880	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:71060880G>A	uc002shg.3	-	2	509	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	154					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTAACTCTGGGATTTGGGCAT	0.443000														46			29		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490663	102490663	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:102490663C>T	uc002tbc.3	+	24	3376	c.2998C>T	c.(2998-3000)Cgt>Tgt	p.R1000C	MAP4K4_uc002tbf.3_Missense_Mutation_p.R953C|MAP4K4_uc002tbd.3_Missense_Mutation_p.R892C|MAP4K4_uc010yvy.2_Missense_Mutation_p.R915C|MAP4K4_uc002tbh.3_Missense_Mutation_p.R837C|MAP4K4_uc002tbg.3_Missense_Mutation_p.R919C|MAP4K4_uc002tbi.3_Missense_Mutation_p.R722C|MAP4K4_uc010yvz.2_Missense_Mutation_p.R959C|MAP4K4_uc002tbk.3_Missense_Mutation_p.R374C|MAP4K4_uc021vlq.1_Missense_Mutation_p.R105C|MAP4K4_uc002tbl.3_Missense_Mutation_p.R105C	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	919	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1000C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCGGAGATTCGTAAATACAA	0.473000														11			11		0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153668801	153668801	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:153668801C>T	uc004fli.4	+	5	1009	c.667C>T	c.(667-669)Cca>Tca	p.P223S	GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	223					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCAAGAGCCCATATTTATA	0.572000														74			44		0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036268	177036268	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:177036268C>T	uc002ukt.1	+	2	741	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	189					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GGACAAGAGCCCGCCAGGCCC	0.647000														29			14		0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30696710	30696710	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:30696710C>T	uc010csz.3	+	12	1773	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	ZNF207_uc002hhj.4_Nonsense_Mutation_p.Q473*|ZNF207_uc002hhh.4_Nonsense_Mutation_p.Q457*|ZNF207_uc002hhi.4_Nonsense_Mutation_p.Q442*|ZNF207_uc002hhk.1_Nonsense_Mutation_p.Q473*|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	457						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCCCCCTTACCAGGGTGGGCC	0.542000														24			13		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006212	161006212	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:161006212G>A	uc003qtl.3	-	26	4275	c.4155C>T	c.(4153-4155)gtC>gtT	p.V1385V		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3893	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGCAGTCCTGGACCCCAGTGC	0.433000														97			50		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327154	62327154	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:62327154C>T	uc001ntm.1	-	9	1457	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	EEF1G_uc010rlw.1_Silent_p.K487K	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	437	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGATGTTCACTTGAAGATCT	0.547000														17			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027532	37027532	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:37027532G>A	uc004ddl.2	+	0	1101	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	350										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCGAGACTGGAGTGTCCCAT	0.637000														85			39		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55521827	55521827	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:55521827G>A	uc001cyf.2	+	5	1323	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	321	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTTCCGGGACGATGCCTGCCT	0.746000														6			5		0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903895	11903895	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:11903895C>G	uc002wnz.3	+	3	1509	c.1150C>G	c.(1150-1152)Cga>Gga	p.R384G	BTBD3_uc002wny.3_Missense_Mutation_p.R323G|BTBD3_uc002woa.3_Missense_Mutation_p.R323G|BTBD3_uc010zrf.2_Missense_Mutation_p.R233G|BTBD3_uc010zrg.2_Missense_Mutation_p.R233G|BTBD3_uc010zrh.2_Missense_Mutation_p.R233G	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	384										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTGTGCCTATCGAAGCAACCA	0.527000														24			14		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18890295	18890295	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:18890295C>T	uc021qvx.1	-	2	202	c.11_splice	c.e2+1	p.R4_splice	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|CAPZA3_uc001rdy.3_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	4					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R4T(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAATGGATATCTCATTTCCAT	0.408000														37			21		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30129374	30129374	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:30129374G>A	uc002dws.3	-	3	754	c.654C>T	c.(652-654)aaC>aaT	p.N218N	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.N104N|MAPK3_uc002dwv.4_Silent_p.N218N|MAPK3_uc002dwt.3_Silent_p.N218N	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	218	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CTACCTTGGAGTTCAGCATGA	0.622000														18			13		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303220	117303220	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:117303220C>T	uc001prh.1	-	30	5209	c.5207_splice	c.e30-1	p.G1736_splice		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1676					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGTCATCTCCTGGGGAAAG	0.458000														53			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181517	140181517	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:140181517G>A	uc003lhf.2	+	0	735	c.735G>A	c.(733-735)acG>acA	p.T245T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.T245T	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	260	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAGAGGACGATCTATAAAG	0.448000														16			25		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207527784	207527784	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:207527784G>A	uc002vbr.1	-	10	1593	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	492						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GAACCATTTTGGGGATGTCCT	0.507000														40			23		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485609	121485609	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:121485609G>A	uc001pxx.3	+	40	5578	c.5449G>A	c.(5449-5451)Gag>Aag	p.E1817K	SORL1_uc010rzp.1_Missense_Mutation_p.E663K|SORL1_uc010rzq.1_Missense_Mutation_p.E432K	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1817	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TACATCCTATGAGATTTCTGC	0.512000														32			10		0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27614277	27614277	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:27614277C>T	uc003xgc.3	-	3	240	c.127G>A	c.(127-129)Gac>Aac	p.D43N	CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Intron|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Intron|CCDC25_uc003xgf.1_Non-coding_Transcript	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA.	43										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GAGAGTTTGTCCACATGAAAC	0.368000														35			13		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156651326	156651326	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:156651326G>A	uc003iov.3	+	10	2552	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	GUCY1A3_uc010iqd.3_Silent_p.K671K|GUCY1A3_uc003iow.3_Silent_p.K672K|GUCY1A3_uc003iox.3_Silent_p.K672K|GUCY1A3_uc010iqe.3_Silent_p.K437K|GUCY1A3_uc003ioy.3_Silent_p.K672K|GUCY1A3_uc003ioz.3_Silent_p.K437K|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.K672K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	672					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCTTCCAAAAGAAAGATGTGG	0.403000														33			24		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379252	23379252	+	Silent	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:23379252T>A	uc002dln.3	+	4	1028	c.852T>A	c.(850-852)ctT>ctA	p.L284L		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	284					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)	AGAAGGCACTTCCTTCGGCCA	0.502000														102			59		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23524290	23524290	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:23524290G>A	uc001wil.3	-	2	734	c.474C>T	c.(472-474)acC>acT	p.T158T	CDH24_uc010akf.3_Silent_p.T158T|CDH24_uc001win.3_Silent_p.T158T	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	158	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCTCGGGCACGGTGGCATGGT	0.572000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			23		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999942	3999944	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:3999942_3999944TC>CT	uc002fxe.3	-	9	1787_1789	c.1723_1725GA>AG	c.(1723-1725)gga>AG	p.G575del	ZZEF1_uc002fxk.1_Missense_Mutation_p.G575del	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	575							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGATTCAGTTCCGGTAGAAAAA	0.360000														123			10		0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27059222	27059222	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:27059222G>A	uc001isx.3	-	4	754	c.530C>T	c.(529-531)cCt>cTt	p.P177L	ABI1_uc001itb.3_Missense_Mutation_p.P194L|ABI1_uc001ite.3_Missense_Mutation_p.P172L|ABI1_uc010qdh.2_Missense_Mutation_p.P172L|ABI1_uc010qdi.2_Missense_Mutation_p.P113L|ABI1_uc001itc.3_Missense_Mutation_p.P177L|ABI1_uc001isy.3_Missense_Mutation_p.P177L|ABI1_uc001itd.3_Missense_Mutation_p.P177L|ABI1_uc010qdj.2_Missense_Mutation_p.P177L|ABI1_uc001ita.3_Missense_Mutation_p.P177L|ABI1_uc010qdk.2_Missense_Mutation_p.P177L|ABI1_uc001isz.3_Missense_Mutation_p.P172L|ABI1_uc010qdg.2_Missense_Mutation_p.P43L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	177				P -> L (in Ref. 2; AAC39757).	actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTGAGTAGGAGGATTTGT	0.398000														48			22		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286406	152286406	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:152286406C>T	uc001ezu.1	-	2	992	c.956G>A	c.(955-957)aGa>aAa	p.R319K	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	319	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R319T(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATGGTTTCTGGAAGCCGA	0.567000									Ichthyosis					237			111		0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47431915	47431916	+	Silent	DNP	CC	TT	TT			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:47431915_47431916CC>TT	uc009ylq.3	+	1	446_447	c.270_271CC>TT	c.(268-273)ccccta>ccTTta	p.90_91PL>PL	SLC39A13_uc001nfd.3_Silent_p.90_91PL>PL|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Silent_p.90_91PL>PL	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA.	90					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TTGTCATTCCCCTAGAGATGGG	0.634000														38			20		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134182351	134182351	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:134182351C>T	uc009zdf.3	+	13	1756	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	466					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTCCGGAGGCCGCCTCCGTGC	0.612000														26			11		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:40944419G>A	uc002xkg.3	-	11	2267	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_uc010ggj.3_Missense_Mutation_p.L695F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L695L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGGAGAGAGAGGAGGGTTC	0.498000														38			24		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389397	4389397	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:4389397C>T	uc010qye.2	-	0	220	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)|p.L42F(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGCTGTTCCCAAGAAGGG	0.527000														24			9		0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368064	37368064	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:37368064T>A	uc002oex.3	+	2	713	c.332T>A	c.(331-333)aTt>aAt	p.I111N	ZNF345_uc021utn.1_Missense_Mutation_p.I111N|ZNF345_uc002oey.4_Missense_Mutation_p.I111N|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.I111N|ZNF345_uc021utp.1_Missense_Mutation_p.I111N|ZNF345_uc021utq.1_Missense_Mutation_p.I111N	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	111					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.R110I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCAAAGAATTCATACTGGT	0.423000														23			18		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196774764	196774764	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:196774764C>T	uc002utj.4	-	24	4192	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1364	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G1364G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGAATTTTCCCAAAGCCAA	0.358000														26			7		0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368890	37368890	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:37368890C>T	uc002oex.3	+	2	1539	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	ZNF345_uc021utn.1_Silent_p.I386I|ZNF345_uc002oey.4_Silent_p.I386I|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Silent_p.I386I|ZNF345_uc021utp.1_Silent_p.I386I|ZNF345_uc021utq.1_Silent_p.I386I	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	386					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAAACTTATCCAACACCAGC	0.423000														36			15		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245220	166245220	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:166245220G>A	uc002udc.3	+	26	5194	c.4904G>A	c.(4903-4905)cGa>cAa	p.R1635Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1635Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1635Q|SCN2A_uc021vry.1_Missense_Mutation_p.R135Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1635					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1635Q(3)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGATTGGCCGAATCCTACGT	0.468000														70			26		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962953	2962953	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:2962953G>A	uc003smv.3	-	15	2289	c.1955C>T	c.(1954-1956)tCg>tTg	p.S652L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	652					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.S645L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAGGTGACCGAAGGCCGGAA	0.652000			Mis		DLBCL									54			20		0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119678367	119678367	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:119678367C>T	uc004esw.3	-	7	1543	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	CUL4B_uc010nqq.3_Missense_Mutation_p.R68Q|CUL4B_uc004esv.3_Missense_Mutation_p.R351Q	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	369					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.R369Q(2)|p.R351Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAAAGGCTTCGAAGTAAACT	0.373000														62			24		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546638	11546638	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:11546638C>T	uc010shk.1	-	2	409	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G125V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTGCCTCCTTGTGGGGG	0.612000														567			25		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201506	81201507	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:81201506_81201507GG>TA	uc002bfw.1	+	12	1916_1917	c.1656_1657GG>TA	c.(1654-1659)gtgggt>gtTAgt	p.G553S	KIAA1199_uc010unn.1_Missense_Mutation_p.G553S	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	553										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGCAGCTGGTGGGTCAGTACCC	0.545000														29			13		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2799265	2799265	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:2799265A>C	uc001lwn.3	+	14	1900	c.1792A>C	c.(1792-1794)Aag>Cag	p.K598Q	KCNQ1_uc009ydp.1_Missense_Mutation_p.K382Q|KCNQ1_uc001lwo.3_Missense_Mutation_p.K471Q	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	598	Subunits assembly domain.				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGTAGAAGACAAGGTAGGCTC	0.617000														42			16		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129098233	129098233	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:129098233C>T	uc011koy.2	+	9	1256	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	FAM40B_uc003vow.3_Missense_Mutation_p.P406S|FAM40B_uc011koz.2_5'UTR	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	406										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCACAGGCACCCCTCTCTGC	0.602000														12			6		0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266236	225266236	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:225266236G>A	uc002vnx.3	-	0	476	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM124B_uc002vnw.3_Missense_Mutation_p.R84C	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	84							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCCAGGACGCGAAATAGCCTA	0.547000														23			13		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154033515	154033515	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:154033515G>A	uc001fdw.3	-	18	2723	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.S884F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	884						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGGCAAGTTGGAAATTTCCTA	0.428000														74			59		0	0	1	0	0
FAM216B	144809	broad.mit.edu	37	13	43358195	43358195	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:43358195G>A	uc010tfk.2	+	2	116	c.-7_splice	c.e2-1		FAM216B_uc010tfl.2_5'UTR	NM_182508	NP_872314	Q8N7L0	CM030_HUMAN	Homo sapiens chromosome 13 open reading frame 30 (C13orf30), mRNA.																		TGGAGGTATAGGATAAACGAT	0.348000														39			14		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995948	38995948	+	Splice_Site	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:38995948G>T	uc002oit.3	+	53	8441	c.8311_splice	c.e53-1	p.I2771_splice	RYR1_uc002oiu.3_Splice_Site_p.I2771_splice|RYR1_uc002oiv.1_Splice_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2771	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCATCTCTAGATCCAGAACA	0.607000														2			3		0.115264	0.115264	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201060863	201060863	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:201060863G>A	uc001gvv.3	-	4	826	c.599C>T	c.(598-600)gCc>gTc	p.A200V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	200					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.A200A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACCAGCAGGGCGATGTGAAA	0.557000														17			26		0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25601247	25601247	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:25601247G>A	uc003abo.1	+	4	460	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	130	Beta/gamma crystallin 'Greek key' 3.			E -> D (in Ref. 5; CAA33242).	visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						CCGCAAGATGGAGATAGTGGA	0.577000														30			6		0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1339973	1339973	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:1339973C>A	uc002fsl.3	-	1	868	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S	CRK_uc002fsm.3_Intron	NM_016823	NP_058431	P46108	CRK_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA.	240	SH3 2.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	SH2 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATAACCCTGGCATATATGGGC	0.572000														76			38		3.54561e-26	3.6471e-26	1	1	0
BDP1	55814	broad.mit.edu	37	5	70806888	70806888	+	Silent	SNP	A	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:70806888A>G	uc003kbp.1	+	16	4232	c.3969A>G	c.(3967-3969)ctA>ctG	p.L1323L	BDP1_uc003kbn.1_Silent_p.L1323L|BDP1_uc003kbo.3_Silent_p.L1323L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1323	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAACGAGCTAGAGGAGACCA	0.418000														33			26		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086055	100086055	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:100086055C>T	uc003uvd.1	+	3	870	c.711C>T	c.(709-711)ccC>ccT	p.P237P	NYAP1_uc003uve.1_Silent_p.P19P	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	237																	TGGCTGGGCCCCCTCTTGGGG	0.642000														45			35		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419893	180419893	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:180419893C>T	uc003mmr.3	+	1	314	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	44					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCCCTCTTTCCTGAGACCAG	0.542000														13			45		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55070058	55070058	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:55070058C>T	uc001cxm.2	+	11	1368	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ACOT11_uc001cxj.2_Missense_Mutation_p.L276F|ACOT11_uc001cxl.2_Missense_Mutation_p.L398F	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	398	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTTGAAGATGCTTGTGGCCAA	0.542000														40			9		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975785	44975785	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:44975785G>A	uc001wvn.3	-	0	715	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	136						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TATCCTGTACGGCTGGTCTGC	0.418000														100			49		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					21			25		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4511006	4511006	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:4511006C>T	uc001lza.2	+	0	898	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCAATCCTATCATATATGGAG	0.453000														98			45		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906358	906358	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:906358C>T	uc001ace.3	+	4	739	c.704C>T	c.(703-705)cCg>cTg	p.P235L	PLEKHN1_uc001acd.3_Missense_Mutation_p.P195L|PLEKHN1_uc001acf.3_Missense_Mutation_p.P195L	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	235										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTCGGGGGGCCGCGGCGCTGC	0.741000														19			5		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115066	119115066	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:119115066C>T	uc004bjn.3	+	15	4427	c.4046C>T	c.(4045-4047)cCa>cTa	p.P1349L	PAPPA_uc011lxq.2_Missense_Mutation_p.P724L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1349	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCCTCGCTCCACCCCCTGTG	0.582000														28			17		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993279	28993279	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:28993279G>A	uc002kwr.2	+	14	3036	c.2901G>A	c.(2899-2901)ggG>ggA	p.G967G	DSG4_uc002kwq.2_Silent_p.G948G	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	948					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E966D(2)|p.R967S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATATTCAAGGGAATATTTGTG	0.423000														101			41		0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149826472	149826472	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:149826472G>A	uc004fef.4	+	10	1308	c.1232G>A	c.(1231-1233)tGg>tAg	p.W411*	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Nonsense_Mutation_p.W374*|MTM1_uc011mxz.2_Nonsense_Mutation_p.W296*|MTM1_uc010nte.3_Nonsense_Mutation_p.W279*	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	411	Myotubularin phosphatase.		W -> C (in XCNM).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAAAGAATGGATAAGTTTT	0.368000														39			17		0	0	1	0	0
LYZ	4069	broad.mit.edu	37	12	69743970	69743970	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:69743970G>A	uc001suw.2	+	1	274	c.219G>A	c.(217-219)ggG>ggA	p.G73G		NM_000239	NP_000230	P61626	LYSC_HUMAN	Homo sapiens lysozyme (LYZ), mRNA.	73					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CTGATTATGGGATATTTCAGA	0.418000														32			28		0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140325754	140325754	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:140325754C>T	uc004cmu.3	+	7	900	c.765C>T	c.(763-765)gtC>gtT	p.V255V	NOXA1_uc004cmv.3_Silent_p.V255V|NOXA1_uc010nch.3_Silent_p.V199V	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	255					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		AGACAGAGGTCGGTGCTGACC	0.672000														57			4		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129950641	129950641	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:129950641C>T	uc003qbr.3	-	4	732	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ARHGAP18_uc011ebw.2_Missense_Mutation_p.E215K|ARHGAP18_uc021zfe.1_Missense_Mutation_p.E212K	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	215					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)		ATCAGCTTCTCTTCACCAACA	0.458000														68			34		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977889	46977889	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:46977889C>T	uc001cpx.3	+	3	887	c.872C>T	c.(871-873)cCg>cTg	p.P291L	DMBX1_uc001cpw.3_Missense_Mutation_p.P286L	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	291					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P291P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTAGGGGGTCCGGCCCCTGCT	0.657000														32			15		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195605959	195605959	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:195605959G>A	uc003fvu.1	-	6	1518	c.975C>T	c.(973-975)acC>acT	p.T325T	TNK2_uc003fvs.1_Silent_p.T357T|TNK2_uc003fvt.1_Silent_p.T388T|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Silent_p.T155T|TNK2_uc010hzx.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	325	Protein kinase.			TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTGGCCGTAGGTGAACATTT	0.632000														96			40		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16977203	16977203	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:16977203G>A	uc002ney.2	+	12	1761	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	SIN3B_uc002nez.2_Missense_Mutation_p.E548K|SIN3B_uc010xpi.1_Missense_Mutation_p.E138K	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	580	Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAAGGAAGAGGAGTGGCGGGA	0.607000														42			21		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90050985	90050985	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:90050985G>A	uc003kju.3	+	54	11659	c.11563G>A	c.(11563-11565)Gaa>Aaa	p.E3855K	GPR98_uc003kjt.3_Missense_Mutation_p.E1561K|GPR98_uc003kjv.3_Missense_Mutation_p.E1455K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3855	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.E3855K(4)		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)		AGCTCATGCCGAAGTTTCCAT	0.313000														16			8		0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53112065	53112065	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:53112065G>A	uc004drw.3	+	0	524	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	TSPYL2_uc004drv.3_Missense_Mutation_p.E129K|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	129					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGGGAGCCTGGAAATCGATTT	0.637000														21			5		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100122	110100122	+	Silent	SNP	C	T	T	rs147178230		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:110100122C>T	uc003ymz.4	+	0	470	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	127						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACATAGCAATCTGTCACCCCA	0.418000														35			17		0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852291	20852291	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:20852291C>T	uc021xmt.1	-	3	284	c.164_splice	c.e3-1	p.N55_splice	KCNIP4_uc003gqe.2_Splice_Site_p.D38_splice|KCNIP4_uc003gqf.1_Splice_Site_p.D34_splice|KCNIP4_uc003gqg.1_Splice_Site|KCNIP4_uc003gqh.1_Splice_Site_p.D30_splice|KCNIP4_uc003gqi.1_Splice_Site|KCNIP4_uc021xmu.1_Splice_Site_p.D21_splice|KCNIP4_uc021xms.1_Splice_Site_p.N18_splice	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	55						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCCACGCTGTCTGTGGAGGAA	0.498000														6			8		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40858189	40858189	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:40858189G>A	uc010wgu.2	-	14	1729	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	EZH1_uc002iaz.3_Missense_Mutation_p.P559S|EZH1_uc002iba.3_Missense_Mutation_p.P550S|EZH1_uc010wgt.2_Missense_Mutation_p.P489S|EZH1_uc010wgv.2_Missense_Mutation_p.P519S|EZH1_uc010wgw.2_Missense_Mutation_p.P420S|EZH1_uc010cyp.2_Missense_Mutation_p.P460S|EZH1_uc010cyq.2_Missense_Mutation_p.P476S|EZH1_uc010cyo.1_Missense_Mutation_p.P222S	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	559	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CGACAGCCAGGGAAACGATTC	0.507000														51			15		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73115924	73115924	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:73115924T>C	uc001jrr.4	+	4	754	c.697T>C	c.(697-699)Ttc>Ctc	p.F233L	SLC29A3_uc001jrs.4_Missense_Mutation_p.F233L|SLC29A3_uc010qjq.2_Missense_Mutation_p.F87L|SLC29A3_uc001jrt.4_Missense_Mutation_p.F27L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	233					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CGCCCTGGCCTTCTTCCTGAC	0.607000														41			17		0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477476	28477476	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:28477476C>T	uc009vte.3	-	2	392	c.57G>A	c.(55-57)ccG>ccA	p.P19P	PTAFR_uc021ojz.1_Silent_p.P19P|PTAFR_uc001bpl.3_Silent_p.P19P|PTAFR_uc001bpm.4_Silent_p.P19P|PTAFR_uc021oka.1_Silent_p.P19P	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	19					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAAACAATCGGGAAGAGAG	0.512000														22			14		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79939655	79939655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:79939655G>A	uc004edt.3	-	36	4350	c.4087C>T	c.(4087-4089)Caa>Taa	p.Q1363*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.Q1192*|BRWD3_uc004edq.3_Nonsense_Mutation_p.Q959*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.Q959*|BRWD3_uc004edr.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004eds.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edo.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edu.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004edv.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edw.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edx.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edy.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edz.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004eea.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.Q959*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1363	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATAACATCTTGATAATCCTAC	0.358000														27			6		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176719072	176719072	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:176719072G>C	uc003mfr.4	+	21	6514	c.6376G>C	c.(6376-6378)Gat>Cat	p.D2126H	NSD1_uc003mft.4_Missense_Mutation_p.D1857H|NSD1_uc011dfx.2_Missense_Mutation_p.D1774H|NSD1_uc021yip.1_5'UTR	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2126					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAGTTGTGGGGATGCTGGCCA	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				19			19		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49936668	49936668	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:49936668G>A	uc003cxy.4	-	1	1523	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	MST1R_uc011bdc.2_Missense_Mutation_p.T420I|MST1R_uc011bdd.2_Missense_Mutation_p.T420I|MST1R_uc011bde.1_Missense_Mutation_p.T420I|MST1R_uc011bdf.1_Intron|MST1R_uc011bdg.2_Missense_Mutation_p.T420I	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	420	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCGGCAGCTGGTGTTGGGGCT	0.592000														30			35		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19425358	19425358	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:19425358C>T	uc022btq.1	-	12	1792	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	MAP3K15_uc004czj.2_Missense_Mutation_p.D33N|MAP3K15_uc004czk.2_Missense_Mutation_p.D73N	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	598							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCAGAATTATCATGGACATAA	0.338000														33			12		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74008111	74008111	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:74008111G>A	uc010wss.1	-	18	2727	c.2499C>T	c.(2497-2499)tcC>tcT	p.S833S	EVPL_uc002jqi.2_Silent_p.S811S|EVPL_uc010wst.1_Silent_p.S281S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	811	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCAGGGCCTGGGAGAGGTGGG	0.637000														12			5		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975799	152975799	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:152975799C>T	uc021ozo.1	+	0	303	c.303C>T	c.(301-303)gtC>gtT	p.V101V	SPRR3_uc001fax.4_Silent_p.V101V|SPRR3_uc001faz.4_Silent_p.V101V|SPRR3_uc001fay.2_Silent_p.V93V	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	101	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTACCAAGGTCCCTGAGCCAG	0.582000														38			32		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143713800	143713800	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:143713800G>A	uc010fnm.3	+	6	680	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	KYNU_uc002tvk.3_Missense_Mutation_p.R155Q|KYNU_uc002tvl.3_Missense_Mutation_p.R155Q	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	155					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACGCCAAAACGATATAAAATT	0.308000														23			11		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440569	78440569	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:78440569G>A	uc001ozl.4	-	21	3721	c.3258C>T	c.(3256-3258)ttC>ttT	p.F1086F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1086					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCATGAGGTTGAAGGGGATGG	0.572000														24			12		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287391	16287391	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:16287391G>A	uc010gqp.2	-	0	547	c.495C>T	c.(493-495)ttC>ttT	p.F165F	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	165										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCGGCTCCATGAAAGCGCTGT	0.592000														172			23		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528231	157528231	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:157528231C>T	uc003qqp.3	+	18	5917	c.5917C>T	c.(5917-5919)Cca>Tca	p.P1973S	ARID1B_uc003qqo.3_Missense_Mutation_p.P1986S|ARID1B_uc003qqn.3_Missense_Mutation_p.P2026S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1973					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1972*(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACGAGCATCCAGAGAGAAA	0.557000														59			21		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161132162	161132162	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:161132162T>C	uc003qtm.4	+	3	458	c.346T>C	c.(346-348)Tcc>Ccc	p.S116P	PLG_uc021zhr.1_Missense_Mutation_p.S116P	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	116	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGGACGATGTCCAAAACAAA	0.443000														30			17		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403845	20403845	+	Missense_Mutation	SNP	C	T	T	rs146809169		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:20403845C>T	uc001vwj.2	+	0	79	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAAATGAATCGATGGTGTCT	0.348000														193			45		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:18809378G>A	uc001bax.3	+	0	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	635						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)		GCGTGCCAAGGAAATCTTCGT	0.711000														9			8		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55026876	55026876	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:55026876G>A	uc002xxp.2	+	6	868	c.643_splice	c.e6-1	p.G215_splice	CASS4_uc002xxq.4_Splice_Site_p.G215_splice|CASS4_uc010zze.1_Splice_Site_p.G161_splice|CASS4_uc002xxr.2_Splice_Site_p.G215_splice|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	215					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTCCCACAGGGGCAGGGTGTT	0.502000														37			24		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364054	22364054	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:22364054G>A	uc002nqs.1	-	2	783	c.465C>T	c.(463-465)caC>caT	p.H155H		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTGAGATAGGTGTGAAAGCA	0.318000														44			20		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734581	52734581	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:52734581G>A	uc001wzq.3	+	0	151	c.49G>A	c.(49-51)Ggc>Agc	p.G17S		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	17						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGTGGAAAAAGGCAACTCGGC	0.692000														11			7		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56585388	56585388	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:56585388C>T	uc001xch.3	+	0	296	c.10C>T	c.(10-12)Cct>Tct	p.P4S		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	4					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CATGTTTTCCCCTGGCCAGGA	0.726000														5			4		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:65527628G>A	uc003xvj.2	-	3	1216	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000														58			26		0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462247	112462247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:112462247C>T	uc011kms.1	-	5	975	c.848G>A	c.(847-849)tGg>tAg	p.W283*	C7orf60_uc003vgo.1_Nonsense_Mutation_p.W257*	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	257										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GCAGCAAATCCATCGCTGGTA	0.408000														29			19		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169528523	169528523	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:169528523C>T	uc001ggg.1	-	4	743	c.598G>A	c.(598-600)Gag>Aag	p.E200K	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	200	F5/8 type A 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCCCACCCTCAGTTAGGGTC	0.448000														23			33		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4774808	4774808	+	Silent	SNP	G	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:4774808G>C	uc002cxj.2	-	5	811	c.516C>G	c.(514-516)ccC>ccG	p.P172P	ANKS3_uc002cxi.2_Silent_p.P99P|ANKS3_uc021tcj.1_Silent_p.P43P|ANKS3_uc021tck.1_Silent_p.P65P|ANKS3_uc002cxk.3_Silent_p.P43P|ANKS3_uc010uxs.2_Silent_p.P99P|ANKS3_uc002cxm.3_Intron	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	172										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTTCCATCAAGGGAGTAAATC	0.463000														25			6		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037939	148037939	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:148037939C>T	uc004fcp.3	+	10	2843	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	AFF2_uc004fcq.3_Silent_p.I778I|AFF2_uc004fcr.3_Silent_p.I749I|AFF2_uc011mxb.2_Silent_p.I753I|AFF2_uc004fcs.3_Silent_p.I755I|AFF2_uc011mxc.2_Silent_p.I429I	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	788					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTGAAATCCTGTCCCCTC	0.468000														65			37		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18375751	18375751	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:18375751G>A	uc010ebn.2	-	2	2815	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	KIAA1683_uc002nin.2_Missense_Mutation_p.P867S|KIAA1683_uc010xqe.1_Missense_Mutation_p.P821S	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	867						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTGGCAGGGCACCGCCTGG	0.647000														25			24		0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42304946	42304946	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:42304946G>A	uc021wwk.1	-	1	304	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CCK_uc003cld.1_Silent_p.G59G|CCK_uc011azk.1_Silent_p.G59G	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	59					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CCAGCAGGGCGCCCAGGTGCG	0.667000														46			32		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436547	6436547	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:6436547G>A	uc001qnr.3	+	14	1946	c.1798G>A	c.(1798-1800)Ggg>Agg	p.G600R	PLEKHG6_uc010sew.2_Missense_Mutation_p.G600R|PLEKHG6_uc010sex.2_Missense_Mutation_p.G568R	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	600					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T599M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CACCCCCACGGGGTCCCGCTC	0.627000														115			60		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3007569	3007569	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:3007569C>T	uc022brz.1	+	6	999	c.863C>T	c.(862-864)tCc>tTc	p.S288F	ARSF_uc004cre.2_Missense_Mutation_p.S288F|ARSF_uc004crf.2_Missense_Mutation_p.S288F	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	288						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCTTTTTCTCCTTTCTTCAC	0.433000														92			31		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196388349	196388349	+	Missense_Mutation	SNP	C	G	G	rs147587398		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:196388349C>G	uc003fwv.3	+	2	1939	c.1835C>G	c.(1834-1836)aCg>aGg	p.T612R		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	612						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CATGGGCAGACGGTGGCCGAC	0.637000														76			35		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4579795	4579795	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:4579795C>A	uc002fyi.4	-	6	936	c.710G>T	c.(709-711)tGt>tTt	p.C237F	PELP1_uc010vsf.2_Missense_Mutation_p.C90F	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	237					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ATAACACTCACAGGCCAACTG	0.582000														27			7		1.26484e-09	1.28149e-09	1	1	0
FAM169B	283777	broad.mit.edu	37	15	98984307	98984307	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:98984307C>T	uc002buk.1	-	5	702	c.452G>A	c.(451-453)gGc>gAc	p.G151D		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	151										large_intestine(3)|lung(3)|urinary_tract(1)	7						TACCTTGCTGCCGTCTCCAGG	0.557000														27			18		0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3759741	3759741	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:3759741G>A	uc002lyp.1	-	1	699	c.522C>T	c.(520-522)ccC>ccT	p.P174P	MRPL54_uc002lyq.4_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	174					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCAGCCAGGGTTCCGGGG	0.657000														22			17		0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2096347	2096348	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:2096347_2096348GG>AA	uc002col.1	-	1	178_179	c.159_160CC>TT	c.(157-162)agcccc>agTTcc	p.P54S	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	54					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CGCTTCACGGGGCTGTGGCTTT	0.624000								Base excision repair (BER), DNA glycosylases						48			26		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829804	160829804	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:160829804G>A	uc003qti.3	+	3	735	c.708G>A	c.(706-708)tcG>tcA	p.S236S	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	236						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.S236*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TAGTAGGTTCGAAACAAAGGA	0.403000														26			19		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662424	113662424	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:113662424G>T	uc003ynu.3	-	18	3318	c.3159C>A	c.(3157-3159)aaC>aaA	p.N1053K	CSMD3_uc003yns.3_Missense_Mutation_p.N325K|CSMD3_uc003ynt.3_Missense_Mutation_p.N1013K|CSMD3_uc011lhx.2_Missense_Mutation_p.N949K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1053	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACCAGTGGTTTTTTTCGC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				51			30		6.05902e-23	6.19699e-23	1	1	0
FLNC	2318	broad.mit.edu	37	7	128484784	128484784	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:128484784G>A	uc003vnz.4	+	20	3474	c.3265G>A	c.(3265-3267)Ggg>Agg	p.G1089R	FLNC_uc003voa.4_Missense_Mutation_p.G1089R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1089					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGACACCAAGGGGGCTGGCAC	0.632000														45			18		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306935	14306936	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:14306935_14306936GG>AA	uc021war.1	-	0	1217_1218	c.1217_1218CC>TT	c.(1216-1218)ccc>cTT	p.P406L	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P406L|FLRT3_uc002wow.2_Missense_Mutation_p.P406L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	406	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTTTTCTTGAGGGACTCCCTGT	0.455000														132			47		0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1540589	1540589	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:1540589G>A	uc004cpx.2	-	8	1344	c.1207C>T	c.(1207-1209)Cac>Tac	p.H403Y	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.H387Y|ASMTL_uc011mhe.2_Missense_Mutation_p.H327Y|ASMTL_uc011mhf.2_Missense_Mutation_p.H345Y	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	403	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACGCCCTGTGGTGCTGGTTT	0.507000														90			35		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177235	7177235	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:7177235C>T	uc001qsj.3	+	14	2066	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	C1S_uc001qsk.3_Silent_p.F449F|C1S_uc001qsl.3_Silent_p.F449F|C1S_uc009zfr.3_Silent_p.F282F|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	449	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTAAAAACTTCCCCTGGCAAG	0.483000														62			23		0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	113999239	113999239	+	Silent	SNP	T	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:113999239T>G	uc010tkc.2	-	4	598	c.501A>C	c.(499-501)atA>atC	p.I167I	GRTP1_uc001vtn.3_Silent_p.I167I|GRTP1_uc010tkb.2_Silent_p.I89I	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	167	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CATTATTTGTTATAAGAATCA	0.353000														52			19		0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11990493	11990494	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:11990493_11990494GG>AA	uc010bux.3	-	3	854_855	c.171_172CC>TT	c.(169-174)atccca>atTTca	p.P58S	GSPT1_uc002dbu.3_Missense_Mutation_p.P195S|GSPT1_uc002dbt.3_Missense_Mutation_p.P196S	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	58					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTAGGTTTTGGGATTTCCTCTT	0.485000														8			5		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056388	17056388	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:17056388C>T	uc002nfb.3	-	21	2937	c.2905G>A	c.(2905-2907)Gat>Aat	p.D969N		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	922						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGACGTGATCCACCCCGATG	0.592000														50			16		0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64957105	64957105	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:64957105G>A	uc004dwf.3	+	9	1354	c.1156G>A	c.(1156-1158)Gct>Act	p.A386T		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	386					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCAGAGCGAGGCTGAAAAGCT	0.567000			T	ALK	ALCL									11			9		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662777	40662777	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:40662777C>T	uc011aor.2	+	4	2754	c.2543C>T	c.(2542-2544)cCa>cTa	p.P848L	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.P848L|TNRC6B_uc003ayo.3_Missense_Mutation_p.P652L	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	848	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCACCACCTCCAGGCAACGTT	0.617000														29			9		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859437	14859437	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:14859437G>A	uc003zlm.3	-	4	1191	c.375C>T	c.(373-375)gtC>gtT	p.V125V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	125					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGAGATAGACCCACAGGA	0.403000														53			49		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5974946	5974946	+	Splice_Site	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:5974946T>C	uc002wmk.3	+	19	2928	c.2551_splice	c.e19-1	p.V851_splice	MCM8_uc002wmi.3_Splice_Site_p.V811_splice|MCM8_uc002wmj.3_Splice_Site_p.V795_splice|MCM8_uc002wml.3_Splice_Site_p.V811_splice|MCM8_uc010gbp.3_Splice_Site_p.V764_splice|MCM8_uc002wmm.3_Splice_Site_p.V349_splice	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	811					DNA strand elongation involved in DNA replication|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 transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTCTTCCAGGTTGCTGATTTT	0.303000														23			14		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927555	119927555	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:119927555C>T	uc001ehr.1	+	3	572	c.440C>T	c.(439-441)tCc>tTc	p.S147F	HAO2_uc001ehq.1_Missense_Mutation_p.S147F	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	147	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGGGTAGAATCCCTAGGTTTC	0.463000														77			31		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54891739	54891739	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:54891739C>T	uc002rxu.3	+	32	6819	c.6570C>T	c.(6568-6570)gcC>gcT	p.A2190A	SPTBN1_uc010you.2_Silent_p.A180A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	2190					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCTTACCAGCCAGAACCCAGG	0.582000														59			38		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101096500	101096500	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:101096500G>A	uc011mrk.1	-	5	631	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	91	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.P91H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACAGAGTAGGGCGCAGTAAAA	0.473000														48			29		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2937962	2937962	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:2937962C>T	uc002klo.3	-	6	1135	c.896G>A	c.(895-897)cGg>cAg	p.R299Q		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	299					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGGAATTACCCGAAAATGAGT	0.413000														73			26		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581341	234581341	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:234581341G>A	uc002vus.3	+	0	798	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R254Q	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	257					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R254Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGTTGTTGCGAACGGACTTT	0.443000														190			85		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854655	88854655	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:88854655G>A	uc010kbz.3	-	1	469	c.339C>T	c.(337-339)ccC>ccT	p.P113P	CNR1_uc011dzr.2_Silent_p.P113P|CNR1_uc011dzs.2_Silent_p.P113P|CNR1_uc003pmq.4_Silent_p.P113P|CNR1_uc011dzt.2_Silent_p.P113P|CNR1_uc010kca.3_Silent_p.P80P|CNR1_uc021zco.1_Silent_p.P113P	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	113					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)	GCTGCTGGCTGGGGTTCAGGA	0.552000														24			18		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881390	69881390	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:69881390C>T	uc001jnm.4	+	2	380	c.195C>T	c.(193-195)gcC>gcT	p.A65A	MYPN_uc001jnl.1_Silent_p.A65A|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Silent_p.A65A|MYPN_uc001jnp.1_Silent_p.A65A|MYPN_uc009xps.3_Silent_p.A65A|MYPN_uc009xpt.3_Silent_p.A65A|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	65	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATCTTTCAGCCTTTCTGAGCC	0.522000														25			15		0	0	1	0	0
LAGE3	8270	broad.mit.edu	37	X	153706645	153706645	+	Silent	SNP	T	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:153706645T>G	uc004fln.1	-	1	636	c.294A>C	c.(292-294)acA>acC	p.T98T		NM_006014	NP_006005	Q14657	LAGE3_HUMAN	Homo sapiens L antigen family, member 3 (LAGE3), mRNA.	98							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCACTCACTGTGAGATCCT	0.617000														64			40		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24958885	24958885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:24958885G>A	uc002dnb.3	-	13	1252	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	ARHGAP17_uc002dna.3_Nonsense_Mutation_p.Q114*|ARHGAP17_uc002dnc.3_Nonsense_Mutation_p.Q387*|ARHGAP17_uc010vcf.2_Nonsense_Mutation_p.Q208*	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	387	Rho-GAP.				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)		TCGCTGGTCTGAGCAAGCTTT	0.453000														35			19		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031307	56031307	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:56031307C>T	uc010spq.2	+	0	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ATTATGATCCCCTTCTCTCTG	0.557000														39			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076539	9076539	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:9076539G>A	uc002mkp.3	-	2	11111	c.10907C>T	c.(10906-10908)aCt>aTt	p.T3636I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3637	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						TCCAATGACAGTTATACGGCC	0.448000														31			15		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3446837	3446837	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:3446837C>T	uc002fvr.2	-	4	719	c.397G>A	c.(397-399)Gag>Aag	p.E133K	TRPV3_uc010vrh.1_Missense_Mutation_p.E117K|TRPV3_uc010vri.1_Missense_Mutation_p.E88K|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E133K|TRPV3_uc010vrj.1_Missense_Mutation_p.E117K|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E117K|TRPV3_uc002fvu.3_Missense_Mutation_p.E133K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	133						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ACCAACTCCTCCACGCAGCCC	0.587000														75			47		0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91063862	91063862	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:91063862C>T	uc010mqj.3	+	2	559	c.59C>T	c.(58-60)gCt>gTt	p.A20V	SPIN1_uc004apy.3_Missense_Mutation_p.A20V|SPIN1_uc004apz.3_Missense_Mutation_p.A20V|SPIN1_uc010mqk.3_Missense_Mutation_p.A20V	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	20					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACAGGCCATGCTGGAGTATCT	0.388000														31			3		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8396274	8396274	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:8396274C>T	uc002glm.3	-	32	4374	c.4278G>A	c.(4276-4278)aaG>aaA	p.K1426K	MYH10_uc002gll.3_Silent_p.K1395K|MYH10_uc010cnx.3_Silent_p.K1404K	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1395					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCAGAAGCTTCTTCTTGGCTT	0.522000														78			29		0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119328329	119328329	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:119328329G>A	uc003ecu.3	+	3	534	c.468G>A	c.(466-468)tcG>tcA	p.S156S	PLA1A_uc003ecv.3_Silent_p.S140S|PLA1A_uc011bjc.2_5'UTR|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	156					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTGTGTCGGAATCCTCAA	0.582000														89			33		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223828	67223828	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:67223828G>A	uc001olo.3	+	2	533	c.456G>A	c.(454-456)cgG>cgA	p.R152R	CABP4_uc001oln.3_Silent_p.R47R	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	152	EF-hand 1.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	p.R152Q(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGCCACCGGGAGCTGGGTG	0.637000														52			23		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465432	77465432	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:77465432C>T	uc002ffc.4	-	2	674	c.255G>A	c.(253-255)agG>agA	p.R85R	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATCGCTTTTTCCTGCCGTTGT	0.478000														150			108		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130792756	130792756	+	RNA	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:130792756G>A	uc002tpz.2	-	7		c.2573C>T								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		GAGATTGACGGCTGTATCACC	0.473000														24			8		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449255	104449255	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:104449255G>A	uc004bbp.2	-	1	1528	c.927C>T	c.(925-927)agC>agT	p.S309S	GRIN3A_uc004bbq.1_Silent_p.S309S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	309					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)	TCTGTAGGAAGCTCAAGAGGT	0.483000														19			19		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109190187	109190187	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:109190187C>T	uc003pss.4	+	3	626	c.452C>T	c.(451-453)cCt>cTt	p.P151L	ARMC2_uc011eao.2_5'UTR	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	151							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGATCCCTTCCTCCCTCCGAC	0.512000														54			20		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850273	73850273	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:73850273C>T	uc003xzb.3	+	2	3271	c.2683C>T	c.(2683-2685)Cat>Tat	p.H895Y		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	895					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)			CCCAGAAATTCATTCCAACCC	0.398000														72			36		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994698	11994698	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:11994698C>T	uc003wvc.1	-	0	1572	c.1572G>A	c.(1570-1572)agG>agA	p.R524R	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	524					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CAAGCAGAGCCCTCTTGCTGT	0.582000														71			15		0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835011	27835011	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:27835011G>A	uc003njx.3	-	0	349	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	99	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CAGTGCCCTTGGTCTGCACCA	0.582000														143			55		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769190	37769190	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:37769190C>T	uc003asq.4	-	2	3171	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K	ELFN2_uc021wph.1_Silent_p.K795K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	795						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGAACTGGACCTTCTTGCGCA	0.622000														63			27		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207621695	207621696	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:207621695_207621696CC>TT	uc002vbs.3	-	3	394_395	c.339_340GG>AA	c.(337-342)ggggca>ggAAca	p.A114T	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Missense_Mutation_p.A114T|MDH1B_uc021vvm.1_Missense_Mutation_p.A16T	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	114					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)		TCTATATGTGCCCCCAGGTTCT	0.441000														52			20		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015347	110015347	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:110015347C>T	uc010ywt.1	+	3	1247	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	416							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GATCCCCGAGCCGCGGCCAGG	0.627000														18			8		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639546	7639546	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:7639546G>A	uc001qsz.3	-	8	2215	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CD163_uc001qta.3_Missense_Mutation_p.S696L|CD163_uc009zfw.2_Missense_Mutation_p.S729L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	696					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S696L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCCAAAGACGATGAATTGCA	0.438000														24			8		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20123506	20123506	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:20123506G>A	uc002wru.3	+	8	979	c.865G>A	c.(865-867)Gag>Aag	p.E289K	C20orf26_uc010gcw.2_Missense_Mutation_p.E243K|C20orf26_uc010zse.2_Missense_Mutation_p.E289K|C20orf26_uc010zsf.1_Missense_Mutation_p.E289K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	289										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)		CAAAGATGCTGAGCTCAGGAG	0.418000														7			3		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030268	44030268	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:44030268G>A	uc002lcb.1	+	4	676	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	RNF165_uc002lby.1_Missense_Mutation_p.E142K|RNF165_uc010dnn.1_Missense_Mutation_p.E5K	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	209							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GGTCGTCCATGAAATCCGAAA	0.517000														44			33		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584510	189584510	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:189584510G>A	uc003fry.2	+	5	895	c.806G>A	c.(805-807)gGg>gAg	p.G269E	TP63_uc003frx.2_Missense_Mutation_p.G269E|TP63_uc003frz.2_Missense_Mutation_p.G269E|TP63_uc010hzc.1_Missense_Mutation_p.G269E|TP63_uc003fsa.2_Missense_Mutation_p.G175E|TP63_uc003fsb.2_Missense_Mutation_p.G175E|TP63_uc003fsc.2_Missense_Mutation_p.G175E|TP63_uc003fsd.2_Missense_Mutation_p.G175E|TP63_uc021xir.1_Missense_Mutation_p.G175E|TP63_uc010hzd.1_Missense_Mutation_p.G90E|TP63_uc003fse.1_Missense_Mutation_p.G150E	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	269					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.G269V(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)		CGAGTAGAGGGGAACAGCCAT	0.408000										HNSCC(45;0.13)				39			22		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689253	43689253	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:43689253C>T	uc002ovu.3	-	1	242	c.111G>A	c.(109-111)acG>acA	p.T37T	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.T37T	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	37	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGGCTTCAATCGTGACTTGAG	0.468000														133			57		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327156	62327156	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:62327156T>C	uc001ntm.1	-	9	1455	c.1309A>G	c.(1309-1311)Aag>Gag	p.K437E	EEF1G_uc010rlw.1_Missense_Mutation_p.K487E	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	437	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GATGTTCACTTGAAGATCTTG	0.547000														18			7		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415509	210415509	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:210415509G>A	uc001hhy.3	+	3	1077	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	SERTAD4_uc009xcw.3_Missense_Mutation_p.E300K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	300							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCTCAGCCACGAACCTGTGGG	0.398000														20			32		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506360	11506360	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:11506360C>T	uc001qzw.1	-	3	711	c.674G>A	c.(673-675)gGa>gAa	p.G225E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	287	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTGCCTCCTTGTGGGGG	0.612000														236			30		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69028074	69028074	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:69028074G>A	uc003xxv.1	+	25	3260	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1078					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATGAGAAGGGAGAAAGAAAC	0.393000														51			33		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073822	67073822	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:67073822C>T	uc002aqf.3	+	3	2363	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Silent_p.F219F	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	480	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCCGGCAGTTCATCACCTCCT	0.731000														10			7		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117529513	117529513	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:117529513C>T	uc001egv.1	+	8	2701	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	855						Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TACTGCAGCTCCCACTGGTGT	0.617000														96			37		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586232	7586232	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:7586232C>T	uc010sge.2	-	2	209	c.183G>A	c.(181-183)gtG>gtA	p.V61V	CD163L1_uc001qsy.3_Silent_p.V61V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	61	SRCR 1.					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						ATTTCACCTCCACTGTCCCAG	0.483000														69			36		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194636	29194636	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:29194636G>A	uc003xhm.3	-	3	1564	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	DUSP4_uc003xhl.3_Silent_p.F273F	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	364	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AGCTGAAGACGAACTGCGAGG	0.701000														13			3		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139269000	139269000	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:139269000C>T	uc003yuy.3	-	4	471	c.300G>A	c.(298-300)atG>atA	p.M100I	FAM135B_uc003yux.3_Missense_Mutation_p.M1I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	100										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)			GTGCGTCTTCCATCTGCAAAA	0.393000										HNSCC(54;0.14)				15			9		0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104856	88104856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:88104856G>A	uc003dqs.3	-	3	783	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	CGGBP1_uc003dqt.3_Nonsense_Mutation_p.Q91*|CGGBP1_uc003dqu.3_Nonsense_Mutation_p.Q91*|CGGBP1_uc021xbe.1_Nonsense_Mutation_p.Q91*	NM_001008390	NP_003654	Q9UFW8	CGBP1_HUMAN	Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CTGTTGCACTGAAGAGATGCA	0.468000														47			26		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182069	34182069	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:34182069C>T	uc001bxm.1	-	19	3211	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CSMD2_uc001bxn.1_Missense_Mutation_p.E972K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	972	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCCACTTTCCAGGTGGAAG	0.577000														11			13		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51664814	51664814	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:51664814G>T	uc011bdt.2	+	5	817	c.692G>T	c.(691-693)gGt>gTt	p.G231V	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	231						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)		GAAGAGAAGGGTGGCACCCAT	0.517000														20			11		3.86212e-05	3.88374e-05	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89348012	89348012	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:89348012G>A	uc002fmx.1	-	8	5399	c.4938C>T	c.(4936-4938)gaC>gaT	p.D1646D	ANKRD11_uc002fmy.1_Silent_p.D1646D|ANKRD11_uc002fnc.1_Silent_p.D1646D|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.D1603D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1646	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAAATGGAGGGTCCAGCCCCG	0.567000														70			80		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556123	76556123	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:76556123C>T	uc002fex.1	+	15	2872	c.2733C>T	c.(2731-2733)gtC>gtT	p.V911V	CNTNAP4_uc002feu.1_Silent_p.V907V|CNTNAP4_uc002fev.1_Silent_p.V772V|CNTNAP4_uc010chb.1_Silent_p.V835V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	908	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGGCATGTCCTGTTACAGC	0.463000														26			15		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783091	164783091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:164783091C>T	uc003fei.3	-	6	828	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	255	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCATGTTTTCCAGGATAAAT	0.338000										HNSCC(35;0.089)				35			7		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875372	219875372	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:219875372C>T	uc002vjl.1	-	25	4288	c.4204G>A	c.(4204-4206)Gga>Aga	p.G1402R		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1402						integral to membrane	structural molecule activity	p.Q1401K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGCCCACTCCCTGGAAGTGG	0.602000														18			5		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24192166	24192166	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:24192166G>A	uc002dmd.3	+	12	1647	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	PRKCB_uc002dme.3_Missense_Mutation_p.D484N	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	484	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAAGATTGCCGATTTTGGCAT	0.468000														67			29		0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883678	74883678	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:74883678C>T	uc002aye.3	+	5	1269	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	ARID3B_uc002ayd.3_Silent_p.S356S|ARID3B_uc010bjs.1_Silent_p.S61S	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	356	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCTTCTCTCCCCACCCAAGA	0.642000														88			44		0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236170	40236170	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:40236170G>A	uc001ceb.1	-	0	851	c.758C>T	c.(757-759)gCt>gTt	p.A253V	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	253					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGGGGGGAAAGCCCCCACCTC	0.522000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			22		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169340516	169340516	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:169340516G>A	uc021xuh.1	-	17	2657	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	DDX60L_uc003irq.4_Silent_p.I849I|DDX60L_uc003irr.1_Silent_p.I849I|DDX60L_uc003irs.1_Intron	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	849	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAGCAACAGGATTTCAAAAC	0.358000														1			2		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29609361	29609361	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:29609361C>T	uc001bru.3	+	11	2171	c.2042C>T	c.(2041-2043)aCc>aTc	p.T681I	PTPRU_uc009vtq.3_Missense_Mutation_p.T681I|PTPRU_uc009vtr.3_Missense_Mutation_p.T681I|PTPRU_uc001brw.3_Missense_Mutation_p.T681I	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	681					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATGCCCTTTACCGTGGGTGAC	0.622000														57			29		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492378	73492378	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:73492378C>T	uc010wsa.2	+	22	3291	c.3099C>T	c.(3097-3099)ccC>ccT	p.P1033P	KIAA0195_uc002jnz.4_Silent_p.P1023P|KIAA0195_uc010wsb.2_Silent_p.P663P|KIAA0195_uc002job.4_Silent_p.P31P	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1023					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.T1033I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTGGATCCCCTGTACCCAT	0.632000														42			23		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102737122	102737122	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:102737122G>A	uc001phk.3	-	7	1063	c.966C>T	c.(964-966)tcC>tcT	p.S322S		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	323	Hemopexin-like 1.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTGGCCATAAGGAAGAAATTA	0.358000														7			5		0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931922	102931922	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:102931922C>T	uc022cbw.1	-	0	34	c.34G>A	c.(34-36)Gga>Aga	p.G12R	MORF4L2_uc004ekw.3_Missense_Mutation_p.G12R|MORF4L2_uc004ela.3_Missense_Mutation_p.G12R|MORF4L2_uc004elb.3_Missense_Mutation_p.G12R|MORF4L2_uc004ekx.3_Missense_Mutation_p.G12R|MORF4L2_uc004eky.3_Missense_Mutation_p.G12R|MORF4L2_uc010nos.3_Missense_Mutation_p.G12R|MORF4L2_uc004ekz.3_Missense_Mutation_p.G12R|MORF4L2_uc011mry.2_Missense_Mutation_p.G12R|MORF4L2_uc011mrz.2_Missense_Mutation_p.G12R|MORF4L2_uc004elc.3_Missense_Mutation_p.G12R|MORF4L2_uc004ele.3_Missense_Mutation_p.G12R|MORF4L2_uc004elf.3_Missense_Mutation_p.G12R|MORF4L2_uc011msa.2_Missense_Mutation_p.G12R|MORF4L2_uc011msb.2_Missense_Mutation_p.G12R|MORF4L2_uc011msc.2_Missense_Mutation_p.G12R|MORF4L2_uc011msd.2_Missense_Mutation_p.G12R|MORF4L2_uc004eld.3_Missense_Mutation_p.G12R	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	12					DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GATTGCTGTCCACGAGGTTGA	0.403000														115			44		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48256147	48256147	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:48256147G>A	uc002lev.3	+	5	2687	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N	MAPK4_uc010xdm.2_Missense_Mutation_p.D352N|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	563					cell cycle		ATP binding|MAP kinase activity	p.D563H(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TAAACTGGGCGACCTCAATGG	0.672000														17			5		0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020401	90020401	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:90020401C>T	uc002bnz.2	-	7	1173	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	RHCG_uc002boa.2_Non-coding_Transcript	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	383					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CGGTCCAGTCCCCGTTGAAAC	0.562000														75			33		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127824173	127824173	+	Silent	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:127824173G>T	uc001ljk.2	-	4	818	c.405C>A	c.(403-405)ctC>ctA	p.L135L	ADAM12_uc010qul.1_Silent_p.L132L|ADAM12_uc001ljm.3_Silent_p.L135L|ADAM12_uc001ljn.3_Silent_p.L132L|ADAM12_uc001ljl.4_Silent_p.L132L	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	135					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AACACGTGCTGAGACTGACTG	0.488000														15			15		2.94398e-08	2.97712e-08	1	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	T	T	rs113761247	byFrequency	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:32725559C>T	uc003obz.2	-	3	831	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000														20			3		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52416420	52416420	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:52416420C>T	uc011bef.2	+	49	8151	c.7890C>T	c.(7888-7890)ctC>ctT	p.L2630L	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2630	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGTCCTGCTCAAGGCGGGCC	0.582000														65			58		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805668	35805669	+	Splice_Site	DNP	GT	AA	AA	rs5814		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:35805668_35805669GT>AA	uc003zyd.3	+	13	2047	c.2047_splice	c.e13+1	p.K683_splice	NPR2_uc010mlb.3_Splice_Site_p.K659_splice	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	683	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTCTATGCCAGTGAGGCCCACC	0.525000														40			33		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850120	38850120	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:38850120G>A	uc002oih.4	+	13	1594	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	CATSPERG_uc002oig.4_Missense_Mutation_p.E463K|CATSPERG_uc002oif.4_Missense_Mutation_p.E143K|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	503					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.E503K(1)|p.Q502*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTCTAACAAGGAAAACTTCAT	0.537000														32			12		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757077	56757077	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:56757077C>T	uc010rjp.2	+	0	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAAATGTCTTCTAGTGCAGGA	0.428000														72			32		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105037	123105037	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:123105037T>G	uc003vkn.3	-	9	2185	c.1608A>C	c.(1606-1608)gaA>gaC	p.E536D	IQUB_uc003vko.3_Missense_Mutation_p.E536D|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.E536D	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	536										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATTCTAGAATTTCCTGAGTTA	0.318000														68			36		0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38003905	38003905	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:38003905C>T	uc003xkv.1	-	3	631	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	123	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCACGACCTCCAGCCGGAAC	0.547000														42			20		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110576366	110576366	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:110576366C>T	uc004epd.3	-	3	1136	c.964G>A	c.(964-966)Gat>Aat	p.D322N	DCX_uc011msv.2_Missense_Mutation_p.D322N|DCX_uc004epe.3_Missense_Mutation_p.D241N|DCX_uc004epf.3_Missense_Mutation_p.D241N|DCX_uc004epg.3_Missense_Mutation_p.D241N	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	322	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCAAAGAAATCATGGAGACAA	0.398000														26			11		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729062	8729062	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:8729062T>G	uc002cyz.3	+	4	869	c.593T>G	c.(592-594)cTg>cGg	p.L198R	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	198							methyltransferase activity			large_intestine(5)|lung(4)	9						GACTACATCCTGTTCCGACAG	0.647000														33			30		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444798	63444798	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:63444798C>T	uc011mou.2	-	9	1948	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	MTMR8_uc004dvq.2_Missense_Mutation_p.D236N|MTMR8_uc004dvr.2_Missense_Mutation_p.D245N	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCACCAAAATCGATTAACAGC	0.502000														26			6		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49166461	49166461	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:49166461G>A	uc003cwe.3	-	12	2022	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	LAMB2_uc003cwf.1_Nonsense_Mutation_p.R575*	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	575	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R575*(2)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGCCCTCGGGTGTCCTCA	0.627000														27			27		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193907	60193907	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:60193907G>A	uc001xen.1	-	2	1704	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	RTN1_uc001xem.1_Missense_Mutation_p.R79W	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	499					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTCTCCTCCCGGATGGCATCC	0.711000														8			4		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148982	34148982	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:34148982C>T	uc004ddg.3	-	0	1466	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	472										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCTGAGTCTCGGGAGGCTGC	0.607000														57			27		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854623	4854623	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:4854623G>A	uc001qne.1	+	4	981	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	297						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						TCGGATTCAGGAGGACCGCAC	0.478000														29			19		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156982	156982	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:156982G>A	uc003jak.2	+	8	1425	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	459					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCAGCAGCTGGAGCACCTCCG	0.657000														2			7		0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124532329	124532329	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:124532329T>C	uc003vlm.3	-	5	716	c.115A>G	c.(115-117)Aaa>Gaa	p.K39E	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	39	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.K39E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCAGTTCCTTTGCTTAGATAT	0.378000														120			54		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056850	9056850	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:9056850G>A	uc002mkp.3	-	2	30800	c.30596C>T	c.(30595-30597)tCc>tTc	p.S10199F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10201	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						ATCAGTCTTGGAACTCTGTAA	0.458000														39			14		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064803	42064803	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:42064803G>A	uc002yyq.1	-	2	893	c.441C>T	c.(439-441)atC>atT	p.I147I	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.	147	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGAGGAGGGGATAATGCACT	0.532000														35			23		0	0	1	0	0
C2orf70	339778	broad.mit.edu	37	2	26802210	26802210	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:26802210C>T	uc010eyn.3	+	3	510	c.510C>T	c.(508-510)ccC>ccT	p.P170P		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	170										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GACTAGCCCCCGAGAACCTGA	0.537000														29			16		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754067	167754067	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:167754067G>A	uc003qvs.1	+	2	767	c.679G>A	c.(679-681)Gac>Aac	p.D227N		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	227	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AATTTTCAGTGACTTTAAAGA	0.398000														60			16		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497317	149497317	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:149497317G>A	uc003lro.3	-	21	3470	c.3001C>T	c.(3001-3003)Ccc>Tcc	p.P1001S	PDGFRB_uc010jhd.3_Missense_Mutation_p.P840S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1001					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTCCAGGGGAGATCGGAGG	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									48			25		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83497758	83497758	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:83497758C>T	uc001paj.2	-	12	1788	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	DLG2_uc001pai.2_Silent_p.T392T|DLG2_uc010rsy.1_Silent_p.T462T|DLG2_uc021qof.1_Silent_p.T534T|DLG2_uc010rsz.1_Silent_p.T495T|DLG2_uc010rta.1_Silent_p.T495T|DLG2_uc001pak.2_Silent_p.T600T|DLG2_uc010rtb.1_Silent_p.T462T|DLG2_uc001pal.1_Silent_p.T495T|DLG2_uc001pam.2_Silent_p.T534T	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	495	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTGCTATAATCGTCACTGTCT	0.453000														28			12		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460390	107460390	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:107460390C>T	uc002tdq.3	-	1	163	c.44G>A	c.(43-45)gGa>gAa	p.G15E	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G15E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G15E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	15					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517000														26			16		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487242	31487242	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:31487242C>T	uc003ajl.2	+	9	1474	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P	SMTN_uc003ajk.2_Silent_p.P411P|SMTN_uc003ajm.2_Silent_p.P411P|SMTN_uc011ale.2_Silent_p.P465P|SMTN_uc011alf.2_Silent_p.P467P|SMTN_uc003ajn.2_Silent_p.P403P|SMTN_uc011alg.2_5'UTR|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	411					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAAGCTGCCCCCAGGAGGAGG	0.697000														7			7		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703350	60703350	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:60703350C>T	uc001nqi.3	+	10	2239	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	TMEM132A_uc001nqj.3_Silent_p.S681S	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	681	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCCCTCTCCCTATGGCTGT	0.622000														102			39		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410852	23410852	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:23410852C>T	uc004dal.4	+	2	1225	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	406	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGCTGCAATTCCTGTATTGCA	0.458000														54			33		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459497	56459497	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:56459497G>A	uc002qmh.3	+	0	300	c.229G>A	c.(229-231)Gag>Aag	p.E77K	NLRP8_uc010etg.3_Missense_Mutation_p.E77K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	77	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGACCAGGTCGAGACAGCCAG	0.532000														21			10		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7070920	7070920	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:7070920C>T	uc001mfb.1	+	5	2465	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	714					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTATCACTTTCCCTGATGGTT	0.358000														57			32		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1486953	1486953	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:1486953C>T	uc002ltb.1	-	7	1029	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	PCSK4_uc002lta.2_Missense_Mutation_p.G135S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	323	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		GTGGTGCTGCCCACGGAAAGC	0.672000														68			19		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198969	86198969	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:86198969C>T	uc001taf.1	-	1	1158	c.819G>A	c.(817-819)ctG>ctA	p.L273L		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	273					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.R272*(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTAATATTTCAGTCGTTCTT	0.403000														55			30		0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73887210	73887210	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:73887210G>A	uc002jpx.3	-	5	1240	c.1204C>T	c.(1204-1206)Ccg>Tcg	p.P402S		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	402	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCAGTTGCGGGTAGGAGACG	0.677000														57			23		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43903181	43903181	+	Splice_Site	SNP	A	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:43903181A>G	uc001zsf.3	-	14	3385	c.3307_splice	c.e14-1	p.V1103_splice	STRC_uc010bdl.3_Intron|STRC_uc001zse.3_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1103					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACCATCTTTAACCTGCATGAG	0.502000														71			18		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685780	100685780	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:100685780C>T	uc003uxp.1	+	2	11136	c.11083C>T	c.(11083-11085)Cca>Tca	p.P3695S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3695	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGCACTCCATTAACAAC	0.522000														144			58		0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378612	130378613	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:130378612_130378613GG>AA	uc003qbt.3	+	8	905_906	c.729_730GG>AA	c.(727-732)gcggtg>gcAAtg	p.V244M	L3MBTL3_uc003qbu.3_Missense_Mutation_p.V219M	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	244					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGGAGAAAGCGGTGGCAGTGCC	0.525000														14			6		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632595	48632595	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:48632595C>T	uc002ird.3	+	15	2301	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	SPATA20_uc002irc.3_Silent_p.I371I|SPATA20_uc002ire.3_Silent_p.I660I|SPATA20_uc002irf.3_Silent_p.I704I|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	704					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGGTCAGATCGTGATCTGTG	0.592000														22			10		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879399	37879399	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:37879399G>A	uc010efk.1	+	4	559	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	ZNF527_uc002ogf.3_Missense_Mutation_p.V118M|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCATGCAAGTGACAGCTGT	0.408000														48			14		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576655	158576655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:158576655C>T	uc010pio.2	+	0	427	c.427C>T	c.(427-429)Cag>Tag	p.Q143*		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTCTGTGCCCAGCTGGTCAT	0.498000														27			45		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8396297	8396297	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:8396297C>T	uc002glm.3	-	32	4351	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	MYH10_uc002gll.3_Missense_Mutation_p.E1388K|MYH10_uc010cnx.3_Missense_Mutation_p.E1397K	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1388					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCAGACTTTCAATTGTTCCC	0.488000														75			31		0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179956363	179956363	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:179956363C>T	uc003mlx.3	+	1	436	c.87C>T	c.(85-87)tcC>tcT	p.S29S	CNOT6_uc010jld.3_Silent_p.S29S|CNOT6_uc010jle.3_Silent_p.S29S	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	29					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GAAAGAAATCCCACTGGGCAG	0.398000														21			12		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641114	57641114	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:57641114C>T	uc002qny.3	+	3	1427	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	USP29_uc021vci.1_Silent_p.V357V	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	357					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAAAAAAGTCATTTCAGCAG	0.373000														53			27		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464712	2464712	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:2464712A>C	uc002wge.1	-	5	1383	c.895T>G	c.(895-897)Tgc>Ggc	p.C299G	ZNF343_uc010gao.1_Missense_Mutation_p.C299G|ZNF343_uc002wgd.1_Missense_Mutation_p.C209G	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V298L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACTCACTGCACACATAAGGC	0.488000														42			18		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77221367	77221367	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:77221367G>A	uc010xfg.2	+	7	2412	c.1959_splice	c.e7+1	p.P653_splice	NFATC1_uc002lnc.1_Splice_Site_p.P653_splice|NFATC1_uc010xff.1_Splice_Site_p.R625_splice|NFATC1_uc002lnd.3_Splice_Site_p.P653_splice|NFATC1_uc002lne.3_Splice_Site_p.P181_splice|NFATC1_uc010xfh.2_Splice_Site_p.P653_splice|NFATC1_uc010xfi.1_Splice_Site_p.P640_splice|NFATC1_uc010xfj.2_Splice_Site_p.P181_splice|NFATC1_uc002lnf.3_Splice_Site_p.P640_splice|NFATC1_uc002lng.3_Splice_Site_p.P640_splice|NFATC1_uc010xfk.2_Splice_Site_p.P640_splice	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	653					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTGCAAGCCGGTGAGTGCCTT	0.632000														34			8		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109365414	109365414	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:109365414T>C	uc002tem.4	+	8	1228	c.1102T>C	c.(1102-1104)Ttt>Ctt	p.F368L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	368					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAGCAAGATTTTTTAAAAGA	0.338000														120			80		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44949363	44949363	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:44949363C>T	uc001ztx.3	-	3	830	c.799G>A	c.(799-801)Gac>Aac	p.D267N	SPG11_uc010ueh.2_Missense_Mutation_p.D267N|SPG11_uc010uei.2_Missense_Mutation_p.D267N|SPG11_uc001zua.1_Missense_Mutation_p.D267N	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	267					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)		ACATCGAGGTCTTGAGAAACT	0.403000														22			19		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98586570	98586570	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:98586570C>T	uc003upp.3	+	61	9793	c.9584C>T	c.(9583-9585)tCg>tTg	p.S3195L	TRRAP_uc011kis.2_Missense_Mutation_p.S3166L|TRRAP_uc003upr.3_Missense_Mutation_p.S2883L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3195	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAGCAAATCGAGGAAATAC	0.502000														18			8		0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928729	58928729	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:58928729C>T	uc002qsp.3	+	3	1296	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CTTCAGTGTTCTGTCTACCCT	0.438000														44			21		0	0	1	0	0
COPZ1	22818	broad.mit.edu	37	12	54741790	54741790	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:54741790C>T	uc001sfs.1	+	6	439	c.402C>T	c.(400-402)atC>atT	p.I134I	COPZ1_uc001sft.2_Silent_p.I83I|COPZ1_uc009znm.1_Silent_p.I142I|COPZ1_uc010sot.1_Silent_p.I111I	NM_016057	NP_057141	P61923	COPZ1_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA.	134					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						GCAGGGTGATCCTAGAGAGTG	0.522000														18			19		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675168	3675168	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:3675168G>A	uc002wja.3	-	11	2956	c.2956C>T	c.(2956-2958)Cac>Tac	p.H986Y	SIGLEC1_uc002wiz.4_Missense_Mutation_p.H986Y|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	986	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGTGTGACGTGGCGTGGGGCA	0.662000														13			3		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107708574	107708574	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:107708574C>T	uc010ljo.1	-	18	2417	c.2333G>A	c.(2332-2334)gGa>gAa	p.G778E	LAMB4_uc003vey.2_Missense_Mutation_p.G778E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	778	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCAGCTGGATCCGACTGAGCC	0.552000														51			26		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791283	237791283	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:237791283G>A	uc001hyl.1	+	40	6463	c.6343G>A	c.(6343-6345)Gac>Aac	p.D2115N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2115	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCCGTGGAGGACACCATCAA	0.532000														20			30		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018229	23018229	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:23018229G>A	uc004daj.3	+	0	152	c.55G>A	c.(55-57)Ggg>Agg	p.G19R		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	19						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGAGACCTTGGGGCCAGCTG	0.637000														15			11		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14181658	14181658	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:14181658G>A	uc003wwq.3	-	2	950	c.290C>T	c.(289-291)tCt>tTt	p.S97F	SGCZ_uc010lss.3_Intron	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	84					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TAGAAACTCAGATATACCTTC	0.348000														39			18		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39525628	39525628	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:39525628G>A	uc003xni.3	+	13	1493	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G456S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGCATTGAATGGCCGTTTGTG	0.408000														94			44		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671516	49671516	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:49671516G>A	uc002pmw.3	+	5	557	c.449_splice	c.e5-1	p.G150_splice	TRPM4_uc010emu.3_Splice_Site_p.G150_splice|TRPM4_uc010yak.2_Splice_Site|TRPM4_uc002pmx.3_Splice_Site|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	150					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGTCTGTGTAGGAGCCTGGAT	0.612000														62			35		0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104979	88104979	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:88104979G>A	uc003dqs.3	-	3	660	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	CGGBP1_uc003dqt.3_Silent_p.L50L|CGGBP1_uc003dqu.3_Silent_p.L50L|CGGBP1_uc021xbe.1_Silent_p.L50L	NM_001008390	NP_003654	Q9UFW8	CGBP1_HUMAN	Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		ACATGATTCAGAACCACATTG	0.458000														70			38		0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101502996	101502996	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:101502996C>T	uc001kqd.4	+	3	428	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	CUTC_uc010qpk.2_Missense_Mutation_p.R94C|CUTC_uc001kqe.4_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA.	94					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTATTCAGATCGTGAAATTGA	0.433000														55			49		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178941917	178941917	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:178941917G>T	uc003fjk.3	+	14	2393	c.2236G>T	c.(2236-2238)Gat>Tat	p.D746Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	746					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGATTTCATGGATGCTCTACA	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				39			17		3.32936e-07	3.36053e-07	1	1	0
HGD	3081	broad.mit.edu	37	3	120360533	120360533	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:120360533G>A	uc003edw.3	-	10	1242	c.782C>T	c.(781-783)tCc>tTc	p.S261F	HGD_uc003edv.3_Missense_Mutation_p.S120F	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	261					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATTGAACGGGGAGACATCCTA	0.413000														44			20		0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833183	116833183	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:116833183G>A	uc003pwy.3	+	0	376	c.324G>A	c.(322-324)ttG>ttA	p.L108L	BET3L_uc003pwx.3_Intron|BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	108						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGAGCTCATTGGTGGCTCCAG	0.517000														32			16		0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55020268	55020268	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:55020268C>T	uc002qgc.3	+	3	510	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	LAIR2_uc002qgd.3_Intron|LAIR2_uc010erl.3_Silent_p.P98P	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	130						extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCCGGACTCCCCGGACACAGA	0.627000														31			11		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132198655	132198655	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:132198655C>T	uc001uja.1	+	1	398	c.258C>T	c.(256-258)taC>taT	p.Y86Y	SFSWAP_uc010tbn.1_Silent_p.Y86Y|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.	86					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						TTTCTGAGTACGATGCTGAGT	0.458000														32			19		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106348	55106348	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:55106348C>T	uc002qgh.1	+	3	471	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R97C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	97	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGGCGGTATCGCTGTTTCTA	0.587000														49			33		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96098255	96098255	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:96098255G>A	uc001pfx.4	-	7	1483	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	CCDC82_uc009ywp.3_Silent_p.S423S|CCDC82_uc009ywr.3_Silent_p.S423S	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	423							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		AAGCCTGGCAGGAACAGTTTT	0.328000														36			14		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705414	50705414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:50705414C>T	uc002lfe.2	+	8	2117	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	DCC_uc010xdr.1_Nonsense_Mutation_p.R349*|DCC_uc010dpf.2_Nonsense_Mutation_p.R156*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	501	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTACACCTTTCGAGTTGTGGC	0.507000														21			14		0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40990965	40990965	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:40990965G>A	uc002ibq.3	+	7	743	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	PSME3_uc002ibp.3_Missense_Mutation_p.E99K|PSME3_uc002ibr.3_Missense_Mutation_p.E160K|PSME3_uc002ibs.3_Missense_Mutation_p.E171K|PSME3_uc010whd.2_Missense_Mutation_p.E47K	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	160					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|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTTTTAGGAGGAAACAGTTGC	0.488000														153			71		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507638	219507638	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:219507638G>A	uc002vin.3	-	7	4037	c.3601C>T	c.(3601-3603)Cag>Tag	p.Q1201*	ZNF142_uc002vil.3_Nonsense_Mutation_p.Q1162*|ZNF142_uc010fvt.3_Nonsense_Mutation_p.Q1038*|ZNF142_uc002vim.3_Nonsense_Mutation_p.Q1038*	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGGGCACTGATGGGGCTTC	0.622000														56			22		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109384791	109384791	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:109384791C>T	uc002tem.4	+	19	7922	c.7796C>T	c.(7795-7797)tCc>tTc	p.S2599F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2599					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCTTTGCTTCCTTTCCAACG	0.333000														145			49		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44864910	44864910	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:44864910G>A	uc001ztx.3	-	32	6345	c.6314C>T	c.(6313-6315)tCc>tTc	p.S2105F	SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Missense_Mutation_p.S1992F|SPG11_uc010uei.2_Missense_Mutation_p.S2105F	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2105					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)		GGGAACGGAGGAAATCTTATC	0.453000														45			19		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799175	45799175	+	Silent	SNP	G	A	A	rs146049499		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:45799175G>A	uc001jcc.1	-	3	1005	c.696C>T	c.(694-696)acC>acT	p.T232T	OR13A1_uc001jcd.1_Silent_p.T228T|OR13A1_uc021ppq.1_Silent_p.T232T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGGACGCGATGGTCATCAGGA	0.572000														42			4		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684474	33684474	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:33684474A>G	uc001wru.3	+	2	291	c.227A>G	c.(226-228)aAg>aGg	p.K76R	NPAS3_uc001wrs.3_Missense_Mutation_p.K46R|NPAS3_uc001wrv.3_Missense_Mutation_p.K46R|NPAS3_uc001wrt.3_Missense_Mutation_p.K46R|NPAS3_uc001wrw.3_5'UTR	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	76	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)		GAATTGGCCAAGTTGTTGCCT	0.458000														62			28		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40001422	40001422	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:40001422C>T	uc001rmb.2	-	2	1641	c.1215G>A	c.(1213-1215)agG>agA	p.R405R		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	405					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGACATAATCCTTTCAATAG	0.348000														40			28		0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775565	77775566	+	Silent	DNP	CC	TT	TT			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:77775565_77775566CC>TT	uc010chd.3	+	3	526_527	c.435_436CC>TT	c.(433-438)ttcctg>ttTTtg	p.145_146FL>FL	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Silent_p.130_131FL>FL|NUDT7_uc010vnj.2_Silent_p.92_93FL>FL	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	145	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.L146L(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						AGGATGTATTCCTGGTGCCTCT	0.431000														37			6		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85404081	85404081	+	Missense_Mutation	SNP	G	A	A	rs34326321		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:85404081G>A	uc004eew.2	+	0	627	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	DACH2_uc004eex.2_Missense_Mutation_p.E153K|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	153	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAAAGACTTCGAAACTTTGTT	0.577000														14			12		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892022	36892022	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:36892022A>G	uc003apn.4	-	5	1724	c.1616T>C	c.(1615-1617)cTc>cCc	p.L539P	FOXRED2_uc003apm.4_Missense_Mutation_p.L91P|FOXRED2_uc003apo.4_Missense_Mutation_p.L539P|FOXRED2_uc003app.4_Missense_Mutation_p.L539P	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	539					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACCGGTGGGGAGGTATCTATA	0.547000														70			36		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370503	17370503	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:17370503G>A	uc002nfs.1	-	5	920	c.807C>T	c.(805-807)ctC>ctT	p.L269L	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L205L|USHBP1_uc010eam.1_Silent_p.L197L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	269							PDZ domain binding	p.R268H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AATGGCTGCGGAGGCGCCGAA	0.577000														79			35		0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886538	6886538	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:6886538C>T	uc001qqt.4	+	5	1515	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	LAG3_uc001qqu.3_Missense_Mutation_p.S219F	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	389	Ig-like C2-type 3.					integral to membrane	MHC class II protein binding|antigen binding	p.S389P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GACACCCCATCCCAGAGGAGT	0.572000														61			32		0	0	1	0	0
IFNA13	3447	broad.mit.edu	37	9	21367982	21367982	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:21367982T>A	uc003zpa.2	-	0	94	c.28A>T	c.(28-30)Atg>Ttg	p.M10L		NM_006900	NP_008831	P01562	IFNA1_HUMAN	Homo sapiens interferon, alpha 13 (IFNA13), mRNA.	9			V -> A (in dbSNP:rs1758567).		blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.A10A(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		ACCAGGGCCATCAGTAAAGCA	0.552000														50			34		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920136	10920136	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:10920136C>T	uc002yip.1	-	18	1486	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R355Q|TPTE_uc002yir.1_Missense_Mutation_p.R335Q|TPTE_uc010gkv.1_Missense_Mutation_p.R235Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	373	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q372H(1)|p.Q372K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATCTGTTCGCCTTTCTCC	0.383000														43			7		0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829806	26829806	+	Silent	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:26829806T>C	uc003acg.2	+	1	622	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	75					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TGTGGTACTGTTATCACGTGG	0.637000														69			28		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40887003	40887003	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:40887003C>A	uc002onp.3	-	2	1180	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	299	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CGACTGGCCACACTGCCACCA	0.627000														38			17		2.35188e-11	2.38731e-11	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104499685	104499685	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:104499685C>T	uc004bbp.2	-	0	1178	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	GRIN3A_uc004bbq.1_Missense_Mutation_p.V193M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	193					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)	AGCGCCGACACCCCTTGCACC	0.587000														25			23		0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283218	47283218	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:47283218G>C	uc009ylm.3	+	5	1079	c.829G>C	c.(829-831)Ggc>Cgc	p.G277R	NR1H3_uc010rhk.2_Missense_Mutation_p.G283R|NR1H3_uc009yll.2_Missense_Mutation_p.G283R|NR1H3_uc001nek.3_Missense_Mutation_p.G232R|NR1H3_uc001nen.4_Intron|NR1H3_uc001nem.3_Missense_Mutation_p.G277R	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	277	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ACAGCTACCCGGCTTCCTGCA	0.597000														31			18		0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66568121	66568121	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:66568121C>T	uc021qmd.1	+	6	734	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	C11orf80_uc010rpk.2_Missense_Mutation_p.H77Y	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	88										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTCAGATTTCATTTCAGTGT	0.353000														8			6		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598352	46598352	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:46598352C>T	uc009zkj.1	-	9	1353	c.668G>A	c.(667-669)gGa>gAa	p.G223E	SLC38A1_uc001rpb.3_Missense_Mutation_p.G223E|SLC38A1_uc001rpc.3_Missense_Mutation_p.G223E|SLC38A1_uc001rpd.3_Missense_Mutation_p.G223E|SLC38A1_uc001rpe.3_Missense_Mutation_p.G223E|SLC38A1_uc010slh.2_Missense_Mutation_p.G196E|SLC38A1_uc001rpa.3_Missense_Mutation_p.G223E	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	223					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAAGGAAAATCCACTAGTATA	0.289000														38			38		0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145436	58145436	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:58145436T>A	uc001spv.3	-	1	357	c.65A>T	c.(64-66)aAg>aTg	p.K22M	CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	22	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K22R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCACGGGCCTTGTACACTGT	0.557000			Mis			melanoma			Hereditary Melanoma					19			15		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	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														384			17		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960920	73960920	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:73960920T>C	uc004eby.3	-	2	4089	c.3472A>G	c.(3472-3474)Aca>Gca	p.T1158A		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1158					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATTAAATGTTGACAGGCAA	0.388000														57			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106452697	106452697	+	RNA	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:106452697C>T	uc021ser.1	-	2607		c.45263G>A								Parts of antibodies, mostly variable regions.																		ACGGCCGTGTCGTCAGATCTC	0.557000														127			88		0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146560479	146560479	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:146560479G>A	uc003ikh.4	+	1	273	c.188G>A	c.(187-189)aGa>aAa	p.R63K	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	63						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCTTAAAGAGAAAATTATGT	0.398000														34			34		0	0	1	0	0
CBWD5	220869	broad.mit.edu	37	9	70182149	70182149	+	RNA	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:70182149G>A	uc004afw.3	-	2		c.1963C>T						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CTGCTCAAAGGAGAATTGACT	0.388000														25			3		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28626770	28626770	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:28626770T>A	uc001urw.3	-	4	608	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.M176L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	176					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.M176V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTTTCCATTTTTCTAAAG	0.408000			"""Mis, O"""		"""AML, ALL"""									53			17		0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:46498700C>T	uc002pdw.3	+	1	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACGCCGGATCCTGGGGCGGG	0.622000														10			4		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25362155	25362155	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr13:25362155G>A	uc001upr.3	+	6	682	c.641G>A	c.(640-642)aGa>aAa	p.R214K	RNF17_uc010tdd.1_Missense_Mutation_p.R73K|RNF17_uc010tde.2_Missense_Mutation_p.R214K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R153K|RNF17_uc001upq.1_Missense_Mutation_p.R214K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	214					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAATTTGCAAGAACTACTGAT	0.269000														35			14		0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22414247	22414247	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:22414247C>T	uc003xbv.3	+	3	580	c.240C>T	c.(238-240)acC>acT	p.T80T	SORBS3_uc011kzk.1_Non-coding_Transcript	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	80					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGTATCAGACCTGGCCAGGCC	0.602000														21			12		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130698	45130698	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:45130698T>A	uc002xsa.3	-	3	1811	c.1349A>T	c.(1348-1350)cAt>cTt	p.H450L	ZNF334_uc002xsb.3_Missense_Mutation_p.H389L|ZNF334_uc002xsd.3_Missense_Mutation_p.H389L|ZNF334_uc002xsc.3_Missense_Mutation_p.H427L|ZNF334_uc010ghl.3_Missense_Mutation_p.H426L			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCTCCTGTATGACTTCTTCG	0.408000														68			33		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069653	153069653	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:153069653C>T	uc004fja.1	-	7	1733	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	PDZD4_uc004fiy.1_Missense_Mutation_p.E414K|PDZD4_uc004fiz.1_Missense_Mutation_p.E489K|PDZD4_uc004fix.2_Missense_Mutation_p.E393K|PDZD4_uc011mze.1_Missense_Mutation_p.E380K|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	489						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGGCTCTCGGGCAGGGGC	0.706000														6			7		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488934	17488934	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:17488934G>A	uc002zlw.3	-	0	179	c.71C>T	c.(70-72)tCg>tTg	p.S24L	GAB4_uc010gqs.1_Missense_Mutation_p.S24L	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	24										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCGGGCCACGAAGACAAAGG	0.682000														12			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089680	9089680	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:9089680G>A	uc002mkp.3	-	0	2339	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	712	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						TGCAGAGTCTGGTTCAGGGGA	0.493000														43			24		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52585208	52585208	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:52585208T>A	uc002lfs.3	-	9	981	c.809A>T	c.(808-810)aAt>aTt	p.N270I	CCDC68_uc002lft.3_Missense_Mutation_p.N270I	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	270										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTCTTTTAAATTATTTTTTAA	0.328000														11			3		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760698	21760698	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:21760698G>A	uc010iuc.2	-	9	2060	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	CDH12_uc011cno.1_Silent_p.I494I|CDH12_uc003jgk.2_Silent_p.I534I|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	534	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATTTGGTTTGATAGCAGCCT	0.393000										HNSCC(59;0.17)				30			27		0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242689687	242689687	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:242689687C>T	uc002wce.1	+	6	1148	c.975C>T	c.(973-975)ctC>ctT	p.L325L	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.L191L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Silent_p.L24L	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	325					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCGCCATCTCCACCTGGCCA	0.617000														51			29		0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96073850	96073850	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:96073850T>C	uc003htm.4	+	11	1583	c.1309T>C	c.(1309-1311)Tat>Cat	p.Y437H	BMPR1B_uc010ilb.3_Missense_Mutation_p.Y437H|BMPR1B_uc003htn.4_Missense_Mutation_p.Y437H	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	437	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGACCCCTCTTATGAGGACAT	0.413000														2			3		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50193395	50193395	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:50193395G>A	uc001zxu.3	-	20	2325	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	ATP8B4_uc010ber.3_Missense_Mutation_p.S601F|ATP8B4_uc010ufd.2_Missense_Mutation_p.S538F|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Missense_Mutation_p.S26F	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	728					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATGGCCATTGGAAAAATTTCT	0.358000														33			14		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166960505	166960505	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:166960505T>A	uc003irh.2	+	9	1820	c.1173T>A	c.(1171-1173)ttT>ttA	p.F391L	TLL1_uc011cjn.2_Missense_Mutation_p.F391L|TLL1_uc011cjo.2_Missense_Mutation_p.F215L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	391	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTAAATTTTACAACGATGG	0.368000														13			12		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40431539	40431539	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:40431539G>A	uc001cev.3	+	5	787	c.606G>A	c.(604-606)gtG>gtA	p.V202V	MFSD2A_uc010ojb.1_Silent_p.V152V|MFSD2A_uc001ceu.3_Silent_p.V189V|MFSD2A_uc010ojc.2_Silent_p.V33V|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	202					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGATGACTGTGGAAGTGCTGG	0.582000														45			28		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132360973	132360973	+	Missense_Mutation	SNP	C	T	T	rs144771431	byFrequency	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:132360973C>T	uc003eov.4	-	3	760	c.380G>A	c.(379-381)cGa>cAa	p.R127Q		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACGGAAGATTCGACCCTATGG	0.348000														35			27		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512739	4512739	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:4512739C>T	uc002mar.1	-	2	1191	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	397	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCGCTGCCCCTG	0.562000														17			29		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308503	176308503	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:176308503G>A	uc003mfa.3	-	17	2519	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	HK3_uc003mez.3_Silent_p.I365I	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	809	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCTCTAGGATGGCTCGGA	0.647000														29			8		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315755	125315755	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:125315755C>T	uc011lyx.2	+	0	307	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	103					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						GGCCAACATTCATACCCAGAG	0.493000														144			8		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1126377	1126377	+	Silent	SNP	C	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:1126377C>A	uc009xhm.1	+	4	530	c.357C>A	c.(355-357)tcC>tcA	p.S119S	WDR37_uc001ige.3_Silent_p.S119S|WDR37_uc001igf.1_Silent_p.S119S|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	119										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GCCAGCTCTCCCAGAAACTGA	0.498000														21			7		0.000157383	0.000157676	1	1	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	72158	72158	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrGL000209.1:72158C>T	uc002qui.2	+	2	319	c.308C>T	c.(307-309)cCc>cTc	p.P103L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.P100L|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	23	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCACACTCCCCCACTGGGTGG	0.572000														15			29		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85570396	85570396	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:85570396G>A	uc002spd.3	-	10	1993	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.S540F	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	601					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCGGATCCTAGAATCAAGATT	0.517000														39			27		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703022	27703022	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:27703022G>A	uc001itu.2	-	0	276	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	53					spermatid development	integral to membrane	hedgehog receptor activity	p.S53F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGTTCGGGGGATTTCGGGGG	0.692000														97			40		0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78403591	78403591	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:78403591G>A	uc010ums.1	-	2	435	c.114C>T	c.(112-114)gcC>gcT	p.A38A	CIB2_uc002bdb.1_Silent_p.A38A|CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	38							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CGAGGTTGGGGGCCAGCTCAT	0.607000														50			17		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144603	12144603	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:12144603C>T	uc001atq.3	+	1	368	c.146C>T	c.(145-147)cCc>cTc	p.P49L	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	49					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TACCGCTGCCCCATGGGTGAG	0.567000														32			23		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566421	5566421	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:5566421G>A	uc010qzh.2	-	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATAGTGAAGGAAGAACATTT	0.453000														55			22		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93965618	93965618	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:93965618G>A	uc003poe.3	-	12	2551	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L	EPHA7_uc003pof.3_Silent_p.L765L|EPHA7_uc011eac.2_Silent_p.L766L	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	770	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTTACAAACGAGATTGCTGT	0.418000														48			19		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734654	110734654	+	Silent	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:110734654T>C	uc009wfq.3	+	6	1386	c.925T>C	c.(925-927)Ttg>Ctg	p.L309L	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	309					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTCTTTGCCTTGGGCCTGGG	0.552000														48			25		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103470011	103470011	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:103470011G>A	uc001dum.3	-	19	2287	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P645S|COL11A1_uc001dun.3_Missense_Mutation_p.P606S|COL11A1_uc009weh.3_Missense_Mutation_p.P529S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	645	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)		GCTTCACCTGGAAGACCTCTT	0.328000														18			8		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100382224	100382224	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:100382224C>T	uc001dsi.1	+	32	4818	c.4418C>T	c.(4417-4419)aCt>aTt	p.T1473I	AGL_uc001dsj.1_Missense_Mutation_p.T1473I|AGL_uc001dsk.1_Missense_Mutation_p.T1473I|AGL_uc001dsl.1_Missense_Mutation_p.T1473I|AGL_uc001dsm.1_Missense_Mutation_p.T1457I|AGL_uc001dsn.1_Missense_Mutation_p.T1456I	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1473					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)		GGCCCGGAGACTACTGCAAAG	0.353000														18			5		0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77126357	77126357	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:77126357C>T	uc004fof.3	-	2	496	c.434G>A	c.(433-435)aGg>aAg	p.R145K	MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Missense_Mutation_p.R145K	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	113					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAAAATATCCTGTTGGTGAA	0.368000														62			29		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956254	5956254	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:5956254C>T	uc002kmz.4	-	19	1997	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	L3MBTL4_uc002kmy.4_Missense_Mutation_p.E604K|L3MBTL4_uc010dkt.3_Missense_Mutation_p.E613K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	613					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCAATATCTTCTTCAGGGAGT	0.488000														76			53		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397987	10397987	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:10397987G>A	uc002gmo.3	-	37	5564	c.5470C>T	c.(5470-5472)Cgt>Tgt	p.R1824C	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1824						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAAGTTCACGAACCTACAAG	0.388000														44			28		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221822	118221822	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:118221822G>A	uc004era.4	-	10	3371	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1124										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGTCAACTGGGAAAGATGTCT	0.468000														125			50		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958353	40958353	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:40958353G>A	uc003jmh.3	+	10	1593	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCCTCGTAGGGAATCAAGCAG	0.488000														16			13		0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19983592	19983592	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:19983592G>A	uc004czp.3	-	2	844	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Missense_Mutation_p.R232C	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	282						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CGTTTGTGACGATAGTCATAG	0.453000														56			21		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939417	76939417	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:76939417C>T	uc004ecp.4	-	8	1563	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	ATRX_uc004ecq.4_Missense_Mutation_p.R406Q|ATRX_uc004eco.4_Missense_Mutation_p.R229Q|ATRX_uc004ecr.2_Missense_Mutation_p.R405Q|ATRX_uc010nlx.1_Missense_Mutation_p.R444Q|ATRX_uc010nly.1_Missense_Mutation_p.R389Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	444					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTCCTTTTCGTGCTTTTGT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							110			52		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073705	67073705	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:67073705C>T	uc002aqf.3	+	3	2246	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Silent_p.F180F	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	441	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						TGTTCGACTTCGAGCGCTCGG	0.726000														27			11		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75975074	75975074	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:75975074C>T	uc002baw.3	-	6	4750	c.4657G>A	c.(4657-4659)Gat>Aat	p.D1553N		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1553	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGCCTCCATCCAGGGTTCCT	0.687000														49			15		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33487076	33487076	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:33487076C>T	uc002nuf.3	-	10	1342	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	RHPN2_uc010xro.2_Missense_Mutation_p.E275K|RHPN2_uc002nue.3_Missense_Mutation_p.E156K	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	426	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGGCTGGCCTCCCGCACCGAC	0.627000														50			22		0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37211270	37211270	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr22:37211270G>A	uc010gwz.3	-	1	101	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PVALB_uc003apx.3_Missense_Mutation_p.S24F	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	24							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						GTGGTCGAAGGAGTCGGTAGC	0.512000														28			15		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32628039	32628039	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:32628039C>T	uc010ogy.2	+	8	867	c.840C>T	c.(838-840)gcC>gcT	p.A280A	KPNA6_uc001bug.3_Silent_p.A275A|KPNA6_uc001buh.3_Silent_p.A50A|KPNA6_uc010ogx.2_Silent_p.A272A	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	275					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTTGCTGGGCCCTTTCTTATC	0.537000														106			47		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8530352	8530352	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:8530352C>T	uc010dwe.3	+	5	663	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	HNRNPM_uc010dwc.1_Missense_Mutation_p.H195Y|HNRNPM_uc010xke.1_Intron|HNRNPM_uc010dwd.3_Intron|HNRNPM_uc002mka.3_Missense_Mutation_p.H75Y	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	195					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGAGATTATCCATGCATTACA	0.423000														72			22		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359025	24359025	+	Missense_Mutation	SNP	G	A	A	rs146728776		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:24359025G>A	uc003xeb.3	+	19	2257	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E	ADAM7_uc003xec.3_Missense_Mutation_p.G487E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G715*(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAGAACAAAGGATACTTTGGT	0.368000														27			22		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078819	157078819	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:157078819C>T	uc003lxb.1	-	0	610	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	SOX30_uc003lxc.1_Missense_Mutation_p.E90K|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	90					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGCGGCTTCCTCGTTCTGG	0.711000														5			7		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634091	70634091	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:70634091C>T	uc001xly.3	-	1	1803	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	SLC8A3_uc001xlw.3_Missense_Mutation_p.S350N|SLC8A3_uc001xlx.3_Missense_Mutation_p.S350N|SLC8A3_uc001xlz.3_Missense_Mutation_p.S350N|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	350					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGGCACGGCTCTTCTGTTG	0.493000														40			17		0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256186	77256186	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:77256186C>T	uc003ugh.2	+	12	1281	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PTPN12_uc011kgp.1_Missense_Mutation_p.S278L|PTPN12_uc011kgq.1_Missense_Mutation_p.S267L|PTPN12_uc010lds.2_Missense_Mutation_p.S129L	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	397	Interaction with TGFB1I1 (By similarity).					soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CATATGGTTTCATCAGAACAA	0.398000														24			19		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204652	43204652	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:43204652C>T	uc002lbe.3	+	1	839	c.23C>T	c.(22-24)cCt>cTt	p.P8L	SLC14A2_uc002lbb.3_Missense_Mutation_p.P8L|SLC14A2_uc010dnj.3_Missense_Mutation_p.P8L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	8						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			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						CACAGCAGTCCTCTCCTGCCA	0.572000														39			20		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75038095	75038095	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:75038095C>T	uc009xrc.3	-	21	2571	c.2450_splice	c.e21-1	p.G817_splice	TTC18_uc001jty.3_Splice_Site_p.G817_splice|TTC18_uc001jtv.4_Splice_Site|TTC18_uc001jtw.4_Splice_Site|TTC18_uc001jtx.3_Splice_Site_p.G198_splice	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	817							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)					AGCTCCTGGTCCTAAATAGAT	0.323000														3			4		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932369	39932369	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:39932369C>T	uc004den.4	-	3	2522	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	BCOR_uc004dep.4_Missense_Mutation_p.E744K|BCOR_uc004deo.4_Missense_Mutation_p.E744K|BCOR_uc004dem.4_Missense_Mutation_p.E744K|BCOR_uc004deq.4_Missense_Mutation_p.E744K	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	744					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GATCTCCTCTCTGGTTTCTCC	0.522000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							112			45		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242151534	242151534	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:242151534C>T	uc002wax.2	+	15	1852	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	583						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGACCAAGTTCGAGGACGCCT	0.582000														38			23		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189503	59189504	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:59189503_59189504CC>TT	uc010rkt.2	-	0	923_924	c.923_924GG>AA	c.(922-924)agg>aAA	p.R308K		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCCCGGGGTCCCTTTCCATGGC	0.431000														75			42		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	701848	701848	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:701848C>T	uc002cii.1	+	8	916	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	WDR90_uc002cig.1_Missense_Mutation_p.P288S|WDR90_uc002cih.1_Missense_Mutation_p.P289S|WDR90_uc002cij.1_Non-coding_Transcript	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	288										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCCTTGGCACCCAGGCCCTT	0.677000														22			14		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753849	49753849	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:49753849C>T	uc003ozu.3	-	0	1205	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	351					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)					GGCTTTGGTTCCCTTAGCAAA	0.478000														86			41		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081348	95081348	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:95081348G>A	uc001ydp.3	+	1	729	c.570G>A	c.(568-570)ggG>ggA	p.G190G	SERPINA3_uc001ydo.4_Silent_p.G215G|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.G190G|SERPINA3_uc001yds.3_Silent_p.G190G	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	190					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACTAGGGGGAAAATCACAG	0.493000														62			36		0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95157616	95157616	+	Splice_Site	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:95157616G>A	uc011kij.2	+	3	1049	c.978_splice	c.e3+1	p.K326_splice	ASB4_uc003unx.3_Missense_Mutation_p.V327M	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	326					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCCATAAGGTGAGGCTCTG	0.552000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			12		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30518079	30518079	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:30518079G>A	uc002dyi.4	+	20	2586	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	ITGAL_uc002dyj.4_Missense_Mutation_p.E720K|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	804					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTCTCTGTGGAGCTGAGCCT	0.567000														262			120		0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11537503	11537503	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:11537503C>T	uc002mrs.3	-	5	857	c.714_splice	c.e5+1	p.M238_splice	CCDC151_uc002mrr.3_Splice_Site_p.M173_splice|CCDC151_uc010dxz.3_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	238										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TAGTCCCTACCATTAGATAGG	0.612000														18			5		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774538	122774538	+	Silent	SNP	C	T	T	rs151167581		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:122774538C>T	uc003vkm.3	-	7	883	c.858G>A	c.(856-858)acG>acA	p.T286T	SLC13A1_uc010lks.3_Silent_p.T162T	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	286						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGAAGGAAAACGTAAACCATG	0.438000														37			9		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22749	22749	+	RNA	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrGL000241.1:22749C>T	uc011mgv.2	-	5		c.671G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AAGACTGGTTCCCATTGTTCT	0.328000														66			5		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683885	69683885	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:69683885C>T	uc003hee.3	+	1	882	c.857C>T	c.(856-858)cCc>cTc	p.P286L	UGT2B10_uc011cam.2_Missense_Mutation_p.P202L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	286					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						CCTGCCAAACCCCTACCTAAG	0.373000														77			58		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9861129	9861129	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:9861129C>T	uc001mib.2	-	25	3509	c.3371G>A	c.(3370-3372)gGa>gAa	p.G1124E	SBF2_uc001mif.3_Missense_Mutation_p.G880E|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1124	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTTATGGTTCCTAAACCTAA	0.483000														75			53		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	RNA	SNP	C	A	A	rs79307257	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:96593016C>A	uc010yug.1	-	26		c.1897G>T			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000														42			7		5.18039e-06	5.21912e-06	1	1	0
BRAT1	221927	broad.mit.edu	37	7	2582947	2582947	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:2582947A>T	uc003smi.3	-	5	1102	c.814T>A	c.(814-816)Ttc>Atc	p.F272I	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_3'UTR|BRAT1_uc003smj.2_3'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	272					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GAAGAACTGAACACGGGAGAA	0.622000														36			11		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	A	A	rs17849781		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:7577106G>A	uc002gim.2	-	7	1026	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(108)|p.P278L(58)|p.P278T(45)|p.P278A(44)|p.P278R(28)|p.C277F(22)|p.C277Y(15)|p.P278H(12)|p.P278fs*67(8)|p.0?(8)|p.P278F(7)|p.C277*(7)|p.C277G(5)|p.P278fs*28(4)|p.C277C(4)|p.A276_R283delACPGRDRR(2)|p.V274_P278del(2)|p.C277_P278insXXXXXXX(2)|p.L265_K305del41(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.F270_D281del12(2)|p.C277W(2)|p.C277S(2)|p.V272_K292del21(2)|p.C277fs*29(2)|p.A276fs*64(1)|p.P278P(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				12			9		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033027	117033027	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:117033027C>T	uc011mtp.2	-	7	1954	c.1821G>A	c.(1819-1821)gaG>gaA	p.E607E	KLHL13_uc004eqk.3_Silent_p.E553E|KLHL13_uc004eql.3_Silent_p.E604E|KLHL13_uc011mtn.2_Silent_p.E444E|KLHL13_uc011mto.2_Silent_p.E598E|KLHL13_uc011mtq.2_Silent_p.E588E|KLHL13_uc004eqm.3_Silent_p.E562E|KLHL13_uc022cde.1_Silent_p.E588E	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	604					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTGCACTATCTCTACCATAC	0.428000														72			39		0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20124682	20124682	+	Silent	SNP	G	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:20124682G>T	uc003ncx.1	-	7	1069	c.864C>A	c.(862-864)gtC>gtA	p.V288V	MBOAT1_uc011dji.1_Silent_p.V139V	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	288					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGGCTTGCATGACAACATATA	0.438000														60			38		9.62906e-15	9.82966e-15	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155450984	155450984	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:155450984C>T	uc003qqb.3	+	5	1900	c.627C>T	c.(625-627)tcC>tcT	p.S209S	TIAM2_uc003qqe.3_Silent_p.S209S	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	209					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CGGAAACCTCCCCTGTGCCTG	0.637000														40			13		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616835	1616835	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:1616835C>T	uc003wpl.3	+	5	2008	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	DLGAP2_uc003wpm.3_Silent_p.I637I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	716					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCTCCTCCATCGGGATTCAGG	0.632000														1			3		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87607726	87607726	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:87607726C>T	uc003ujn.3	+	3	538	c.323_splice	c.e3+1	p.H108_splice	ADAM22_uc003uji.2_Splice_Site_p.H107_splice|ADAM22_uc003ujj.2_Splice_Site_p.H108_splice|ADAM22_uc003ujk.2_Splice_Site_p.H108_splice|ADAM22_uc003ujl.2_Splice_Site_p.H108_splice|ADAM22_uc003ujm.3_Splice_Site_p.H108_splice|ADAM22_uc003ujo.3_Splice_Site_p.H108_splice|ADAM22_uc003ujp.1_Splice_Site_p.H160_splice	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	108					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGTGCTAAATCAGTAAGTGTT	0.353000														24			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179401241	179401241	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:179401241C>T	uc021vsy.1	-	305	92754	c.92529G>A	c.(92527-92529)gtG>gtA	p.V30843V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V24538V|TTN_uc021vta.1_Silent_p.V24471V|TTN_uc021vtb.1_Silent_p.V24346V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31770	Fibronectin type-III 124.						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)			GCTTCCAGGCCACAACACAAG	0.408000														35			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452434	179452434	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:179452434C>T	uc021vsy.1	-	254	56123	c.55898G>A	c.(55897-55899)cGa>cAa	p.R18633Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12328Q|TTN_uc021vta.1_Missense_Mutation_p.R12261Q|TTN_uc021vtb.1_Missense_Mutation_p.R12136Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19560	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18633I(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)			AGGGGCTGGTCGTCCTCTCAC	0.478000														25			13		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236903	23236903	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:23236903G>A	uc009vqj.1	+	13	2676	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	EPHB2_uc001bge.3_Missense_Mutation_p.R845Q|EPHB2_uc001bgf.3_Missense_Mutation_p.R844Q|EPHB2_uc010odu.2_Missense_Mutation_p.R786Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	844	Protein kinase.		R -> W (in dbSNP:rs55826626).		axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGGACTATCGGCTGCCACCG	0.612000														53			16		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790286	248790286	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:248790286C>T	uc001ier.1	-	0	144	c.144G>A	c.(142-144)gtG>gtA	p.V48V		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V48M(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCGAGAGTCCACCTGAATCA	0.498000														18			30		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594596	140594596	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:140594596G>A	uc003lja.1	+	0	1088	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGACAGGAGAAATTGAACT	0.398000														59			53		0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600049	116600049	+	Silent	SNP	A	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:116600049A>T	uc003pwp.4	-	0	1232	c.945T>A	c.(943-945)ccT>ccA	p.P315P	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	315					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		AACCGGTTCTAGGGTGTCTGA	0.463000														87			36		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197614869	197614869	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:197614869G>A	uc021pgu.1	-	8	850	c.512C>T	c.(511-513)tCc>tTc	p.S171F	DENND1B_uc010ppf.2_Non-coding_Transcript|DENND1B_uc001guf.3_Missense_Mutation_p.S171F|DENND1B_uc001gue.3_Missense_Mutation_p.S141F|DENND1B_uc001gug.4_5'UTR	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	171	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AATGAAGTAGGAATGCTAATC	0.254000														7			12		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199461	20199461	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:20199461G>A	uc003sus.4	-	4	832	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	MACC1_uc010kug.3_Missense_Mutation_p.R175W	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	175					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TAAGCCTCCCGATCATTTTTA	0.468000														34			17		0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143080289	143080289	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:143080289C>T	uc003wcx.3	+	4	1055	c.897C>T	c.(895-897)ccC>ccT	p.P299P	ZYX_uc011ktd.2_Silent_p.P142P|ZYX_uc003wcw.3_Silent_p.P299P|ZYX_uc011kte.2_Silent_p.P268P|ZYX_uc011ktf.2_Silent_p.P142P	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	299					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGGGCACCCCGAAGCTCTTT	0.572000														38			29		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96425891	96425891	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:96425891T>A	uc004aub.3	+	13	2058	c.1911T>A	c.(1909-1911)ttT>ttA	p.F637L	PHF2_uc011lug.1_Missense_Mutation_p.F520L|PHF2_uc004auc.3_Missense_Mutation_p.F56L	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	637	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGTTCTCTTTTTCTTTCTCCA	0.473000														39			5		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142184064	142184064	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:142184064G>A	uc003eux.4	-	40	7038	c.6916C>T	c.(6916-6918)Ctt>Ttt	p.L2306F	ATR_uc003euy.1_Missense_Mutation_p.L192F	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2306					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTTTCTGAAGAGAAGCAAGA	0.318000								Other conserved DNA damage response genes						23			8		0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967493	142967493	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:142967493C>T	uc004fca.3	+	0	321	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	97							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGTGGTCCCCAGCCCTGC	0.423000														51			35		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31419231	31419231	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:31419231G>A	uc010cap.1	+	8	1052	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I	ITGAD_uc010vfl.1_Missense_Mutation_p.S367N|ITGAD_uc002ebv.1_Missense_Mutation_p.V335I|ITGAD_uc002ebw.1_Missense_Mutation_p.S178N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	335					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATCTATGCAGTTGAGGGTAA	0.542000														45			14		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59944992	59944992	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:59944992G>A	uc002izn.3	-	24	3617	c.3541C>T	c.(3541-3543)Cct>Tct	p.P1181S	INTS2_uc002izm.3_Missense_Mutation_p.P1173S	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1181					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.P1181L(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGTACATCAGGATCCATGCTT	0.323000														21			12		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7643208	7643208	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:7643208G>A	uc002giu.1	+	7	1342	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	DNAH2_uc002git.3_Missense_Mutation_p.G525E|DNAH2_uc010vuk.2_Missense_Mutation_p.G443E	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	443	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCGTTCGCGGGGGTATCCTG	0.542000														28			11		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193084	104193084	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:104193084C>T	uc004bbk.2	-	1	168	c.86G>A	c.(85-87)gGg>gAg	p.G29E		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	29					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCCAGGATCCCCTTTCCATT	0.443000														26			15		0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1057193	1057193	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:1057193T>C	uc003zha.3	+	3	1806	c.1606T>C	c.(1606-1608)Tcg>Ccg	p.S536P	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.S380P|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.S536P	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	536					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AACAAAACTCTCGGTGAATGA	0.398000														54			6		0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548009	22548009	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:22548009G>A	uc003xcm.1	-	1	1499	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	EGR3_uc011kzn.1_Missense_Mutation_p.P343S|EGR3_uc011kzo.2_Missense_Mutation_p.P327S	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	381					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GTGACCACGGGGGCCAGCGAC	0.672000														29			10		0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262828	159262828	+	RNA	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr6:159262828G>A	uc003qrw.3	-	2		c.516C>T								Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA.																		GGACACAAACGAATCCAATGA	0.403000														57			18		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104877854	104877854	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:104877854G>A	uc010ruz.1	-	2	460	c.428C>T	c.(427-429)aCc>aTc	p.T143I	CASP5_uc010rva.1_Missense_Mutation_p.T130I|CASP5_uc010rvb.1_Missense_Mutation_p.T72I|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	130	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AAGTGTTTGGGTAAACATTTG	0.353000														61			25		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246248	233246248	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:233246248G>A	uc002vsq.3	+	10	1516	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	451			E -> G (in dbSNP:rs1048994).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCCCCTGGACGAAGAGACCCA	0.647000														21			7		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56064014	56064014	+	RNA	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr20:56064014G>A	uc010giu.3	-	3		c.669C>T			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGCTCCTCCCGACAAGTTTGC	0.428000														115			51		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169391029	169391029	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:169391029C>T	uc001gga.1	-	2	808	c.640G>A	c.(640-642)Gat>Aat	p.D214N	C1orf114_uc001gfz.1_Missense_Mutation_p.D214N|C1orf114_uc009wvq.1_Missense_Mutation_p.D214N|C1orf114_uc001ggb.3_Missense_Mutation_p.D214N|C1orf114_uc001ggc.1_Missense_Mutation_p.D214N	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	214										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					ATTGTCCTATCCTTGTTTTCT	0.368000														27			44		0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79833063	79833063	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:79833063C>T	uc003uhb.1	+	4	842	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S	GNAI1_uc011kgt.1_Missense_Mutation_p.P117S	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	169					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAATTACATCCCGACTCAACA	0.313000														22			7		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900776	40900777	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:40900776_40900777CC>TT	uc002onr.3	-	6	3751_3752	c.3482_3483GG>AA	c.(3481-3483)ggg>gAA	p.G1161E	PRX_uc002onq.3_Missense_Mutation_p.G1022E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1161	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACCTGCCTCCCCAAAGCCGGT	0.663000														71			36		0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100867053	100867054	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:100867053_100867054CC>TT	uc003uye.3	+	3	865_866	c.373_374CC>TT	c.(373-375)ccc>TTc	p.P125F	ZNHIT1_uc003uyf.3_Non-coding_Transcript	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA.	125							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CTTCCCATCCCCCTACACCTGT	0.653000														59			17		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096895	97096895	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:97096895G>A	uc001kkp.3	-	27	3067	c.3022C>T	c.(3022-3024)Cct>Tct	p.P1008S	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P962S|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1008					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGCAGAGGAGGCAAGGGTGGG	0.617000														14			17		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845570	123845570	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:123845570C>T	uc001lfv.3	+	3	3915	c.3555C>T	c.(3553-3555)caC>caT	p.H1185H	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.H1185H|TACC2_uc010qtv.2_Silent_p.H1185H	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1185						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGCTGAGCACCCCATGGCCA	0.587000														14			9		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48247642	48247642	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:48247642G>A	uc002iqi.3	+	6	922	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Intron|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	296					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACCCTCCTGGTGCCCCTGCT	0.637000														64			36		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239578	3239578	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:3239578G>A	uc004crg.4	-	4	4305	c.4148C>T	c.(4147-4149)tCa>tTa	p.S1383L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1383						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCGTCCTTGAGGGATTCCA	0.507000														23			6		0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036630	13036630	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:13036630G>A	uc009vnq.1	+	1	702	c.702G>A	c.(700-702)agG>agA	p.R234R	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	234										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GCCAGATGAGGAATCTTCGCA	0.473000														187			31		0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226019639	226019639	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:226019639C>T	uc001hpk.3	+	2	423	c.343C>T	c.(343-345)Cac>Tac	p.H115Y	EPHX1_uc001hpl.3_Missense_Mutation_p.H115Y	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	115					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CAGATACCCTCACTTCAAGAC	0.448000														15			34		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139856364	139856364	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr8:139856364G>A	uc003yvd.3	-	3	1143	c.696C>T	c.(694-696)cgC>cgT	p.R232R		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	232					cell adhesion	collagen|cytoplasm	structural molecule activity	p.R232H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGCTTAAAGCGATCTCCTT	0.463000										HNSCC(7;0.00092)				77			35		0	0	1	0	0
TFPT	29844	broad.mit.edu	37	19	54617859	54617859	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:54617859T>G	uc010yej.1	-	1	651	c.245A>C	c.(244-246)tAc>tCc	p.Y82S	TFPT_uc010erd.2_Missense_Mutation_p.Y82S|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	82					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TAGTGCCTGGTACTTTCTGCG	0.662000			T	TCF3	pre-B ALL									70			23		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22864223	22864223	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:22864223C>T	uc001yuq.2	+	15	2311	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	TUBGCP5_uc001yur.4_Silent_p.F727F	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	727					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGAATTTTTTCTTAATGGAAG	0.373000														46			20		0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47908564	47908564	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:47908564C>T	uc002let.3	+	3	463	c.279C>T	c.(277-279)tcC>tcT	p.S93S	SKA1_uc002leu.3_Silent_p.S93S|SKA1_uc010xdl.2_Silent_p.S93S	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	93					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ACGTTCCTTCCCATTTGCCTC	0.338000														20			7		0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599243	15599243	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:15599243G>A	uc002yjo.4	+	4	517	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	RBM11_uc002yjn.4_Missense_Mutation_p.E45K|RBM11_uc002yjp.4_Missense_Mutation_p.E45K	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	159							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCCTTACTATGAAATGACAGC	0.413000														110			60		0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65439400	65439400	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:65439400G>A	uc003tun.3	-	7	1404	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	GUSB_uc011kdt.2_Missense_Mutation_p.H279Y	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	425					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCATGTGGTGATGCAGAGAA	0.622000														48			30		0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466407	57466407	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:57466407C>T	uc001nkx.1	+	10	2755	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	ZDHHC5_uc001nky.1_Missense_Mutation_p.P447L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.P314L	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	500						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TATACCTCTCCCTTCCTGTCA	0.582000														27			15		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038023	75038023	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:75038023G>A	uc001dgg.3	-	13	3590	c.3371C>T	c.(3370-3372)tCt>tTt	p.S1124F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1124	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCAGCATCAGATCCCATTTC	0.443000														42			22		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796783	43796783	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr21:43796783G>A	uc002zbb.2	-	10	1262	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	TMPRSS3_uc002zay.2_Missense_Mutation_p.S111F|TMPRSS3_uc002zaz.2_Missense_Mutation_p.S227F|TMPRSS3_uc002zba.2_Missense_Mutation_p.S227F|TMPRSS3_uc002zbc.2_Missense_Mutation_p.S353F	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	354	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGGACAGGGGAGGCGTCACC	0.597000											OREG0026238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		160			61		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229679	21229679	+	Missense_Mutation	SNP	G	A	A	rs61742331	byFrequency	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:21229679G>A	uc002red.3	-	25	10189	c.10061C>T	c.(10060-10062)gCt>gTt	p.A3354V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3354					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)	AAAAAGTTCAGCATTGGTATT	0.373000														64			21		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397738	23397738	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:23397738C>T	uc004dal.4	+	1	390	c.382C>T	c.(382-384)Cca>Tca	p.P128S	PTCHD1_uc010nfu.2_Missense_Mutation_p.P128S	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	128					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GATCCAGGTTCCAAGGCCTGG	0.393000														43			25		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612272	8612272	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:8612272C>T	uc001qum.1	+	2	318	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	67					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TCACCTGCTTCAGTGAAGGGA	0.388000														64			33		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68695368	68695368	+	Splice_Site	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:68695368C>T	uc010bib.3	-	2	140	c.53_splice	c.e2-1	p.G18_splice	ITGA11_uc002ari.3_Splice_Site_p.G18_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	18					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)	GTCCGTGAACCCTGAGGCAGG	0.607000														10			6		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414676	46414676	+	Missense_Mutation	SNP	G	A	A	rs149975182		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:46414676G>A	uc003cpo.4	+	2	405	c.283G>A	c.(283-285)Gac>Aac	p.D95N	CCR5_uc010hjd.3_Missense_Mutation_p.D95N|CCR5_uc021wxb.1_Missense_Mutation_p.D95N	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	95			D -> N (in MWCCR5-107).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CGCCCAGTGGGACTTTGGAAA	0.473000														68			45		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567778	140567778	+	Missense_Mutation	SNP	C	T	T	rs138983173	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:140567778C>T	uc003liw.1	+	0	886	c.886C>T	c.(886-888)Cct>Tct	p.P296S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	296	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAATCAATCCTTTTTCTGG	0.368000														6			6		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000														33			4		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85433758	85433758	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:85433758C>T	uc002blg.3	+	4	472	c.270C>T	c.(268-270)ctC>ctT	p.L90L	SLC28A1_uc010upd.1_Silent_p.L12L|SLC28A1_uc010bnb.3_Silent_p.L90L|SLC28A1_uc010upe.2_Silent_p.L90L|SLC28A1_uc010upf.1_Silent_p.L90L|SLC28A1_uc010upg.1_Silent_p.L90L|SLC28A1_uc002blf.3_Silent_p.L90L	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	90					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGCCTGCTCTGCACTGGTG	0.592000														9			4		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120586107	120586107	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:120586107C>T	uc001txo.3	-	36	4603	c.4590G>A	c.(4588-4590)aaG>aaA	p.K1530K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1530					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGACAGCTGCTTAGGAGCAC	0.557000														22			12		0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166308	15166308	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:15166308G>A	uc010dzv.2	+	5	800	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	196					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.F195Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ATGTGTTCACGAAGAGGAAAG	0.552000														40			28		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338911	19338911	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:19338911C>T	uc002nlz.3	+	7	2581	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NCAN_uc010ecc.1_Missense_Mutation_p.P392S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	828					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACTGTGAATCCCATGGATTC	0.567000														42			26		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21549999	21549999	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr14:21549999C>T	uc001vzp.3	+	13	3001	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ARHGEF40_uc001vzo.1_Missense_Mutation_p.S70F|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.S277F	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	991					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGCCTCAGCTCCTTGCTGCTC	0.721000														13			6		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221584	59221584	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr18:59221584G>A	uc010dps.1	+	10	2214	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	CDH20_uc002lif.2_Missense_Mutation_p.E682K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	688					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAACCCCCGGGAGGCGCAGGC	0.682000														80			36		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480834	57480834	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:57480834G>A	uc009vzx.1	-	11	1486	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I	DAB1_uc001cyt.1_Missense_Mutation_p.T387I|DAB1_uc001cyq.1_Missense_Mutation_p.T387I|DAB1_uc001cyr.1_Missense_Mutation_p.T303I|DAB1_uc009vzw.1_Missense_Mutation_p.T371I|DAB1_uc001cys.1_Missense_Mutation_p.T389I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	422					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCCTGGGACGGTGGCAAGGGG	0.582000														49			18		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301170	29301170	+	Silent	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:29301170T>C	uc004dby.2	+	2	706	c.198T>C	c.(196-198)ctT>ctC	p.L66L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	66	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATTACTCCCTTGCCCAAAGTG	0.413000														33			25		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160033010	160033010	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:160033010C>T	uc002uag.3	+	12	2157	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	TANC1_uc010fol.1_Missense_Mutation_p.T522I|TANC1_uc010zcm.2_Missense_Mutation_p.T620I|TANC1_uc010fom.1_Missense_Mutation_p.T434I	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	628						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTGATTGTGACTGTAAGAGCA	0.318000														35			12		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29812503	29812503	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr10:29812503C>T	uc001iut.1	-	14	3793	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.E588K	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1014					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.E1014K(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCTTCGGTTCATCCCCGAGG	0.512000														36			19		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161665	132161665	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chrX:132161665A>G	uc011mvf.2	-	0	636	c.584T>C	c.(583-585)tTg>tCg	p.L195S	USP26_uc010nrm.1_Missense_Mutation_p.L195S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	195					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTTTCTTTCAAGAATTCCTC	0.348000														29			19		0	0	1	0	0
SLC35D2	11046	broad.mit.edu	37	9	99083600	99083600	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:99083600G>A	uc004awc.3	-	11	1014	c.938C>T	c.(937-939)tCc>tTc	p.S313F	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Missense_Mutation_p.S225F	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	313						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	p.S313S(1)		endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				TGTTAAAAAGGAATATCTCAA	0.433000														61			7		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496630	20496630	+	RNA	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr15:20496630G>A	uc001ytf.1	+	5		c.683G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCATGAAGGGGAAGCCGAGGG	0.438000														64			10		0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89620245	89620245	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:89620245C>T	uc002fnj.3	+	14	2001	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	SPG7_uc002fnl.3_Silent_p.S69S	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	660					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCGCCTACTCCATGGTGAAGC	0.662000														35			29		0	0	1	0	0
SCGB2A1	4246	broad.mit.edu	37	11	61978009	61978009	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:61978009G>A	uc001nta.2	+	1	244	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_002407	NP_002398	O75556	SG2A1_HUMAN	Homo sapiens secretoglobin, family 2A, member 1 (SCGB2A1), mRNA.	60						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGGCTATGGGGAAATTCAAGC	0.398000														73			28		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46893151	46893151	+	Silent	SNP	G	A	A	rs151261586		TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:46893151G>A	uc001ndn.4	-	30	4860	c.4617C>T	c.(4615-4617)atC>atT	p.I1539I	LOC100507401_uc001ndl.3_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1539					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCACTCTCGATCCGGTCCA	0.567000														13			5		0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149898276	149898277	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:149898276_149898277GG>AA	uc001etk.2	-	2	1190_1191	c.697_698CC>TT	c.(697-699)cct>TTt	p.P233F	SF3B4_uc009wll.1_Missense_Mutation_p.P233F	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	233						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTGGTGGAGGAAGCCCAGAC	0.530000														47			24		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226995	2226995	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr19:2226995C>T	uc002lvc.1	+	12	3124	c.2357C>T	c.(2356-2358)tCc>tTc	p.S786F	DOT1L_uc002lvb.4_Missense_Mutation_p.S1492F	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1492						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GCCGGCTCCTCCGTGCTGCAG	0.716000														21			11		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968585	69968585	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr12:69968585C>T	uc001suy.3	+	9	1887	c.1377C>T	c.(1375-1377)ccC>ccT	p.P459P	FRS2_uc001suz.3_Silent_p.P459P|FRS2_uc009zrj.3_Silent_p.P459P|FRS2_uc009zrk.3_Silent_p.P459P	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	459					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTACAACTCCCCTTCCACAAA	0.498000														37			26		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48315048	48315048	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:48315048C>T	uc003toq.2	+	16	5809	c.5785C>T	c.(5785-5787)Cca>Tca	p.P1929S	ABCA13_uc010kyr.2_Missense_Mutation_p.P1432S|ABCA13_uc022acp.1_Missense_Mutation_p.P428S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1929					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						ACCGTTTGTCCCACCTTCAAT	0.363000														104			45		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739548	129739548	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:129739548G>A	uc001qfg.3	-	21	3568	c.3447C>T	c.(3445-3447)gtC>gtT	p.V1149V	NFRKB_uc001qfi.3_Silent_p.V1124V|NFRKB_uc001qfh.3_Silent_p.V1147V|NFRKB_uc010sbw.1_Silent_p.V1134V|NFRKB_uc009zcr.3_Silent_p.V410V	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1124					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGAAGTATGGACAGTTCCAG	0.592000														55			22		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195538626	195538626	+	Silent	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr3:195538626G>A	uc021xjp.1	-	0	219	c.63C>T	c.(61-63)ctC>ctT	p.L21L	MUC4_uc003fvo.3_Silent_p.L21L|MUC4_uc003fvp.3_Silent_p.L21L|MUC4_uc010hzv.3_Non-coding_Transcript	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	21					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGCGGAAGGAGGCAGAGAC	0.647000														58			18		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78804038	78804038	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr9:78804038C>A	uc004akc.2	+	18	2947	c.2409C>A	c.(2407-2409)tgC>tgA	p.C803*	PCSK5_uc004ajz.3_Nonsense_Mutation_p.C803*|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Nonsense_Mutation_p.C77*	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	803	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATTAACTGCACAGAGGGCT	0.458000														29			3		6.4e-05	6.42384e-05	1	1	0
RNF213	57674	broad.mit.edu	37	17	78326855	78326855	+	Silent	SNP	T	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr17:78326855T>C	uc002jyh.2	+	33	10709	c.10566T>C	c.(10564-10566)ccT>ccC	p.P3522P	RNF213_uc021uen.1_Silent_p.P3473P|LOC100294362_uc002jyi.2_3'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGACTTGCCTGAGCGTGAGT	0.632000														38			17		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167780	28167780	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr16:28167780G>A	uc002dpa.1	-	6	1213	c.712C>T	c.(712-714)Ctt>Ttt	p.L238F	XPO6_uc002dpb.1_Missense_Mutation_p.L224F|XPO6_uc010vcp.1_Missense_Mutation_p.L238F	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	238					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCACATCAAGGATGGGAATT	0.483000														49			24		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344289	248344289	+	Silent	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:248344289C>T	uc010pzf.2	+	0	1002	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	334					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCTTTTTCTATGATGTCA	0.294000														47			60		0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417956	1417956	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:1417956C>T	uc001afv.3	+	6	813	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	ATAD3B_uc001afw.2_Missense_Mutation_p.R192C|ATAD3B_uc001afx.3_Missense_Mutation_p.R192C	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	238							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAAGGATTCCGTGCCTTTGT	0.577000														82			29		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16117606	16117606	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr11:16117606A>C	uc001mme.3	-	8	1109	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	SOX6_uc001mmd.3_Intron|SOX6_uc001mmf.3_Intron|SOX6_uc001mmg.3_Missense_Mutation_p.F346C	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	346					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATTCCTGCCAAAACGGTCACT	0.418000														46			16		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	RNA	SNP	C	T	T	rs75189823	by1000genomes	TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr2:96593025C>T	uc010yug.1	-	26		c.1888G>A			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000														45			7		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79378234	79378234	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr5:79378234G>A	uc021yaw.1	+	20	2881	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	BC047373_uc003kgi.4_Non-coding_Transcript	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	897	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CGCAGGGTACGATTTTATGAA	0.562000														78			30		0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156438708	156438708	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:156438708G>A	uc001fpc.3	-	9	1501	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	MEF2D_uc001fpb.3_Nonsense_Mutation_p.Q364*|MEF2D_uc001fpd.3_Nonsense_Mutation_p.Q364*|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Nonsense_Mutation_p.Q371*	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	371	Gln/Pro-rich.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					tgcggctgctggggctgctgt	0.637000														52			22		0	0	1	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309657	1309658	+	Frame_Shift_Ins	INS	-	G	G			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:1309657_1309658insG	uc001afb.1	-	1	330_331	c.220_221insC	c.(220-222)ctgfs	p.L74fs	AURKAIP1_uc001afc.2_Frame_Shift_Ins_p.L74fs|AURKAIP1_uc009vkb.1_Frame_Shift_Ins_p.L74fs|AURKAIP1_uc001afd.2_Frame_Shift_Ins_p.L74fs	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	74					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	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;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGCTCTCCAGGGGGCTGACG	0.693													---	43	---	---	20	---					
CLSPN	63967	broad.mit.edu	37	1	36219442	36219453	+	In_Frame_Del	DEL	CTTTCACTATGA	-	-			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr1:36219442_36219453delCTTTCACTATGA	uc001bzi.3	-	8	1744_1755	c.1664_1675delTCATAGTGAAAG	c.(1663-1677)gtcatagtgaaagac>gac	p.VIVK555del	CLSPN_uc009vux.3_Intron	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	555					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGCCCATGTCTTTCACTATGACGTTCACATT	0.481													---	68	---	---	28	---					
HGFAC	3083	broad.mit.edu	37	4	3447064	3447064	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr4:3447064delC	uc003ghc.3	+	8	1092	c.1089delC	c.(1087-1089)cgcfs	p.R363fs	HGFAC_uc010icw.3_Frame_Shift_Del_p.R363fs	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	363	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGTACTGCCGCCTGGAGGCCT	0.677													---	4	---	---	2	---					
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	-	-			TCGA-GF-A6C8-06A-12D-A30X-08	TCGA-GF-A6C8-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5ba1709-2930-4f57-b52a-ba46fe4f316a	e786df8a-2675-42bd-8aa8-158c4a24fa68	g.chr7:30634583_30634585delCTG	uc003tbm.3	+	0	403_405	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	LOC401320_uc003tbj.2_5'Flank|LOC401320_uc010kvv.3_5'Flank	NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749													---	24	---	---	7	---					
