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
CYP2C8	1558	broad.mit.edu	37	10	96798747	96798747	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:96798747C>T	uc001kkb.3	-	7	1293	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CYP2C8_uc010qoa.2_Missense_Mutation_p.E330K|CYP2C8_uc010qoc.2_Missense_Mutation_p.E298K|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.E314K|CYP2C8_uc021pwl.1_Missense_Mutation_p.E330K|CYP2C8_uc010qod.1_3'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	400					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTAGGAAATTCTTTGTCATCA	0.383000														22			19		0	0	0.000132079	0	0
BTK	695	broad.mit.edu	37	X	100615596	100615596	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:100615596C>T	uc010nno.2	-	7	1071	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Missense_Mutation_p.E246K|BTK_uc010nnn.2_Missense_Mutation_p.E246K|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.3_Missense_Mutation_p.E246K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	246			Missing (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGTTGCTTTCCTCCAAGATA	0.473000									Agammaglobulinemia, X-linked					23			34		0	0	0.00058488	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938769	31938770	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:31938769_31938770CG>AT	uc003nyp.1	-	2	844_845	c.511_512CG>AT	c.(511-513)cgg>ATg	p.R171M	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	171							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCTCTGGGCCCGAGCGTTCGGT	0.589000														788			19		0	0	6.4e-05	0	0
INTS5	80789	broad.mit.edu	37	11	62416686	62416686	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62416686G>A	uc001nud.3	-	1	919	c.866C>T	c.(865-867)cCc>cTc	p.P289L	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	289					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGCAATCTTGGGCACCCGTTT	0.597000														15			13		0	0	0.000219431	0	0
ANKRD42	338699	broad.mit.edu	37	11	82922398	82922398	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:82922398G>A	uc010rsv.1	+	4	934	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	ANKRD42_uc009yvi.2_Missense_Mutation_p.R171Q|ANKRD42_uc001ozz.1_Missense_Mutation_p.R143Q|ANKRD42_uc001paa.3_Missense_Mutation_p.R171Q|ANKRD42_uc001pab.1_Missense_Mutation_p.R170Q			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	143										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTTCATGGGCGGCTTGGCTGC	0.408000														40			30		0	0	0.000279167	0	0
COL3A1	1281	broad.mit.edu	37	2	189868749	189868749	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:189868749G>A	uc002uqj.1	+	38	2820	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	901	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTCCAGGCAAGGATGGGCCCC	0.502000														2			12		0	0	0.000978159	0	0
IDE	3416	broad.mit.edu	37	10	94220977	94220977	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:94220977T>A	uc001kia.3	-	21	2870	c.2794A>T	c.(2794-2796)Acc>Tcc	p.T932S	IDE_uc010qnp.2_Missense_Mutation_p.T377S|IDE_uc001khz.3_Missense_Mutation_p.T377S	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	932					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCCTTGGTAAGTGTCTTT	0.323000														207			46		0	0	0.000781405	0	0
WDR47	22911	broad.mit.edu	37	1	109538320	109538321	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:109538320_109538321GG>TT	uc001dwl.3	-	7	1972_1973	c.1596_1597CC>AA	c.(1594-1599)ccccaa>ccAAaa	p.Q533K	WDR47_uc001dwi.3_Missense_Mutation_p.Q526K|WDR47_uc001dwj.3_Missense_Mutation_p.Q525K|WDR47_uc001dwk.2_Missense_Mutation_p.Q497K|WDR47_uc010ovf.2_Missense_Mutation_p.Q452K	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	525										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAGTCTTGGGGTGGTGTAG	0.416000														527			12		0	0	6.4e-05	0	0
C7orf62	219557	broad.mit.edu	37	7	88423705	88423705	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:88423705G>A	uc003ujv.3	-	1	734	c.552C>T	c.(550-552)taC>taT	p.Y184Y	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.Y184Y	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	184										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGGCAAAGGTAGAGTGACA	0.423000														85			32		0	0	0.000339439	0	0
NEDD4L	23327	broad.mit.edu	37	18	55996240	55996240	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:55996240G>A	uc002lgy.3	+	9	977	c.694G>A	c.(694-696)Gag>Aag	p.E232K	NEDD4L_uc002lgz.3_Missense_Mutation_p.E232K|NEDD4L_uc002lgx.3_Missense_Mutation_p.E232K|NEDD4L_uc010xee.1_Missense_Mutation_p.E111K|NEDD4L_uc002lhc.2_Missense_Mutation_p.E224K|NEDD4L_uc002lhd.2_Missense_Mutation_p.E111K|NEDD4L_uc002lhb.2_Missense_Mutation_p.E111K|NEDD4L_uc002lhe.2_Missense_Mutation_p.E224K|NEDD4L_uc002lhf.3_Missense_Mutation_p.E111K|NEDD4L_uc002lhg.3_Missense_Mutation_p.E111K|NEDD4L_uc002lhh.2_Missense_Mutation_p.E111K|NEDD4L_uc010dpm.1_Missense_Mutation_p.E83K	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	232					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CGTGTCCTCGGAGTCGGACAA	0.587000														16			8		0	0	0.000442599	0	0
AP4B1	10717	broad.mit.edu	37	1	114442652	114442652	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:114442652G>A	uc001eeb.3	-	4	1174	c.988C>T	c.(988-990)Cta>Tta	p.L330L	LOC100287722_uc001edv.1_Non-coding_Transcript|AP4B1_uc001eec.3_Silent_p.L162L|AP4B1_uc010owp.2_Silent_p.L231L|AP4B1_uc001eed.3_Silent_p.L330L|AP4B1_uc001eea.1_Silent_p.L124L|AP4B1_uc001eee.1_5'Flank|AP4B1_uc010owq.2_Silent_p.L237L	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	330					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTTCTGTAGTTTGATGTAG	0.483000														144			83		0	0	0.000781405	0	0
CPLX4	339302	broad.mit.edu	37	18	56985686	56985686	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:56985686G>A	uc002lhy.3	-	0	196	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	3					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TTTTCATAAGGAAAGCCATTT	0.363000														20			17		0	0	0.000422831	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245538	69245538	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:69245538G>A	uc003dnv.2	-	13	1392	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.P20S|FRMD4B_uc011bga.1_Missense_Mutation_p.P212S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	368						cytoplasm|cytoskeleton	binding	p.P314S(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGCTGAAGGAATTTTTGCC	0.363000														43			28		0	0	0.000184323	0	0
SERPING1	710	broad.mit.edu	37	11	57369545	57369545	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:57369545C>G	uc001nkp.1	+	3	779	c.588C>G	c.(586-588)atC>atG	p.I196M	SERPING1_uc010rju.1_Missense_Mutation_p.I144M|SERPING1_uc010rjv.1_Missense_Mutation_p.I201M|SERPING1_uc001nkr.1_Missense_Mutation_p.I196M|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	196					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGGAGAGCATCCTCTCTTACC	0.552000														18			7		0	0	0.000157383	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660609	57660609	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:57660609G>A	uc009zpm.1	-	16	2029	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.S360F|R3HDM2_uc001snr.2_Missense_Mutation_p.S392F|R3HDM2_uc001sns.2_Missense_Mutation_p.S665F|R3HDM2_uc001snt.2_Missense_Mutation_p.S679F	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	665	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AAACCCTACAGAAGGGCTGGG	0.567000														7			6		0	0	8.12818e-05	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:56423937C>T	uc010ygg.2	-	4	1271	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000														20			6		0	0	3.59834e-05	0	0
BRF1	2972	broad.mit.edu	37	14	105693012	105693013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:105693012_105693013GG>AA	uc001yqp.2	-	7	1236_1237	c.873_874CC>TT	c.(871-876)cccccc>ccTTcc	p.P292S	BRF1_uc010tyo.1_Missense_Mutation_p.P177S|BRF1_uc010typ.1_Missense_Mutation_p.P177S|BRF1_uc001yql.2_Missense_Mutation_p.P88S|BRF1_uc001yqo.2_Missense_Mutation_p.P54S|BRF1_uc010axg.1_Missense_Mutation_p.P265S|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript|BRF1_uc010axj.1_Non-coding_Transcript	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	292					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTGTACGAGGGGGGGTCGCACT	0.579000														23			10		0	0	6.4e-05	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600066	3600066	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:3600066G>A	uc002lyg.2	-	1	954	c.567C>T	c.(565-567)gcC>gcT	p.A189A	TBXA2R_uc021umv.1_Silent_p.A189A	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	189					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCCCGGACTCGGCGCCCAGCG	0.711000														16			5		0	0	0.000274275	0	0
ANGPT4	51378	broad.mit.edu	37	20	858863	858863	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:858863G>A	uc002wei.3	-	6	1264	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	ANGPT4_uc010zpn.2_Silent_p.G381G	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	387	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGGCCTCGTGGCCTTCCCAGT	0.622000														15			7		0	0	8.12818e-05	0	0
ACSM4	341392	broad.mit.edu	37	12	7479638	7479638	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:7479638G>A	uc001qsx.1	+	11	1603	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	535					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTAACTCTTGAACTTCAGGA	0.378000														13			7		0	0	0.000157383	0	0
TRRAP	8295	broad.mit.edu	37	7	98581893	98581893	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:98581893C>T	uc003upp.3	+	59	9421	c.9212C>T	c.(9211-9213)cCt>cTt	p.P3071L	TRRAP_uc011kis.2_Missense_Mutation_p.P3042L|TRRAP_uc003upr.3_Missense_Mutation_p.P2759L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3071	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)			CCAACTGTTCCTATCGTGGAT	0.478000														63			28		0	0	0.000184323	0	0
XIRP2	129446	broad.mit.edu	37	2	168103996	168103996	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:168103996C>T	uc002udx.3	+	8	6183	c.6094C>T	c.(6094-6096)Cgt>Tgt	p.R2032C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1857C|XIRP2_uc010fpq.3_Missense_Mutation_p.R1810C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1857					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTCATAGATCGTGAACAAAA	0.388000														23			7		0	0	8.12818e-05	0	0
MAN2A2	4122	broad.mit.edu	37	15	91450600	91450601	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:91450600_91450601CC>AA	uc010bnz.2	+	7	1186_1187	c.1071_1072CC>AA	c.(1069-1074)ccccat>ccAAat	p.H358N	MAN2A2_uc010boa.3_Missense_Mutation_p.H400N|MAN2A2_uc002bqc.3_Missense_Mutation_p.H358N|MAN2A2_uc010uql.2_Missense_Mutation_p.H62N|MAN2A2_uc010uqm.2_Missense_Mutation_p.P4Q	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	358					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGACGTCCCCCATACCTGTGG	0.579000														712			12		0	0	6.4e-05	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195936284	195936284	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:195936284C>T	uc003fwc.3	-	2	485	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	124						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GTGGTAAGTCCGGGGCGGGCG	0.657000														2			3		0	0	6.4e-05	0	0
DNAH3	55567	broad.mit.edu	37	16	20946803	20946803	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:20946803C>T	uc010vbe.2	-	60	11864	c.11864G>A	c.(11863-11865)tGg>tAg	p.W3955*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.W1390*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3955					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.W3955L(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGTCAATCCATTCCTGGAG	0.383000														20			6		0	0	3.59834e-05	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	78942	78942	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrGL000219.1:78942G>A	uc022brb.1	-	5	557	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TGGAAGCTCTGAAATTTCTTT	0.289000														266			29		0	0	0.00106085	0	0
PRLR	5618	broad.mit.edu	37	5	35084616	35084616	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:35084616C>T	uc003jjm.3	-	4	888	c.329G>A	c.(328-330)gGa>gAa	p.G110E	PRLR_uc003jjk.1_Missense_Mutation_p.G39E|PRLR_uc003jjg.2_Missense_Mutation_p.G110E|PRLR_uc003jjh.2_Missense_Mutation_p.G110E|PRLR_uc003jji.2_Missense_Mutation_p.G39E|PRLR_uc003jjj.2_Missense_Mutation_p.G110E|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Missense_Mutation_p.G110E|PRLR_uc010iuw.1_Missense_Mutation_p.G39E	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	110	Fibronectin type-III 1.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAAACTGCTTCCCATCTGGTT	0.468000														79			41		0	0	0.000781405	0	0
MAP3K2	10746	broad.mit.edu	37	2	128081558	128081558	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:128081558G>A	uc002toj.2	-	9	858	c.758C>T	c.(757-759)cCt>cTt	p.P253L		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	253					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CTCAAAGATAGGGTTATCATA	0.259000														11			7		0	0	8.12818e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100551902	100551903	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:100551902_100551903GG>TT	uc003uxl.1	+	0	1153_1154	c.353_354GG>TT	c.(352-354)agg>aTT	p.R118I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTTCACTAGGGGAAGTACGT	0.436000														487			10		0	0	6.4e-05	0	0
SGK2	10110	broad.mit.edu	37	20	42196349	42196349	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:42196349G>A	uc002xkv.3	+	2	530	c.311G>A	c.(310-312)gGg>gAg	p.G104E	SGK2_uc002xkr.3_Missense_Mutation_p.G44E|SGK2_uc010ggm.3_Missense_Mutation_p.G44E|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.G44E|SGK2_uc002xkq.1_Missense_Mutation_p.G44E	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	104	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATCGGCAAAGGGAACTACGGG	0.552000														27			15		0	0	0.000566183	0	0
GRM7	2917	broad.mit.edu	37	3	7188320	7188320	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:7188320G>A	uc003bqm.2	+	1	975	c.701G>A	c.(700-702)gGt>gAt	p.G234D	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G234D|GRM7_uc003bql.2_Missense_Mutation_p.G234D	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	234					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGAGAGAAAGGTGTGGAGTCC	0.498000														32			11		0	0	0.000151284	0	0
NFIX	4784	broad.mit.edu	37	19	13136080	13136080	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:13136080C>T	uc010xmx.2	+	1	350	c.297C>T	c.(295-297)ttC>ttT	p.F99F	NFIX_uc002mwd.3_Silent_p.F91F|NFIX_uc002mwe.3_Silent_p.F83F|NFIX_uc002mwf.3_Silent_p.F94F|NFIX_uc002mwg.2_Silent_p.F90F			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	91					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCGAGGACTTCGTGCTGACCA	0.652000														19			10		0	0	0.000978159	0	0
GMDS	2762	broad.mit.edu	37	6	1961196	1961196	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:1961196G>A	uc003mtq.3	-	4	562	c.350C>T	c.(349-351)tCc>tTc	p.S117F	GMDS_uc021ykn.1_Missense_Mutation_p.S87F	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	117					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GAGGTCAAAGGAAATCTGGAA	0.468000														8			23		0	0	0.000229342	0	0
ZDBF2	57683	broad.mit.edu	37	2	207146584	207146584	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:207146584G>A	uc002vbp.2	+	2	261	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	4							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGCAGAAAAGACAAGGATAT	0.338000														29			12		0	0	0.000566183	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964028	7964028	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:7964028G>A	uc002mir.3	+	2	722	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	207						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGAAAGTGCTGGCGGAACCGG	0.622000														24			4		0	0	0.00024832	0	0
EPHB2	2048	broad.mit.edu	37	1	23235526	23235526	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:23235526C>T	uc009vqj.1	+	12	2509	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	EPHB2_uc001bge.3_Silent_p.I789I|EPHB2_uc001bgf.3_Silent_p.I788I|EPHB2_uc010odu.2_Silent_p.I730I	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	788	Protein kinase.			I -> F (in Ref. 5; AAA74244).	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)		GCGGAAAGATCCCCATCCGCT	0.592000														14			9		0	0	0.000274275	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604379	31604379	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:31604379C>T	uc003nvb.4	+	26	6177	c.5928C>T	c.(5926-5928)gcC>gcT	p.A1976A	PRRC2A_uc003nvc.4_Silent_p.A1976A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1976	3 X 50 AA type C 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						GGGCTCCTGCCCAGCAGGTAT	0.522000														111			22		0	0	0.000229342	0	0
DIDO1	11083	broad.mit.edu	37	20	61512461	61512461	+	Missense_Mutation	SNP	G	A	A	rs140993487	by1000genomes	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61512461G>A	uc002ydr.2	-	15	5159	c.4847C>T	c.(4846-4848)tCt>tTt	p.S1616F	DIDO1_uc002yds.2_Missense_Mutation_p.S1616F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1616					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCAGGGGGAAGAGGCTGGCTC	0.711000														9			6		0	0	8.12818e-05	0	0
ITIH2	3698	broad.mit.edu	37	10	7745421	7745421	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:7745421C>T	uc001ijs.3	+	0	186	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	8					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						CGTGCTTTTTCATCTGCTTCT	0.428000														59			15		0	0	0.000566183	0	0
BTNL8	79908	broad.mit.edu	37	5	180377475	180377476	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:180377475_180377476CC>TT	uc003mmp.3	+	7	1668_1669	c.1434_1435CC>TT	c.(1432-1437)atccca>atTTca	p.P479S	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Missense_Mutation_p.P354S|BTNL8_uc010jlm.3_Missense_Mutation_p.P363S|BTNL8_uc011dhh.2_Missense_Mutation_p.P295S	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	479						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTGCAATCCCAGAGACAAG	0.510000														14			30		0	0	6.4e-05	0	0
E2F8	79733	broad.mit.edu	37	11	19247016	19247016	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:19247016G>A	uc001mpm.3	-	11	2695	c.2173C>T	c.(2173-2175)Ccc>Tcc	p.P725S	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.P725S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	725					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCTGGATGGGAACAGGGTGG	0.552000														35			10		0	0	0.000673444	0	0
DISC1	27185	broad.mit.edu	37	1	231830537	231830537	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:231830537C>T	uc010pxh.2	+	1	1086	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DISC1_uc010pwe.2_Missense_Mutation_p.R300W|DISC1_uc010pwf.2_Missense_Mutation_p.R300W|DISC1_uc010pwj.1_Missense_Mutation_p.R334W|DISC1_uc010pwk.1_Missense_Mutation_p.R334W|DISC1_uc010pwg.1_Missense_Mutation_p.R334W|DISC1_uc010pwh.1_Missense_Mutation_p.R300W|DISC1_uc010pwi.1_Missense_Mutation_p.R300W|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.R345W|DISC1_uc010pwo.2_Missense_Mutation_p.R345W|DISC1_uc010pwq.2_Missense_Mutation_p.R345W|DISC1_uc010pwr.1_Missense_Mutation_p.R345W|DISC1_uc010pws.1_Missense_Mutation_p.R345W|DISC1_uc010pwt.1_Missense_Mutation_p.R345W|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.R345W|DISC1_uc001huy.3_Missense_Mutation_p.R345W|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.R345W|DISC1_uc010pxc.1_Missense_Mutation_p.R345W|DISC1_uc010pxe.2_Missense_Mutation_p.R345W|DISC1_uc010pxf.2_Missense_Mutation_p.R345W|DISC1_uc010pxg.2_Missense_Mutation_p.R345W|DISC1_uc010pxd.2_Missense_Mutation_p.P13L|DISC1_uc009xfr.3_Missense_Mutation_p.R300W|DISC1_uc010pxn.1_Missense_Mutation_p.P13L|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Missense_Mutation_p.P13L|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.R345W|DISC1_uc001huz.3_Missense_Mutation_p.R345W|DISC1_uc001hva.3_Missense_Mutation_p.R345W|DISC1_uc010pwm.2_Missense_Mutation_p.R345W|DISC1_uc001hvc.3_Missense_Mutation_p.R345W|DISC1_uc010pwn.1_Missense_Mutation_p.R345W|DISC1_uc021pkn.1_Missense_Mutation_p.R345W|DISC1_uc001hux.1_Missense_Mutation_p.R345W	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	345	Interaction with TRAF3IP1.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding	p.R345Q(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCTGAGAAACCGGAGGCAGAT	0.612000														13			5		0	0	0.000602214	0	0
FER1L6	654463	broad.mit.edu	37	8	125076649	125076649	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:125076649C>T	uc003yqw.3	+	25	3596	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1130						integral to membrane		p.P1130P(2)		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)			CCCAGGATCCCCCAGCAGATC	0.572000														75			41		0	0	0.000781405	0	0
AHNAK	79026	broad.mit.edu	37	11	62291166	62291166	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62291166G>A	uc001ntl.3	-	4	11023	c.10723C>T	c.(10723-10725)Cca>Tca	p.P3575S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3575					nervous system development	nucleus	protein binding	p.P3575S(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACCTCTGGCCCTTTCAGA	0.468000														101			56		0	0	0.000781405	0	0
TBC1D5	9779	broad.mit.edu	37	3	17202654	17202654	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:17202654G>A	uc010hev.3	-	23	2519	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	TBC1D5_uc010heu.3_Missense_Mutation_p.S317F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S730F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S730F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	730						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GCCGGAGAAGGAGCCCCTGGC	0.572000														22			10		0	0	0.000442599	0	0
MALT1	10892	broad.mit.edu	37	18	56376661	56376661	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:56376661C>T	uc002lhm.1	+	4	959	c.701C>T	c.(700-702)aCt>aTt	p.T234I	MALT1_uc002lhn.1_Missense_Mutation_p.T234I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	234	Ig-like C2-type 2.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GTTGAACCAACTTCCCAAAAG	0.358000			T	BIRC3	MALT									38			18		0	0	0.000229342	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900554	28900554	+	RNA	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:28900554C>T	uc010uan.1	+	2		c.485C>T			HERC2P9_uc010azc.3_Non-coding_Transcript|HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		CTCTGACGTGCCGTTACTCAG	0.572000														25			6		0	0	3.59834e-05	0	0
ZDHHC11	79844	broad.mit.edu	37	5	837498	837498	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:837498C>T	uc011cma.1	-	5	1266	c.882G>A	c.(880-882)atG>atA	p.M294I	ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	294						integral to membrane	acyltransferase activity|zinc ion binding	p.M294I(3)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTCCTTTGTCCATTTGCACGT	0.483000														56			31		0	0	0.000409698	0	0
GYG2	8908	broad.mit.edu	37	X	2772069	2772069	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:2772069C>T	uc004cqs.1	+	4	573	c.291C>T	c.(289-291)atC>atT	p.I97I	GYG2_uc004cqu.1_Silent_p.I66I|GYG2_uc004cqx.2_Silent_p.I97I|GYG2_uc004cqt.1_Silent_p.I66I|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Silent_p.I57I|GYG2_uc010ndc.1_5'Flank	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	97					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				TGAATCTAATCGATAGTGCCG	0.502000														15			18		0	0	0.000175454	0	0
TRIM27	5987	broad.mit.edu	37	6	28872083	28872083	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:28872083C>A	uc003nlr.3	-	7	1665	c.1306G>T	c.(1306-1308)Gtg>Ttg	p.V436L	TRIM27_uc003nls.3_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	436	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AAAATCCCCACCCGCTGGAGC	0.532000			T	RET	papillary thyroid									27			97		9.99625e-28	1.02705e-26	0.000781405	1	0
FGFR4	2264	broad.mit.edu	37	5	176517623	176517623	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:176517623C>T	uc003mfl.3	+	2	491	c.324C>T	c.(322-324)atC>atT	p.I108I	FGFR4_uc003mfm.3_Silent_p.I108I|FGFR4_uc011dfu.2_Silent_p.I108I|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Silent_p.I108I|FGFR4_uc011dfw.1_Silent_p.I108I|FGFR4_uc003mfo.3_Silent_p.I108I	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	108	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCTCCATGATCGTCCTGCAGA	0.597000										TSP Lung(9;0.080)				16			7		0	0	8.12818e-05	0	0
C12orf63	374467	broad.mit.edu	37	12	97043713	97043713	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:97043713G>A	uc021rcc.1	+	1	88	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	4										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATGAGTGATGAAAATATGTC	0.318000														31			16		0	0	0.000132079	0	0
NBEAL1	65065	broad.mit.edu	37	2	203906494	203906494	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:203906494C>T	uc002uzt.3	+	2	391	c.58C>T	c.(58-60)Cca>Tca	p.P20S	NBEAL1_uc002uzq.3_Missense_Mutation_p.P20S|NBEAL1_uc010zid.1_5'UTR|NBEAL1_uc010zie.1_Non-coding_Transcript	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	20							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGAAAGATCCAGATTACCT	0.338000														255			51		0	0	0.000781405	0	0
CELSR2	1952	broad.mit.edu	37	1	109812152	109812152	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:109812152C>T	uc001dxa.4	+	20	6980	c.6919C>T	c.(6919-6921)Cgc>Tgc	p.R2307C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2307					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGCAGTTCCGCCTGCTGGA	0.612000														186			92		0	0	0.000781405	0	0
HPCA	3208	broad.mit.edu	37	1	33354742	33354742	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:33354742C>T	uc001bwh.3	+	1	283	c.243C>T	c.(241-243)gaC>gaT	p.D81D		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	81	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GCACCATAGACTTTCGGGAGT	0.567000														46			29		0	0	0.000491102	0	0
DOM3Z	1797	broad.mit.edu	37	6	31937781	31937781	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:31937781C>A	uc003nyp.1	-	6	1397	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	DOM3Z_uc003nyq.1_Missense_Mutation_p.W96L|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	355							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCCAGGCTCCCAAGAGAAGAG	0.587000														501			9		0.000274275	0.00275091	0.000274275	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69009419	69009419	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:69009419G>A	uc010fdg.3	+	2	735	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ARHGAP25_uc010yqk.2_Missense_Mutation_p.E80K|ARHGAP25_uc010yql.2_Missense_Mutation_p.E106K|ARHGAP25_uc002sev.3_Missense_Mutation_p.E99K|ARHGAP25_uc002sew.3_Missense_Mutation_p.E99K|ARHGAP25_uc002sex.3_Missense_Mutation_p.E99K|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	106	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAACCCAGAAGAAGCTGGGAA	0.443000														57			19		0	0	0.000295444	0	0
EPHA1	2041	broad.mit.edu	37	7	143092274	143092274	+	Splice_Site	SNP	T	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:143092274T>A	uc003wcz.3	-	13	2171	c.2084_splice	c.e13-1	p.R695_splice		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	695	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGATCGGCTTTCCTGAGACAC	0.557000														45			38		0	0	0.00111076	0	0
DST	667	broad.mit.edu	37	6	56391321	56391321	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:56391321G>A	uc003pcy.4	-	49	10206	c.10098C>T	c.(10096-10098)tcC>tcT	p.S3366S		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5778					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCATTAAGGGAGTCCAGTA	0.418000														243			31		0	0	0.00111076	0	0
OR51I1	390063	broad.mit.edu	37	11	5462628	5462628	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:5462628G>A	uc010qze.2	-	0	156	c.117C>T	c.(115-117)atC>atT	p.I39I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACAATGGAGATCATGTAGA	0.522000														37			10		0	0	0.000673444	0	0
C18orf1	753	broad.mit.edu	37	18	13645128	13645128	+	Silent	SNP	C	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:13645128C>A	uc002ksa.2	+	6	1061	c.393C>A	c.(391-393)atC>atA	p.I131I	C18orf1_uc002ksb.2_Silent_p.I113I|C18orf1_uc002kse.2_Silent_p.I94I|C18orf1_uc002ksf.2_Silent_p.I76I|C18orf1_uc002ksg.1_Silent_p.I54I|C18orf1_uc002ksh.1_Silent_p.I73I|C18orf1_uc002ksi.1_Silent_p.I55I	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	131						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		CCTTCCAGATCATGCATGCCC	0.537000														48			11		7.03913e-09	7.18844e-08	0.00010058	1	0
ZDBF2	57683	broad.mit.edu	37	2	207174275	207174275	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:207174275C>T	uc002vbp.2	+	4	5273	c.5023C>T	c.(5023-5025)Cga>Tga	p.R1675*		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1675							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CACTTCTCATCGAACGACTCA	0.408000														22			25		0	0	0.000878237	0	0
KCNV1	27012	broad.mit.edu	37	8	110980770	110980770	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:110980770G>A	uc003ynr.4	-	2	1854	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	KCNV1_uc010mcw.3_Silent_p.L350L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	350						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGAAATAGGAGCAGTAGGC	0.458000														24			12		0	0	0.000151284	0	0
CSMD1	64478	broad.mit.edu	37	8	3000081	3000081	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:3000081G>A	uc022aqr.1	-	40	6537	c.6147C>T	c.(6145-6147)ctC>ctT	p.L2049L	CSMD1_uc011kwj.2_Silent_p.L1442L|CSMD1_uc010lrg.3_Silent_p.L118L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2050	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGCCGCGGGGAGATCCGTGC	0.463000														46			34		0	0	0.00058488	0	0
APOB	338	broad.mit.edu	37	2	21231052	21231053	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:21231052_21231053GG>TT	uc002red.3	-	25	8815_8816	c.8687_8688CC>AA	c.(8686-8688)ccc>cAA	p.P2896Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2896					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)	AGTCCAGTTTGGGGATGTTCAA	0.431000														437			8		0	0	6.4e-05	0	0
NLRP3	114548	broad.mit.edu	37	1	247587438	247587438	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:247587438G>A	uc001icr.3	+	4	831	c.693G>A	c.(691-693)ggG>ggA	p.G231G	NLRP3_uc001ics.3_Silent_p.G231G|NLRP3_uc001icu.3_Silent_p.G231G|NLRP3_uc001icw.3_Silent_p.G231G|NLRP3_uc001icv.3_Silent_p.G231G|NLRP3_uc010pyw.2_Silent_p.G229G|NLRP3_uc001ict.1_Silent_p.G229G	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	231	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G231R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGGATTGGGAAAACAATCC	0.542000														20			9		0	0	0.000274275	0	0
CSMD2	114784	broad.mit.edu	37	1	34191090	34191090	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:34191090C>T	uc001bxm.1	-	16	2732	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R812Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	812	CUB 5.					integral to membrane|plasma membrane	protein binding	p.R812Q(1)		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)				TGAGTAAGTCCGCCCATCGCG	0.502000														23			16		0	0	0.00074312	0	0
ATF6B	1388	broad.mit.edu	37	6	32084514	32084515	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:32084514_32084515CC>AA	uc003nzn.3	-	15	1796_1797	c.1763_1764GG>TT	c.(1762-1764)cgg>cTT	p.R588L	TNXB_uc010jts.1_5'UTR|ATF6B_uc003nzm.1_Missense_Mutation_p.R161L|ATF6B_uc003nzo.3_Missense_Mutation_p.R585L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	588					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R588L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATGTGTCTTCCCGTCGGTCAAT	0.545000														280			7		0	0	6.4e-05	0	0
AK311167	0	broad.mit.edu	37	9	69067929	69067929	+	Splice_Site	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:69067929G>A	uc010mnq.2	+	2		c.526_splice	c.e2+1							Homo sapiens cDNA, FLJ18209.																		TGATATGTTGGTGAGTCAGTT	0.279000														8			14		0	0	0.000958276	0	0
MYH7	4625	broad.mit.edu	37	14	23893208	23893208	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:23893208C>T	uc001wjx.3	-	22	2936	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	944					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACTCATCTTCCAGCTTGCGC	0.517000														45			22		0	0	0.000295444	0	0
CDH8	1006	broad.mit.edu	37	16	61858917	61858917	+	Splice_Site	SNP	C	T	T	rs148693252	byFrequency	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:61858917C>T	uc002eog.2	-	5	1790	c.835_splice	c.e5+1	p.S279_splice	CDH8_uc002eoh.3_Splice_Site_p.S48_splice	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	279	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAACTTACTCTGTGCAAATT	0.373000														16			8		0	0	0.000673444	0	0
EPHB1	2047	broad.mit.edu	37	3	134670598	134670598	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:134670598G>A	uc003eqt.3	+	2	884	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	170						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R170L(6)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTCTTACTCGGAATGGTTTT	0.463000														108			55		0	0	0.000781405	0	0
TMC5	79838	broad.mit.edu	37	16	19485576	19485576	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:19485576G>A	uc002dgc.4	+	11	2817	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	TMC5_uc010vaq.2_Missense_Mutation_p.E638K|TMC5_uc002dgb.4_Missense_Mutation_p.E690K|TMC5_uc010var.2_Missense_Mutation_p.E690K|TMC5_uc002dgd.1_Missense_Mutation_p.E444K|TMC5_uc002dge.4_Missense_Mutation_p.E444K|TMC5_uc002dgf.4_Missense_Mutation_p.E373K|TMC5_uc002dgg.4_Missense_Mutation_p.E331K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	690						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCACGGCACGAAGTCTACGT	0.527000														47			24		0	0	0.000375601	0	0
OAS3	4940	broad.mit.edu	37	12	113386841	113386841	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:113386841C>T	uc001tug.3	+	5	1292	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	402	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCTCTGTGCCGGGAATGGCC	0.622000														18			4		0	0	3.59834e-05	0	0
DIDO1	11083	broad.mit.edu	37	20	61542327	61542327	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61542327A>G	uc002ydr.2	-	2	950	c.638T>C	c.(637-639)cTg>cCg	p.L213P	DIDO1_uc002yds.2_Missense_Mutation_p.L213P|DIDO1_uc002ydt.2_Missense_Mutation_p.L213P|DIDO1_uc002ydu.2_Missense_Mutation_p.L213P|DIDO1_uc002ydv.2_Missense_Mutation_p.L213P|DIDO1_uc002ydw.2_Missense_Mutation_p.L213P|DIDO1_uc002ydx.2_Missense_Mutation_p.L213P|DIDO1_uc011aao.1_Missense_Mutation_p.L213P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	213					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTACTGGGCAGGACGCCCTC	0.632000														29			12		0	0	0.000151284	0	0
MMP14	4323	broad.mit.edu	37	14	23311622	23311622	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:23311622C>T	uc001whc.3	+	3	618	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	128						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ACCTCAGCATCCAGAATTACA	0.612000														5			6		0	0	3.59834e-05	0	0
CYP19A1	1588	broad.mit.edu	37	15	51519994	51519994	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:51519994G>A	uc001zyz.4	-	4	684	c.433C>T	c.(433-435)Cga>Tga	p.R145*	CYP19A1_uc001zza.4_Nonsense_Mutation_p.R145*|CYP19A1_uc001zzb.2_Nonsense_Mutation_p.R145*|CYP19A1_uc001zzd.3_Nonsense_Mutation_p.R145*|CYP19A1_uc010bey.1_Nonsense_Mutation_p.R145*	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	145					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AAGAAGGGTCGAGTTGTTTTC	0.363000														34			68		0	0	0.000781405	0	0
GLI4	2738	broad.mit.edu	37	8	144351607	144351607	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:144351607C>T	uc003yxx.3	+	1	126	c.41C>T	c.(40-42)cCg>cTg	p.P14L	ZFP41_uc003yxv.3_Intron	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	14						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCTTCTGTCCCGTCCCCTGTC	0.592000														46			22		0	0	0.000295444	0	0
FAM135A	57579	broad.mit.edu	37	6	71235824	71235824	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:71235824C>T	uc003pfj.3	+	12	3170	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	FAM135A_uc003pfi.3_Missense_Mutation_p.P817S|FAM135A_uc003pfh.3_Missense_Mutation_p.P800S|FAM135A_uc003pfl.3_Missense_Mutation_p.P680S|FAM135A_uc003pfn.3_Missense_Mutation_p.P219S|FAM135A_uc003pfo.1_Missense_Mutation_p.P384S|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1013										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCAGAAATCCCTACAGTTGA	0.338000														22			59		0	0	0.000781405	0	0
SCN7A	6332	broad.mit.edu	37	2	167262185	167262185	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:167262185G>A	uc002udu.2	-	24	5084	c.4954C>T	c.(4954-4956)Cat>Tat	p.H1652Y	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1652					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTATCATATGAATATCTGAT	0.363000														100			62		0	0	0.000781405	0	0
MAN2A2	4122	broad.mit.edu	37	15	91454684	91454685	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:91454684_91454685CC>AA	uc010bnz.2	+	13	2128_2129	c.2013_2014CC>AA	c.(2011-2016)ccccgc>ccAAgc	p.R672S	MAN2A2_uc002bqc.3_Missense_Mutation_p.R672S|MAN2A2_uc010uql.2_Missense_Mutation_p.R334S|MAN2A2_uc010uqm.2_Missense_Mutation_p.R251S|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	672					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCAACTCTCCCCGCGTGCGTGT	0.624000														655			13		0	0	6.4e-05	0	0
ANKMY1	51281	broad.mit.edu	37	2	241452226	241452226	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:241452226G>A	uc010fzd.1	-	9	2263	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ANKMY1_uc002vzb.1_Missense_Mutation_p.P385L|ANKMY1_uc002vzc.1_Missense_Mutation_p.P483L|ANKMY1_uc002vyz.1_Missense_Mutation_p.P624L|ANKMY1_uc002vza.1_Missense_Mutation_p.P483L|ANKMY1_uc002vzd.1_Missense_Mutation_p.P483L	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	624							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACCTTGCCGGGCTTGTAAGT	0.612000														6			5		0	0	0.000157383	0	0
OR1M1	125963	broad.mit.edu	37	19	9204819	9204819	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:9204819C>T	uc010xkj.2	+	0	899	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGAAAGGGGCTCTCAGGAAG	0.512000														22			6		0	0	8.12818e-05	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:69067873A>T	uc010mnq.2	+	1		c.471A>T								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000														5			7		0	0	0.000157383	0	0
TIMD4	91937	broad.mit.edu	37	5	156378677	156378678	+	Missense_Mutation	DNP	GG	TT	TT	rs150170341		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:156378677_156378678GG>TT	uc003lwh.2	-	2	581_582	c.524_525CC>AA	c.(523-525)ccc>cAA	p.P175Q	TIMD4_uc010jii.2_Missense_Mutation_p.P175Q	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	175	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGTGAGATCGGGTGTGGTCAC	0.545000														478			15		0	0	6.4e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100551777	100551777	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:100551777C>T	uc003uxl.1	+	0	1028	c.228C>T	c.(226-228)atC>atT	p.I76I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.T76T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGAGCACGATCGTGTCAACAT	0.473000														290			89		0	0	0.000781405	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817563	24817563	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:24817563A>G	uc002dmm.3	+	15	4402	c.4288A>G	c.(4288-4290)Aga>Gga	p.R1430G	TNRC6A_uc010bxs.3_Missense_Mutation_p.R1177G|TNRC6A_uc002dmn.3_Missense_Mutation_p.R1128G|TNRC6A_uc002dmo.3_Missense_Mutation_p.R1069G|TNRC6A_uc002dmp.3_Missense_Mutation_p.R31G|TNRC6A_uc002dmq.3_Missense_Mutation_p.R97G	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1430					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAGAGTCAGAGAAGCGTGCC	0.502000														28			11		0	0	0.00010058	0	0
NLRP1	22861	broad.mit.edu	37	17	5461774	5461774	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:5461774C>T	uc002gci.3	-	3	2797	c.2242G>A	c.(2242-2244)Gac>Aac	p.D748N	NLRP1_uc002gcg.1_Missense_Mutation_p.D748N|NLRP1_uc002gch.4_Missense_Mutation_p.D748N|NLRP1_uc002gck.3_Missense_Mutation_p.D748N|NLRP1_uc002gcj.3_Missense_Mutation_p.D748N|NLRP1_uc002gcl.3_Missense_Mutation_p.D748N|NLRP1_uc010clh.3_Missense_Mutation_p.D748N	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	748					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTCCATGTCTGTTTCTACA	0.502000														55			25		0	0	0.000279167	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073094	15073094	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:15073094C>T	uc002naa.1	-	4	662	c.655G>A	c.(655-657)Gag>Aag	p.E219K	SLC1A6_uc010dzu.1_Missense_Mutation_p.E219K|SLC1A6_uc010xod.1_Missense_Mutation_p.E155K|SLC1A6_uc002nab.3_Missense_Mutation_p.E219K|SLC1A6_uc002nac.3_Missense_Mutation_p.E219K	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	219					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCACCCGGCTCAGACCCGTTC	0.552000														69			27		0	0	0.000339439	0	0
LYZL6	57151	broad.mit.edu	37	17	34263770	34263770	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:34263770C>T	uc002hkj.2	-	2	566	c.366G>A	c.(364-366)ggG>ggA	p.G122G	LYZL6_uc002hkk.2_Silent_p.G122G	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G122V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGTTCATCCCCCGTGCTC	0.572000														46			29		0	0	0.00058488	0	0
CABP4	57010	broad.mit.edu	37	11	67223182	67223182	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:67223182C>T	uc001olo.3	+	0	365	c.288C>T	c.(286-288)tcC>tcT	p.S96S	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_5'UTR	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	96					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCGCCAGTCCCACCGACATC	0.682000														11			3		0	0	0.00024832	0	0
USP34	9736	broad.mit.edu	37	2	61512070	61512070	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:61512070C>T	uc002sbe.3	-	34	4794	c.4772G>A	c.(4771-4773)gGa>gAa	p.G1591E		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1591					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAACTGGTTCCTTGGACAAG	0.308000														21			4		0	0	0.000602214	0	0
AV4S1	0	broad.mit.edu	37	14	22671127	22671127	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:22671127G>A	uc021rpv.1	+	1	182	c.147G>A	c.(145-147)gtG>gtA	p.V49V	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		CAGAGTACGTGATTCATGGTC	0.478000														26			8		0	0	0.000157383	0	0
STMN2	11075	broad.mit.edu	37	8	80553689	80553689	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:80553689C>T	uc022awk.1	+	2	574	c.192C>T	c.(190-192)atC>atT	p.I64I	STMN2_uc003ybj.3_Silent_p.I64I|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	64	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CATCTCCTATCTCAGAAGCCC	0.458000														32			15		0	0	0.000308642	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123476185	123476185	+	Splice_Site	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:123476185C>T	uc001pyw.2	+	10	1244	c.915_splice	c.e10+1	p.S305_splice	GRAMD1B_uc001pyx.2_Splice_Site_p.S298_splice|GRAMD1B_uc010rzw.2_Splice_Site_p.S258_splice|GRAMD1B_uc010rzx.1_Splice_Site_p.S258_splice|GRAMD1B_uc009zbe.1_Splice_Site_p.S294_splice|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	298						integral to membrane		p.S298*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCCCCGTCTCGGTATGGGCA	0.562000														48			13		0	0	0.000422831	0	0
GLUD2	2747	broad.mit.edu	37	X	120182576	120182576	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:120182576G>A	uc004eto.3	+	0	1115	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	346					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGACCCAAAGGAACTGGAAG	0.448000														65			20		0	0	0.000229342	0	0
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:22940373T>C	uc021urt.1	-	3	2493	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343000														44			4		0	0	0.00024832	0	0
SPAG17	200162	broad.mit.edu	37	1	118584660	118584660	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:118584660C>T	uc001ehk.2	-	20	2888	c.2820G>A	c.(2818-2820)tgG>tgA	p.W940*	SPAG17_uc021oss.1_Nonsense_Mutation_p.W90*	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	940						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTCTTCTTTCCATGCCTGTA	0.338000														56			36		0	0	0.000692331	0	0
SUOX	6821	broad.mit.edu	37	12	56397658	56397658	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:56397658C>T	uc001six.3	+	5	811	c.485C>T	c.(484-486)cCt>cTt	p.P162L	SUOX_uc001siy.3_Missense_Mutation_p.P162L|SUOX_uc001siz.3_Missense_Mutation_p.P162L|SUOX_uc001sja.3_Missense_Mutation_p.P162L	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAGCTGAATCCTGAAGACAAG	0.567000														28			16		0	0	0.000958276	0	0
PCDH15	65217	broad.mit.edu	37	10	55973787	55973787	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:55973787C>T	uc010qhy.1	-	10	1417	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	PCDH15_uc010qhq.2_Missense_Mutation_p.R341Q|PCDH15_uc010qhr.2_Missense_Mutation_p.R336Q|PCDH15_uc021pqv.1_Missense_Mutation_p.R336Q|PCDH15_uc021pqw.1_Missense_Mutation_p.R341Q|PCDH15_uc010qht.2_Missense_Mutation_p.R336Q|PCDH15_uc021pqx.1_Missense_Mutation_p.R336Q|PCDH15_uc001jjv.1_Missense_Mutation_p.R314Q|PCDH15_uc021pqy.1_Missense_Mutation_p.R336Q|PCDH15_uc021pqz.1_Missense_Mutation_p.R314Q|PCDH15_uc010qhv.1_Missense_Mutation_p.R336Q|PCDH15_uc010qhw.1_Missense_Mutation_p.R299Q|PCDH15_uc010qhx.1_Missense_Mutation_p.R336Q|PCDH15_uc010qhz.1_Missense_Mutation_p.R336Q|PCDH15_uc010qia.1_Missense_Mutation_p.R314Q|PCDH15_uc001jju.1_Missense_Mutation_p.R336Q|PCDH15_uc010qib.1_Missense_Mutation_p.R314Q|PCDH15_uc001jjw.3_Missense_Mutation_p.R336Q	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	336	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGGAAAAATCGTGGGTAATC	0.368000										HNSCC(58;0.16)				26			14		0	0	0.000219431	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433940	37433940	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:37433940G>A	uc021ppc.1	+	7	1342	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E415K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	471						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTTCCCATCAGAATCCAAACA	0.254000														58			11		0	0	0.000219431	0	0
CHRNA3	1136	broad.mit.edu	37	15	78889060	78889060	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:78889060C>T	uc002bec.3	-	5	1905	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*	CHRNA3_uc002beb.3_Intron|CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA3_uc010blg.2_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	468					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAACATACTTCCAATCATCTT	0.388000														28			63		0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884573	228884573	+	Missense_Mutation	SNP	C	T	T	rs148914025		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:228884573C>T	uc002vpq.2	-	6	1044	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E333K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E333K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	333						cytoplasm	protein binding	p.E333K(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTGATTTTTCCATTTGACCT	0.428000														47			16		0	0	0.000308642	0	0
LAMB4	22798	broad.mit.edu	37	7	107708485	107708485	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:107708485C>T	uc010ljo.1	-	18	2506	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	LAMB4_uc003vey.2_Missense_Mutation_p.D808N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	808	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						TGCCCCAAATCATAGCTTCCA	0.552000														154			49		0	0	0.000781405	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728871	3728871	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:3728871T>C	uc002wjd.3	+	7	825	c.683T>C	c.(682-684)cTa>cCa	p.L228P	HSPA12B_uc010zqj.2_Missense_Mutation_p.L62P|HSPA12B_uc010zqi.2_Missense_Mutation_p.L227P|HSPA12B_uc002wje.3_Missense_Mutation_p.L141P	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	228							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CAGGCTGGACTAGTGTCCCGA	0.657000														33			13		0	0	0.000422831	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468588	35468589	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr21:35468588_35468589GG>TT	uc021wir.1	+	0	1091_1092	c.1091_1092GG>TT	c.(1090-1092)cgg>cTT	p.R364L	SLC5A3_uc002yto.3_Missense_Mutation_p.R364L|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	364						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GTGGGCCTTCGGGGTTTAATGA	0.485000														422			11		0	0	6.4e-05	0	0
DNM3	26052	broad.mit.edu	37	1	172100389	172100389	+	Silent	SNP	C	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:172100389C>G	uc001gie.3	+	13	1796	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V	DNM3_uc001gid.4_Silent_p.V540V|DNM3_uc009wwb.2_Silent_p.V540V|DNM3_uc001gif.3_Silent_p.V540V	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	550	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACTGGTTCGTCCTTACTGCGG	0.423000														24			9		0	0	0.000673444	0	0
FXR2	9513	broad.mit.edu	37	17	7496150	7496151	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:7496150_7496151CC>TT	uc002gia.2	-	13	1955_1956	c.1590_1591GG>AA	c.(1588-1593)ccggtt>ccAAtt	p.V531I	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	531						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCTGAATCAACCGGGGGCTCTG	0.614000														30			18		0	0	6.4e-05	0	0
MACF1	23499	broad.mit.edu	37	1	39788666	39788666	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:39788666C>T	uc021olt.1	+	31	4289	c.4237C>T	c.(4237-4239)Ctg>Ttg	p.L1413L	MACF1_uc021ols.1_Silent_p.L1413L|MACF1_uc001cdc.2_Silent_p.L1413L|MACF1_uc001cda.1_Silent_p.L1321L|MACF1_uc009vvq.1_Silent_p.L470L|MACF1_uc001cdb.1_Silent_p.L500L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1413					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCCGGCGTCTGGAGGAGGA	0.483000														53			27		0	0	0.000878237	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296553	28296553	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr21:28296553C>T	uc002ymg.3	-	7	3341	c.2612G>A	c.(2611-2613)gGa>gAa	p.G871E		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	871	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGTGTGTGATCCCACTTTATT	0.522000														45			25		0	0	0.000878237	0	0
MUC2	4583	broad.mit.edu	37	11	1094763	1094764	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:1094763_1094764CC>TA	uc001lsx.1	+	32	5866_5867	c.5839_5840CC>TA	c.(5839-5841)cca>TAa	p.P1947*		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	2015						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AACGCCGACCCCACTCTCCACA	0.634000														50			39		0	0	6.4e-05	0	0
ERO1L	30001	broad.mit.edu	37	14	53150624	53150624	+	Splice_Site	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:53150624A>G	uc001wzv.3	-	2	335	c.115_splice	c.e2-1	p.V39_splice		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	39					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GTAACCACTAACCTGTTACAA	0.358000														39			6		0	0	3.59834e-05	0	0
SLC6A2	6530	broad.mit.edu	37	16	55732385	55732385	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:55732385G>A	uc021tio.1	+	9	1445	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	SLC6A2_uc002eif.3_Missense_Mutation_p.G465E|SLC6A2_uc002eig.3_Missense_Mutation_p.G465E|SLC6A2_uc002eii.3_Missense_Mutation_p.G360E|SLC6A2_uc002eij.3_Missense_Mutation_p.G179E|SLC6A2_uc021tip.1_5'Flank	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	465					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCCAGGGTGGAATTTACGTC	0.527000														13			20		0	0	0.000175454	0	0
PAPSS2	9060	broad.mit.edu	37	10	89472847	89472847	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:89472847G>A	uc001kex.3	+	2	424	c.161G>A	c.(160-162)gGa>gAa	p.G54E	PAPSS2_uc001kew.3_Missense_Mutation_p.G54E|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	54					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TCTGGTGCTGGAAAAACAACG	0.428000														55			40		0	0	0.000781405	0	0
ACSL1	2180	broad.mit.edu	37	4	185698108	185698108	+	Silent	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:185698108A>G	uc003iww.2	-	5	801	c.507T>C	c.(505-507)gcT>gcC	p.A169A	ACSL1_uc011ckm.1_5'UTR|ACSL1_uc003iwt.1_Silent_p.A169A|ACSL1_uc003iwu.1_Silent_p.A169A|ACSL1_uc011ckn.1_Silent_p.A135A	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	169					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATCGAATAAGCAAAGCATC	0.393000														17			11		0	0	0.000151284	0	0
CHD8	57680	broad.mit.edu	37	14	21861911	21861911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:21861911G>A	uc001war.2	-	30	6108	c.6043C>T	c.(6043-6045)Cag>Tag	p.Q2015*	CHD8_uc001was.2_Nonsense_Mutation_p.Q1736*|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2015					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGGGACCTGGGTAGCTGTC	0.582000														6			7		0	0	0.000157383	0	0
CSHL1	1444	broad.mit.edu	37	17	61987583	61987583	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:61987583G>A	uc002jda.1	-	3	472	c.410C>T	c.(409-411)tCg>tTg	p.S137L	CSHL1_uc002jcz.1_Missense_Mutation_p.S114L|CSHL1_uc002jdb.1_Missense_Mutation_p.S43L|CSHL1_uc002jdc.1_Missense_Mutation_p.S54L|CSHL1_uc002jdd.1_Missense_Mutation_p.S75L|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	137						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATCGCTGTCCGAGGTGTCATA	0.582000														20			14		0	0	0.000958276	0	0
SPZ1	84654	broad.mit.edu	37	5	79616184	79616184	+	RNA	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:79616184C>T	uc011ctk.1	-	1		c.1331G>A			SPZ1_uc003kgn.3_Silent_p.L50L			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GGGGCTCTCTCCCTTTCCTAA	0.388000														73			36		0	0	0.000228196	0	0
TRAF1	7185	broad.mit.edu	37	9	123673690	123673690	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:123673690G>A	uc004bku.2	-	5	1379	c.807C>T	c.(805-807)ttC>ttT	p.F269F	TRAF1_uc011lyg.2_Silent_p.F147F|TRAF1_uc010mvl.2_Silent_p.F269F	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	269	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCTTCCACAGGAAAGTGCCAT	0.622000														6			8		0	0	0.000157383	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595818	120595818	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:120595818G>A	uc001txo.3	-	25	2935	c.2922C>T	c.(2920-2922)tcC>tcT	p.S974S	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	974					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)					AGGCTGGCGCGGACAAGGGCG	0.582000														32			16		0	0	0.000422831	0	0
OR14A16	284532	broad.mit.edu	37	1	247978742	247978742	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:247978742G>A	uc001idm.1	-	0	290	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAAGACCTGGGAAACACAGCC	0.453000														28			10		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179597846	179597846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:179597846G>A	uc021vsy.1	-	51	12550	c.12325C>T	c.(12325-12327)Cga>Tga	p.R4109*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R770*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5036							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)			GCAATGTCTCGATCTGTGTGT	0.443000														10			9		0	0	0.000274275	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034238	46034238	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:46034238C>T	uc021omx.1	+	7	1052	c.634C>T	c.(634-636)Cct>Tct	p.P212S	AKR1A1_uc021omy.1_Missense_Mutation_p.P212S|AKR1A1_uc001cod.3_Missense_Mutation_p.P212S|AKR1A1_uc001coe.3_Missense_Mutation_p.P212S|AKR1A1_uc001cof.3_Intron	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	212					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TGCTTATAGCCCTTTGGGCTC	0.537000														18			12		0	0	0.00010058	0	0
BAG6	7917	broad.mit.edu	37	6	31610725	31610726	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:31610725_31610726CC>AA	uc003nvg.4	-	13	2147_2148	c.1833_1834GG>TT	c.(1831-1836)ctgggg>ctTTgg	p.G612W	BAG6_uc003nvf.4_Missense_Mutation_p.G606W|BAG6_uc003nvi.4_Missense_Mutation_p.G606W|BAG6_uc003nvh.4_Missense_Mutation_p.G606W|BAG6_uc011dnw.2_Missense_Mutation_p.G606W|BAG6_uc011dnx.2_Intron	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	612	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGCAGGTTCCCCAGAAGCTGAG	0.649000														484			10		0	0	6.4e-05	0	0
PAPD7	11044	broad.mit.edu	37	5	6748698	6748698	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:6748698C>T	uc003jdx.1	+	7	960	c.831C>T	c.(829-831)gcC>gcT	p.A277A	PAPD7_uc011cmn.2_Silent_p.A277A|PAPD7_uc010itl.1_Silent_p.A97A	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	277					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACAGAGACGCCGAAAGGTAAT	0.522000														82			33		0	0	0.000953801	0	0
DNAH7	56171	broad.mit.edu	37	2	196619217	196619217	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:196619217G>A	uc002utj.4	-	62	11709	c.11608C>T	c.(11608-11610)Cct>Tct	p.P3870S	DNAH7_uc002uti.4_Missense_Mutation_p.P353S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3870					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGACTGGAGGAGGACCAACC	0.453000														11			9		0	0	0.000978159	0	0
ANK1	286	broad.mit.edu	37	8	41543692	41543692	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:41543692G>A	uc003xok.3	-	35	4452	c.4368C>T	c.(4366-4368)atC>atT	p.I1456I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.I772I|ANK1_uc003xoi.3_Silent_p.I1456I|ANK1_uc003xoj.3_Silent_p.I1456I|ANK1_uc003xol.3_Silent_p.I1456I|ANK1_uc003xom.3_Silent_p.I1497I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1456	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.I1456I(2)|p.I1497I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCTTCACGGATGACCCAGA	0.527000														22			20		0	0	0.000295444	0	0
KIAA1737	85457	broad.mit.edu	37	14	77579932	77579932	+	Silent	SNP	G	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:77579932G>T	uc001xtd.3	+	3	650	c.471G>T	c.(469-471)ctG>ctT	p.L157L	KIAA1737_uc001xtc.1_Silent_p.L59L	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	157										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TGCCCATTCTGAATTCTTACA	0.478000														27			17		2.94398e-08	2.98832e-07	0.000958276	1	0
HGF	3082	broad.mit.edu	37	7	81388076	81388076	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:81388076G>A	uc003uhl.3	-	2	464	c.299C>T	c.(298-300)cCc>cTc	p.P100L	HGF_uc003uhm.3_Missense_Mutation_p.P100L|HGF_uc003uhn.1_Missense_Mutation_p.P100L|HGF_uc003uho.1_Missense_Mutation_p.P100L|HGF_uc003uhp.3_Missense_Mutation_p.P100L|HGF_uc022agw.1_Missense_Mutation_p.P100L	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	100	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCTATTGAAGGGGAACCAGAG	0.318000														61			40		0	0	0.000509022	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769433	140769433	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140769433T>C	uc003lkc.2	+	0	1982	c.1982T>C	c.(1981-1983)gTc>gCc	p.V661A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	665	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCACCTGGTCTTCGCCGAC	0.657000														46			8		0	0	0.000274275	0	0
ALK	238	broad.mit.edu	37	2	29432682	29432682	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:29432682C>T	uc002rmy.3	-	24	4758	c.3806G>A	c.(3805-3807)gGa>gAa	p.G1269E	ALK_uc010ymo.2_Missense_Mutation_p.G201E	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1269	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCGAAGTCTCCAATCTTGGC	0.542000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					34			24		0	0	0.000184323	0	0
LRP6	4040	broad.mit.edu	37	12	12356312	12356313	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:12356312_12356313CC>AA	uc001rah.4	-	2	613_614	c.471_472GG>TT	c.(469-474)tgggga>tgTTga	p.157_158WG>C*	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.157_158WG>C*	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	157	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.W157L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCACTTCTCCCCAGTCTGTCC	0.342000														413			11		0	0	6.4e-05	0	0
KIF2B	84643	broad.mit.edu	37	17	51900848	51900848	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:51900848G>A	uc002iua.2	+	0	610	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	152					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGCCTCTGGGAAATCCAGAA	0.562000														39			24		0	0	0.000586117	0	0
C2orf40	84417	broad.mit.edu	37	2	106694260	106694260	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:106694260C>T	uc010fjf.3	+	3	433	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	109						extracellular region|transport vesicle		p.R109R(2)		lung(7)|urinary_tract(1)	8						TAACAGAGATCGAAATGGACA	0.453000														29			22		0	0	0.000878237	0	0
RGPD4	285190	broad.mit.edu	37	2	108487716	108487716	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:108487716A>T	uc010ywk.2	+	19	3338	c.3256A>T	c.(3256-3258)Aaa>Taa	p.K1086*	RGPD4_uc002tdu.3_Nonsense_Mutation_p.K273*|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1086	RanBD1 1.				intracellular transport		binding	p.L1085fs*1(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGGGAACTTAAAAATTCTCAA	0.393000														207			69		0	0	0.000781405	0	0
C17orf81	23587	broad.mit.edu	37	17	7156241	7156241	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:7156241G>T	uc002gfg.1	+	3	267	c.160G>T	c.(160-162)Gag>Tag	p.E54*	CTDNEP1_uc002gfd.2_5'Flank|CTDNEP1_uc002gfe.2_5'Flank|C17orf81_uc010cmb.3_Nonsense_Mutation_p.E54*|C17orf81_uc002gfh.1_Nonsense_Mutation_p.E54*|C17orf81_uc002gfi.1_Nonsense_Mutation_p.E54*|C17orf81_uc002gfj.3_Nonsense_Mutation_p.E54*|C17orf81_uc002gfk.1_Nonsense_Mutation_p.E54*	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	Homo sapiens chromosome 17 open reading frame 81 (C17orf81), transcript variant 4, mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.G53W(1)		breast(2)|endometrium(2)|lung(9)|urinary_tract(1)	14						CCTTAGTGGGGAGCAAGTGCA	0.507000														83			6		0.000274275	0.00275091	0.000274275	1	0
TAOK3	51347	broad.mit.edu	37	12	118650786	118650786	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:118650786C>T	uc001twx.3	-	10	1047	c.752G>A	c.(751-753)aGg>aAg	p.R251K	TAOK3_uc001tww.3_Missense_Mutation_p.R81K|TAOK3_uc001twy.4_Missense_Mutation_p.R251K	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	251	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACAAATCTCCTAAAGGAGTC	0.363000														22			10		0	0	0.000673444	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	T	T	rs121913413		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:41266125C>T	uc010hia.1	+	3	278	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CTNNB1_uc003ckq.2_Missense_Mutation_p.T41I|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41I|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41I|CTNNB1_uc011azf.1_Missense_Mutation_p.T34I|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(622)|p.T41I(152)|p.A5_A80del(119)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41N(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41P(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.V22_Y64del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.W25_A80del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGTGCCACTACCACAGCTCCT	0.507000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					25			12		0	0	0.00010058	0	0
EPB49	2039	broad.mit.edu	37	8	21938900	21938900	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:21938900A>T	uc022asw.1	+	14	1182	c.1144A>T	c.(1144-1146)Atg>Ttg	p.M382L	EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_Missense_Mutation_p.M360L|EPB49_uc022asy.1_Missense_Mutation_p.M335L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	382	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GGTATTTGCCATGTCCCCTGA	0.602000														41			29		0	0	0.000491102	0	0
STAG1	10274	broad.mit.edu	37	3	136196211	136196211	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:136196211C>T	uc003era.1	-	9	1238	c.946G>A	c.(946-948)Gga>Aga	p.G316R	STAG1_uc003erb.1_Missense_Mutation_p.G316R|STAG1_uc003erc.1_Missense_Mutation_p.G90R|STAG1_uc010hua.1_Missense_Mutation_p.G179R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	316	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ATCCATACTCCAATTTCTTCA	0.343000														40			21		0	0	0.000229342	0	0
RYR3	6263	broad.mit.edu	37	15	34153323	34153323	+	Silent	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:34153323A>G	uc001zhi.3	+	101	14479	c.14409A>G	c.(14407-14409)acA>acG	p.T4803T	RYR3_uc010bar.3_Silent_p.T4798T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4803					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T4802T(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTTGACACAACCCCTCATG	0.383000														10			13		0	0	0.000219431	0	0
AHNAK	79026	broad.mit.edu	37	11	62284753	62284753	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62284753G>A	uc001ntl.3	-	4	17436	c.17136C>T	c.(17134-17136)atC>atT	p.I5712I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5712					nervous system development	nucleus	protein binding	p.I5712T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATTTTGATCTTGGACT	0.473000														51			32		0	0	0.000692331	0	0
RRP36	88745	broad.mit.edu	37	6	42996894	42996894	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:42996894G>A	uc003otp.1	+	6	716	c.708G>A	c.(706-708)gaG>gaA	p.E236E		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	236					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AGAAATTGGAGAACTTCTTGA	0.478000														51			180		0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883978	228883978	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:228883978C>T	uc002vpq.2	-	6	1639	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G531E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G531E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	531						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCACTGCTCCCTGGGGGAAA	0.512000														27			9		0	0	0.000274275	0	0
MRPL1	65008	broad.mit.edu	37	4	78808385	78808386	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:78808385_78808386GG>AA	uc003hku.2	+	4	696_697	c.498_499GG>AA	c.(496-501)gaggtc>gaAAtc	p.V167I		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	167							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						ATGCATCAGAGGTCAAAATAGC	0.327000														18			7		0	0	6.4e-05	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43968180	43968180	+	Silent	SNP	C	T	T	rs113125573		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:43968180C>T	uc010yny.2	+	20	3302	c.3219C>T	c.(3217-3219)tcC>tcT	p.S1073S	PLEKHH2_uc002rtf.3_Silent_p.S1072S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1073	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGCAGATTCCAGGTGTGCAG	0.488000														52			20		0	0	0.000229342	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897892	130897892	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:130897892G>A	uc010yzw.1	-	3	1786	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	CCDC74B_uc002tqm.1_Nonsense_Mutation_p.Q246*|CCDC74B_uc002tqn.1_Nonsense_Mutation_p.Q180*			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	246										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CCCTGGTGCTGGCTGTTCCCC	0.612000														45			28		0	0	0.000409698	0	0
SBNO2	22904	broad.mit.edu	37	19	1119085	1119085	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:1119085G>A	uc002lrk.4	-	13	1690	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	SBNO2_uc002lrj.4_Silent_p.S427S|SBNO2_uc010dse.3_Silent_p.S477S|SBNO2_uc010dsf.3_Silent_p.S427S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	484					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AGGTGACGCCGGAGAAGCTGA	0.682000														4			3		0	0	0.00024832	0	0
PLVAP	83483	broad.mit.edu	37	19	17476311	17476311	+	Silent	SNP	C	T	T	rs150210307		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:17476311C>T	uc002ngk.1	-	2	1003	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	321						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTCTGTTTCGCCTCCTGAC	0.667000														18			15		0	0	0.000219431	0	0
ERCC1	2067	broad.mit.edu	37	19	45924637	45924637	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:45924637G>A	uc002pbs.2	-	2	266	c.120C>T	c.(118-120)ttC>ttT	p.F40F	ERCC1_uc002pbt.2_Silent_p.F40F|ERCC1_uc002pbu.2_Intron|ERCC1_uc002pbv.3_Silent_p.F40F	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	40					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		GTGTAGATCGGAATAAGGGCT	0.602000								Nucleotide excision repair (NER)						19			18		0	0	0.000566183	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931072	157931072	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:157931072C>T	uc003wno.3	-	6	1167	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	PTPRN2_uc003wnp.3_Missense_Mutation_p.R332Q|PTPRN2_uc003wnq.3_Missense_Mutation_p.R349Q|PTPRN2_uc003wnr.3_Missense_Mutation_p.R311Q|PTPRN2_uc011kwa.2_Missense_Mutation_p.R372Q	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	349						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGGCTGCCTCGAGCTACTCC	0.672000														33			11		0	0	0.000673444	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121960	62121960	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:62121960C>T	uc002yfe.1	-	5	1067	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	301						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GGCAGAGCTTCGCTCAGAGCC	0.622000														28			22		0	0	0.000375601	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356500	16356500	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:16356500C>T	uc001axu.3	+	13	1418	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.V403V|CLCNKA_uc001axv.3_Silent_p.V446V|CLCNKA_uc010obx.1_Silent_p.V93V|CLCNKA_uc010oby.1_Silent_p.V182V|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	446					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTCTTGCCGTCGCCTTCCCTG	0.672000														13			16		0	0	0.000229342	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:69095234C>T	uc003hdw.4	-	8	823	c.687_splice	c.e8-1	p.K229_splice		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000														19			7		0	0	8.12818e-05	0	0
MPP7	143098	broad.mit.edu	37	10	28420578	28420578	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:28420578C>T	uc001iua.1	-	7	762	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.D120N|MPP7_uc009xla.2_Missense_Mutation_p.D120N|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	120	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AACACTGGGTCGTAATTCTTC	0.358000														24			33		0	0	0.000953801	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22866942	22866942	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:22866942T>A	uc001yuq.2	+	17	2589	c.2459T>A	c.(2458-2460)aTt>aAt	p.I820N	TUBGCP5_uc001yur.4_Missense_Mutation_p.I820N	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	820					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)		TGTCAAAAAATTTATAATCAA	0.303000														82			10		0	0	0.000673444	0	0
PCDH15	65217	broad.mit.edu	37	10	55591154	55591154	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:55591154C>T	uc010qhy.1	-	30	4533	c.4138G>A	c.(4138-4140)Ggg>Agg	p.G1380R	PCDH15_uc010qhq.2_Missense_Mutation_p.G1380R|PCDH15_uc010qhr.2_Missense_Mutation_p.G1375R|PCDH15_uc021pqv.1_Missense_Mutation_p.G1375R|PCDH15_uc021pqw.1_Missense_Mutation_p.G1387R|PCDH15_uc010qht.2_Missense_Mutation_p.G1382R|PCDH15_uc021pqx.1_Missense_Mutation_p.G1375R|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1375R|PCDH15_uc021pqz.1_Missense_Mutation_p.G1353R|PCDH15_uc010qhv.1_Missense_Mutation_p.G1375R|PCDH15_uc010qhw.1_Missense_Mutation_p.G1338R|PCDH15_uc010qhx.1_Missense_Mutation_p.G1304R|PCDH15_uc010qhz.1_Missense_Mutation_p.G1375R|PCDH15_uc010qia.1_Missense_Mutation_p.G1353R|PCDH15_uc001jju.1_Missense_Mutation_p.G1375R|PCDH15_uc010qib.1_Missense_Mutation_p.G1353R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1375					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1379V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACAAGGCCCCTTCTGTGTAT	0.493000										HNSCC(58;0.16)				42			8		0	0	0.000442599	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565361	69565362	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:69565361_69565362GG>TT	uc001jnb.3	-	3	649_650	c.481_482CC>AA	c.(481-483)ccg>AAg	p.P161K	U6_uc021prq.1_5'Flank	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	161					protein folding		heat shock protein binding|unfolded protein binding	p.P161Q(4)|p.P161P(1)		breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TGAATTTTGCGGGGAGACTGAC	0.396000														270			7		0	0	6.4e-05	0	0
CYP39A1	51302	broad.mit.edu	37	6	46620231	46620232	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:46620231_46620232GG>TT	uc003oyf.1	-	0	292_293	c.88_89CC>AA	c.(88-90)ccg>AAg	p.P30K	CYP39A1_uc011dwa.1_Missense_Mutation_p.P30K|CYP39A1_uc010jzd.1_5'UTR|SLC25A27_uc011dwb.2_5'Flank|SLC25A27_uc003oyh.3_5'Flank|SLC25A27_uc003oyg.3_5'Flank|SLC25A27_uc011dwc.2_5'Flank	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	30					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.P30Q(2)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CTTGATGCACGGGGGTCTACGC	0.450000														397			7		0	0	6.4e-05	0	0
KIF13A	63971	broad.mit.edu	37	6	17764934	17764934	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:17764934G>T	uc003ncg.4	-	38	4985	c.4825C>A	c.(4825-4827)Ctg>Atg	p.L1609M	KIF13A_uc003ncf.3_Missense_Mutation_p.L1561M|KIF13A_uc003nch.4_Missense_Mutation_p.L1574M|KIF13A_uc003nci.4_Missense_Mutation_p.L1561M|KIF13A_uc003nce.2_Missense_Mutation_p.L160M	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1609					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGTCAGACAGGGTGGCATTG	0.547000														23			4		0.000602214	0.00602214	0.000602214	1	0
C7orf58	79974	broad.mit.edu	37	7	120780953	120780953	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:120780953C>T	uc003vjq.4	+	14	2219	c.1772C>T	c.(1771-1773)cCa>cTa	p.P591L	C7orf58_uc003vjs.4_Missense_Mutation_p.P591L|C7orf58_uc003vjt.4_Missense_Mutation_p.P371L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	591						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GACTTTCATCCAAAGATCAAA	0.378000														35			12		0	0	0.000978159	0	0
GPR61	83873	broad.mit.edu	37	1	110085718	110085718	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:110085718C>T	uc021orh.1	+	0	74	c.74C>T	c.(73-75)cCc>cTc	p.P25L	GPR61_uc001dxy.2_Missense_Mutation_p.P25L	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCCCAGGTCCCTCTACTGCC	0.612000														16			14		0	0	0.000308642	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588661	140588661	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140588661C>T	uc003liz.3	+	0	371	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S61S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGTCTTCGCGGGGGGCT	0.507000														69			28		0	0	0.000409698	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995730	57995730	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:57995730G>A	uc010rkd.2	-	0	661	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGATGCTCACGACATAGAGGA	0.627000														25			6		0	0	3.59834e-05	0	0
DENND5A	23258	broad.mit.edu	37	11	9225804	9225804	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:9225804G>A	uc001mhl.3	-	3	609	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	DENND5A_uc010rbw.2_Missense_Mutation_p.H118Y|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	118	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATAAAGGCATGGAATTGGGGC	0.493000														29			11		0	0	0.000978159	0	0
UBR2	23304	broad.mit.edu	37	6	42657386	42657387	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:42657386_42657387GG>TT	uc011dur.2	+	45	5402_5403	c.5104_5105GG>TT	c.(5104-5106)ggg>TTg	p.G1702L	UBR2_uc011dus.2_Missense_Mutation_p.G1347L|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Missense_Mutation_p.G290L|UBR2_uc011duu.2_Missense_Mutation_p.G94L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1702					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.G1702V(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGATGACTATGGGGAGACCGAC	0.515000														452			10		0	0	6.4e-05	0	0
PRKCH	5583	broad.mit.edu	37	14	61789030	61789030	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:61789030G>A	uc001xfn.3	+	0	516	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PRKCH_uc010tsa.2_Intron|BC050301_uc001xfm.3_Intron	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	71	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GTACAACGAGGAGTTTTGCGC	0.632000														13			10		0	0	0.00010058	0	0
ITGAD	3681	broad.mit.edu	37	16	31425822	31425822	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:31425822C>T	uc010cap.1	+	16	2099	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	ITGAD_uc002ebv.1_Silent_p.L683L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	683					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						CCCAGGTCGTCTGACTTCTCG	0.473000														142			69		0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237868530	237868530	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:237868530G>A	uc001hyl.1	+	66	9587	c.9467G>A	c.(9466-9468)gGa>gAa	p.G3156E	RYR2_uc010pxz.1_Missense_Mutation_p.G111E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3156					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)			TCTGCATTAGGAGAATGTCTA	0.348000														23			4		0	0	0.000602214	0	0
OR1I1	126370	broad.mit.edu	37	19	15198755	15198755	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:15198755G>A	uc010xoe.2	+	0	879	c.879G>A	c.(877-879)cgG>cgA	p.R293R		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						ACAGCATACGGAACAAGGATA	0.542000														35			14		0	0	0.000422831	0	0
NAA25	80018	broad.mit.edu	37	12	112481497	112481497	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:112481497G>A	uc001ttm.3	-	17	2240	c.2182C>T	c.(2182-2184)Cgt>Tgt	p.R728C	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.R700C|NAA25_uc009zwa.2_Missense_Mutation_p.R728C	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	728						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGGAGCAAACGAAGAATATCA	0.468000														61			14		0	0	0.000219431	0	0
HGF	3082	broad.mit.edu	37	7	81381436	81381436	+	Splice_Site	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:81381436C>T	uc003uhl.3	-	5	790	c.625_splice	c.e5+1	p.V209_splice	HGF_uc003uhm.3_Splice_Site_p.V204_splice|HGF_uc003uhn.1_Splice_Site_p.V209_splice|HGF_uc003uho.1_Splice_Site_p.V204_splice|HGF_uc003uhp.3_Missense_Mutation_p.G209S	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	209					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTTTATTTACCTTCTGAACAC	0.443000														36			6		0	0	0.000157383	0	0
C18orf34	374864	broad.mit.edu	37	18	30950152	30950152	+	Splice_Site	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:30950152C>T	uc010xbr.1	-	5	351	c.209_splice	c.e5-1	p.G70_splice	C18orf34_uc002kxn.2_Splice_Site_p.G70_splice|C18orf34_uc010dmf.1_Splice_Site_p.G70_splice|C18orf34_uc002kxo.2_Splice_Site_p.G70_splice|C18orf34_uc002kxp.3_Splice_Site_p.G70_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	70										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CTTTATTCACCCCTAAAGAGA	0.343000														9			7		0	0	8.12818e-05	0	0
FAM110C	642273	broad.mit.edu	37	2	41615	41615	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:41615G>A	uc010yim.2	-	1	1162	c.959C>T	c.(958-960)tCc>tTc	p.S320F		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	320						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TCATCATCGGGAAGGTTTGCT	0.408000														32			19		0	0	0.000132079	0	0
DNAH8	1769	broad.mit.edu	37	6	38834641	38834641	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:38834641C>T	uc021yzh.1	+	46	6791	c.6682C>T	c.(6682-6684)Ctt>Ttt	p.L2228F	DNAH8_uc003ooe.2_Missense_Mutation_p.L2011F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAGAGCAACTTACTAAACA	0.323000														7			37		0	0	0.000814825	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226868	24226868	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr22:24226868C>T	uc011ajc.1	+	10	1833	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	SLC2A11_uc002zym.4_Silent_p.F448F|SLC2A11_uc002zyn.4_Silent_p.F441F|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_Silent_p.F444F			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	0						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						ATGTCCCTTTCCTTGGTGTCT	0.512000														60			35		0	0	0.000692331	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310803	75310803	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:75310803C>T	uc002azn.2	+	5	651	c.464C>T	c.(463-465)tCg>tTg	p.S155L	SCAMP5_uc002azl.2_Missense_Mutation_p.S147L|SCAMP5_uc002azm.2_Missense_Mutation_p.S147L|SCAMP5_uc002azk.2_Missense_Mutation_p.S147L|SCAMP5_uc010uly.2_Missense_Mutation_p.S76L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	147					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AACATTGGCTCGGCGGTGGTG	0.582000														219			51		0	0	0.000781405	0	0
MUC4	4585	broad.mit.edu	37	3	195481174	195481174	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:195481174C>T	uc021xjp.1	-	18	15394	c.15238G>A	c.(15238-15240)Gag>Aag	p.E5080K	MUC4_uc010hzq.3_5'Flank|MUC4_uc003fuz.3_Missense_Mutation_p.E678K|MUC4_uc003fva.3_Missense_Mutation_p.E560K|MUC4_uc003fvb.3_Missense_Mutation_p.E596K|MUC4_uc003fvc.3_Intron|MUC4_uc003fvd.3_Intron|MUC4_uc003fve.3_Missense_Mutation_p.E596K|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.E589K|MUC4_uc021xjn.1_Missense_Mutation_p.E769K|MUC4_uc021xjo.1_Missense_Mutation_p.E560K|MUC4_uc021xjg.1_Missense_Mutation_p.E560K|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Missense_Mutation_p.E644K|MUC4_uc021xjj.1_Missense_Mutation_p.E644K|MUC4_uc021xjk.1_Missense_Mutation_p.E821K|MUC4_uc021xjl.1_Missense_Mutation_p.E560K|MUC4_uc003fvo.3_Missense_Mutation_p.E844K|MUC4_uc003fvp.3_Missense_Mutation_p.E793K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1837					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)		AAGCACGGCTCCTCACAGGCA	0.692000														29			11		0	0	0.000978159	0	0
FLG2	388698	broad.mit.edu	37	1	152327138	152327138	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:152327138C>T	uc001ezw.4	-	2	3197	c.3124G>A	c.(3124-3126)Gga>Aga	p.G1042R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1042	Ser-rich.						calcium ion binding|structural molecule activity	p.G1042*(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCTGATCCATGTTGTCCA	0.488000														126			61		0	0	0.000781405	0	0
MEGF11	84465	broad.mit.edu	37	15	66263027	66263027	+	Splice_Site	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:66263027C>T	uc002apm.2	-	8	904	c.763_splice	c.e8-1	p.G255_splice	MEGF11_uc002apl.2_Splice_Site_p.G180_splice|MEGF11_uc002apn.1_Splice_Site_p.G255_splice	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	255	EGF-like 4.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CACACTGCTCCCTAAAAGAAA	0.582000														7			14		0	0	0.000566183	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800682	185800682	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:185800682C>T	uc002uph.3	+	3	1153	c.559C>T	c.(559-561)Cca>Tca	p.P187S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	187						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCTGAAGATCCAGAAAGTGC	0.363000														22			6		0	0	8.12818e-05	0	0
MIER2	54531	broad.mit.edu	37	19	326549	326549	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:326549G>A	uc002lok.1	-	5	552	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S181S(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CCTCGGTGTCGGAGGAGGCAG	0.592000														43			24		0	0	0.000878237	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719562	162719562	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:162719562G>A	uc002ubx.4	+	5	940	c.756G>A	c.(754-756)atG>atA	p.M252I	SLC4A10_uc010fpa.1_Missense_Mutation_p.M264I|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.M263I|SLC4A10_uc002uby.4_Missense_Mutation_p.M252I	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	252					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAAATTCCATGGACAAAAATG	0.338000														18			4		0	0	0.00024832	0	0
RTEL1	51750	broad.mit.edu	37	20	62326551	62326551	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:62326551T>C	uc021wge.1	+	31	3646	c.3476T>C	c.(3475-3477)cTt>cCt	p.L1159P	RTEL1_uc002yfu.2_Missense_Mutation_p.L1159P|RTEL1_uc011abd.2_Missense_Mutation_p.L1183P|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.L936P|RTEL1_uc002yfx.1_Missense_Mutation_p.L404P|TNFRSF6B_uc002yfy.3_5'UTR|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	1159					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCTCCTGTGCTTACCCACAGG	0.697000														14			5		0	0	0.000602214	0	0
FMNL2	114793	broad.mit.edu	37	2	153399257	153399257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:153399257G>A	uc002tye.3	+	2	573	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	69	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCAGGAACGATTCCAGGTG	0.418000														34			10		0	0	0.000978159	0	0
C3orf39	84892	broad.mit.edu	37	3	43122216	43122216	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:43122216G>A	uc003cmr.1	-	1	1051	c.708C>T	c.(706-708)ctC>ctT	p.L236L	C3orf39_uc003cmq.1_Silent_p.L236L|C3orf39_uc021wwn.1_Silent_p.L236L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	236						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		TGATCTTGGAGAGGCCCACAA	0.602000														33			22		0	0	0.000375601	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480554	140480554	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140480554G>A	uc003lio.3	+	0	321	c.321G>A	c.(319-321)caG>caA	p.Q107Q	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	107	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACATTTTCAGATATTACTGC	0.418000														40			32		0	0	0.000279167	0	0
COL4A5	1287	broad.mit.edu	37	X	107783035	107783035	+	Splice_Site	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:107783035G>A	uc022ccg.1	+	2	343	c.141_splice	c.e2+1	p.K47_splice	COL4A5_uc004enz.1_Splice_Site_p.K47_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	47	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGGAAAAGGTGAGGTCTT	0.333000									Alport syndrome with Diffuse Leiomyomatosis					27			23		0	0	0.000878237	0	0
SLC7A14	57709	broad.mit.edu	37	3	170218993	170218993	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:170218993G>A	uc003fgz.2	-	2	762	c.446C>T	c.(445-447)gCc>gTc	p.A149V	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	149						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACTGGCTCCGGCCGCAGTGCC	0.557000														13			12		0	0	0.000978159	0	0
CSDA	8531	broad.mit.edu	37	12	10865878	10865878	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:10865878G>A	uc001qyt.3	-	4	748	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	CSDA_uc001qyu.3_Missense_Mutation_p.R169C	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	169					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					GCAGCGTAACGACTCCCTTCC	0.502000														64			17		0	0	0.000422831	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	A	A	rs121913500		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:209113112C>A	uc002vcs.3	-	3	641	c.395G>T	c.(394-396)cGt>cTt	p.R132L	IDH1_uc002vct.3_Missense_Mutation_p.R132L|IDH1_uc002vcu.3_Missense_Mutation_p.R132L	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									22			16		9.16793e-09	9.33412e-08	0.000566183	1	0
CADM2	253559	broad.mit.edu	37	3	86010738	86010738	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:86010738G>A	uc003dql.3	+	6	890	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	CADM2_uc003dqj.3_Missense_Mutation_p.R295Q|CADM2_uc003dqk.3_Missense_Mutation_p.R304Q|CADM2_uc003dqm.2_Missense_Mutation_p.R187Q|CADM2_uc021xay.1_Missense_Mutation_p.R187Q|CADM2_uc021xaz.1_Missense_Mutation_p.R187Q|CADM2_uc021xba.1_Missense_Mutation_p.R187Q	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	295	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.R297*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGTACATATCGATGTGAAGCC	0.413000														52			19		0	0	0.000958276	0	0
PKP3	11187	broad.mit.edu	37	11	397006	397006	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:397006G>A	uc021qbk.1	+	3	579	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	PKP3_uc001lpc.3_Missense_Mutation_p.G169R	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	169					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGCGCGGTGGGGTTGGGAG	0.721000														17			4		0	0	0.000602214	0	0
BDP1	55814	broad.mit.edu	37	5	70805913	70805913	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:70805913C>T	uc003kbp.1	+	16	3257	c.2994C>T	c.(2992-2994)ggC>ggT	p.G998G	BDP1_uc003kbn.1_Silent_p.G998G|BDP1_uc003kbo.3_Silent_p.G998G	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	998	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)		GGGAAAATGGCCCAGAGGAGG	0.463000														32			17		0	0	0.000958276	0	0
PLXND1	23129	broad.mit.edu	37	3	129302425	129302425	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:129302425G>A	uc003emx.2	-	7	2326	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	742					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTTTGGTGAGGCCTCGCACC	0.542000														17			4		0	0	0.000602214	0	0
ZMYM3	9203	broad.mit.edu	37	X	70469396	70469396	+	Missense_Mutation	SNP	G	A	A	rs138633030		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:70469396G>A	uc004dzh.2	-	6	1564	c.1385C>T	c.(1384-1386)aCc>aTc	p.T462I	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.T462I|ZMYM3_uc004dzj.2_Missense_Mutation_p.T462I|ZMYM3_uc011mpu.2_Missense_Mutation_p.T193I|ZMYM3_uc004dzl.4_Missense_Mutation_p.T462I	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	462					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGACTCCCGGTCTTGGTGTA	0.577000														4			4		0	0	0.00024832	0	0
CR2	1380	broad.mit.edu	37	1	207640158	207640158	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:207640158T>G	uc001hfw.3	+	1	465	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	CR2_uc001hfv.3_Missense_Mutation_p.F116V|CR2_uc009xch.3_Missense_Mutation_p.F116V	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	116	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCTGTGACATTTGCCTGTAA	0.428000														28			8		0	0	0.000274275	0	0
SH2B1	25970	broad.mit.edu	37	16	28878039	28878039	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:28878039C>T	uc002dri.3	+	3	1063	c.624C>T	c.(622-624)acC>acT	p.T208T	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Silent_p.T208T|SH2B1_uc002drk.3_Silent_p.T208T|SH2B1_uc002drl.3_Silent_p.T208T|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Silent_p.T208T|SH2B1_uc002drm.3_Silent_p.T208T	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	208	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGCTGGGACCGTTGGTAGGG	0.637000														16			9		0	0	0.000274275	0	0
SCN10A	6336	broad.mit.edu	37	3	38748782	38748782	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:38748782G>A	uc003ciq.3	-	24	4374	c.4374C>T	c.(4372-4374)atC>atT	p.I1458I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1458					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGGCCGTGGGATGGGCTTCT	0.557000														70			30		0	0	0.000814825	0	0
RPL36AL	6166	broad.mit.edu	37	14	50085802	50085802	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:50085802G>A	uc021rsq.1	-	0	21	c.21C>T	c.(19-21)acC>acT	p.T7T	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_Silent_p.T7T|MGAT2_uc001wwr.3_5'Flank	NM_001001	NP_000992	Q969Q0	RL36L_HUMAN	Homo sapiens ribosomal protein L36a-like (RPL36AL), mRNA.	7					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					AGGTTCTTCGGGTTTTAGGTA	0.413000														53			10		0	0	0.000673444	0	0
SV2B	9899	broad.mit.edu	37	15	91810814	91810815	+	Missense_Mutation	DNP	GG	TT	TT	rs146252262	byFrequency	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:91810814_91810815GG>TT	uc002bqv.3	+	8	2040_2041	c.1149_1150GG>TT	c.(1147-1152)atgggg>atTTgg	p.383_384MG>IW	SV2B_uc002bqt.3_Missense_Mutation_p.383_384MG>IW|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.232_233MG>IW	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	383					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACTGTGTGATGGGGCCCTACAG	0.450000														795			11		0	0	6.4e-05	0	0
UNC45A	55898	broad.mit.edu	37	15	91486150	91486151	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:91486150_91486151CG>AT	uc002bqg.3	+	7	1205_1206	c.865_866CG>AT	c.(865-867)cgg>ATg	p.R289M	UNC45A_uc002bqd.3_Missense_Mutation_p.R274M	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	289					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	p.R289L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGATCCTGCCCGGGAGCTGAAG	0.559000														458			11		0	0	6.4e-05	0	0
KLHL13	90293	broad.mit.edu	37	X	117043528	117043528	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:117043528C>T	uc011mtp.2	-	5	1244	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	KLHL13_uc004eqk.3_Missense_Mutation_p.E317K|KLHL13_uc004eql.3_Missense_Mutation_p.E368K|KLHL13_uc011mtn.2_Missense_Mutation_p.E208K|KLHL13_uc011mto.2_Missense_Mutation_p.E362K|KLHL13_uc011mtq.2_Missense_Mutation_p.E352K|KLHL13_uc004eqm.3_Missense_Mutation_p.E326K|KLHL13_uc022cde.1_Missense_Mutation_p.E352K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	368					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GATTTCCACTCATGGGCCTTT	0.493000														19			19		0	0	0.000229342	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143446	61143447	+	RNA	DNP	CC	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61143446_61143447CC>TT	uc021wfy.1	-	0		c.436_437GG>AA			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		GGGACCCTCACCTTGACTGTGT	0.658000														23			14		0	0	6.4e-05	0	0
LOC100192204	100192204	broad.mit.edu	37	10	15196972	15196972	+	Silent	SNP	T	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:15196972T>G	uc010qca.1	-	0	375	c.348A>C	c.(346-348)acA>acC	p.T116T	NMT2_uc001inz.1_Intron|NMT2_uc001ioa.1_Intron|NMT2_uc010qbz.1_Intron					Homo sapiens peptidylprolyl isomerase A (cyclophilin A) pseudogene (LOC100192204), non-coding RNA.																		GGGAATCGTTTGTGTTGGGTC	0.493000														26			6		0	0	8.12818e-05	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438517	204438517	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:204438517G>A	uc001haw.3	-	2	893	c.414C>T	c.(412-414)gtC>gtT	p.V138V	PIK3C2B_uc010pqv.2_Silent_p.V138V|PIK3C2B_uc001hax.1_Silent_p.V138V|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	138	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGACGAAGAGACTCCCCCAT	0.577000														18			10		0	0	0.000442599	0	0
CEP250	11190	broad.mit.edu	37	20	34091513	34091513	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:34091513C>T	uc021wco.1	+	29	5963	c.5316C>T	c.(5314-5316)ctC>ctT	p.L1772L	CEP250_uc010zve.2_Silent_p.L1140L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1772	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGCCTCCTCCTGTCCCAGC	0.572000														36			19		0	0	0.00074312	0	0
ZNF560	147741	broad.mit.edu	37	19	9578233	9578233	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:9578233C>T	uc002mlp.1	-	9	1600	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	ZNF560_uc010dwr.1_Missense_Mutation_p.E358K	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCCCATATTCCTTATGCTCA	0.403000														193			45		0	0	0.000781405	0	0
PEX5L	51555	broad.mit.edu	37	3	179605528	179605529	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:179605528_179605529GG>AA	uc003fki.1	-	3	372_373	c.242_243CC>TT	c.(241-243)tcc>tTT	p.S81F	PEX5L_uc011bqd.1_Missense_Mutation_p.S38F|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.S38F|PEX5L_uc003fkj.1_Missense_Mutation_p.S46F|PEX5L_uc010hxd.1_Missense_Mutation_p.S79F|PEX5L_uc011bqg.1_Missense_Mutation_p.S57F|PEX5L_uc011bqh.1_Missense_Mutation_p.S22F	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	81					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTCATCGATGGAGGGACTCAG	0.441000														117			46		0	0	6.4e-05	0	0
INO80	54617	broad.mit.edu	37	15	41371979	41371979	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:41371979C>A	uc001zni.3	-	8	1264	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	351	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding	p.E351*(3)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTACTTTCTCATATTTCTTC	0.532000														454			11		0.000673444	0.00671452	0.000673444	1	0
FAT3	120114	broad.mit.edu	37	11	92087287	92087287	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:92087287C>T	uc001pdj.4	+	0	2026	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	670	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T669T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAACATTTCAGTCCTACAT	0.403000										TCGA Ovarian(4;0.039)				264			133		0	0	0.000781405	0	0
WDR49	151790	broad.mit.edu	37	3	167245717	167245717	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:167245717G>A	uc003fev.1	-	10	1743	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	WDR49_uc003feu.1_Missense_Mutation_p.S305F|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	480										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATCTCTAAGGAACTTATTCG	0.448000														34			19		0	0	0.00074312	0	0
IGSF10	285313	broad.mit.edu	37	3	151163919	151163919	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:151163919G>A	uc011bod.2	-	3	3850	c.3850C>T	c.(3850-3852)Cca>Tca	p.P1284S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1284					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTTTGTTGGAAGACTTCCA	0.428000														54			31		0	0	0.000409698	0	0
GRINA	2907	broad.mit.edu	37	8	145065397	145065397	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:145065397C>T	uc003zan.1	+	1	172	c.6C>T	c.(4-6)tcC>tcT	p.S2S	GRINA_uc003zao.1_Silent_p.S2S|GRINA_uc003zap.1_Silent_p.S2S	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	2						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCATGTCCCATGAAAAGA	0.617000														34			15		0	0	0.00074312	0	0
XPO7	23039	broad.mit.edu	37	8	21861515	21861515	+	Silent	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:21861515A>G	uc003xaa.4	+	26	3246	c.3144A>G	c.(3142-3144)cgA>cgG	p.R1048R		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	1048					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCATCGAGCGAAATCTTCTTA	0.438000														18			7		0	0	0.000157383	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342622	94342622	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:94342622T>G	uc001dqf.3	-	1	927	c.869A>C	c.(868-870)aAa>aCa	p.K290T	DNTTIP2_uc010otm.2_Non-coding_Transcript|DNTTIP2_uc009wdo.2_Missense_Mutation_p.K85T	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTTGTTTCTTTAAGAGATTC	0.333000														28			11		0	0	0.000673444	0	0
CUL9	23113	broad.mit.edu	37	6	43181465	43181465	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:43181465C>T	uc003ouk.3	+	28	5578	c.5503C>T	c.(5503-5505)Cat>Tat	p.H1835Y	CUL9_uc003oul.3_Intron|CUL9_uc010jyk.3_Missense_Mutation_p.H987Y|CUL9_uc003oun.3_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1835				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGCGGCTTCATGAGCCTGG	0.612000														90			13		0	0	0.000308642	0	0
AKAP13	11214	broad.mit.edu	37	15	86283477	86283477	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:86283477C>T	uc002blv.1	+	33	7752	c.7582C>T	c.(7582-7584)Ctc>Ttc	p.L2528F	AKAP13_uc002blu.1_Missense_Mutation_p.L2532F|AKAP13_uc002blw.1_Missense_Mutation_p.L993F|AKAP13_uc002blx.1_Missense_Mutation_p.L773F	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2528	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGTTGTTCATCTCTACGAGCT	0.473000														30			72		0	0	0.000781405	0	0
C7orf58	79974	broad.mit.edu	37	7	120935554	120935554	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:120935554C>T	uc003vjq.4	+	22	3376	c.2929C>T	c.(2929-2931)Cat>Tat	p.H977Y		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	977						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATCAAGAAATCATATCATGGG	0.328000														29			11		0	0	0.000673444	0	0
ATP11B	23200	broad.mit.edu	37	3	182631701	182631702	+	Missense_Mutation	DNP	CG	AT	AT	rs143938318		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:182631701_182631702CG>AT	uc003flb.3	+	28	3628_3629	c.3371_3372CG>AT	c.(3370-3372)ccg>cAT	p.P1124H	ATP11B_uc003flc.3_Missense_Mutation_p.P708H|ATP11B_uc010hxg.3_Non-coding_Transcript|ATP11B_uc010hxh.1_3'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	1124					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1124Q(2)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGCTGTTTCCCGGAAGGAGAAG	0.450000														169			6		0	0	6.4e-05	0	0
CACNA1A	773	broad.mit.edu	37	19	13397745	13397745	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:13397745G>A	uc002mwy.3	-	19	3361	c.3125C>T	c.(3124-3126)cCc>cTc	p.P1042L	CACNA1A_uc010dzc.2_Missense_Mutation_p.P568L|CACNA1A_uc010xnd.2_Missense_Mutation_p.P1045L|CACNA1A_uc021ups.1_Missense_Mutation_p.P1042L|CACNA1A_uc010xne.2_Missense_Mutation_p.P1045L|CACNA1A_uc010dze.2_Missense_Mutation_p.P1042L|CACNA1A_uc021upt.1_Missense_Mutation_p.P1043L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1043					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.P1043H(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGACAGGTTGGGGCCCGACAC	0.552000														20			14		0	0	0.000422831	0	0
MORC1	27136	broad.mit.edu	37	3	108677833	108677833	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:108677833A>C	uc003dxl.3	-	27	3021	c.2934T>G	c.(2932-2934)aaT>aaG	p.N978K	MORC1_uc011bhn.2_Missense_Mutation_p.N957K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	978					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						aagtcttttcatttttttcta	0.259000														13			9		0	0	0.000274275	0	0
WDR49	151790	broad.mit.edu	37	3	167246922	167246922	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:167246922G>A	uc003fev.1	-	9	1572	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	WDR49_uc003feu.1_Missense_Mutation_p.S248L|WDR49_uc011bpd.1_Missense_Mutation_p.S487L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	423								p.S423W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATAATAATCGATCCAACTCC	0.363000														26			23		0	0	0.000586117	0	0
NTSR1	4923	broad.mit.edu	37	20	61386080	61386080	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61386080C>T	uc002ydf.3	+	1	1129	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	253						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.S253S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GTGGTCATCTCGGTCCTGAAC	0.607000														73			23		0	0	0.000375601	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549904	71549904	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:71549904G>A	uc004agu.3	+	12	1605	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	PIP5K1B_uc011lrq.2_Missense_Mutation_p.D434N|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	434						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GGAATGGAAGGATGAGAAGCG	0.428000														19			5		0	0	0.000602214	0	0
CCDC63	160762	broad.mit.edu	37	12	111311717	111311717	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:111311717C>T	uc001trv.1	+	4	636	c.441C>T	c.(439-441)ccC>ccT	p.P147P	CCDC63_uc009zvt.1_Silent_p.P62P|CCDC63_uc010sye.1_Silent_p.P107P|CCDC63_uc001trw.1_Silent_p.P62P	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	147										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCAATAACCCCCGGAAACTGC	0.418000														76			48		0	0	0.000781405	0	0
GPR98	84059	broad.mit.edu	37	5	90074263	90074263	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:90074263C>T	uc003kju.3	+	62	12782	c.12686C>T	c.(12685-12687)cCc>cTc	p.P4229L	GPR98_uc003kjt.3_Missense_Mutation_p.P1935L|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4229	Calx-beta 28.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGACATTCCCGAGGAAAAA	0.438000														10			4		0	0	0.000602214	0	0
BAZ2A	11176	broad.mit.edu	37	12	57000447	57000448	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:57000447_57000448CC>AA	uc001slq.1	-	10	2362_2363	c.2168_2169GG>TT	c.(2167-2169)cgg>cTT	p.R723L	BAZ2A_uc001slp.1_Missense_Mutation_p.R721L|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.R691L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	723	Lys-rich.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GACACTCTCCCCGTTGAACCTT	0.386000														254			9		0	0	6.4e-05	0	0
C15orf42	90381	broad.mit.edu	37	15	90138635	90138635	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:90138635C>T	uc002boe.3	+	6	1693	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C	C15orf42_uc021sug.1_Missense_Mutation_p.R564C	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	565					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGGGTCCCTCGTACTCCAGT	0.438000														80			10		0	0	0.00010058	0	0
DAK	26007	broad.mit.edu	37	11	61113373	61113373	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:61113373G>A	uc001nre.3	+	16	1787	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	DAK_uc009ynm.1_Silent_p.K440K	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	510	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGCCTGGAAGAGCCCAGGAG	0.617000														27			17		0	0	0.000958276	0	0
LEPR	3953	broad.mit.edu	37	1	66064414	66064414	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:66064414G>A	uc001dci.3	+	7	1310	c.921G>A	c.(919-921)caG>caA	p.Q307Q	LEPR_uc001dcg.3_Silent_p.Q307Q|LEPR_uc001dch.3_Silent_p.Q307Q|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.Q307Q|LEPR_uc001dcj.3_Silent_p.Q307Q|LEPR_uc001dck.3_Silent_p.Q307Q	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	307	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGAGGTTCAGGTGAGGGGCA	0.443000														34			15		0	0	0.000308642	0	0
HERC2	8924	broad.mit.edu	37	15	28386959	28386959	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:28386959T>G	uc001zbj.3	-	76	11840	c.11734A>C	c.(11734-11736)Agc>Cgc	p.S3912R		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3912					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGTTTTCGCTGTCTGCCATT	0.328000														248			45		0	0	0.000781405	0	0
LIPA	3988	broad.mit.edu	37	10	90986655	90986655	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:90986655T>A	uc001kgc.4	-	3	831	c.541A>T	c.(541-543)Ata>Tta	p.I181L	LIPA_uc001kgb.4_Missense_Mutation_p.I123L|LIPA_uc010qnf.2_5'Flank|LIPA_uc001kga.4_Missense_Mutation_p.I179L|LIPA_uc009xtq.3_Missense_Mutation_p.I179L	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	179					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TACATACCTATAGTGGTGCCT	0.313000														22			18		0	0	0.000958276	0	0
ITIH1	3697	broad.mit.edu	37	3	52812490	52812491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:52812490_52812491CC>TT	uc003dfs.3	+	2	303_304	c.273_274CC>TT	c.(271-276)atcccc>atTTcc	p.P92S	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	92	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCTGGAAATCCCCAAGACAGC	0.550000														36			16		0	0	6.4e-05	0	0
FAM219B	57184	broad.mit.edu	37	15	75197048	75197049	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:75197048_75197049CC>AA	uc002azh.4	-	3	706_707	c.385_386GG>TT	c.(385-387)ggg>TTg	p.G129L	FAM219B_uc010bkh.3_Missense_Mutation_p.G43L|FAM219B_uc002azf.3_Missense_Mutation_p.G129L|FAM219B_uc002azg.2_Missense_Mutation_p.G129L	NM_020447	NP_065180	Q5XKK7	CO017_HUMAN	Homo sapiens chromosome 15 open reading frame 17 (C15orf17), mRNA.	129							cytochrome-c oxidase activity	p.G129R(1)									TCCCAGCTCCCCATCACTAGGA	0.545000														199			7		0	0	6.4e-05	0	0
USP32	84669	broad.mit.edu	37	17	58329766	58329766	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:58329766G>A	uc002iyo.1	-	10	1398	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	USP32_uc002iyn.1_Missense_Mutation_p.P41L|USP32_uc010wov.1_Missense_Mutation_p.P371L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	371	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTCTTCTTCCGGAGTAGCTGG	0.323000														18			13		0	0	0.000308642	0	0
ABCA8	10351	broad.mit.edu	37	17	66917522	66917522	+	Splice_Site	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:66917522C>T	uc002jhq.3	-	13	1952	c.1612_splice	c.e13+1	p.G538_splice	ABCA8_uc002jhp.3_Splice_Site_p.G538_splice|ABCA8_uc010wqq.2_Splice_Site_p.G538_splice|ABCA8_uc010wqr.2_Splice_Site_p.G477_splice|ABCA8_uc002jhr.3_Splice_Site_p.G538_splice	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	538	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTAGTTTGTACCTTTGGTGGG	0.378000														28			15		0	0	0.000219431	0	0
AGBL1	123624	broad.mit.edu	37	15	87089299	87089299	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:87089299G>A	uc002blz.1	+	18	2694	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	872					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						TAGCATCAAGGAAACCTTGTG	0.468000														62			11		0	0	0.00010058	0	0
MGAT4A	11320	broad.mit.edu	37	2	99251692	99251692	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:99251692G>A	uc002sze.3	-	13	1775	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	MGAT4A_uc010yvm.2_Silent_p.F359F|MGAT4A_uc010fil.3_Silent_p.F241F	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	487					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TACCTATTCTGAAATAGCCAT	0.289000														19			7		0	0	8.12818e-05	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518179	85518179	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:85518179C>T	uc001tac.3	+	16	4000	c.3889C>T	c.(3889-3891)Cag>Tag	p.Q1297*	LRRIQ1_uc021rbo.1_Nonsense_Mutation_p.Q1175*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1297										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATTAGTATGTCAGAAGAGAGA	0.408000														115			51		0	0	0.000781405	0	0
IPO5	3843	broad.mit.edu	37	13	98658579	98658579	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr13:98658579G>A	uc001vne.3	+	16	1927	c.1747G>A	c.(1747-1749)Ggt>Agt	p.G583S	IPO5_uc001vnf.1_Missense_Mutation_p.G565S|IPO5_uc010tik.1_Missense_Mutation_p.G440S|IPO5_uc010til.1_Missense_Mutation_p.G505S|IPO5_uc001vng.1_Missense_Mutation_p.G186S	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	565					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAGCCTCATTGGTCTGGCTGT	0.353000														7			5		0	0	0.000602214	0	0
PTPN6	5777	broad.mit.edu	37	12	7063977	7063977	+	Silent	SNP	T	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:7063977T>C	uc001qsb.2	+	3	578	c.336T>C	c.(334-336)caT>caC	p.H112H	PTPN6_uc001qsa.1_Silent_p.H114H|PTPN6_uc010sfr.1_Silent_p.H73H|PTPN6_uc009zfl.1_Silent_p.H112H|PTPN6_uc010sfs.1_Silent_p.H100H	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	112	SH2 2.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGTGGTACCATGGCCACATGT	0.622000														19			12		0	0	0.000151284	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874255	24874255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:24874255G>A	uc001isb.2	-	25	5450	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1654	Interaction with CTNNA1.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGTTTTCCTCGGAAAAGCCTC	0.502000														37			4		0	0	0.000157383	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168976	32168976	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:32168976C>T	uc003obb.3	-	21	4196	c.4057G>A	c.(4057-4059)Gga>Aga	p.G1353R	NOTCH4_uc003oba.3_Missense_Mutation_p.G16R|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1353					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCCGAGTTCCTCCTAGCTTT	0.602000														316			22		0	0	0.000295444	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:66727455G>T	uc010bhq.3	+	1	646	c.171G>T	c.(169-171)aaG>aaT	p.K57N	MAP2K1_uc010ujp.2_Missense_Mutation_p.K35N	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	57					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000														81			129		2.27795e-59	2.34761e-58	0.000781405	1	0
ADAM12	8038	broad.mit.edu	37	10	127760116	127760116	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:127760116G>A	uc001ljk.2	-	11	1675	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	ADAM12_uc010qul.1_Missense_Mutation_p.S372F|ADAM12_uc001ljm.3_Missense_Mutation_p.S421F|ADAM12_uc001ljn.3_Missense_Mutation_p.S418F|ADAM12_uc001ljl.4_Missense_Mutation_p.S418F	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	421					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)		GCCCCCGAAAGACTCCCTGAC	0.532000														46			33		0	0	0.000491102	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515317	140515317	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140515317C>G	uc003liq.3	+	0	518	c.301C>G	c.(301-303)Ccc>Gcc	p.P101A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	101	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E100K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGACAGAACCCTGTATATT	0.433000														55			8		0	0	0.000274275	0	0
MOV10L1	54456	broad.mit.edu	37	22	50582642	50582642	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr22:50582642C>T	uc003bjj.3	+	17	2558	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	MOV10L1_uc003bjk.4_Silent_p.V825V|MOV10L1_uc011arp.2_Silent_p.V805V|MOV10L1_uc003bjl.3_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	825					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCACCATGGTCCGGGTGAACG	0.617000														23			12		0	0	0.000978159	0	0
AUP1	550	broad.mit.edu	37	2	74754932	74754932	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:74754932G>A	uc002smh.3	-	6	1186	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_5'UTR|AUP1_uc002smf.3_Missense_Mutation_p.R258W|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Missense_Mutation_p.R315W|AUP1_uc021vjm.1_Missense_Mutation_p.R167W|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	324						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GGAGTGAGCCGTGTCCCTGTC	0.532000														61			38		0	0	0.000270559	0	0
STMN2	11075	broad.mit.edu	37	8	80553691	80553691	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:80553691C>T	uc022awk.1	+	2	576	c.194C>T	c.(193-195)tCa>tTa	p.S65L	STMN2_uc003ybj.3_Missense_Mutation_p.S65L|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	65	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TCTCCTATCTCAGAAGCCCCA	0.458000														31			17		0	0	0.000566183	0	0
USH2A	7399	broad.mit.edu	37	1	215848794	215848794	+	Silent	SNP	G	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:215848794G>T	uc001hku.1	-	62	12846	c.12459C>A	c.(12457-12459)gcC>gcA	p.A4153A		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4153					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A4153V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTCTGGAGGGGCTTCATCTG	0.557000										HNSCC(13;0.011)				27			12		3.07112e-06	3.0987e-05	0.000978159	1	0
LRRC3	81543	broad.mit.edu	37	21	45877008	45877008	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr21:45877008A>G	uc021wjs.1	+	0	481	c.481A>G	c.(481-483)Aag>Gag	p.K161E	LRRC3_uc002zfa.3_Missense_Mutation_p.K161E	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	161						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GTGGGAGCTGAAGCTGGACCC	0.647000														18			7		0	0	8.12818e-05	0	0
PI4KA	5297	broad.mit.edu	37	22	21159290	21159290	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr22:21159290G>A	uc002zsz.4	-	10	1419	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PI4KA_uc010gsq.2_Silent_p.L472L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	386					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCACACCATGAGGTCCACAC	0.577000														29			20		0	0	0.000878237	0	0
TDGF1	6997	broad.mit.edu	37	3	46620758	46620758	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:46620758G>A	uc003cpv.3	+	2	509	c.125G>A	c.(124-126)gGa>gAa	p.G42E	LRRC2_uc003cpu.4_Intron|TDGF1_uc021wxd.1_Missense_Mutation_p.G26E	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	42					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCATCTCGGGGATACCTGGCC	0.517000														31			15		0	0	0.000308642	0	0
CCDC66	285331	broad.mit.edu	37	3	56605266	56605266	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:56605266C>T	uc003dhz.3	+	6	959	c.872C>T	c.(871-873)cCt>cTt	p.P291L	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.P257L|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	291										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TGGAATGATCCTTGGAAAAAA	0.264000														51			26		0	0	0.000878237	0	0
CPAMD8	27151	broad.mit.edu	37	19	17119350	17119350	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:17119350A>C	uc002nfb.3	-	6	697	c.665T>G	c.(664-666)aTg>aGg	p.M222R		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	175						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						CCACTCTATCATCCGAGAGCC	0.527000														17			8		0	0	0.000978159	0	0
TJP3	27134	broad.mit.edu	37	19	3746033	3746033	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:3746033C>T	uc010xhv.2	+	14	2063	c.2063C>T	c.(2062-2064)cCc>cTc	p.P688L	TJP3_uc010xhs.2_Missense_Mutation_p.P655L|TJP3_uc010xht.2_Missense_Mutation_p.P619L|TJP3_uc010xhu.2_Missense_Mutation_p.P664L|TJP3_uc010xhw.2_Missense_Mutation_p.P674L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	669	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGACAGCCCCTCCAAGATC	0.592000														5			4		0	0	0.000602214	0	0
BRPF3	27154	broad.mit.edu	37	6	36169209	36169209	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:36169209C>T	uc003olv.4	+	1	1334	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	BRPF3_uc010jwb.3_Silent_p.L370L|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.L370L	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	370					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AAACCAGCCTCAATGGCACCA	0.572000														10			33		0	0	0.000692331	0	0
CCDC147	159686	broad.mit.edu	37	10	106152112	106152112	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:106152112C>T	uc001kyh.3	+	9	1621	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	496			S -> T (in dbSNP:rs11192036).							NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCTGTGAGATCAGACAGAAAT	0.299000														30			20		0	0	0.000295444	0	0
BTBD2	55643	broad.mit.edu	37	19	1997393	1997393	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:1997393C>T	uc002lup.1	-	1	477	c.477G>A	c.(475-477)acG>acA	p.T159T		NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	159	BTB.					cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAATCTCCGTGGATGTTG	0.622000														49			28		0	0	0.00106085	0	0
SPINK13	153218	broad.mit.edu	37	5	147653930	147653930	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:147653930T>A	uc003lpc.3	+	2	294	c.91T>A	c.(91-93)Ttc>Atc	p.F31I	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	31						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						TAAACGTGACTTCACTAGGTG	0.343000														96			45		0	0	0.000781405	0	0
DDX43	55510	broad.mit.edu	37	6	74111671	74111671	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:74111671A>G	uc003pgw.3	+	3	870	c.526A>G	c.(526-528)Att>Gtt	p.I176V	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	176						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTGGGATCAAATTAGAGAGGA	0.373000														39			95		0	0	0.000781405	0	0
LETM1	3954	broad.mit.edu	37	4	1843299	1843299	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:1843299G>A	uc003gdv.3	-	2	666	c.369C>T	c.(367-369)tcC>tcT	p.S123S	LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Silent_p.S123S	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	123					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGGACTTGAGGGACTTCTCTA	0.612000														24			8		0	0	0.000157383	0	0
ZEB2	9839	broad.mit.edu	37	2	145147101	145147101	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:145147101G>A	uc002tvu.3	-	9	4084	c.3562C>T	c.(3562-3564)Cac>Tac	p.H1188Y	ZEB2_uc010zbm.2_Missense_Mutation_p.H1164Y|ZEB2_uc002tvv.3_Missense_Mutation_p.H1182Y|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1188	Glu-rich (acidic).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCATGGAGTGATCTCCAGTC	0.438000														90			71		0	0	0.000781405	0	0
LRRC30	339291	broad.mit.edu	37	18	7231222	7231222	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:7231222C>A	uc010wzk.2	+	0	86	c.86C>A	c.(85-87)cCg>cAg	p.P29Q		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	29										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGTTTTCTCCGTGGGACGAT	0.612000														20			20		8.34094e-07	8.44113e-06	0.000132079	1	0
LRCH4	4034	broad.mit.edu	37	7	100179429	100179429	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:100179429C>T	uc003uvj.3	-	3	622	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	190					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGTTCCTCCGGACATTGAG	0.577000														33			11		0	0	0.000151284	0	0
GRTP1	79774	broad.mit.edu	37	13	113999219	113999219	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr13:113999219G>T	uc010tkc.2	-	4	618	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	GRTP1_uc001vtn.3_Missense_Mutation_p.S174Y|GRTP1_uc010tkb.2_Missense_Mutation_p.S96Y	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.E173*(1)		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)			CAGCCAAAAAGATTCTTCTTC	0.353000														21			24		7.01153e-11	7.18203e-10	0.000184323	1	0
MLL2	8085	broad.mit.edu	37	12	49445809	49445809	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:49445809G>A	uc001rta.4	-	9	1657	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	553	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGACAAAGGAGATTCTTCA	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				46			26		0	0	0.000227799	0	0
PPARG	5468	broad.mit.edu	37	3	12393094	12393094	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:12393094G>A	uc003bwx.3	+	0	94	c.3G>A	c.(1-3)atG>atA	p.M1I	PPARG_uc003bwr.3_Intron|PPARG_uc003bws.3_Intron|PPARG_uc003bwu.3_Intron|PPARG_uc003bwv.3_Intron|PPARG_uc010hdz.1_Intron|PPARG_uc003bwt.1_Intron|PPARG_uc003bww.1_Missense_Mutation_p.M1I	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	1					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATGCTGTTATGGGTGAAACTC	0.393000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							198			93		0	0	0.000781405	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660429	77660429	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:77660429C>T	uc011cbx.2	+	4	2056	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	SHROOM3_uc011cbz.1_Missense_Mutation_p.S192F|SHROOM3_uc003hkf.1_Missense_Mutation_p.S243F|SHROOM3_uc003hkg.3_Missense_Mutation_p.S146F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	368					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGCCCCAGTTCCTTGGAGACT	0.607000														23			14		0	0	0.000566183	0	0
C2orf53	339779	broad.mit.edu	37	2	27360866	27360866	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:27360866G>A	uc002rjb.2	-	2	912	c.332C>T	c.(331-333)tCc>tTc	p.S111F	C2orf53_uc021vfb.1_Missense_Mutation_p.S111F	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	111	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ggagggagaggatgcacgtgg	0.562000														3			4		0	0	0.00024832	0	0
TIMM22	29928	broad.mit.edu	37	17	904266	904267	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:904266_904267GG>TT	uc002fsc.3	+	3	549_550	c.523_524GG>TT	c.(523-525)ggg>TTg	p.G175L		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	175					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTTAAAGGCTGGGGCCATTGGT	0.530000														196			6		0	0	6.4e-05	0	0
TMC3	342125	broad.mit.edu	37	15	81625167	81625167	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:81625167G>A	uc021ssk.1	-	21	2896	c.2896C>T	c.(2896-2898)Ctc>Ttc	p.L966F	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	966						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCCCGACGGAGGTCTATCAGG	0.587000														22			4		0	0	0.000602214	0	0
BFSP1	631	broad.mit.edu	37	20	17495447	17495447	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:17495447G>A	uc002wpo.3	-	2	492	c.453C>T	c.(451-453)gcC>gcT	p.A151A	BFSP1_uc002wpp.3_Silent_p.A26A|BFSP1_uc010zrn.2_Silent_p.A12A|BFSP1_uc010zro.2_Silent_p.A12A	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	151	Coil 1B.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TATGCAGCAAGGCTTCATCAG	0.522000														60			15		0	0	0.000422831	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679118	51679118	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:51679118T>G	uc011bdt.2	+	15	2654	c.2529T>G	c.(2527-2529)gaT>gaG	p.D843E	RAD54L2_uc003dbh.3_Missense_Mutation_p.D432E|RAD54L2_uc011bdu.2_Missense_Mutation_p.D537E|RAD54L2_uc003dbj.3_Missense_Mutation_p.D169E	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	843	Helicase C-terminal.					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)		CTTGCCATGATGCCCAGGCAG	0.483000														48			15		0	0	0.000566183	0	0
OR8B4	283162	broad.mit.edu	37	11	124294282	124294282	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:124294282C>G	uc010sak.2	-	0	486	c.486G>C	c.(484-486)atG>atC	p.M162I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGTCGCAGCATGCTTCCAG	0.542000														3			5		0	0	8.12818e-05	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283665	37283665	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:37283665G>A	uc002rpp.1	-	15	2413	c.2317C>T	c.(2317-2319)Ccc>Tcc	p.P773S		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	773							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGAGGGAGGGGACCAGGTACT	0.478000														40			12		0	0	0.000151284	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:48267238G>A	uc001ngs.1	+	0	583	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G195V(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000														75			42		0	0	0.000437636	0	0
TSEN54	283989	broad.mit.edu	37	17	73517849	73517849	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:73517849C>T	uc002jof.1	+	7	720	c.687C>T	c.(685-687)tcC>tcT	p.S229S	TSEN54_uc002joe.1_3'UTR	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	Homo sapiens tRNA splicing endonuclease 54 homolog (S. cerevisiae) (TSEN54), mRNA.	229					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCAGCCTCCAGCCCACCTC	0.622000														9			5		0	0	8.12818e-05	0	0
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:20721180G>A	uc010kuh.3	+	14	1997	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_uc003suw.4_Missense_Mutation_p.R142Q	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	142	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTATTCGAAGTGCAGAT	0.403000														24			9		0	0	0.000442599	0	0
RYR1	6261	broad.mit.edu	37	19	39023320	39023320	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:39023320C>T	uc002oit.3	+	77	11333	c.11203C>T	c.(11203-11205)Ctg>Ttg	p.L3735L	RYR1_uc002oiu.3_Silent_p.L3730L|RYR1_uc002oiv.1_Silent_p.L650L|RYR1_uc010xuf.1_Silent_p.L655L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3735					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)	GAGCTGCCACCTGGAGGAGGG	0.617000														29			9		0	0	0.000978159	0	0
LRRC7	57554	broad.mit.edu	37	1	70503805	70503805	+	Silent	SNP	A	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:70503805A>T	uc001dep.3	+	18	2214	c.2184A>T	c.(2182-2184)ccA>ccT	p.P728P	LRRC7_uc009wbg.3_Silent_p.P12P|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	728						centrosome|focal adhesion|nucleolus	protein binding	p.P728Q(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATTGCACCATCTTTCCCAC	0.512000														71			31		0	0	0.000409698	0	0
ZNF563	147837	broad.mit.edu	37	19	12429881	12429881	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:12429881G>A	uc002mtp.3	-	3	1196	c.958C>T	c.(958-960)Cat>Tat	p.H320Y		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTCCAAGATGATGAAATGTT	0.438000														54			19		0	0	0.000958276	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602710	96602710	+	Missense_Mutation	SNP	G	A	A	rs144036596	byFrequency	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:96602710G>A	uc010qnz.2	+	6	1078	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	CYP2C19_uc010qny.2_Missense_Mutation_p.D338N	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	360					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATACATCGACCTCATCCC	0.537000														32			24		0	0	0.000586117	0	0
AHNAK	79026	broad.mit.edu	37	11	62294090	62294090	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62294090G>A	uc001ntl.3	-	4	8099	c.7799C>T	c.(7798-7800)tCt>tTt	p.S2600F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2600					nervous system development	nucleus	protein binding	p.S2600Y(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGCAGAGAAACATCCAC	0.507000														92			36		0	0	0.00111076	0	0
ECD	11319	broad.mit.edu	37	10	74916361	74916361	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:74916361G>A	uc009xqx.3	-	3	619	c.376C>T	c.(376-378)Cct>Tct	p.P126S	ECD_uc001jtn.3_Missense_Mutation_p.P126S|ECD_uc009xqy.3_Missense_Mutation_p.P126S|ECD_uc001jto.3_5'UTR	NM_001135752	NP_001129224	O95905	SGT1_HUMAN	Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.	126					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AGCCATTTAGGGAGAAAGTCA	0.338000														65			35		0	0	0.000509022	0	0
GPR6	2830	broad.mit.edu	37	6	110300536	110300536	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:110300536C>T	uc011eav.2	+	2	510	c.266C>T	c.(265-267)cCg>cTg	p.P89L	GPR6_uc011eaw.2_Missense_Mutation_p.P74L|GPR6_uc003ptu.3_Missense_Mutation_p.P74L|GPR6_uc021zds.1_Missense_Mutation_p.P74L	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	74						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCGGTGAATCCGTGGGACGTG	0.692000														31			11		0	0	0.000151284	0	0
SPTB	6710	broad.mit.edu	37	14	65252634	65252635	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:65252634_65252635GG>AA	uc001xht.3	-	15	3647_3648	c.3596_3597CC>TT	c.(3595-3597)tcc>tTT	p.S1199F	SPTB_uc001xhr.3_Missense_Mutation_p.S1199F|SPTB_uc001xhs.3_Missense_Mutation_p.S1199F|SPTB_uc001xhu.3_Missense_Mutation_p.S1199F	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1199					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.S1199C(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCTTCCAGGGAGTCTGGGGG	0.530000														62			10		0	0	6.4e-05	0	0
CFTR	1080	broad.mit.edu	37	7	117227832	117227832	+	Missense_Mutation	SNP	G	A	A	rs113993959	byFrequency	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:117227832G>A	uc003vjd.3	+	11	1756	c.1624G>A	c.(1624-1626)Gga>Aga	p.G542R	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	542	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TATAGTTCTTGGAGAAGGTGG	0.358000									Cystic Fibrosis					23			17		0	0	0.000958276	0	0
OR2M3	127062	broad.mit.edu	37	1	248366886	248366886	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:248366886G>A	uc010pzg.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000														88			51		0	0	0.000781405	0	0
RFX6	222546	broad.mit.edu	37	6	117203570	117203570	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:117203570T>C	uc003pxm.3	+	3	608	c.545T>C	c.(544-546)cTt>cCt	p.L182P		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	182					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACAAGGCGGCTTGGAACAAGA	0.393000														7			5		0	0	8.12818e-05	0	0
BCL9	607	broad.mit.edu	37	1	147094242	147094242	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:147094242T>A	uc001epq.3	+	8	3813	c.3073T>A	c.(3073-3075)Tac>Aac	p.Y1025N	BCL9_uc010ozr.1_Missense_Mutation_p.Y951N	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	1025	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACCCCGTTATACCATGATGC	0.483000			T	"""IGH@, IGL@"""	B-ALL									64			27		0	0	0.000720815	0	0
PLIN4	729359	broad.mit.edu	37	19	4513645	4513645	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:4513645C>T	uc002mar.1	-	2	285	c.285G>A	c.(283-285)ggG>ggA	p.G95G	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	95	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						CGCTGGCCACCCCGGAGGACA	0.627000														3			3		0	0	6.4e-05	0	0
ERGIC1	57222	broad.mit.edu	37	5	172362241	172362241	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:172362241C>T	uc003mbw.4	+	8	887	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ERGIC1_uc003mby.4_Silent_p.F139F|ERGIC1_uc011dfa.2_Silent_p.F176F|ERGIC1_uc003mca.4_Non-coding_Transcript	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	231					ER to Golgi vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATCTGGTTCCGCTACGACC	0.582000														28			9		0	0	0.000673444	0	0
CNTN5	53942	broad.mit.edu	37	11	99941237	99941237	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:99941237G>A	uc001pga.3	+	10	1748	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CNTN5_uc009ywv.2_Missense_Mutation_p.G415E|CNTN5_uc001pfz.3_Missense_Mutation_p.G415E|CNTN5_uc021qpb.1_Missense_Mutation_p.G415E|CNTN5_uc021qpc.1_Missense_Mutation_p.G341E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	415	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGGCTACTGGAAAACCCAGA	0.473000														14			8		0	0	0.000274275	0	0
AFF1	4299	broad.mit.edu	37	4	88052237	88052237	+	Silent	SNP	G	A	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:88052237G>A	uc011ccz.2	+	16	3242	c.2967G>A	c.(2965-2967)acG>acA	p.T989T	AFF1_uc003hqj.4_Silent_p.T982T|AFF1_uc003hqk.4_Silent_p.T982T|AFF1_uc011cda.2_Silent_p.T620T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	982						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCTGCAGACGGACAGGGTTG	0.458000														29			25		0	0	0.000227799	0	0
COL5A1	1289	broad.mit.edu	37	9	137717717	137717717	+	Silent	SNP	G	A	A	rs148006741		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:137717717G>A	uc004cfe.3	+	62	5416	c.5034G>A	c.(5032-5034)tcG>tcA	p.S1678S	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1678	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGGGGTCGACATGCGTCT	0.592000														20			7		0	0	0.000274275	0	0
LCTL	197021	broad.mit.edu	37	15	66850189	66850190	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:66850189_66850190CC>AA	uc002aqc.3	-	7	924_925	c.792_793GG>TT	c.(790-795)tggggg>tgTTgg	p.264_265WG>CW	LCTL_uc002aqd.4_Missense_Mutation_p.91_92WG>CW|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	264					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAGGTTCCCCCCAGTCACAGT	0.525000														185			7		0	0	6.4e-05	0	0
CACNA1D	776	broad.mit.edu	37	3	53694300	53694301	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:53694300_53694301CC>TT	uc003dgv.4	+	4	927_928	c.764_765CC>TT	c.(763-765)ccc>cTT	p.P255L	CACNA1D_uc003dgu.4_Missense_Mutation_p.P255L|CACNA1D_uc003dgy.4_Missense_Mutation_p.P255L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	255					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCAGGAGTGCCCAGTAAGCACT	0.515000														21			11		0	0	6.4e-05	0	0
DES	1674	broad.mit.edu	37	2	220286118	220286118	+	Silent	SNP	C	T	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:220286118C>T	uc002vll.3	+	5	1166	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	360	Coil 2B.|Rod.		A -> P (in MFM1; heterozygous with Ile- 391 gives a severe childhood-onset; unable to form a filamentous network; abolishes binding to MTM1).|Missing (in MFM1).		cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGTGAGGCCAGTGGCTACC	0.597000														22			12		0	0	0.000978159	0	0
RUSC1	23623	broad.mit.edu	37	1	155295247	155295247	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:155295247delC	uc001fkj.2	+	4	1903	c.1674delC	c.(1672-1674)agcfs	p.S558fs	RUSC1-AS1_uc001fki.3_5'Flank|RUSC1_uc001fkk.2_Frame_Shift_Del_p.S558fs|RUSC1_uc009wqo.1_Frame_Shift_Del_p.S89fs|RUSC1_uc001fkl.2_Frame_Shift_Del_p.S148fs|RUSC1_uc001fkp.2_Frame_Shift_Del_p.S89fs|RUSC1_uc010pgb.1_Frame_Shift_Del_p.S56fs|RUSC1_uc009wqp.1_Frame_Shift_Del_p.S83fs|RUSC1_uc001fko.2_Non-coding_Transcript|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fkr.2_Frame_Shift_Del_p.S89fs	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	558	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCAGGAGCAGCCCCTGGAGCG	0.721											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	4	---	---	2	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	-	-	rs3045983		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:79950742_79950750delCCCCCAGCT	uc003kgz.3	+	0	449_457	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_uc003kgy.1_5'UTR|DHFR_uc011ctl.2_In_Frame_Del_p.11_14GAGG>G|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					---	3	---	---	3	---					
FMN1	342184	broad.mit.edu	37	15	33359256	33359256	+	Frame_Shift_Del	DEL	A	-	-	rs34563484		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:33359256delA	uc001zhf.4	-	0	830	c.830delT	c.(829-831)ttcfs	p.F277fs	FMN1_uc001zhg.2_Frame_Shift_Del_p.F277fs	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	400	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAGCCCACTGAAAAAAGCTGG	0.468													---	44	---	---	58	---					
SNRNP70	6625	broad.mit.edu	37	19	49611383	49611384	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:49611383_49611384delGG	uc002pmk.3	+	9	1436_1437	c.997_998delGG	c.(997-999)gggfs	p.G333fs	SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_Frame_Shift_Del_p.Q119fs	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	333					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						TGGGCCTCCAGGGGAGCTCGGG	0.762													---	4	---	---	2	---