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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF618	114991	broad.mit.edu	37	9	116812345	116812345	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:116812345G>A	ENST00000288466.7	+	14	2583	c.2484G>A	c.(2482-2484)ggG>ggA	p.G828G	ZNF618_ENST00000374126.5_Silent_p.G921G|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	921					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G921G(1)|p.G838G(1)|p.G828G(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCAGAAGCGGGTGTGTAAATA	0.507000													30	75					0	0	0.153744	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307955	140307955	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:140307955C>T	ENST00000253807.2	+	1	1478	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S493L|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2												p.S493L(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGGCCATCAGCCTCTAGC	0.537000													81	42					0	0	0.139131	0	0
SLC35F4	341880	broad.mit.edu	37	14	58031040	58031040	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:58031040G>A	ENST00000556826.1	-	8	1507	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	SLC35F4_ENST00000554729.1_Missense_Mutation_p.T301I|SLC35F4_ENST00000339762.6_Missense_Mutation_p.T460I	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.T460I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGATGATGGTAGCAGCCAG	0.453000													11	10					0	0	0.093190	0	0
THEMIS	387357	broad.mit.edu	37	6	128134483	128134483	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:128134483C>T	ENST00000368250.1	-	5	1564	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	THEMIS_ENST00000537166.1_Missense_Mutation_p.V400I|THEMIS_ENST00000543064.1_Missense_Mutation_p.V435I|THEMIS_ENST00000368248.2_Missense_Mutation_p.V435I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	435	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.V435I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATCACCTCTACAAAACCTCCT	0.433000													22	54					0	0	0.069288	0	0
NOS3	4846	broad.mit.edu	37	7	150696094	150696094	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:150696094C>T	ENST00000297494.3	+	8	1234	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	NOS3_ENST00000461406.1_Silent_p.L87L|NOS3_ENST00000467517.1_Silent_p.L293L|NOS3_ENST00000484524.1_Silent_p.L293L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	293	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.L293L(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCCCTGCTGCTGCAGGCCCC	0.652000													72	135					0	0	0.139131	0	0
RIOK2	55781	broad.mit.edu	37	5	96508967	96508967	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:96508967C>T	ENST00000283109.3	-	5	567	c.499G>A	c.(499-501)Gca>Aca	p.A167T	RIOK2_ENST00000508447.1_Splice_Site_p.A167T|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	167							ATP binding|protein serine/threonine kinase activity	p.A167T(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCATACAATGCCTAAAATGTT	0.333000													12	26					0	0	0.093190	0	0
TCN2	6948	broad.mit.edu	37	22	31011460	31011460	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr22:31011460G>A	ENST00000215838.3	+	5	1247	c.753G>A	c.(751-753)caG>caA	p.Q251Q	TCN2_ENST00000405742.3_Splice_Site_p.Q247Q|TCN2_ENST00000407817.3_Splice_Site_p.Q224Q			P20062	TCO2_HUMAN	transcobalamin II	251					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	p.Q251Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCATTACAGGTGGGAAAGA	0.607000													44	24					0	0	0.139131	0	0
RAB13	5872	broad.mit.edu	37	1	153958590	153958590	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:153958590G>A	ENST00000368575.3	-	1	238	c.123C>T	c.(121-123)atC>atT	p.I41I	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	41					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	p.I41I(2)		breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGGCTCACCGATGGTGGAGA	0.552000													9	53					0	0	0.069234	0	0
IFITM5	387733	broad.mit.edu	37	11	299346	299346	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:299346G>C	ENST00000382614.2	-	1	180	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	49					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane		p.L49V(1)		lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAACACAGATTCAGGTAG	0.662000													4	6					0	0	0.038147	0	0
FAT4	79633	broad.mit.edu	37	4	126336818	126336818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr4:126336818C>T	ENST00000394329.3	+	5	6713	c.6700C>T	c.(6700-6702)Cga>Tga	p.R2234*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R532*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2234	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2234*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCAACAGATCGAGGCAGCAC	0.438000													42	78					0	0	0.124865	0	0
MUC3A	4584	broad.mit.edu	37	7	100550224	100550224	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:100550224G>A	ENST00000379458.4	+	2	805	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated									p.V269M(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CACAAATACAGTGACTTCTAT	0.478000													62	69					0	0	0.139131	0	0
USP29	57663	broad.mit.edu	37	19	57641980	57641980	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:57641980C>T	ENST00000254181.4	+	4	2391	c.1937C>T	c.(1936-1938)cCa>cTa	p.P646L	USP29_ENST00000598197.1_Missense_Mutation_p.P646L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	646					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.P646L(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGGAGCTTCCAGTGGCTGAC	0.507000													22	27					0	0	0.099896	0	0
ARID4B	51742	broad.mit.edu	37	1	235377119	235377119	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:235377119G>A	ENST00000264183.3	-	17	2303	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	ARID4B_ENST00000366603.2_Silent_p.V602V|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.V602V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCAAGTAAAGGACCTCTCCAC	0.358000													33	185					0	0	0.214465	0	0
FOLH1	2346	broad.mit.edu	37	11	49176040	49176040	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:49176040G>A	ENST00000340334.7	-	17	1951	c.1583C>T	c.(1582-1584)aCa>aTa	p.T528I	FOLH1_ENST00000533034.1_Missense_Mutation_p.T528I|FOLH1_ENST00000343844.4_Missense_Mutation_p.T235I|FOLH1_ENST00000356696.3_Missense_Mutation_p.T543I|FOLH1_ENST00000256999.2_Missense_Mutation_p.T543I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	543	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.T543I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GAATTTGTTTGTTTCCTACAG	0.323000													5	14					0	0	0.184627	0	0
RSPH6A	81492	broad.mit.edu	37	19	46314063	46314063	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:46314063A>G	ENST00000221538.3	-	2	828	c.686T>C	c.(685-687)cTg>cCg	p.L229P	RSPH6A_ENST00000597055.1_Missense_Mutation_p.L229P|RSPH6A_ENST00000600188.1_5'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	229						intracellular		p.L229P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCGCTGGTTCAGGATCTTGGT	0.632000													3	71					0	0	0.115264	0	0
FAM84B	157638	broad.mit.edu	37	8	127569399	127569399	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:127569399T>G	ENST00000304916.3	-	2	691	c.236A>C	c.(235-237)cAc>cCc	p.H79P	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	79						cytoplasm|plasma membrane	protein binding	p.H79P(1)		lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TTCCACCTCGTGCAGCCGCGG	0.716000													12	16					0	0	0.105934	0	0
NRSN2	80023	broad.mit.edu	37	20	334124	334124	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr20:334124G>A	ENST00000382291.3	+	4	700	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.E154K|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	154						integral to membrane|plasma membrane|transport vesicle		p.E154K(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CTTGGACCCCGAAGCCGACAG	0.622000													45	113					0	0	0.139131	0	0
PODN	127435	broad.mit.edu	37	1	53546444	53546444	+	Silent	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:53546444G>T	ENST00000371500.3	+	11	1985	c.1644G>T	c.(1642-1644)ggG>ggT	p.G548G	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.G567G|PODN_ENST00000395871.2_Silent_p.G425G	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	519					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.G567G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCCGAGGGGCTCCCCGAGT	0.587000													39	11					2.19358e-23	2.41792e-23	0.080422	1	0
MSLNL	401827	broad.mit.edu	37	16	822685	822685	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:822685G>A	ENST00000293892.3	-	12	2421	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	MSLNL_ENST00000442466.1_Splice_Site_p.R457W			Q96KJ4	MSLNL_HUMAN	mesothelin-like	457					cell adhesion	integral to membrane		p.R808W(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TTGGCTCACCGGAGCTCCTGG	0.667000													3	4					0	0	0.115264	0	0
SPTA1	6708	broad.mit.edu	37	1	158636180	158636180	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:158636180C>T	ENST00000368147.4	-	16	2326	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G716R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGCCTTTCCCATAATCCTCA	0.537000													38	32					0	0	0.214465	0	0
ANKMY1	51281	broad.mit.edu	37	2	241420353	241420353	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:241420353C>T	ENST00000391987.1	-	17	3146		c.e17+1		ANKMY1_ENST00000361678.4_Splice_Site|ANKMY1_ENST00000373320.4_Splice_Site|ANKMY1_ENST00000403283.1_Splice_Site|ANKMY1_ENST00000401804.1_Splice_Site|ANKMY1_ENST00000373318.2_Splice_Site|ANKMY1_ENST00000406958.1_Splice_Site|ANKMY1_ENST00000272972.3_Splice_Site	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								zinc ion binding	p.?(2)		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)		GGCCGACCTACCGATGGCCAC	0.642000													39	47					0	0	0.131918	0	0
PLCL1	5334	broad.mit.edu	37	2	198949278	198949278	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:198949278C>T	ENST00000428675.1	+	2	1435	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	PLCL1_ENST00000437704.2_Missense_Mutation_p.T248I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	346					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T248I(1)|p.T346I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAGGAGTCACCCATATCACC	0.393000													63	4					0	0	0.139131	0	0
PARP9	83666	broad.mit.edu	37	3	122277249	122277249	+	Silent	SNP	C	C	T	rs59755035		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:122277249C>T	ENST00000360356.2	-	3	308	c.81G>A	c.(79-81)caG>caA	p.Q27Q	PARP9_ENST00000477522.2_Intron|PARP9_ENST00000462315.1_Intron|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	27					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.Q27Q(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAAAGACTTTCTGAAACAAGA	0.463000													24	62					0	0	0.091800	0	0
NME8	51314	broad.mit.edu	37	7	37901704	37901704	+	Silent	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:37901704T>C	ENST00000199447.4	+	7	717	c.345T>C	c.(343-345)gaT>gaC	p.D115D	NME8_ENST00000440017.1_Silent_p.D115D|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	115	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.D115D(1)									ATTTGATCGATGAGGAGAGAA	0.358000													12	21					0	0	0.093190	0	0
DNAH5	1767	broad.mit.edu	37	5	13913952	13913952	+	Missense_Mutation	SNP	C	C	T	rs150601733		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:13913952C>T	ENST00000265104.4	-	11	1540	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	479	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R479H(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGGCAAGGCGTCGGTGAAA	0.368000									Kartagener syndrome				42	40					0	0	0.104719	0	0
CHD5	26038	broad.mit.edu	37	1	6206806	6206806	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:6206806C>T	ENST00000262450.3	-	10	1608	c.1509G>A	c.(1507-1509)ctG>ctA	p.L503L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	503	Chromo 1.|Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L503L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGATGCCCTCCAGGGGCTTAG	0.647000													9	30					0	0	0.058154	0	0
SPEG	10290	broad.mit.edu	37	2	220344839	220344839	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:220344839C>T	ENST00000312358.7	+	25	5451	c.5319C>T	c.(5317-5319)ccC>ccT	p.P1773P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1773	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.P1773P(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATCAGAGCCCCGTGTCTGGAG	0.617000													32	39					0	0	0.214465	0	0
LCN9	392399	broad.mit.edu	37	9	138555250	138555250	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:138555250A>G	ENST00000277526.3	+	1	83	c.83A>G	c.(82-84)tAc>tGc	p.Y28C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	28						extracellular region	pheromone binding|transporter activity	p.Y28C(2)		kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CAGAGGAACTACAACGTGGCC	0.627000													26	32					0	0	0.099896	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504041	123504041	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:123504041C>T	ENST00000371139.4	+	3	516	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	SH2D1A_ENST00000360027.4_Missense_Mutation_p.H73Y|SH2D1A_ENST00000491950.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	73	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.H73Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACCTGGGGTACATAAAAGATA	0.368000													65	112					0	0	0.139131	0	0
ABTB2	25841	broad.mit.edu	37	11	34182492	34182492	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:34182492G>A	ENST00000435224.2	-	11	2779	c.2355C>T	c.(2353-2355)acC>acT	p.T785T	ABTB2_ENST00000298992.2_Silent_p.T599T	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	599							DNA binding	p.T599T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCAAGCCCTCGGTCACCAGCT	0.602000													31	31					0	0	0.173368	0	0
MKRN3	7681	broad.mit.edu	37	15	23811572	23811572	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr15:23811572C>T	ENST00000314520.3	+	1	1119	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	215						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R215C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTACCGGGGCCGCTGGGTTGC	0.592000													13	15					0	0	0.132662	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128857989	128857989	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:128857989G>A	ENST00000310343.9	-	12	1184	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	ARHGAP32_ENST00000527272.1_Silent_p.F46F|ARHGAP32_ENST00000524655.1_Silent_p.F321F|ARHGAP32_ENST00000392657.3_Silent_p.F46F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	395	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.F46F(1)|p.F395F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTCTCAATGAATGCTGTGC	0.393000													19	38					0	0	0.204396	0	0
OSBPL3	26031	broad.mit.edu	37	7	24932082	24932082	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:24932082C>T	ENST00000313367.2	-	2	461	c.10G>A	c.(10-12)Gat>Aat	p.D4N	OSBPL3_ENST00000396431.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000353930.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000409069.1_Missense_Mutation_p.D4N|OSBPL3_ENST00000431825.2_Missense_Mutation_p.D4N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	4					lipid transport		lipid binding|protein binding	p.D4N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCTTCTCATCACTCATCATG	0.478000													21	27					0	0	0.076483	0	0
KIAA1109	84162	broad.mit.edu	37	4	123171629	123171629	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr4:123171629C>T	ENST00000264501.4	+	37	6196	c.5823C>T	c.(5821-5823)acC>acT	p.T1941T	KIAA1109_ENST00000388738.3_Silent_p.T1941T|KIAA1109_ENST00000455637.1_Silent_p.T1941T			Q2LD37	K1109_HUMAN	KIAA1109	1941					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.T1941T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTCTCCAACCGGCAGTGGCT	0.418000													39	59					0	0	0.203993	0	0
KDM5B	10765	broad.mit.edu	37	1	202705488	202705488	+	Silent	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:202705488G>C	ENST00000367265.3	-	21	4281	c.3117C>G	c.(3115-3117)ctC>ctG	p.L1039L	KDM5B_ENST00000367264.2_Silent_p.L1075L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1039					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.L1039L(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAAGTTCTATGAGTGTGTCTA	0.423000													18	79					0	0	0.204396	0	0
ZNF394	84124	broad.mit.edu	37	7	99097605	99097605	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:99097605G>A	ENST00000337673.6	-	1	315	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	ZNF394_ENST00000426306.2_Missense_Mutation_p.P38S|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P38S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACTTTCACGGGCAAAAGTCCG	0.652000													4	94					0	0	0.150653	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004206	102004206	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:102004206G>C	ENST00000372735.1	+	4	868	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	BHLHB9_ENST00000447531.1_Missense_Mutation_p.E95Q|BHLHB9_ENST00000361229.4_Missense_Mutation_p.E95Q|BHLHB9_ENST00000457056.1_Missense_Mutation_p.E95Q|BHLHB9_ENST00000448867.1_Missense_Mutation_p.E95Q			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	95						cytoplasm|nucleus	binding	p.E95Q(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCTGGGAATGAGTCCACCAG	0.512000													18	51					0	0	0.175082	0	0
NLRC3	197358	broad.mit.edu	37	16	3613170	3613170	+	RNA	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:3613170C>T	ENST00000301749.7	-	0	2173				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.G637R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCAGGGCCCCGCTCTCCATG	0.697000													4	7					0	0	0.184627	0	0
MYH7B	57644	broad.mit.edu	37	20	33582027	33582027	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr20:33582027C>G	ENST00000262873.7	+	25	2741	c.2649C>G	c.(2647-2649)ttC>ttG	p.F883L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	841						membrane|myosin filament	actin binding|ATP binding|motor activity	p.F883L(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCTCTTTTTCAAGATGAAGC	0.647000													52	189					0	0	0.139131	0	0
KIF17	57576	broad.mit.edu	37	1	21031304	21031304	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:21031304C>T	ENST00000247986.2	-	5	1069	c.759G>A	c.(757-759)acG>acA	p.T253T	KIF17_ENST00000375044.1_Silent_p.T153T|KIF17_ENST00000400463.3_Silent_p.T253T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	253	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.T253T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCGCTCGCCCGTGGCCCCGG	0.677000													21	87					0	0	0.055883	0	0
BRD2	6046	broad.mit.edu	37	6	32947663	32947663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:32947663G>T	ENST00000395289.2	+	12	3606	c.2005G>T	c.(2005-2007)Gag>Tag	p.E669*	BRD2_ENST00000374825.4_Nonsense_Mutation_p.E634*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.E634*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E514*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E587*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.E669*			P25440	BRD2_HUMAN	bromodomain containing 2	634	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity	p.E669*(1)		central_nervous_system(3)|stomach(2)	5						TTATGATTCAGAGGAGGAGGA	0.522000													10	40					3.07112e-06	3.18041e-06	0.080935	1	0
HNRNPR	10236	broad.mit.edu	37	1	23637376	23637376	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:23637376G>A	ENST00000478691.1	-	10	1450	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	HNRNPR_ENST00000426846.2_Silent_p.Y331Y|HNRNPR_ENST00000374612.1_Silent_p.Y491Y|HNRNPR_ENST00000374616.3_Silent_p.Y494Y|HNRNPR_ENST00000302271.6_Silent_p.Y491Y|HNRNPR_ENST00000606561.1_Silent_p.Y352Y|HNRNPR_ENST00000427764.2_Silent_p.Y453Y|HNRNPR_ENST00000476660.1_5'UTR	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	491	RRM 3.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.Y491Y(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CATCATAGCCGTAGTAGGGAT	0.507000													122	96					0	0	0.139131	0	0
FAM177A1	283635	broad.mit.edu	37	14	35550231	35550231	+	Missense_Mutation	SNP	G	G	C	rs56876270		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:35550231G>C	ENST00000396472.1	+	7	898	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	FAM177A1_ENST00000382406.3_Missense_Mutation_p.E147Q|FAM177A1_ENST00000280987.4_Missense_Mutation_p.E170Q	NM_001079519.1	NP_001072987.1	Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	147								p.E147Q(1)		breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						TTTTTAGgaagaagaagaaga	0.333000													3	21					0	0	0.115264	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802171	185802171	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:185802171C>T	ENST00000302277.6	+	4	2642	c.2048C>T	c.(2047-2049)aCt>aTt	p.T683I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	683						intracellular	zinc ion binding	p.T683I(1)		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						GAATACAACACTTATGATACT	0.303000													36	1					0	0	0.173368	0	0
ATRX	546	broad.mit.edu	37	X	76764097	76764097	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:76764097C>G	ENST00000373344.5	-	35	7425	c.7211G>C	c.(7210-7212)tGt>tCt	p.C2404S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C2366S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2404					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.C2404S(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCGCTGAACACAGCTGATTAA	0.403000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						121	155					0	0	0.139131	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429029	23429029	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:23429029C>T	ENST00000519973.1	+	4	876	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	226					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.V226V(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		AGGAGCAGGTCAACCCCCACC	0.642000													18	22					0	0	0.175082	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221323	1221323	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:1221323C>T	ENST00000304460.10	+	11	1652	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	532					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V532V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTGGCAAGTCACGTGGCGCG	0.562000													12	35					0	0	0.080935	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609945	115609945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr10:115609945C>A	ENST00000361384.2	-	2	1836	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	307					cell division|mitosis	nucleus	hydrolase activity	p.E307*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAGTGTCTTCATCACTTTGA	0.398000								Other identified genes with known or suspected DNA repair function					57	98					3.40343e-31	3.79462e-31	0.139131	1	0
DLL1	28514	broad.mit.edu	37	6	170594690	170594690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:170594690G>A	ENST00000366756.3	-	6	1162	c.829C>T	c.(829-831)Cag>Tag	p.Q277*		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	277	EGF-like 2.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.Q277*(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGCCTTCCTGGCAGTTGCAC	0.627000													32	54					0	0	0.163468	0	0
SLC39A5	283375	broad.mit.edu	37	12	56629078	56629078	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:56629078T>C	ENST00000266980.4	+	5	1065	c.772T>C	c.(772-774)Tgt>Cgt	p.C258R	SLC39A5_ENST00000454355.2_Missense_Mutation_p.C258R	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	258					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.C257R(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCACTCTTTGTGGGGATGC	0.617000													112	77					0	0	0.139131	0	0
ATR	545	broad.mit.edu	37	3	142183957	142183957	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:142183957G>C	ENST00000350721.4	-	41	7144	c.7023C>G	c.(7021-7023)ttC>ttG	p.F2341L	ATR_ENST00000383101.3_Missense_Mutation_p.F2277L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2341	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.F2341L(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAAGGAATTGAATTCCATTA	0.274000								Other conserved DNA damage response genes					26	13					0	0	0.108266	0	0
CDK12	51755	broad.mit.edu	37	17	37650822	37650822	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:37650822A>G	ENST00000447079.4	+	5	2327	c.2294A>G	c.(2293-2295)gAg>gGg	p.E765G	CDK12_ENST00000430627.2_Missense_Mutation_p.E765G	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	765	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E765G(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AATGAGAAAGAGGGCTTCCCA	0.388000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			10	42					0	0	0.069234	0	0
HDC	3067	broad.mit.edu	37	15	50550637	50550637	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr15:50550637C>A	ENST00000267845.3	-	3	684	c.282G>T	c.(280-282)atG>atT	p.M94I	HDC_ENST00000543581.1_Missense_Mutation_p.M94I	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	94					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.M94I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATCAGCCAGCATGTCTCCTA	0.577000													18	39					0.000175454	0.000180414	0.055883	1	0
LDLRAD4	753	broad.mit.edu	37	18	13621234	13621234	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr18:13621234G>A	ENST00000361205.4	+	5	968	c.300G>A	c.(298-300)ccG>ccA	p.P100P	LDLRAD4_ENST00000586765.1_Silent_p.P63P|LDLRAD4_ENST00000399848.3_Silent_p.P100P|LDLRAD4_ENST00000359446.5_Silent_p.P100P|LDLRAD4_ENST00000587757.1_Silent_p.P63P|LDLRAD4_ENST00000585931.1_Silent_p.P23P	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.P100P(1)|p.P63P(1)									TCAACCGCCCGAACCAGAGCC	0.622000													33	94					0	0	0.153744	0	0
PHF12	57649	broad.mit.edu	37	17	27233884	27233884	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:27233884C>T	ENST00000332830.4	-	14	3480	c.2670G>A	c.(2668-2670)caG>caA	p.Q890Q	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	890					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.Q890Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGATGACACTCTGCACTTTGG	0.542000													113	52					0	0	0.139131	0	0
PMEL	6490	broad.mit.edu	37	12	56355231	56355231	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:56355231G>A	ENST00000548747.1	-	3	866	c.204C>T	c.(202-204)ctC>ctT	p.L68L	PMEL_ENST00000548493.1_Silent_p.L68L|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000536427.1_Silent_p.L68L|PMEL_ENST00000550447.1_Silent_p.L31L|PMEL_ENST00000449260.2_Silent_p.L68L|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Silent_p.L68L|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Silent_p.L68L			P40967	PMEL_HUMAN	premelanosome protein	68					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	p.L68L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACTGACCTTGAGGGACACTT	0.517000													29	64					0	0	0.153744	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374183	113374183	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:113374183G>C	ENST00000316407.4	-	7	6756	c.6346C>G	c.(6346-6348)Cct>Gct	p.P2116A	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P2116A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	2116					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P2116A(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATGAGCAGGAGAGTATGGA	0.448000													27	67					0	0	0.091800	0	0
HECW2	57520	broad.mit.edu	37	2	197080609	197080609	+	Silent	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:197080609C>A	ENST00000260983.3	-	28	4769	c.4587G>T	c.(4585-4587)ggG>ggT	p.G1529G	HECW2_ENST00000409111.1_Silent_p.G1173G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.G1529G(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAGTGATTTTCCCCCATTTCT	0.388000													11	23					4.68919e-08	4.92619e-08	0.069234	1	0
LRRC8C	84230	broad.mit.edu	37	1	90178326	90178326	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:90178326C>G	ENST00000370454.4	+	3	452	c.197C>G	c.(196-198)tCt>tGt	p.S66C	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	66						endoplasmic reticulum membrane|integral to membrane		p.S66C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CAGAACCACTCTTCCCTTTCG	0.443000													12	34					0	0	0.080935	0	0
SPIRE2	84501	broad.mit.edu	37	16	89924757	89924757	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:89924757C>G	ENST00000378247.3	+	8	1157	c.1114C>G	c.(1114-1116)Ctg>Gtg	p.L372V	SPIRE2_ENST00000393062.2_Missense_Mutation_p.L372V	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	372					transport	cytoplasm|cytoskeleton	actin binding	p.L372V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GTTTGGCTCTCTGCCCTGCAT	0.657000													60	229					0	0	0.139131	0	0
SPEN	23013	broad.mit.edu	37	1	16256134	16256134	+	Silent	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:16256134T>C	ENST00000375759.3	+	11	3603	c.3399T>C	c.(3397-3399)taT>taC	p.Y1133Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1133					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.Y1133Y(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAAAAACTATTGCAGTCTTC	0.408000													7	16					0	0	0.029380	0	0
TNXB	7148	broad.mit.edu	37	6	32021483	32021483	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:32021483C>T	ENST00000375244.3	-	25	8674	c.8473G>A	c.(8473-8475)Gag>Aag	p.E2825K	TNXB_ENST00000375247.2_Splice_Site			P22105	TENX_HUMAN	tenascin XB	2880	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E2825K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCATCCTCTGGAGCTGGA	0.587000													14	42					0	0	0.105934	0	0
FTHL17	53940	broad.mit.edu	37	X	31089732	31089732	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:31089732C>G	ENST00000359202.3	-	1	438	c.339G>C	c.(337-339)caG>caC	p.Q113H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	113	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.Q113H(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCAGCAGGCTCTGGTTGACGT	0.602000													47	128					0	0	0.139131	0	0
WDR24	84219	broad.mit.edu	37	16	735981	735981	+	Silent	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:735981C>A	ENST00000293883.4	-	5	2220	c.1461G>T	c.(1459-1461)ctG>ctT	p.L487L	WDR24_ENST00000248142.6_Silent_p.L617L	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	617								p.L487L(1)|p.L617L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCATATCCTTCAGGTTGAAAC	0.652000													4	96					0.184627	0.186551	0.184627	1	0
ABCA2	20	broad.mit.edu	37	9	139903823	139903823	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:139903823G>A	ENST00000265662.5	-	45	6973	c.6826C>T	c.(6826-6828)Cgg>Tgg	p.R2276W	ABCA2_ENST00000371605.3_Splice_Site_p.R2275W|ABCA2_ENST00000341511.6_Splice_Site_p.R2276W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2275	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R2276W(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ccGGCTCACCGGTTCTTCAGG	0.741000													7	13					0	0	0.029380	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892742	205892742	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:205892742C>T	ENST00000367135.3	-	14	1610		c.e14-1		SLC26A9_ENST00000367134.2_Splice_Site|SLC26A9_ENST00000340781.4_Splice_Site	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9							integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.?(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCCATTTCGACTGGATGAAGC	0.507000													6	130					0	0	0.021553	0	0
FAM83C	128876	broad.mit.edu	37	20	33874706	33874706	+	Missense_Mutation	SNP	G	G	A	rs141772980		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr20:33874706G>A	ENST00000374408.3	-	4	1972	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	626								p.R626W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTCTGCCGCCGCTCATCTGGT	0.627000													53	56					0	0	0.139131	0	0
RPS2	6187	broad.mit.edu	37	16	2012182	2012182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:2012182G>A	ENST00000343262.4	-	7	855	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000530225.1_3'UTR|RPS2_ENST00000526522.1_Nonsense_Mutation_p.Q209*	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	267					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	p.Q267*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTGAACTCCTGATAGGGAGAC	0.512000													15	56					0	0	0.160694	0	0
ZNF135	7694	broad.mit.edu	37	19	58574893	58574893	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:58574893C>T	ENST00000506786.1	+	4	668	c.114C>T	c.(112-114)ccC>ccT	p.P38P	ZNF135_ENST00000439855.2_Silent_p.P80P|ZNF135_ENST00000401053.4_Silent_p.P92P|ZNF135_ENST00000511556.1_Silent_p.P80P|ZNF135_ENST00000313434.5_Silent_p.P80P|ZNF135_ENST00000359978.6_Silent_p.P92P			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	80					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P80P(1)|p.P92P(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CTAGACTTCCCCAAGGCGTGT	0.567000													36	44					0	0	0.092188	0	0
SAGE1	55511	broad.mit.edu	37	X	134987445	134987445	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:134987445G>T	ENST00000535938.1	+	5	515	c.348G>T	c.(346-348)agG>agT	p.R116S	SAGE1_ENST00000324447.3_Missense_Mutation_p.R116S|SAGE1_ENST00000370709.3_Missense_Mutation_p.R116S|SAGE1_ENST00000537770.1_Missense_Mutation_p.R116S	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	116								p.R116S(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTGAAGAGAGGATGGAAAATG	0.463000													20	96					4.96729e-08	5.19957e-08	0.204396	1	0
OR10G8	219869	broad.mit.edu	37	11	123900682	123900682	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:123900682C>T	ENST00000431524.1	+	1	386	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S118F(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGGTCATGTCCTGTGATCGC	0.562000													49	94					0	0	0.139131	0	0
KLF9	687	broad.mit.edu	37	9	73002701	73002701	+	Silent	SNP	G	G	A	rs140753874	byFrequency	TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:73002701G>A	ENST00000377126.2	-	2	1986	c.726C>T	c.(724-726)aaC>aaT	p.N242N		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	242					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N242N(1)		endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTCACAAAGCGTTGGCCAGCG	0.582000													26	67					0	0	0.099896	0	0
NCBP2L	392517	broad.mit.edu	37	X	107037530	107037530	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:107037530G>C	ENST00000509000.2	+	2	278	c.80G>C	c.(79-81)cGt>cCt	p.R27P	NCBP2L_ENST00000372379.2_Missense_Mutation_p.R27P					nuclear cap binding protein subunit 2-like									p.R315P(1)		large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						TTCAGTGGCCGTAAATTTCAG	0.433000													10	42					0	0	0.069234	0	0
MMEL1	79258	broad.mit.edu	37	1	2541243	2541243	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:2541243G>A	ENST00000288709.6	-	5	533	c.293C>T	c.(292-294)cCg>cTg	p.P98L	MMEL1_ENST00000378412.3_Missense_Mutation_p.P107L|MMEL1_ENST00000502556.1_Missense_Mutation_p.P107L	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	107					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.P98L(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTCCGTGGTCGGGTCCATGTT	0.597000													19	66					0	0	0.204396	0	0
UNC79	57578	broad.mit.edu	37	14	94155067	94155067	+	Silent	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:94155067C>G	ENST00000553484.1	+	46	7303	c.7149C>G	c.(7147-7149)ctC>ctG	p.L2383L	UNC79_ENST00000555664.1_Silent_p.L2322L|UNC79_ENST00000256339.4_Silent_p.L2184L|UNC79_ENST00000393151.2_Silent_p.L2361L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2361						integral to membrane		p.L2184L(1)|p.L2383L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGGGACATCTCAAAGTGGGGC	0.507000													59	44					0	0	0.139131	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:7577114C>T	ENST00000420246.2	-	8	956	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			57	0					0	0	0.139131	0	0
C14orf93	60686	broad.mit.edu	37	14	23457182	23457182	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:23457182C>T	ENST00000299088.6	-	6	1556	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.R376H|C14orf93_ENST00000397377.1_Missense_Mutation_p.R196H|C14orf93_ENST00000397382.4_Missense_Mutation_p.R376H|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R376H|C14orf93_ENST00000397379.3_Missense_Mutation_p.R376H|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	376						extracellular region		p.R376H(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CAGGGAGTTGCGGTACTCACG	0.532000													80	86					0	0	0.139131	0	0
CDH12	1010	broad.mit.edu	37	5	22078733	22078733	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:22078733C>T	ENST00000382254.1	-	5	1139	c.53G>A	c.(52-54)gGt>gAt	p.G18D	CDH12_ENST00000522262.1_Missense_Mutation_p.G18D|CDH12_ENST00000504376.2_Missense_Mutation_p.G18D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	18					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G18D(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGTTAGGAGACCTCCATCAAA	0.453000										HNSCC(59;0.17)			53	140					0	0	0.139131	0	0
USP10	9100	broad.mit.edu	37	16	84793807	84793807	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:84793807C>T	ENST00000219473.7	+	8	1593	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	USP10_ENST00000570191.1_Missense_Mutation_p.R498C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	494					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R494C(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAGGGATATTCGCCCTGGAGC	0.413000													5	23					0	0	0.184627	0	0
RSPRY1	89970	broad.mit.edu	37	16	57250884	57250884	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:57250884A>G	ENST00000537866.1	+	8	1711	c.838A>G	c.(838-840)Aat>Gat	p.N280D	RSPRY1_ENST00000394420.4_Missense_Mutation_p.N280D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	280						extracellular region	zinc ion binding	p.N280D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GTCCTGGGCTAATGATCCTGA	0.393000													40	170					0	0	0.098360	0	0
SYNE1	23345	broad.mit.edu	37	6	152748941	152748941	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:152748941C>T	ENST00000367255.5	-	38	5588	c.4987G>A	c.(4987-4989)Gaa>Aaa	p.E1663K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1670K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1663K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1670K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1733K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1663K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1663					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E1663K(2)|p.E1670K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGATAGTTCTTTCTCTAGC	0.418000										HNSCC(10;0.0054)			28	54					0	0	0.153744	0	0
ZNF296	162979	broad.mit.edu	37	19	45579562	45579562	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:45579562C>T	ENST00000303809.2	-	1	284	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	24					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E24K(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						ATTTCCATCTCGTCGTCTGGG	0.726000													13	38					0	0	0.146539	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132050	42132050	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:42132050C>A	ENST00000221954.2	-	2	459	c.349G>T	c.(349-351)Gca>Tca	p.A117S	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A117S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	117	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A117S(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TAGGATCCTGCGTCCTCCAGG	0.527000													70	187					1.08321e-29	1.2031e-29	0.139131	1	0
CACNA1B	774	broad.mit.edu	37	9	140901335	140901335	+	Splice_Site	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:140901335C>A	ENST00000371372.1	+	16	2236	c.2091C>A	c.(2089-2091)aaC>aaA	p.N697K	CACNA1B_ENST00000371363.1_Splice_Site_p.N697K|CACNA1B_ENST00000371355.4_Splice_Site_p.N698K|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Splice_Site_p.N697K|CACNA1B_ENST00000371357.1_Splice_Site_p.N698K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	697					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.N697K(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTTCGGAAACTGTATCCTTC	0.572000													12	13					0.010729	0.0109166	0.080935	1	0
LTBP1	4052	broad.mit.edu	37	2	33614357	33614357	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:33614357C>T	ENST00000404816.2	+	32	5171	c.4818C>T	c.(4816-4818)ccC>ccT	p.P1606P	LTBP1_ENST00000402934.1_Silent_p.P1225P|LTBP1_ENST00000390003.4_Silent_p.P1281P|LTBP1_ENST00000354476.3_Silent_p.P1607P|LTBP1_ENST00000407925.1_Silent_p.P1280P|LTBP1_ENST00000272273.5_Silent_p.P504P|LTBP1_ENST00000418533.2_Silent_p.P1238P|LTBP1_ENST00000404525.1_Silent_p.P1227P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1606					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.P1607P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGCCGATCCCTACTTCATCC	0.468000													29	83					0	0	0.092188	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753463	18753463	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:18753463G>A	ENST00000380548.4	+	16	2513	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	725	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R725H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCTTGTAACCGCTTTAATTGC	0.512000													6	33					0	0	0.021553	0	0
HELZ2	85441	broad.mit.edu	37	20	62195200	62195200	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr20:62195200C>T	ENST00000467148.1	-	8	5044	c.4975G>A	c.(4975-4977)Ggc>Agc	p.G1659S	HELZ2_ENST00000427522.2_Missense_Mutation_p.G1090S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator									p.G1659S(1)									GAGTAGTGGCCGCCCTGCTGC	0.711000													6	10					0	0	0.038147	0	0
C1orf198	84886	broad.mit.edu	37	1	231004093	231004093	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:231004093G>T	ENST00000366663.5	-	1	306	c.166C>A	c.(166-168)Ccc>Acc	p.P56T	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Missense_Mutation_p.P18T	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	56								p.P56T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCCCACTCGGGCCCGTACTTC	0.697000													20	33					6.12954e-19	6.70562e-19	0.099896	1	0
XPO7	23039	broad.mit.edu	37	8	21827081	21827081	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:21827081G>A	ENST00000434536.1	+	3	355	c.253G>A	c.(253-255)Gat>Aat	p.D85N	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Missense_Mutation_p.D86N|XPO7_ENST00000252512.9_Missense_Mutation_p.D85N			Q9UIA9	XPO7_HUMAN	exportin 7	85	Importin N-terminal.				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	p.D85N(1)		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)		ACAGCGAATAGATATTCGTAA	0.393000													8	8					0	0	0.047766	0	0
VWCE	220001	broad.mit.edu	37	11	61026731	61026731	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:61026731C>T	ENST00000335613.5	-	20	2670	c.2284G>A	c.(2284-2286)Gca>Aca	p.A762T	VWCE_ENST00000535710.1_Missense_Mutation_p.A227T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	762						extracellular region	calcium ion binding	p.A762T(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGCTGAATGCCACATTTCCG	0.587000													21	27					0	0	0.076483	0	0
ANKRD12	23253	broad.mit.edu	37	18	9254812	9254812	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr18:9254812G>A	ENST00000262126.4	+	9	1787	c.1547G>A	c.(1546-1548)aGa>aAa	p.R516K	ANKRD12_ENST00000383440.2_Missense_Mutation_p.R493K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.R493K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus		p.R516K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAAAGACCAGAGAGGAGGGG	0.343000													29	52					0	0	0.134883	0	0
DNAH17	8632	broad.mit.edu	37	17	76457697	76457697	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:76457697C>T	ENST00000389840.5	-	58	9350	c.9226G>A	c.(9226-9228)Gag>Aag	p.E3076K	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3085K					dynein, axonemal, heavy chain 17									p.E3085K(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTCGGCCTCGATGCCGACC	0.542000													6	17					0	0	0.021553	0	0
SCN7A	6332	broad.mit.edu	37	2	167263124	167263124	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:167263124G>C	ENST00000409855.1	-	25	4141	c.4015C>G	c.(4015-4017)Ctt>Gtt	p.L1339V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1339					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1339V(2)		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						GGAGGCACAAGGTAGGATCCT	0.423000													39	2					0	0	0.092188	0	0
ZNF419	79744	broad.mit.edu	37	19	58004247	58004247	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:58004247G>A	ENST00000424930.2	+	5	554	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ZNF419_ENST00000426954.2_Missense_Mutation_p.E96K|ZNF419_ENST00000415379.2_Missense_Mutation_p.E62K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.E108K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E96K|ZNF419_ENST00000347466.6_Missense_Mutation_p.E76K|ZNF419_ENST00000442920.2_Missense_Mutation_p.E95K	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E76K(1)|p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGCCGAGGCTGAGGAGGCTCC	0.468000													55	53					0	0	0.139131	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142561	3142561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:3142561G>A	ENST00000538082.2	-	2	550	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	ZSCAN10_ENST00000252463.2_Silent_p.P71P|ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_Intron	NM_001282416.1	NP_001269345.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	157					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P71P(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCGCGTGGCTGGGCTCCCGGT	0.682000													2	0					0	0	0.115264	0	0
FAM227B	196951	broad.mit.edu	37	15	49882012	49882012	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr15:49882012A>G	ENST00000299338.6	-	4	601	c.298T>C	c.(298-300)Tct>Cct	p.S100P	FAM227B_ENST00000560246.1_Missense_Mutation_p.S100P|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000558594.1_Missense_Mutation_p.S100P|FAM227B_ENST00000561064.1_Missense_Mutation_p.S100P	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B									p.S100P(1)									AATATTTCAGAGGTGTGGTTT	0.328000													10	22					0	0	0.058154	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330456	5330456	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:5330456T>C	ENST00000396872.3	+	3	424	c.263T>C	c.(262-264)tTc>tCc	p.F88S	SLC29A4_ENST00000406453.3_Missense_Mutation_p.F88S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.F88S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.F88S(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TACAACAGCTTCATCACGGAC	0.602000													4	94					0	0	0.047766	0	0
GRIK2	2898	broad.mit.edu	37	6	102069950	102069950	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:102069950A>G	ENST00000369138.1	+	2	732	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	GRIK2_ENST00000369137.3_Missense_Mutation_p.Q81R|GRIK2_ENST00000369134.4_Missense_Mutation_p.Q32R|GRIK2_ENST00000421544.1_Missense_Mutation_p.Q81R|GRIK2_ENST00000318991.6_Missense_Mutation_p.Q81R|GRIK2_ENST00000413795.1_Missense_Mutation_p.Q81R|GRIK2_ENST00000358361.3_Missense_Mutation_p.Q81R	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	81					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Q81R(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATGATACCCAGAAGATAAAC	0.358000													55	39					0	0	0.139131	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424054	89424054	+	RNA	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:89424054C>T	ENST00000532352.1	+	0	1517							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.T235I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTGTAGGAAACAAACAAATTC	0.318000													7	68					0	0	0.047766	0	0
MTM1	4534	broad.mit.edu	37	X	149809883	149809883	+	Nonsense_Mutation	SNP	C	C	T	rs132630306		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:149809883C>T	ENST00000370396.2	+	8	724	c.670C>T	c.(670-672)Cga>Tga	p.R224*	MTM1_ENST00000413012.2_Nonsense_Mutation_p.R187*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.R109*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.R129*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	224	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.R224*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCGAAATCGAATTCCAGT	0.438000													25	106					0	0	0.108266	0	0
SCO1	6341	broad.mit.edu	37	17	10600714	10600714	+	Silent	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:10600714C>G	ENST00000255390.5	-	1	171	c.111G>C	c.(109-111)gcG>gcC	p.A37A	SCO1_ENST00000582053.1_Intron|SCO1_ENST00000577427.1_Silent_p.A37A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	37					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	p.A37A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GCAAGACTCTCGCAGTCCCCT	0.672000													19	2					0	0	0.204396	0	0
A2M	2	broad.mit.edu	37	12	9259153	9259153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:9259153G>A	ENST00000318602.7	-	9	1235	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	310					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.Q310*(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCTTCAGCTGGAAGACCTTG	0.368000													3	12					0	0	0.150653	0	0
RNF135	84282	broad.mit.edu	37	17	29311659	29311659	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:29311659G>A	ENST00000328381.5	+	2	1270	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	RNF135_ENST00000443677.2_Intron|RNF135_ENST00000535306.2_Missense_Mutation_p.E133K|RNF135_ENST00000324689.4_Missense_Mutation_p.E133K	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	133					innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E133K(1)|p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GAGCATCACAGAAGTTGCTCA	0.483000													32	96					0	0	0.163468	0	0
CDK18	5129	broad.mit.edu	37	1	205492699	205492699	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:205492699C>T	ENST00000360066.2	+	3	520	c.219C>T	c.(217-219)ctC>ctT	p.L73L	CDK18_ENST00000429964.2_Silent_p.L73L|CDK18_ENST00000506784.1_Silent_p.L73L|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	71							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.L73L(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CGGGGCAGCTCTCCCCTGGCG	0.672000													3	16					0	0	0.184627	0	0
ATP8B3	148229	broad.mit.edu	37	19	1807231	1807231	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:1807231G>A	ENST00000539485.1	-	6	784	c.551C>T	c.(550-552)tCg>tTg	p.S184L	ATP8B3_ENST00000310127.6_Missense_Mutation_p.S184L|ATP8B3_ENST00000526092.2_Missense_Mutation_p.S131L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S131L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	184					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S184L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACTGAGCGAGAACCAGGG	0.642000													52	89					0	0	0.139131	0	0
DNAH5	1767	broad.mit.edu	37	5	13737394	13737394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:13737394G>A	ENST00000265104.4	-	66	11526	c.11422C>T	c.(11422-11424)Caa>Taa	p.Q3808*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3808					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3808*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGTTAATTTGAACTTCTGTC	0.423000									Kartagener syndrome				45	154					0	0	0.131918	0	0
CACNA1E	777	broad.mit.edu	37	1	181767565	181767565	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:181767565G>A	ENST00000526775.1	+	46	6516	c.6351G>A	c.(6349-6351)gcG>gcA	p.A2117A	CACNA1E_ENST00000360108.3_Silent_p.A2160A|CACNA1E_ENST00000367567.4_Silent_p.A1743A|CACNA1E_ENST00000357570.5_Silent_p.A2130A|CACNA1E_ENST00000367570.1_Silent_p.A2136A|CACNA1E_ENST00000367573.2_Silent_p.A2179A|CACNA1E_ENST00000358338.5_Silent_p.A2068A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2179					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A2136A(1)|p.A2179A(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCGACACGCGGGCAGCATCT	0.622000													103	70					0	0	0.139131	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86123573	86123573	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:86123573C>T	ENST00000431532.2	-	10	1360	c.1212G>A	c.(1210-1212)gtG>gtA	p.V404V	ZNHIT6_ENST00000370574.3_Silent_p.V443V	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	443					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	p.V443V(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CTTTCAATACCACATGTAATG	0.299000													25	84					0	0	0.083992	0	0
KDM6A	7403	broad.mit.edu	37	X	44929219	44929219	+	Silent	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:44929219A>G	ENST00000377967.4	+	17	2360	c.2319A>G	c.(2317-2319)ctA>ctG	p.L773L	KDM6A_ENST00000382899.4_Silent_p.L780L|KDM6A_ENST00000536777.1_Silent_p.L728L|KDM6A_ENST00000543216.1_Silent_p.L694L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	773					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.L773L(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGGTTTACTAAGTTCAGACA	0.478000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								22	25					0	0	0.069288	0	0
OR51G2	81282	broad.mit.edu	37	11	4936818	4936818	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:4936818C>G	ENST00000322013.3	-	1	104	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E26Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCATGCGCTCCAGCCCAGGG	0.532000													16	67					0	0	0.204396	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67559821	67559821	+	RNA	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:67559821G>C	ENST00000528089.1	-	0	1929																											TCCTGGGCCAGAGGCTAAAAC	0.587000													14	34					0	0	0.175082	0	0
S100G	795	broad.mit.edu	37	X	16669143	16669143	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:16669143A>T	ENST00000380200.3	+	2	68	c.14A>T	c.(13-15)aAg>aTg	p.K5M	CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000443824.1_Intron|CTPS2_ENST00000359276.4_Intron	NM_004057.2	NP_004048.1	P29377	S100G_HUMAN	S100 calcium binding protein G	5							calcium ion binding|vitamin D binding	p.K5M(1)		large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					AGTACTAAAAAGTCTCCTGAG	0.383000													32	132					0	0	0.163468	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443929	5443929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:5443929C>T	ENST00000300778.4	+	1	589	c.499C>T	c.(499-501)Cga>Tga	p.R167*	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167*(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTACTCAAGCGACTGCCTTT	0.517000													44	150					0	0	0.104719	0	0
DMXL2	23312	broad.mit.edu	37	15	51790751	51790751	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr15:51790751G>A	ENST00000251076.5	-	18	4957	c.4670C>T	c.(4669-4671)tCa>tTa	p.S1557L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1557L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1557						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.S1557L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATATTTACCTGAGCAACTCTT	0.373000													13	22					0	0	0.105934	0	0
POLE2	5427	broad.mit.edu	37	14	50154880	50154880	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:50154880G>C	ENST00000539565.2	-	1	260	c.42C>G	c.(40-42)ttC>ttG	p.F14L	POLE2_ENST00000554396.1_Missense_Mutation_p.F14L|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.F14L|POLE2_ENST00000553805.2_Missense_Mutation_p.F14L	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	14					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.F14L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCCGCAACTTGAAGGCGGAGA	0.731000													2	6					0	0	0.115264	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402526	136402526	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:136402526G>A	ENST00000393061.3	+	3	849		c.e3-1		ADAMTSL2_ENST00000393060.1_Splice_Site|ADAMTSL2_ENST00000354484.4_Splice_Site			Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.?(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CTCTCACCCAGGACAACAGCC	0.667000													41	78					0	0	0.124865	0	0
MUC5B	727897	broad.mit.edu	37	11	1269778	1269778	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:1269778T>C	ENST00000447027.1	+	31	11735	c.11677T>C	c.(11677-11679)Tgg>Cgg	p.W3893R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.W3890R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3890	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.W3845R(1)|p.W3890R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCTCCAGTGTGGATCAGCAC	0.652000													20	23					0	0	0.055883	0	0
CPNE9	151835	broad.mit.edu	37	3	9768403	9768403	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:9768403G>C	ENST00000383832.3	+	19	1589	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	CPNE9_ENST00000383831.3_Missense_Mutation_p.E467Q	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	467	VWFA.							p.E467Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGCCATGTTTGAGGGTGAGTA	0.542000													22	58					0	0	0.086207	0	0
TRIM68	55128	broad.mit.edu	37	11	4626603	4626603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:4626603C>T	ENST00000300747.5	-	2	421	c.132G>A	c.(130-132)tgG>tgA	p.W44*		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	44				W -> R (in Ref. 3; BAG51737).	protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.W44*(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGATCTCCCAGAGTCCAG	0.577000													30	49					0	0	0.134883	0	0
PTPN12	5782	broad.mit.edu	37	7	77265144	77265144	+	Missense_Mutation	SNP	G	G	A	rs144099562	by1000genomes	TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:77265144G>A	ENST00000248594.6	+	15	2392	c.2120G>A	c.(2119-2121)cGa>cAa	p.R707Q	PTPN12_ENST00000415482.2_Missense_Mutation_p.R588Q|PTPN12_ENST00000435495.2_Missense_Mutation_p.R577Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	707						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	p.R707Q(2)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGTCAGGAACGATCTGAACAA	0.313000													16	11					0	0	0.175082	0	0
FLG2	388698	broad.mit.edu	37	1	152325595	152325595	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:152325595G>C	ENST00000388718.5	-	3	4739	c.4667C>G	c.(4666-4668)tCt>tGt	p.S1556C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1556							calcium ion binding|structural molecule activity	p.S1556C(1)		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)			TTCATGACCAGAGTAGGAATG	0.483000													79	355					0	0	0.139131	0	0
BCORL1	63035	broad.mit.edu	37	X	129149014	129149014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:129149014C>T	ENST00000540052.1	+	3	2310	c.2266C>T	c.(2266-2268)Caa>Taa	p.Q756*	BCORL1_ENST00000303743.5_Nonsense_Mutation_p.Q756*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.Q756*|BCORL1_ENST00000218147.7_Nonsense_Mutation_p.Q756*	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	756					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Q756*(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CATCATTGATCAAGGAGAGCC	0.602000													28	83					0	0	0.134883	0	0
DSG4	147409	broad.mit.edu	37	18	28956922	28956922	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr18:28956922G>A	ENST00000359747.4	+	1	77	c.48G>A	c.(46-48)atG>atA	p.M16I	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Splice_Site_p.M16I	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	16					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.M16I(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCATTCTAATGGTAAGTAGAA	0.408000													7	40					0	0	0.029380	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278181	7278181	+	Silent	SNP	G	G	A	rs138478625		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:7278181G>A	ENST00000436587.2	+	3	739	c.516G>A	c.(514-516)acG>acA	p.T172T	C1GALT1_ENST00000402468.3_Silent_p.T172T|C1GALT1_ENST00000223122.3_Silent_p.T172T	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	172					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	p.T172T(1)		breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ATGATGACACGTATGTCATAC	0.363000													37	56					0	0	0.098360	0	0
GRM4	2914	broad.mit.edu	37	6	34008001	34008001	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:34008001G>A	ENST00000538487.2	-	8	1903	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	GRM4_ENST00000535756.1_Missense_Mutation_p.A354V|GRM4_ENST00000374181.4_Missense_Mutation_p.A487V|GRM4_ENST00000609222.1_Missense_Mutation_p.A354V|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.A347V|GRM4_ENST00000374177.3_Missense_Mutation_p.A371V|GRM4_ENST00000544773.2_Missense_Mutation_p.A318V	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A487V(2)|p.A371V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTTGTACTCGGCAGAATCGTT	0.567000													5	172					0	0	0.184627	0	0
CDK5	1020	broad.mit.edu	37	7	150754194	150754194	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:150754194C>T	ENST00000485972.1	-	2	772	c.91G>A	c.(91-93)Gct>Act	p.A31T	CDK5_ENST00000297518.4_Missense_Mutation_p.A31T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	31	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	p.A31T(1)		central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CGTTTCAGAGCCACGATCTCA	0.602000													68	183					0	0	0.139131	0	0
GNG3	2785	broad.mit.edu	37	11	62475847	62475847	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:62475847C>G	ENST00000294117.5	+	2	339	c.80C>G	c.(79-81)gCc>gGc	p.A27G	BSCL2_ENST00000405837.1_Intron|BSCL2_ENST00000433053.1_Intron|HNRNPUL2-BSCL2_ENST00000403734.2_Intron	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	27					activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity	p.A27G(1)		kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						AAGATTGAAGCCAGCTTGTGT	0.522000													28	34					0	0	0.144211	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962089	73962089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:73962089G>C	ENST00000055682.6	-	3	2914	c.2303C>G	c.(2302-2304)tCa>tGa	p.S768*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S768*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGAACTGTTTGATGTCCCAGG	0.423000													19	64					0	0	0.204396	0	0
SESN1	27244	broad.mit.edu	37	6	109309805	109309805	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:109309805C>G	ENST00000436639.2	-	9	2255	c.1510G>C	c.(1510-1512)Gaa>Caa	p.E504Q	SESN1_ENST00000302071.2_Missense_Mutation_p.E379Q|SESN1_ENST00000356644.7_Missense_Mutation_p.E445Q	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	445					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		p.E504Q(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GTAACCTTTTCAGGAGTGCAA	0.353000													27	15					0	0	0.099896	0	0
ATAD3A	55210	broad.mit.edu	37	1	1455591	1455591	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:1455591G>A	ENST00000378755.5	+	6	823	c.729G>A	c.(727-729)gcG>gcA	p.A243A	ATAD3A_ENST00000536055.1_Silent_p.A116A|ATAD3A_ENST00000378756.3_Silent_p.A195A	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	243							ATP binding|nucleoside-triphosphatase activity|protein binding	p.A243A(1)		endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		AGGCCCGGGCGCGCGCCAAGG	0.672000													11	16					0	0	0.093190	0	0
PLCG1	5335	broad.mit.edu	37	20	39798838	39798838	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr20:39798838G>A	ENST00000373272.2	+	24	3142	c.2737G>A	c.(2737-2739)Gcc>Acc	p.A913T	PLCG1_ENST00000373271.1_Missense_Mutation_p.A913T|PLCG1_ENST00000244007.3_Missense_Mutation_p.A913T	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	913	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.A913T(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGATGTTGCTGCCGACTCACA	0.612000													28	116					0	0	0.108266	0	0
GRIA4	2893	broad.mit.edu	37	11	105797580	105797580	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:105797580C>T	ENST00000393127.2	+	13	2407	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	GRIA4_ENST00000525187.1_Missense_Mutation_p.P654L|GRIA4_ENST00000530497.1_Missense_Mutation_p.P654L|GRIA4_ENST00000282499.5_Missense_Mutation_p.P654L	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	654					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.P654L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATGGTCTCTCCCATAGAAAGT	0.418000													17	29					0	0	0.160694	0	0
BPTF	2186	broad.mit.edu	37	17	65907526	65907526	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:65907526G>A	ENST00000321892.4	+	13	3965	c.3904G>A	c.(3904-3906)Gaa>Aaa	p.E1302K	BPTF_ENST00000424123.3_Missense_Mutation_p.E1163K|BPTF_ENST00000335221.5_Missense_Mutation_p.E1302K|BPTF_ENST00000306378.6_Missense_Mutation_p.E1176K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1302					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.E1176K(1)|p.E1302K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCGGAGCCCAGAAACAAAATG	0.388000													41	16					0	0	0.092188	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596840	142596840	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:142596840G>A	ENST00000370503.2	-	2	313	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	77								p.S77F(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATTGATGGAGTTCTCTTG	0.393000													115	132					0	0	0.139131	0	0
FBN3	84467	broad.mit.edu	37	19	8131009	8131009	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:8131009C>T	ENST00000600128.1	-	64	8638	c.8224G>A	c.(8224-8226)Gtc>Atc	p.V2742I	FBN3_ENST00000601739.1_Missense_Mutation_p.V2742I|FBN3_ENST00000270509.2_Missense_Mutation_p.V2742I			Q75N90	FBN3_HUMAN	fibrillin 3	2742						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.V2742I(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTTCCGCGGACGATGACGTAG	0.687000													27	55					0	0	0.144211	0	0
MYH7	4625	broad.mit.edu	37	14	23884440	23884440	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:23884440T>C	ENST00000355349.3	-	37	5485	c.5323A>G	c.(5323-5325)Acc>Gcc	p.T1775A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1775					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1775A(1)		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)		TGGGCGCTGGTGTCCTGCTCC	0.607000													13	210					0	0	0.119110	0	0
NRXN3	9369	broad.mit.edu	37	14	80327906	80327906	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:80327906G>C	ENST00000557594.1	+	6	2466	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	NRXN3_ENST00000428277.2_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	505					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCCCAGCCTGATATAGTCTT	0.522000													4	19					0	0	0.150653	0	0
NLGN1	22871	broad.mit.edu	37	3	173322753	173322753	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:173322753T>C	ENST00000457714.1	+	3	794	c.365T>C	c.(364-366)aTt>aCt	p.I122T	NLGN1_ENST00000401917.3_Missense_Mutation_p.I122T|NLGN1_ENST00000361589.4_Missense_Mutation_p.I122T|NLGN1_ENST00000545397.1_Missense_Mutation_p.I122T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	122					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.I122T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGAATATCATTGATGGCAGA	0.463000													74	41					0	0	0.139131	0	0
NOS2	4843	broad.mit.edu	37	17	26098034	26098034	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:26098034T>C	ENST00000313735.6	-	15	1947	c.1714A>G	c.(1714-1716)Atg>Gtg	p.M572V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	572	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.M572V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TACTTATCCATGCAGACAACC	0.617000													28	11					0	0	0.163468	0	0
GRIA4	2893	broad.mit.edu	37	11	105842684	105842684	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:105842684G>A	ENST00000282499.5	+	15	2784	c.2338G>A	c.(2338-2340)Gtc>Atc	p.V780I	GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000530497.1_Missense_Mutation_p.V780I|GRIA4_ENST00000533094.1_Intron|GRIA4_ENST00000393127.2_Intron	NM_000829.3	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	780					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.V780I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGAGGCAGGCGTCTTAGACAA	0.418000													10	19					0	0	0.093190	0	0
BRINP3	339479	broad.mit.edu	37	1	190250704	190250704	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:190250704G>T	ENST00000367462.3	-	3	644	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	138								p.S138Y(1)									CAGAGTAGCAGATAGCAAGAA	0.413000													18	82					2.94398e-08	3.10398e-08	0.189662	1	0
LRP1	4035	broad.mit.edu	37	12	57603647	57603647	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:57603647C>T	ENST00000243077.3	+	80	12901	c.12435C>T	c.(12433-12435)ccC>ccT	p.P4145P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4145					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P4145P(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAAGCAGCCCGAAGGTGGGG	0.632000													11	40					0	0	0.093190	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870854	15870854	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr21:15870854T>C	ENST00000285670.2	-	8	1206	c.1032A>G	c.(1030-1032)atA>atG	p.I344M	SAMSN1_ENST00000400564.1_Missense_Mutation_p.I108M|SAMSN1_ENST00000400566.1_Missense_Mutation_p.I276M|SAMSN1_ENST00000463807.1_5'UTR	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	276					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.I344M(1)|p.I276M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GACTCTCTTTTATATCTTTTA	0.323000													24	67					0	0	0.099896	0	0
ZNF273	10793	broad.mit.edu	37	7	64389174	64389174	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:64389174G>A	ENST00000476120.1	+	4	1539	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	ZNF273_ENST00000319636.5_Missense_Mutation_p.E425K|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E490K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CAAATGCAATGAATGTGGTAA	0.393000													25	54					0	0	0.076483	0	0
VPS11	55823	broad.mit.edu	37	11	118940031	118940031	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:118940031G>C	ENST00000300793.6	+	3	352	c.310G>C	c.(310-312)Gat>Cat	p.D104H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	105					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	p.D104H(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGTTGGAGAAGATGAAGAGGG	0.478000													15	41					0	0	0.146539	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878175	39878175	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:39878175G>A	ENST00000530275.1	+	1	2025	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	610										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			TCCCAGAGCAGGTCTTCCAGG	0.483000													37	30					0	0	0.193644	0	0
CHD7	55636	broad.mit.edu	37	8	61654942	61654942	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:61654942C>G	ENST00000423902.2	+	2	1430	c.951C>G	c.(949-951)aaC>aaG	p.N317K	CHD7_ENST00000524602.1_Missense_Mutation_p.N317K|CHD7_ENST00000525508.1_Missense_Mutation_p.N317K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	317					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.N317K(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTACAGTAACCTAAATCAGG	0.418000													28	124					0	0	0.116897	0	0
DNAH5	1767	broad.mit.edu	37	5	13776655	13776655	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:13776655G>A	ENST00000265104.4	-	55	9370	c.9266C>T	c.(9265-9267)tCg>tTg	p.S3089L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3089	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3089L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCACTGGCGAGAAGCAGAG	0.478000									Kartagener syndrome				23	67					0	0	0.076483	0	0
AFF2	2334	broad.mit.edu	37	X	148037678	148037678	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:148037678C>T	ENST00000370460.2	+	11	2582	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G	AFF2_ENST00000370457.5_Silent_p.G668G|AFF2_ENST00000286437.5_Silent_p.G342G|AFF2_ENST00000342251.3_Silent_p.G668G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	701					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.G701G(2)|p.G342G(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGCCTGGCAAGATTGTGC	0.502000													39	165					0	0	0.080422	0	0
TP53BP1	7158	broad.mit.edu	37	15	43724559	43724559	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr15:43724559C>T	ENST00000263801.3	-	17	3745	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1170K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1170K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1170K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1165					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	p.E1165K(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAAACAGTTTCTGGGACCCTC	0.458000								Other conserved DNA damage response genes					28	40					0	0	0.108266	0	0
PPOX	5498	broad.mit.edu	37	1	161140556	161140556	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:161140556C>T	ENST00000367999.4	+	11	1511	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	PPOX_ENST00000432542.2_Silent_p.H160H|PPOX_ENST00000535223.1_Silent_p.H78H|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Silent_p.H123H|PPOX_ENST00000352210.5_Silent_p.H415H	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	415					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.H415H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCATCTACACAAGGTAAGTT	0.507000													40	54					0	0	0.139131	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806804	97806804	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:97806804G>A	ENST00000358642.2	+	1	788	c.788G>A	c.(787-789)cGt>cAt	p.R263H		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R263H(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATGTATGTGCGTCCTGCATCT	0.428000													12	46					0	0	0.093190	0	0
KATNA1	11104	broad.mit.edu	37	6	149922846	149922846	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:149922846G>C	ENST00000367411.2	-	7	1030	c.772C>G	c.(772-774)Ctt>Gtt	p.L258V	KATNA1_ENST00000335647.5_Missense_Mutation_p.L258V|KATNA1_ENST00000335643.8_Missense_Mutation_p.L182V|KATNA1_ENST00000494504.1_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	258					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	p.L258V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GCTTTAGCAAGGAGCGTCTTC	0.443000													27	49					0	0	0.125774	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973232	79973232	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:79973232G>A	ENST00000306729.7	+	13	1732	c.1635G>A	c.(1633-1635)cgG>cgA	p.R545R	ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000582404.1_3'UTR	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	451							protein binding	p.R545R(1)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGACAGGCCGGGTAGGCTGCC	0.682000			T	TFE3	alveolar soft part sarcoma								14	34					0	0	0.132662	0	0
FRMPD3	84443	broad.mit.edu	37	X	106846053	106846053	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:106846053G>T	ENST00000276185.4	+	16	4883	c.4883G>T	c.(4882-4884)cGg>cTg	p.R1628L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1628						cytoskeleton		p.R1677L(1)|p.R1628L(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTGGCTGCCCGGCTGGACACC	0.637000													14	24					3.41278e-10	3.67822e-10	0.160694	1	0
KCNV1	27012	broad.mit.edu	37	8	110980444	110980444	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:110980444G>T	ENST00000524391.1	-	4	2408	c.1376C>A	c.(1375-1377)gCc>gAc	p.A459D	KCNV1_ENST00000297404.1_Missense_Mutation_p.A459D			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	459						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.A459D(1)		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)			TGAGTCAGTGGCTATATTCTT	0.443000													16	70					0.000422831	0.000433253	0.146539	1	0
ISM2	145501	broad.mit.edu	37	14	77948949	77948949	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:77948949G>A	ENST00000393684.3	-	5	816	c.425C>T	c.(424-426)cCc>cTc	p.P142L	ISM2_ENST00000412904.1_Missense_Mutation_p.P149L|ISM2_ENST00000342219.4_Missense_Mutation_p.P230L|ISM2_ENST00000429906.1_Missense_Mutation_p.P149L|ISM2_ENST00000493585.1_Intron			Q6H9L7	ISM2_HUMAN	isthmin 2	230	Poly-Glu.					extracellular region		p.P230L(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGGATTGCTGGGCTCAGCCAA	0.637000													118	145					0	0	0.139131	0	0
MST1L	11223	broad.mit.edu	37	1	17085065	17085065	+	RNA	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:17085065C>A	ENST00000455405.2	-	0	123																		p.E439D(1)|p.E470D(1)									TGCCACACTTCTCAAACTGCA	0.607000													8	104					2.80697e-09	3.00305e-09	0.080935	1	0
FBXO21	23014	broad.mit.edu	37	12	117610323	117610323	+	Silent	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:117610323G>C	ENST00000427718.2	-	7	1040	c.966C>G	c.(964-966)gtC>gtG	p.V322V	FBXO21_ENST00000330622.5_Silent_p.V322V|FBXO21_ENST00000549689.1_5'UTR	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	322					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.V322V(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TTGGGAAGTTGACAGGCTCCA	0.493000													67	48					0	0	0.139131	0	0
NLRP8	126205	broad.mit.edu	37	19	56466880	56466880	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:56466880G>A	ENST00000291971.3	+	3	1527	c.1456G>A	c.(1456-1458)Gcc>Acc	p.A486T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A486T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	486	NACHT.					cytoplasm	ATP binding	p.A486T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGGAGTCACCGCCTTCCTTGG	0.488000													7	143					0	0	0.038147	0	0
ZNF292	23036	broad.mit.edu	37	6	87971008	87971008	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:87971008C>T	ENST00000369577.3	+	8	7704	c.7661C>T	c.(7660-7662)tCa>tTa	p.S2554L	ZNF292_ENST00000339907.4_Missense_Mutation_p.S2549L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S2409L(1)|p.S2554L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAACCAGCATCAGCAGCTGAG	0.373000													14	19					0	0	0.132662	0	0
GRM5	2915	broad.mit.edu	37	11	88780634	88780634	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:88780634G>T	ENST00000418177.2	-	2	774	c.407C>A	c.(406-408)tCc>tAc	p.S136Y	GRM5_ENST00000455756.2_Missense_Mutation_p.S136Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S136Y|GRM5_ENST00000305432.5_Missense_Mutation_p.S136Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S136Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S136Y			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	136					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S136Y(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGAGCGGAAGGAAGAGGAGGA	0.512000													14	25					1.5842e-08	1.67637e-08	0.105934	1	0
EPHA5	2044	broad.mit.edu	37	4	66467438	66467438	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr4:66467438G>A	ENST00000273854.3	-	3	1431	c.831C>T	c.(829-831)agC>agT	p.S277S	EPHA5_ENST00000511294.1_Silent_p.S277S|EPHA5_ENST00000354839.4_Silent_p.S277S|EPHA5_ENST00000432638.2_Silent_p.S277S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	277	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.S277S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCCCTTCGGCGCTGCAGTGCA	0.522000										TSP Lung(17;0.13)			15	44					0	0	0.204396	0	0
FOXRED2	80020	broad.mit.edu	37	22	36889754	36889754	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr22:36889754G>A	ENST00000397224.4	-	8	1814	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P574L|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P126L|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P574L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	574					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P574L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGCCCGATCGGGGCAGTCCA	0.557000													9	37					0	0	0.160694	0	0
RGS22	26166	broad.mit.edu	37	8	101078406	101078406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:101078406G>T	ENST00000360863.6	-	7	907	c.713C>A	c.(712-714)tCa>tAa	p.S238*	RGS22_ENST00000523287.1_Nonsense_Mutation_p.S57*|RGS22_ENST00000523437.1_Nonsense_Mutation_p.S226*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	238					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S238*(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAAACAGATGAAATAGCTGG	0.343000													13	78					4.3838e-07	4.55602e-07	0.105934	1	0
EP400	57634	broad.mit.edu	37	12	132490706	132490706	+	Silent	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:132490706C>G	ENST00000333577.4	+	15	3202	c.3093C>G	c.(3091-3093)ctC>ctG	p.L1031L	EP400_ENST00000332482.4_Silent_p.L958L|EP400_ENST00000389561.2_Silent_p.L995L|EP400_ENST00000330386.6_Silent_p.L995L|EP400_ENST00000389562.2_Silent_p.L994L			Q96L91	EP400_HUMAN	E1A binding protein p400	1031	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L994L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACTTGGTTCTCATCGACTCGC	0.507000													29	40					0	0	0.125774	0	0
TYW1	55253	broad.mit.edu	37	7	66479465	66479465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:66479465C>T	ENST00000359626.5	+	5	651	c.487C>T	c.(487-489)Cga>Tga	p.R163*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	163	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.R163*(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATTGATTTTCGATTTGGCAA	0.438000													53	117					0	0	0.139131	0	0
LRFN5	145581	broad.mit.edu	37	14	42361125	42361125	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:42361125C>T	ENST00000298119.4	+	4	3247	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	686						integral to membrane		p.V686V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCGATTCTGTCACAGAGGGGC	0.478000										HNSCC(30;0.082)			7	40					0	0	0.058154	0	0
SIM1	6492	broad.mit.edu	37	6	100841696	100841696	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:100841696C>T	ENST00000369208.3	-	11	2019	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	SIM1_ENST00000262901.4_Missense_Mutation_p.D413N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	413	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D413N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGGCCGTGTCGGTCAAGGGA	0.572000													37	21					0	0	0.203993	0	0
PREX1	57580	broad.mit.edu	37	20	47242457	47242457	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr20:47242457C>T	ENST00000371941.3	-	40	4968	c.4946G>A	c.(4945-4947)cGc>cAc	p.R1649H	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1649					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R1649H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTGGCAGAGGCGGTAGAGGCT	0.587000													5	20					0	0	0.184627	0	0
OR1S1	219959	broad.mit.edu	37	11	57982648	57982648	+	Silent	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:57982648T>C	ENST00000309433.6	+	1	432	c.432T>C	c.(430-432)aaT>aaC	p.N144N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N144N(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACCCTCTGAATTATACAATTC	0.453000													4	130					0	0	0.150653	0	0
SLC4A5	57835	broad.mit.edu	37	2	74481774	74481774	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:74481774C>T	ENST00000394019.2	-	14	1482	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R362H|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R362H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R362H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R298H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R362H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R362H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R298H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	362						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.R362H(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCAATGGCACGGCCAATTTC	0.438000													71	322					0	0	0.139131	0	0
DCHS1	8642	broad.mit.edu	37	11	6661249	6661249	+	Silent	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:6661249C>A	ENST00000299441.3	-	2	2007	c.1596G>T	c.(1594-1596)acG>acT	p.T532T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T532T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAGGCAGCCGTAGTGATAA	0.582000													37	22					1.90571e-15	2.07701e-15	0.203993	1	0
ADCY4	196883	broad.mit.edu	37	14	24792260	24792260	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:24792260G>T	ENST00000310677.4	-	19	2305	c.2192C>A	c.(2191-2193)tCc>tAc	p.S731Y	ADCY4_ENST00000418030.2_Missense_Mutation_p.S731Y|ADCY4_ENST00000554068.2_Missense_Mutation_p.S731Y	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	731					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.S731Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAGGGAGCAGGAGAGGAAGCC	0.637000													15	42					1.5739e-10	1.70262e-10	0.146539	1	0
MIR503HG	84848	broad.mit.edu	37	X	133680727	133680727	+	RNA	SNP	T	T	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:133680727T>A	ENST00000362227.1	-	0	14					NR_029946.1													p.A5A(1)									CATGAATTGCTGCTGTATCCC	0.562000													11	18					0	0	0.080935	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496064	153496064	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:153496064G>A	ENST00000369929.4	+	5	852	c.792G>A	c.(790-792)aaG>aaA	p.K264K	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2									p.K264K(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCAGAGAAGGAAGTGACGC	0.582000													37	109					0	0	0.139131	0	0
SORCS3	22986	broad.mit.edu	37	10	106918677	106918677	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr10:106918677C>G	ENST00000369701.3	+	11	1884	c.1657C>G	c.(1657-1659)Caa>Gaa	p.Q553E		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	553						integral to membrane	neuropeptide receptor activity	p.Q553E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGCACCTGCAACTCTCTGA	0.463000													51	39					0	0	0.139131	0	0
NEK10	152110	broad.mit.edu	37	3	27161293	27161293	+	Missense_Mutation	SNP	G	G	A	rs147586444		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:27161293G>A	ENST00000429845.2	-	36	3681	c.3319C>T	c.(3319-3321)Cgt>Tgt	p.R1107C	NEK10_ENST00000383770.3_Missense_Mutation_p.R362C|NEK10_ENST00000295720.6_Missense_Mutation_p.R419C|NEK10_ENST00000383771.4_Missense_Mutation_p.R409C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1107							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1107C(1)|p.R1060C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCGGATGAACGATGTAATAAA	0.393000													30	53					0	0	0.173368	0	0
EID3	493861	broad.mit.edu	37	12	104698237	104698237	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:104698237C>T	ENST00000527879.1	+	1	721	c.525C>T	c.(523-525)ttC>ttT	p.F175F	TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.F175F(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTGGTTCATTCAAGCTAGAAC	0.423000													40	126					0	0	0.111260	0	0
PROS1	5627	broad.mit.edu	37	3	93605209	93605209	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:93605209G>A	ENST00000394236.3	-	11	1610	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	PROS1_ENST00000407433.1_Missense_Mutation_p.R301W	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	432	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R432W(1)|p.R432L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCCACTTTCCGAGGGAATCCT	0.378000													98	62					0	0	0.139131	0	0
TENM3	55714	broad.mit.edu	37	4	183721343	183721343	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr4:183721343G>A	ENST00000511685.1	+	28	8062	c.7939G>A	c.(7939-7941)Gcg>Acg	p.A2647T	TENM3_ENST00000406950.2_Missense_Mutation_p.A2647T					teneurin transmembrane protein 3									p.A2647T(1)									CGAGGAGGGCGCGCGCCTCTG	0.741000													9	2					0	0	0.093190	0	0
ZNF608	57507	broad.mit.edu	37	5	124080631	124080631	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:124080631C>T	ENST00000306315.5	-	1	487	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	18						intracellular	zinc ion binding	p.D18N(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCATAAGTATCAACTGTATTT	0.383000													30	69					0	0	0.163468	0	0
MXRA5	25878	broad.mit.edu	37	X	3239495	3239495	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:3239495T>C	ENST00000217939.6	-	5	4385	c.4231A>G	c.(4231-4233)Aaa>Gaa	p.K1411E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1411						extracellular region		p.K1411E(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAAGCTCTTTAAGAAGGGGA	0.502000													30	29					0	0	0.134883	0	0
CFH	3075	broad.mit.edu	37	1	196654203	196654203	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:196654203G>A	ENST00000367429.4	+	7	1040	c.800G>A	c.(799-801)tGt>tAt	p.C267Y	CFH_ENST00000359637.2_Missense_Mutation_p.C203Y|CFH_ENST00000439155.2_Missense_Mutation_p.C267Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	267	Sushi 5.				complement activation, alternative pathway	extracellular space		p.C267Y(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAAAAATCATGTGATAATCCT	0.289000													41	41					0	0	0.098360	0	0
C4orf50	389197	broad.mit.edu	37	4	5966859	5966859	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr4:5966859G>A	ENST00000531445.1	-	6	1939	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L	C4orf50_ENST00000324058.5_Silent_p.L157L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	157								p.L157L(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CAGGATTCAAGAGGTATGTCT	0.502000													16	35					0	0	0.160694	0	0
UBE2J2	118424	broad.mit.edu	37	1	1190692	1190692	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:1190692C>T	ENST00000347370.2	-	7	988	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	UBE2J2_ENST00000348298.7_Missense_Mutation_p.R172Q|UBE2J2_ENST00000400929.2_Missense_Mutation_p.R172Q|UBE2J2_ENST00000349431.6_Missense_Mutation_p.R224Q|UBE2J2_ENST00000339385.6_Missense_Mutation_p.R189Q|UBE2J2_ENST00000360466.2_Missense_Mutation_p.R224Q|UBE2J2_ENST00000400930.4_Missense_Mutation_p.R240Q	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	224					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.R240Q(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TCCGTGGTGCCGGTTGGCCTG	0.637000													31	105					0	0	0.144211	0	0
GABRA6	2559	broad.mit.edu	37	5	161119111	161119111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:161119111C>T	ENST00000523217.1	+	8	1203	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	GABRA6_ENST00000274545.5_Nonsense_Mutation_p.Q331*	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	331					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.Q331*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACCAATCTTCAGACACAGAA	0.453000										TCGA Ovarian(5;0.080)			62	45					0	0	0.139131	0	0
ATF6B	1388	broad.mit.edu	37	6	32095973	32095973	+	Silent	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:32095973C>G	ENST00000375201.4	-	1	57	c.12G>C	c.(10-12)ctG>ctC	p.L4L	ATF6B_ENST00000375203.3_Silent_p.L4L|ATF6B_ENST00000468502.1_5'UTR			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	4	Transcription activation.				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.L4L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAGCAGCATCAGCTCCGCCA	0.607000													51	30					0	0	0.139131	0	0
CNBD1	168975	broad.mit.edu	37	8	88249313	88249313	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:88249313G>T	ENST00000518476.1	+	6	795	c.744G>T	c.(742-744)gaG>gaT	p.E248D	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	248								p.E248D(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CACTTGCTGAGATGTACCTAC	0.378000													37	30					4.14481e-20	4.55147e-20	0.086207	1	0
FUBP3	8939	broad.mit.edu	37	9	133455140	133455140	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:133455140C>T	ENST00000319725.9	+	1	148	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	FUBP3_ENST00000467100.1_3'UTR	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	25					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	p.R25W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGCCCTGCACCGGGTCCGGCA	0.766000													2	1					0	0	0.115264	0	0
DPPA2	151871	broad.mit.edu	37	3	109031405	109031405	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:109031405C>T	ENST00000478945.1	-	3	414	c.168G>A	c.(166-168)aaG>aaA	p.K56K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	56						nucleus	nucleic acid binding	p.K56K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATTGTATTTCTTAGGCTTCT	0.418000													46	113					0	0	0.139131	0	0
FBXL7	23194	broad.mit.edu	37	5	15936774	15936774	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:15936774C>T	ENST00000504595.1	+	4	1436	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	FBXL7_ENST00000510662.1_Silent_p.L272L|FBXL7_ENST00000329673.7_Silent_p.L307L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	319					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L319L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTGCGCTACCTGGTGATCTA	0.672000													17	16					0	0	0.189662	0	0
ZNF224	7767	broad.mit.edu	37	19	44611292	44611292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:44611292C>T	ENST00000336976.6	+	6	1233	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	327					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	p.Q327*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGCTTTCGTCAGAGATCAGC	0.428000													33	125					0	0	0.173368	0	0
CTSA	5476	broad.mit.edu	37	20	44521121	44521121	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr20:44521121G>C	ENST00000372484.3	+	5	778	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	CTSA_ENST00000191018.5_Missense_Mutation_p.E148Q|CTSA_ENST00000354880.5_Missense_Mutation_p.E149Q|CTSA_ENST00000372459.2_Missense_Mutation_p.E148Q	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	148					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	p.E166Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAATGACACTGAGGTGAGTCT	0.552000													52	48					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9025599	9025599	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:9025599G>A	ENST00000397910.4	-	15	37058	c.36855C>T	c.(36853-36855)acC>acT	p.T12285T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12287	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T12285T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGAGCAAGGTCAATCTGC	0.522000													14	48					0	0	0.132662	0	0
ITGAV	3685	broad.mit.edu	37	2	187455218	187455218	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:187455218C>T	ENST00000261023.3	+	1	427	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ITGAV_ENST00000374907.3_Silent_p.F51F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	51					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.F51F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTCGGCTTCGCCGTGGATT	0.637000													19	25					0	0	0.055883	0	0
FBXL20	84961	broad.mit.edu	37	17	37457256	37457256	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:37457256C>G	ENST00000264658.6	-	4	492	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	FBXL20_ENST00000583610.1_Missense_Mutation_p.E78Q|FBXL20_ENST00000577399.1_Missense_Mutation_p.E80Q|FBXL20_ENST00000394294.3_Missense_Mutation_p.E78Q	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	78						cytoplasm		p.E78Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AATTATACCTCAATATCCCTC	0.393000													14	46					0	0	0.132662	0	0
MARCH5	54708	broad.mit.edu	37	10	94109544	94109544	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr10:94109544G>A	ENST00000358935.2	+	5	1002	c.670G>A	c.(670-672)Ggt>Agt	p.G224S		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	224					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	p.G224S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TACAATAGTTGGTAAATTGAT	0.383000													53	122					0	0	0.139131	0	0
MCF2L	23263	broad.mit.edu	37	13	113750868	113750868	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr13:113750868G>A	ENST00000375601.3	+	29	3532	c.3205G>A	c.(3205-3207)Gtc>Atc	p.V1069I	MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000375608.3_Missense_Mutation_p.V1095I|MCF2L_ENST00000375604.2_Missense_Mutation_p.V1122I|MCF2L_ENST00000535094.2_Missense_Mutation_p.V1065I|MCF2L_ENST00000442652.2_Missense_Mutation_p.V1095I|MCF2L_ENST00000423482.2_Missense_Mutation_p.V1063I|MCF2L_ENST00000434480.2_Missense_Mutation_p.V1071I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1095	SH3.				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.V1069I(1)|p.V1122I(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTGCAGGTACGTCAGGGACCC	0.736000													4	11					0	0	0.184627	0	0
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602000											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	95					0	0	0.183431	0	0
COL9A2	1298	broad.mit.edu	37	1	40775613	40775613	+	Missense_Mutation	SNP	G	G	C	rs140305893		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:40775613G>C	ENST00000372748.3	-	16	939	c.843C>G	c.(841-843)gaC>gaG	p.D281E		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	281	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX		p.D281D(2)|p.D281E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GACTCACCTCGTCACCCTTCT	0.612000													46	176					0	0	0.139131	0	0
BAGE2	85319	broad.mit.edu	37	21	11049513	11049513	+	RNA	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr21:11049513G>T	ENST00000470054.1	-	0	595									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGAGTAACCGCTGTATCCAG	0.458000													7	122					5.16669e-11	5.6101e-11	0.080935	1	0
FAM47A	158724	broad.mit.edu	37	X	34149314	34149314	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647000													16	55					0	0	0.146539	0	0
ZNF248	57209	broad.mit.edu	37	10	38121959	38121959	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr10:38121959G>A	ENST00000395867.3	-	6	874	c.324C>T	c.(322-324)aaC>aaT	p.N108N	ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Silent_p.N108N|ZNF248_ENST00000357328.4_Silent_p.N108N	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N108N(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTACTGTTTTGTTGTTGTGGA	0.358000													30	106					0	0	0.134883	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24990327	24990327	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:24990327C>T	ENST00000289968.6	-	2	123		c.e2-1		ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site|ARHGAP17_ENST00000575975.1_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	p.?(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTTCTCAGCTCTGTGGGAAAA	0.308000													15	19					0	0	0.132662	0	0
CDK8	1024	broad.mit.edu	37	13	26927985	26927985	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr13:26927985C>A	ENST00000381527.3	+	4	927	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	CDK8_ENST00000536792.1_Missense_Mutation_p.L142M	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	142	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.L142M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TATTCACTACCTGCATGCTAA	0.403000													71	33					1.59627e-33	1.78659e-33	0.139131	1	0
XPR1	9213	broad.mit.edu	37	1	180794388	180794388	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:180794388C>T	ENST00000367590.4	+	9	1240	c.1042C>T	c.(1042-1044)Cca>Tca	p.P348S	XPR1_ENST00000367589.3_Missense_Mutation_p.P348S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	348						integral to plasma membrane	G-protein coupled receptor activity	p.P348S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATATGTGTATCCACTTGCCCT	0.438000													222	172					0	0	0.139131	0	0
MYOF	26509	broad.mit.edu	37	10	95157003	95157003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr10:95157003C>T	ENST00000371489.1	-	15	1457	c.1335G>A	c.(1333-1335)tgG>tgA	p.W445*	MYOF_ENST00000359263.4_Splice_Site|MYOF_ENST00000358334.5_Splice_Site|MYOF_ENST00000371502.4_Splice_Site|MYOF_ENST00000371501.4_Splice_Site			Q9NZM1	MYOF_HUMAN	myoferlin	445	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTCAACTCACCAGTCATATA	0.269000													9	38					0	0	0.047766	0	0
TXNRD2	10587	broad.mit.edu	37	22	19868214	19868214	+	Silent	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr22:19868214C>A	ENST00000535882.1	-	13	1109	c.1110G>T	c.(1108-1110)gcG>gcT	p.A370A	TXNRD2_ENST00000400518.1_Silent_p.A341A|TXNRD2_ENST00000400519.1_Silent_p.A370A|TXNRD2_ENST00000400521.1_Silent_p.A371A|TXNRD2_ENST00000542719.1_Silent_p.A341A			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	371			I -> T (in dbSNP:rs1139793).		cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	p.A371A(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CGGCCATGATCGCTATGGGTG	0.622000													12	26					0.000566183	0.000578103	0.160694	1	0
FAM71C	196472	broad.mit.edu	37	12	100042274	100042274	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:100042274G>C	ENST00000324341.1	+	1	744	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	108								p.E108Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCAGAAAAGAGAAAGTCCGCC	0.522000													24	64					0	0	0.116897	0	0
BZRAP1	9256	broad.mit.edu	37	17	56395743	56395743	+	Silent	SNP	G	G	A	rs138887181		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:56395743G>A	ENST00000355701.3	-	14	2640	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	BZRAP1_ENST00000268893.6_Silent_p.L530L|BZRAP1_ENST00000343736.4_Silent_p.L590L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	590						mitochondrion	benzodiazepine receptor binding	p.L590L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGACCCCAGTGAGAGTGGCAG	0.627000													24	75					0	0	0.125774	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223343	118223343	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:118223343A>G	ENST00000402510.2	-	11	1849	c.1850T>C	c.(1849-1851)aTg>aCg	p.M617T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	617								p.M617T(1)|p.M441T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCTCCTTCCCATGTCATCTTT	0.463000													41	36					0	0	0.092188	0	0
CD101	9398	broad.mit.edu	37	1	117559730	117559730	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr1:117559730C>T	ENST00000256652.4	+	5	1305	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	CD101_ENST00000369470.1_Missense_Mutation_p.S416F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	416	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.S416F(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGTCATGTCTACCAAGAAC	0.413000													20	72					0	0	0.069288	0	0
TMEM2	23670	broad.mit.edu	37	9	74324386	74324386	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr9:74324386G>A	ENST00000377044.4	-	17	3313	c.2774C>T	c.(2773-2775)tCt>tTt	p.S925F	TMEM2_ENST00000377066.5_Missense_Mutation_p.S862F	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	925						integral to membrane		p.S925F(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GACATTCAGAGAGACCTGACC	0.453000													30	42					0	0	0.134883	0	0
COL5A2	1290	broad.mit.edu	37	2	189950444	189950444	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:189950444C>T	ENST00000374866.3	-	10	1019		c.e10+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGACATTTACCATTGGTCCA	0.403000													23	22					0	0	0.083992	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132285	59132285	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:59132285C>T	ENST00000313940.2	+	1	401	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A118A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCATGACAGCCATGGCTTATG	0.438000													5	133					0	0	0.184627	0	0
BAZ1B	9031	broad.mit.edu	37	7	72865289	72865289	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:72865289G>A	ENST00000339594.4	-	14	3806	c.3468C>T	c.(3466-3468)atC>atT	p.I1156I	BAZ1B_ENST00000404251.1_Silent_p.I1156I	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1156					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.I1156I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCTTCCCGGATTGCTGTCT	0.483000													31	51					0	0	0.134883	0	0
FOXG1	2290	broad.mit.edu	37	14	29236560	29236560	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr14:29236560C>T	ENST00000382535.3	+	2	444	c.75C>T	c.(73-75)ccC>ccT	p.P25P	FOXG1_ENST00000313071.4_Silent_p.P25P			P55316	FOXG1_HUMAN	forkhead box G1	25					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P25P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCCTGGTGCCCGAGGCGGTCC	0.627000													3	12					0	0	0.115264	0	0
SYT3	84258	broad.mit.edu	37	19	51136047	51136047	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:51136047G>A	ENST00000338916.4	-	2	803	c.170C>T	c.(169-171)tCg>tTg	p.S57L	SYT3_ENST00000593901.1_Missense_Mutation_p.S57L|SYT3_ENST00000544769.1_Missense_Mutation_p.S57L|SYT3_ENST00000600079.1_Missense_Mutation_p.S57L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	57						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S57L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CACGATGACCGACAGCAGGCT	0.577000													28	74					0	0	0.116897	0	0
KLHL13	90293	broad.mit.edu	37	X	117053608	117053608	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:117053608A>G	ENST00000371876.1	-	3	2714	c.293T>C	c.(292-294)aTt>aCt	p.I98T	KLHL13_ENST00000539496.1_Missense_Mutation_p.I152T|KLHL13_ENST00000541812.1_Missense_Mutation_p.I133T|KLHL13_ENST00000540167.1_Missense_Mutation_p.I133T|KLHL13_ENST00000262820.3_Missense_Mutation_p.I149T|KLHL13_ENST00000469946.1_Missense_Mutation_p.I98T|KLHL13_ENST00000371878.1_Missense_Mutation_p.I98T|KLHL13_ENST00000545703.1_Missense_Mutation_p.I107T|KLHL13_ENST00000371882.1_Missense_Mutation_p.I98T			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	149	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.I149T(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						AATGAAATCAATAATTTTCCT	0.353000													55	88					0	0	0.139131	0	0
SNX32	254122	broad.mit.edu	37	11	65618824	65618824	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:65618824C>G	ENST00000308342.6	+	8	1160	c.735C>G	c.(733-735)atC>atG	p.I245M		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	245					cell communication|protein transport		phosphatidylinositol binding	p.I245M(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		ATATCCCTATCTCAGCTGCGC	0.562000											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	44					0	0	0.029380	0	0
SDK2	54549	broad.mit.edu	37	17	71391324	71391324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:71391324G>A	ENST00000392650.3	-	25	3562	c.3562C>T	c.(3562-3564)Cag>Tag	p.Q1188*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.Q1188*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1188	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.Q1188*(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCACCGTCTGGCTCCAGGGC	0.662000													11	6					0	0	0.093190	0	0
NOTUM	147111	broad.mit.edu	37	17	79910997	79910997	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:79910997T>C	ENST00000409678.3	-	11	1714	c.1331A>G	c.(1330-1332)cAc>cGc	p.H444R		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	444						extracellular region	hydrolase activity	p.H378R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGGGTTGCAGTGGGGCCAGGG	0.647000													28	24					0	0	0.125774	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052286	55052286	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:55052286G>A	ENST00000474759.1	+	35	2977	c.2929G>A	c.(2929-2931)Gtc>Atc	p.V977I	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V977I|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V977I|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V883I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	977						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.V977I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCCAGCATTCGTCTCTGAGCG	0.488000													10	19					0	0	0.080935	0	0
FOXF1	2294	broad.mit.edu	37	16	86545073	86545073	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr16:86545073C>A	ENST00000262426.4	+	1	941	c.898C>A	c.(898-900)Ctg>Atg	p.L300M		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	300					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.L275M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCCAACCCCCTGTCCGGCAG	0.706000													9	5					6.31663e-08	6.58831e-08	0.132662	1	0
GDI2	2665	broad.mit.edu	37	10	5827911	5827911	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr10:5827911T>C	ENST00000380191.4	-	5	781	c.491A>G	c.(490-492)aAg>aGg	p.K164R	GDI2_ENST00000380132.4_Missense_Mutation_p.K168R|GDI2_ENST00000380181.3_Missense_Mutation_p.K119R	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	164					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	p.K164R(1)		NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGTGGTCTTCTTAGGATCAAT	0.373000													91	132					0	0	0.139131	0	0
DLG2	1740	broad.mit.edu	37	11	84027997	84027997	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:84027997G>A	ENST00000280241.8	-	1	191	c.192C>T	c.(190-192)acC>acT	p.T64T	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Silent_p.T64T|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.T64T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGGACCCCCCGGTCCTGTTTG	0.607000													48	127					0	0	0.139131	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051323	38051323	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr4:38051323G>A	ENST00000261439.4	+	11	2069	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	TBC1D1_ENST00000508802.1_Missense_Mutation_p.D572N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	572						nucleus	Rab GTPase activator activity	p.D572N(3)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCTGTCCAGTGACTCGGAGAG	0.592000													46	93					0	0	0.139131	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr15:31851205C>G	ENST00000382902.1	-	3	609	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	OTUD7A_ENST00000307050.4_Missense_Mutation_p.E173Q			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	173	TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.E173Q(1)|p.E173K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572000													15	14					0	0	0.146539	0	0
MZF1	7593	broad.mit.edu	37	19	59082675	59082675	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:59082675C>G	ENST00000215057.2	-	2	642	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594108.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594234.1_Missense_Mutation_p.E28Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	28					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.E28Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CCCTCCTCCTCAGAGTCCTCT	0.642000													36	52					0	0	0.080422	0	0
MAP3K1	4214	broad.mit.edu	37	5	56177956	56177956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr5:56177956C>T	ENST00000399503.3	+	14	2929	c.2929C>T	c.(2929-2931)Caa>Taa	p.Q977*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	977					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Q814*(1)|p.Q977*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCATCATTCCCAATTAATGTT	0.443000													44	34					0	0	0.117977	0	0
TMC8	147138	broad.mit.edu	37	17	76136924	76136924	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:76136924G>A	ENST00000318430.5	+	16	2286	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.E415K	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	638						endoplasmic reticulum membrane|integral to membrane		p.E638K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCAGGTTCAGGAGAAGTGGCA	0.672000													11	6					0	0	0.069234	0	0
FOXRED2	80020	broad.mit.edu	37	22	36889755	36889755	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr22:36889755G>A	ENST00000397224.4	-	8	1813	c.1720C>T	c.(1720-1722)Ccg>Tcg	p.P574S	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P574S|FOXRED2_ENST00000366463.3_Missense_Mutation_p.P126S|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P574S	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	574					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.P574S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGCCCGATCGGGGCAGTCCAG	0.562000													10	37					0	0	0.175082	0	0
APCDD1	147495	broad.mit.edu	37	18	10471657	10471657	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr18:10471657C>T	ENST00000355285.5	+	3	727	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	APCDD1_ENST00000578882.1_Missense_Mutation_p.R125W	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	p.R125W(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCTCATCATCCGGGGCAAGAT	0.547000													21	92					0	0	0.062417	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662771	57662771	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:57662771C>G	ENST00000402412.1	-	17	2199	c.1809G>C	c.(1807-1809)caG>caC	p.Q603H	R3HDM2_ENST00000413953.2_Missense_Mutation_p.Q316H|R3HDM2_ENST00000403821.2_Missense_Mutation_p.Q623H|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.Q589H|R3HDM2_ENST00000441731.2_Missense_Mutation_p.Q284H|R3HDM2_ENST00000358907.2_Missense_Mutation_p.Q589H			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	589	Gln-rich.					nucleus	nucleic acid binding	p.Q589H(1)|p.Q250H(1)		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						TGCTGCTCCTCTGGCTGCTGA	0.582000													65	62					0	0	0.139131	0	0
CD99L2	83692	broad.mit.edu	37	X	149963917	149963917	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:149963917G>T	ENST00000370377.3	-	5	437	c.320C>A	c.(319-321)aCc>aAc	p.T107N	CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.T58N	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	107					cell adhesion	cell junction|integral to membrane		p.T107N(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCTGGTGGTTACTGGCCT	0.517000													44	193					9.52127e-25	1.05349e-24	0.139131	1	0
RNF141	50862	broad.mit.edu	37	11	10536558	10536558	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr11:10536558C>T	ENST00000265981.2	-	6	740	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	200							zinc ion binding	p.E200K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		ACCCAAGATTCATTTGCTCCA	0.438000													35	47					0	0	0.214465	0	0
CD22	933	broad.mit.edu	37	19	35828735	35828735	+	Missense_Mutation	SNP	G	G	A	rs138631884		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:35828735G>A	ENST00000085219.5	+	5	862	c.796G>A	c.(796-798)Gag>Aag	p.E266K	CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.E266K|CD22_ENST00000270311.6_Missense_Mutation_p.E146K|CD22_ENST00000536635.2_Missense_Mutation_p.E266K|CD22_ENST00000419549.2_Missense_Mutation_p.E94K|CD22_ENST00000594250.1_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	266	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding	p.E266K(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CATGACCTGCGAGGTCAGCAG	0.577000													28	49					0	0	0.116897	0	0
OR6C76	390326	broad.mit.edu	37	12	55820919	55820919	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr12:55820919G>A	ENST00000328314.3	+	1	882	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V294V(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACCAGCAGGTGAAACAAGCAT	0.348000													12	25					0	0	0.093190	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121946	90121946	+	RNA	SNP	T	T	C			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:90121946T>C	ENST00000483379.1	+	0	345																											AGCAATTATTTAGCCTGGTTT	0.512000													123	1					0	0	0.139131	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	18					0	0	0.184627	0	0
GPR179	440435	broad.mit.edu	37	17	36482906	36482906	+	Silent	SNP	G	G	A			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr17:36482906G>A	ENST00000342292.4	-	11	6566	c.6546C>T	c.(6544-6546)gtC>gtT	p.V2182V	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2182						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V2182V(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCCAGGGCAGACTGCCTCCT	0.592000													35	116					0	0	0.163468	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973758	29973758	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:29973758C>T	ENST00000378993.1	+	11	2585	c.1912C>T	c.(1912-1914)Ctg>Ttg	p.L638L	IL1RAPL1_ENST00000302196.4_Silent_p.L638L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	638	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.L638L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TACCGGCACCCTGCCTCTTAC	0.502000													15	31					0	0	0.160694	0	0
KMT2C	58508	broad.mit.edu	37	7	151962186	151962186	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr7:151962186G>T	ENST00000355193.2	-	8	1339	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	KMT2C_ENST00000262189.6_Missense_Mutation_p.A374E					lysine (K)-specific methyltransferase 2C									p.A374E(2)									TGGAGTAACCGCTATATCCAG	0.453000													17	481					3.62473e-10	3.89224e-10	0.062417	1	0
NPHP3	27031	broad.mit.edu	37	3	132407701	132407701	+	Missense_Mutation	SNP	C	C	T	rs119456963		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:132407701C>T	ENST00000337331.5	-	21	3004	c.2918G>A	c.(2917-2919)cGa>cAa	p.R973Q	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	973			R -> Q (in RHPD).		maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.R973Q(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGTTTCTCGAATCTCTAA	0.473000													33	70					0	0	0.163468	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131904340	131904340	+	Silent	SNP	C	C	T			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:131904340C>T	ENST00000403716.1	+	8	1223	c.663C>T	c.(661-663)gtC>gtT	p.V221V	PLEKHB2_ENST00000409612.1_Silent_p.V221V|PLEKHB2_ENST00000538982.1_Silent_p.V173V|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000234115.6_Silent_p.V220V|PLEKHB2_ENST00000409279.1_Silent_p.V221V|PLEKHB2_ENST00000439822.2_3'UTR|PLEKHB2_ENST00000438882.2_3'UTR|PLEKHB2_ENST00000409158.1_Silent_p.V229V|PLEKHB2_ENST00000303908.3_Intron	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	221						membrane	protein binding	p.V220V(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TATTTTGGGTCTTCTAGGGGC	0.488000													51	84					0	0	0.139131	0	0
FIGN	55137	broad.mit.edu	37	2	164466194	164466201	+	Frame_Shift_Del	DEL	AATGGCTG	AATGGCTG	-			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr2:164466194_164466201delAATGGCTG	ENST00000333129.3	-	3	2455_2462	c.2141_2148delCAGCCATT	c.(2140-2148)tcagccattfs	p.SAI714fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	714						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GGCTGGGCATAATGGCTGAAAGGTCTGT	0.495													35	5	---	---	---	---					
CSPG5	10675	broad.mit.edu	37	3	47619021	47619040	+	Frame_Shift_Del	DEL	AGAAGCTGGGCTCAGCTTGT	AGAAGCTGGGCTCAGCTTGT	-	rs35863063	byFrequency	TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr3:47619021_47619040delAGAAGCTGGGCTCAGCTTGT	ENST00000383738.2	-	2	2574_2593	c.476_495delACAAGCTGAGCCCAGCTTCT	c.(475-495)gacaagctgagcccagcttctfs	p.DKLSPAS159fs	CSPG5_ENST00000456150.1_Frame_Shift_Del_p.DKLSPAS21fs|CSPG5_ENST00000264723.4_Frame_Shift_Del_p.DKLSPAS159fs	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	159					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGGGGAGTTCAGAAGCTGGGCTCAGCTTGTCGCCGGGGGT	0.659													22	28	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs72369323		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr6:43970504_43970509delGCGGCG	ENST00000336600.5	+	4	390_395	c.370_375delGCGGCG	c.(370-375)gcggcgdel	p.AA130del	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000442114.2_In_Frame_Del_p.AA110del|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													4	6	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													2	4	---	---	---	---					
LOC646938	646938	broad.mit.edu	37	15	79045474	79045474	+	RNA	DEL	T	T	-			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr15:79045474delT	ENST00000434914.1	+	0	151					NR_036495.1																						CAGTATCTCCTTTGGGGACCT	0.612													2	4	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	RNA	DEL	T	T	-	rs113703393		TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													2	4	---	---	---	---					
MAGEB4	4115	broad.mit.edu	37	X	30260833	30260833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C4-A0EZ-01A-21D-A10S-08	TCGA-C4-A0EZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01a7081-8eb5-4728-a517-52156cdfe7ed	8be7e7a6-5f89-4f61-aaf5-0e8609f17124	g.chrX:30260833delC	ENST00000378982.2	+	1	777	c.581delC	c.(580-582)accfs	p.T194fs		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	194	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGTGCCTGGACCCTTCCAAGG	0.522													16	64	---	---	---	---					
