Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CHD4	1108	broad.mit.edu	37	12	6702774	6702774	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:6702774G>A	uc001qpo.3	-	15	2486	c.2322C>T	c.(2320-2322)tcC>tcT	p.S774S	CHD4_uc001qpn.3_Silent_p.S767S|CHD4_uc001qpp.3_Silent_p.S771S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	774	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AGGGGCCTTTGGAATGACCCT	0.557000														53			25		0	0	0.004656	0	0
BAHD1	22893	broad.mit.edu	37	15	40758311	40758311	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:40758311C>T	uc001zlu.2	+	6	2396	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	BAHD1_uc001zlt.2_Silent_p.I774I|BAHD1_uc010bbp.1_Silent_p.I771I|BAHD1_uc001zlv.2_Silent_p.I772I	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	775	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACGGGCGCATCCTTAAGAACC	0.617000														77			38		0	0	0.006230	0	0
abParts	0	broad.mit.edu	37	14	106610537	106610537	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:106610537C>T	uc021ser.1	-	1671		c.32034G>A								Parts of antibodies, mostly variable regions.																		AAAGTGAATCCAGAGGCTGCA	0.582000														75			50		0	0	0.003610	0	0
KRT76	51350	broad.mit.edu	37	12	53170560	53170560	+	Silent	SNP	G	A	A	rs146014128		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:53170560G>A	uc001sax.3	-	0	570	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	172	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTGGGGGTCGATCTCCACAT	0.557000														41			27		0	0	0.009535	0	0
BRF2	55290	broad.mit.edu	37	8	37704431	37704431	+	Silent	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:37704431G>T	uc003xkk.3	-	2	607	c.477C>A	c.(475-477)ctC>ctA	p.L159L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	159					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCAGTCCCAGGAGCTTCACTA	0.532000														65			197		1.47202e-86	1.62089e-86	0.003610	1	0
ZNF559	84527	broad.mit.edu	37	19	9452399	9452399	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9452399T>A	uc002mle.4	+	5	871	c.464T>A	c.(463-465)tTt>tAt	p.F155Y	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.F49Y|ZNF559_uc010xkn.2_Missense_Mutation_p.F83Y|ZNF559_uc021uok.1_Missense_Mutation_p.F91Y|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GAGGAACTGTTTGACTTTAAC	0.353000														34			17		0	0	0.007413	0	0
PKP1	5317	broad.mit.edu	37	1	201263089	201263089	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:201263089G>A	uc001gwd.3	+	1	473	c.222G>A	c.(220-222)ttG>ttA	p.L74L	PKP1_uc001gwe.3_Silent_p.L74L|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	74					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ATGATGGCTTGGCTGACAATT	0.522000														19			8		0	0	0.008291	0	0
VGLL4	9686	broad.mit.edu	37	3	11643403	11643404	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:11643403_11643404GG>AA	uc010hdx.1	-	1	581_582	c.175_176CC>TT	c.(175-177)ccc>TTc	p.P59F	VGLL4_uc003bwf.2_Missense_Mutation_p.P53F|VGLL4_uc003bwg.2_Missense_Mutation_p.P58F|VGLL4_uc011aun.1_5'UTR	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CCTCTTGCTGGGGCTGATTGGG	0.599000														53			31		0	0	0.004672	0	0
NDUFAB1	4706	broad.mit.edu	37	16	23598636	23598636	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:23598636G>A	uc002dlw.3	-	1	201	c.173C>T	c.(172-174)cCt>cTt	p.P58L		NM_005003	NP_004994	O14561	ACPM_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa (NDUFAB1), nuclear gene encoding mitochondrial protein, mRNA.	58					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|phosphopantetheine binding			endometrium(1)|large_intestine(1)|lung(1)	3				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	AACTCTACCAGGAACCTAGAG	0.463000														23			9		0	0	0.004482	0	0
GRWD1	83743	broad.mit.edu	37	19	48956137	48956137	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:48956137G>A	uc002pjd.2	+	6	1429	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	399						nucleolus		p.P398P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCCGACCCCGGACTGGCCGAC	0.697000														36			17		0	0	0.004007	0	0
NF1	4763	broad.mit.edu	37	17	29509639	29509639	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:29509639C>T	uc002hgg.3	+	7	1227	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	NF1_uc002hge.2_Nonsense_Mutation_p.Q282*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q282*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q282*|NF1_uc010csn.2_Nonsense_Mutation_p.Q142*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	282					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.Q282Q(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAATAATCCAGGATATATC	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				18			10		0	0	0.006214	0	0
SNX19	399979	broad.mit.edu	37	11	130781576	130781576	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:130781576G>A	uc001qgk.4	-	1	2313	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Silent_p.L32L|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Silent_p.L589L|SNX19_uc009zcx.1_Non-coding_Transcript	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	589	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGGGTCTGCAGATTCAAGAAC	0.552000														12			33		0	0	0.002836	0	0
CACNB4	785	broad.mit.edu	37	2	152698471	152698471	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:152698471C>T	uc002tya.3	-	12	1316	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	CACNB4_uc002txy.3_Silent_p.R382R|CACNB4_uc002txz.3_Silent_p.R398R|CACNB4_uc010fnz.3_Intron	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	416					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	AGCCCAAATTCCTTCCCAGCA	0.502000														82			36		0	0	0.010771	0	0
ST13	6767	broad.mit.edu	37	22	41244318	41244318	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:41244318G>A	uc003aze.3	-	2	367	c.224C>T	c.(223-225)tCa>tTa	p.S75L	ST13_uc011aow.2_Missense_Mutation_p.S65L	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	75							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTCCTCACTTGATGGTTCGTC	0.348000														30			13		0	0	0.003163	0	0
RABL3	285282	broad.mit.edu	37	3	120424951	120424951	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:120424951G>A	uc003edx.3	-	3	309	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	93	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AGTCGTGTACGAAAATAATAC	0.378000														30			19		0	0	0.010504	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974915	79974915	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:79974915C>T	uc002kcy.3	+	15	1953	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	ASPSCR1_uc002kcx.3_Missense_Mutation_p.P525L|ASPSCR1_uc021ufj.1_Missense_Mutation_p.P448L|ASPSCR1_uc002kda.3_Missense_Mutation_p.P473L	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	525							protein binding		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)			CTGGTCCCCCCTGAGCCCATC	0.692000			T	TFE3	alveolar soft part sarcoma									16			12		0	0	0.004007	0	0
GPX6	257202	broad.mit.edu	37	6	28472125	28472125	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:28472125C>T	uc021yrx.1	-	4	660	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	204					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTGTGCTGACTGGAGCCTGG	0.522000														53			49		0	0	0.003610	0	0
GUCY2C	2984	broad.mit.edu	37	12	14829847	14829847	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:14829847G>A	uc001rcd.3	-	6	1026	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	GUCY2C_uc009zhz.2_Silent_p.L297L	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	297					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GACAGCGTCAGAACAAGGACA	0.348000														31			15		0	0	0.004990	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868209	20868209	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:20868209T>C	uc010sii.2	+	6	1021	c.666T>C	c.(664-666)gcT>gcC	p.A222A	SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Silent_p.A56A|SLCO1C1_uc001rei.3_Silent_p.A222A|SLCO1C1_uc010sik.2_Silent_p.A104A	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	222					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ACAATGCAGCTTTCTATATTG	0.423000														42			18		0	0	0.006122	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008109	41008109	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:41008109G>A	uc002ony.3	+	8	1058	c.972G>A	c.(970-972)tgG>tgA	p.W324*	SPTBN4_uc002onx.3_Nonsense_Mutation_p.W324*|SPTBN4_uc002onz.3_Nonsense_Mutation_p.W324*	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	324					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTGGCCTGGATCCACCGCA	0.582000														50			42		0	0	0.013114	0	0
C10orf140	387640	broad.mit.edu	37	10	21804515	21804516	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:21804515_21804516GG>AA	uc009xkd.3	-	3	4489_4490	c.2236_2237CC>TT	c.(2236-2238)cct>TTt	p.P746F	AK055656_uc001iqp.1_Intron|C10orf140_uc021pnx.1_Missense_Mutation_p.P746F	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	665						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						ATTTAAGGAAGGAGTTTCTTTT	0.446000														130			81		0	0	0.004672	0	0
MYO15A	51168	broad.mit.edu	37	17	18023051	18023051	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:18023051G>A	uc021trm.1	+	0	1156	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	MYO15A_uc021trl.1_Missense_Mutation_p.E313K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	313	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.E313K(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACGATTACGAACCCCCATA	0.612000														46			23		0	0	0.002780	0	0
PDGFRB	5159	broad.mit.edu	37	5	149498406	149498406	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:149498406G>A	uc003lro.3	-	20	3277	c.2808C>T	c.(2806-2808)atC>atT	p.I936I	PDGFRB_uc010jhd.3_Silent_p.I775I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	936	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTCTGCATGATCTCATAGC	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									54			22		0	0	0.012319	0	0
MPRIP	23164	broad.mit.edu	37	17	17062245	17062245	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:17062245G>A	uc002gqv.2	+	13	2064	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	MPRIP_uc002gqu.2_Missense_Mutation_p.V659I|MPRIP_uc002gqw.2_Missense_Mutation_p.V414I	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	659	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CATCGCCCCCGTCCACCTGTC	0.602000														18			9		0	0	0.006214	0	0
KNDC1	85442	broad.mit.edu	37	10	134999848	134999848	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:134999848C>T	uc001llz.1	+	5	997	c.996C>T	c.(994-996)ccC>ccT	p.P332P	KNDC1_uc001lma.1_Silent_p.P267P	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	332					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCAGCTGCCCATATCGGAAT	0.622000														23			6		0	0	0.003080	0	0
ZNF267	10308	broad.mit.edu	37	16	31926233	31926233	+	Silent	SNP	T	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:31926233T>G	uc002ecs.4	+	3	872	c.663T>G	c.(661-663)tcT>tcG	p.S221S		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	221					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GCAATAATTCTGAAAAAACCT	0.289000														13			9		0	0	0.006214	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007017	32007017	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32007017T>C	uc003nze.2	+	2	546	c.439T>C	c.(439-441)Ttc>Ctc	p.F147L	CYP21A2_uc003nzf.2_Missense_Mutation_p.F117L	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	146					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GACCCAGGAGTTCTGTGAGGT	0.657000														247			70		0	0	0.003610	0	0
ABCA2	20	broad.mit.edu	37	9	139915193	139915193	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:139915193G>A	uc004ckm.1	-	8	1355	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ABCA2_uc022bpy.1_Silent_p.F336F|ABCA2_uc022bpz.1_Silent_p.F406F|ABCA2_uc011mem.1_Silent_p.F405F|ABCA2_uc004ckl.1_Silent_p.F336F|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Silent_p.F182F|ABCA2_uc010nca.3_Silent_p.F336F	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	405					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			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)		AGAGCTGTACGAAGGCTGAGC	0.697000														1			7		0	0	0.004482	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748789	43748789	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:43748789G>A	uc001zrs.3	-	11	2150	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	TP53BP1_uc010udp.2_Missense_Mutation_p.P668S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P673S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P673S|TP53BP1_uc010udq.1_Missense_Mutation_p.P673S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	668					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		GGTGTCTCAGGGATTTCTTCC	0.458000								Other conserved DNA damage response genes						54			40		0	0	0.006999	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41033239	41033239	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:41033239G>A	uc003jmj.4	-	22	2755	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	HEATR7B2_uc003jmi.4_Silent_p.F310F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	755							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGCTTCTTGTGAAACTCATTT	0.433000														24			13		0	0	0.002450	0	0
DNAH8	1769	broad.mit.edu	37	6	38771046	38771046	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:38771046T>C	uc021yzh.1	+	21	3102	c.2993T>C	c.(2992-2994)aTt>aCt	p.I998T	DNAH8_uc003ooe.2_Missense_Mutation_p.I781T	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAGCAGATTTATGAAGTG	0.343000														39			11		0	0	0.008291	0	0
DMXL2	23312	broad.mit.edu	37	15	51829948	51829948	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:51829948G>A	uc010ufy.2	-	10	1579	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	DMXL2_uc002abf.3_Silent_p.L452L|DMXL2_uc010bfa.3_Silent_p.L452L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	452						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.L452L(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)		TCTCTATCCAGGGATAAATCT	0.333000														23			7		0	0	0.003080	0	0
HSF1	3297	broad.mit.edu	37	8	145535748	145535748	+	Silent	SNP	C	T	T	rs143898779		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145535748C>T	uc003zbt.4	+	8	1130	c.960C>T	c.(958-960)tcC>tcT	p.S320S	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	320						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GCCCATCTTCCGTGGACACCC	0.711000														15			34		0	0	0.006230	0	0
TRPM7	54822	broad.mit.edu	37	15	50905939	50905939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:50905939G>A	uc001zyt.4	-	14	2017	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y	TRPM7_uc010bew.2_Missense_Mutation_p.H579Y|TRPM7_uc001zyu.3_Missense_Mutation_p.H137Y	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	579					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTAATGAAATGGTTATGCCTC	0.363000														7			8		0	0	0.003080	0	0
RYR1	6261	broad.mit.edu	37	19	39051930	39051930	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:39051930C>T	uc002oit.3	+	89	12590	c.12460C>T	c.(12460-12462)Ccg>Tcg	p.P4154S	RYR1_uc002oiu.3_Missense_Mutation_p.P4149S|RYR1_uc002oiv.1_Missense_Mutation_p.P1063S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4154					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P4154P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGCATGTGCCGCATGACCC	0.617000														37			24		0	0	0.003330	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745900	96745900	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:96745900G>A	uc001kka.4	+	7	1285	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K	CYP2C9_uc009xut.3_Silent_p.K418K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	420					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCAATTTTAAGAAAAGTAAAT	0.348000														32			27		0	0	0.004656	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584678	72584678	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72584678C>T	uc002jkz.2	-	1	380	c.351G>A	c.(349-351)ggG>ggA	p.G117G	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	117	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GAACTTTGACCCCAAGATCAA	0.483000														107			28		0	0	0.010818	0	0
CCDC88C	440193	broad.mit.edu	37	14	91772235	91772235	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:91772235C>T	uc010aty.3	-	18	3385	c.3231G>A	c.(3229-3231)aaG>aaA	p.K1077K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1077					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCAGCTGTTCCTTTAGCAGCT	0.537000														26			12		0	0	0.001855	0	0
NLRP5	126206	broad.mit.edu	37	19	56520162	56520162	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56520162C>T	uc002qmj.3	+	2	451	c.451C>T	c.(451-453)Cca>Tca	p.P151S	NLRP5_uc002qmi.3_Missense_Mutation_p.P151S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	151						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGGACATTCACCAGAAGATCC	0.463000														10			10		0	0	0.010729	0	0
HCN3	57657	broad.mit.edu	37	1	155257071	155257071	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:155257071T>C	uc001fjz.1	+	6	1593	c.1585T>C	c.(1585-1587)Ttc>Ctc	p.F529L	HCN3_uc010pfz.1_Missense_Mutation_p.F224L	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	529						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTTGAGGAGTTCCCCATGAT	0.607000														79			22		0	0	0.003330	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	181635	181635	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:181635G>A	uc003jak.2	+	16	3391	c.3341G>A	c.(3340-3342)aGa>aAa	p.R1114K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1114					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TTAGAACTCAGAATCCAAGAA	0.532000														41			21		0	0	0.002780	0	0
GPR126	57211	broad.mit.edu	37	6	142725021	142725021	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:142725021G>A	uc010khe.3	+	13	2449	c.2038G>A	c.(2038-2040)Gct>Act	p.A680T	GPR126_uc010khc.3_Missense_Mutation_p.A680T|GPR126_uc010khd.3_Missense_Mutation_p.A652T|GPR126_uc010khf.3_Missense_Mutation_p.A652T	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A680P(1)|p.A651P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCGGAACTTGGCTCTCAGCGT	0.368000														19			21		0	0	0.010504	0	0
C1orf106	55765	broad.mit.edu	37	1	200868618	200868618	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:200868618T>A	uc001gvo.3	+	2	370	c.328T>A	c.(328-330)Tcc>Acc	p.S110T	C1orf106_uc010ppm.2_Missense_Mutation_p.S25T	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	110										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CAGCCCGGTCTCCCCAATGAA	0.627000														28			55		0	0	0.003610	0	0
C17orf49	124944	broad.mit.edu	37	17	6920597	6920597	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:6920597G>A	uc002ged.3	+	5	1249	c.536G>A	c.(535-537)gGc>gAc	p.G179D	C17orf49_uc002gec.3_3'UTR|C17orf49_uc010vti.2_3'UTR|MIR497HG_uc021tox.1_Non-coding_Transcript	NM_001142798	NP_001136270	Q8IXM2	BAP18_HUMAN	Homo sapiens chromosome 17 open reading frame 49 (C17orf49), transcript variant 1, mRNA.	0					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						CTGGATTCTGGCCTTCTCATG	0.582000														78			51		0	0	0.003610	0	0
GRIA1	2890	broad.mit.edu	37	5	153085278	153085278	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:153085278C>T	uc011dcy.2	+	10	1531	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S	GRIA1_uc003lva.4_Missense_Mutation_p.P492S|GRIA1_uc003luy.4_Missense_Mutation_p.P492S|GRIA1_uc003luz.4_Missense_Mutation_p.P397S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P412S|GRIA1_uc011dcx.2_Missense_Mutation_p.P423S|GRIA1_uc011dcz.2_Missense_Mutation_p.P502S|GRIA1_uc010jia.1_Missense_Mutation_p.P472S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	492					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCTGTGGCTCCCTTAACTAT	0.358000														20			12		0	0	0.010729	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555887	125555887	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:125555887C>T	uc010flu.3	+	18	3571	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	CNTNAP5_uc002tno.3_Silent_p.L1068L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1068	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGTTCTGCTCTGCAAGAATG	0.498000														20			12		0	0	0.010729	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140264094	140264094	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140264094T>C	uc003lif.2	+	0	2241	c.2241T>C	c.(2239-2241)agT>agC	p.S747S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S747S|PCDHAC2_uc003lid.3_Silent_p.S747S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	784					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCAGGGAGTTGGTCGTACT	0.682000														41			19		0	0	0.008871	0	0
C3orf30	152405	broad.mit.edu	37	3	118865748	118865748	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:118865748C>T	uc003ecb.1	+	0	752	c.712C>T	c.(712-714)Cct>Tct	p.P238S	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.P238S	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	238								p.S237R(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGACCAAAGTCCTTCTGTACA	0.458000														52			31		0	0	0.012213	0	0
ATIC	471	broad.mit.edu	37	2	216197195	216197195	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:216197195C>T	uc002vex.4	+	7	966	c.779C>T	c.(778-780)cCa>cTa	p.P260L	ATIC_uc010zjo.2_Missense_Mutation_p.P201L|ATIC_uc002vey.4_Missense_Mutation_p.P259L	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	260					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TTAGGTATTCCAGCCGCTGCC	0.443000			T	ALK	ALCL									30			17		0	0	0.006122	0	0
IGSF1	3547	broad.mit.edu	37	X	130412036	130412036	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:130412036C>T	uc004ewe.4	-	12	2412	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	IGSF1_uc004ewd.3_Missense_Mutation_p.G705E|IGSF1_uc022cdv.1_Missense_Mutation_p.G696E|IGSF1_uc004ewf.2_Missense_Mutation_p.G685E	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	705	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGCCAGCCATCCTTTGCACCG	0.517000														13			73		0	0	0.003610	0	0
CCR9	10803	broad.mit.edu	37	3	45943373	45943374	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:45943373_45943374GG>AA	uc003coz.2	+	2	1273_1274	c.1093_1094GG>AA	c.(1093-1095)gga>AAa	p.G365K	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.G353K|CCR9_uc003cpa.2_Missense_Mutation_p.G353K|CCR9_uc021wwv.1_Missense_Mutation_p.G353K	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	365					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GACAACCTCAGGAGCACTCTCC	0.500000														28			14		0	0	0.004672	0	0
CATSPERB	79820	broad.mit.edu	37	14	92047331	92047331	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:92047331G>A	uc001xzs.1	-	26	3393	c.3253C>T	c.(3253-3255)Ccg>Tcg	p.P1085S	CATSPERB_uc010aub.1_Missense_Mutation_p.P607S	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	1085					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTCCTCCACGGATGGATGCCT	0.428000														51			19		0	0	0.007413	0	0
ECE2	9718	broad.mit.edu	37	3	184008850	184008850	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:184008850G>A	uc003fni.4	+	16	2249	c.2211G>A	c.(2209-2211)ggG>ggA	p.G737G	ECE2_uc011brh.1_Silent_p.G590G|ECE2_uc003fnl.4_Silent_p.G665G|ECE2_uc003fnm.4_Silent_p.G619G|ECE2_uc003fnk.4_Silent_p.G590G|ECE2_uc011bri.1_Silent_p.G652G|ECE2_uc010hxv.3_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	737	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAAAGAAGGGAACCTGCGGC	0.597000														59			15		0	0	0.004007	0	0
SACS	26278	broad.mit.edu	37	13	23912516	23912516	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:23912516G>A	uc001uon.2	-	9	6088	c.5499C>T	c.(5497-5499)tcC>tcT	p.S1833S	SACS_uc001uoo.2_Silent_p.S1686S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1833					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.S1686S(1)|p.S1833S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTCACTCAGGGAAAACTTCA	0.478000														31			38		0	0	0.006999	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940574	21940574	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:21940574G>A	uc001bev.3	-	4	318	c.300C>T	c.(298-300)ttC>ttT	p.F100F	RAP1GAP_uc001bew.3_Silent_p.F164F|RAP1GAP_uc001bey.3_Silent_p.F100F|RAP1GAP_uc001bex.3_Silent_p.F100F	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	100					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGTAGTAATTGAAATGCTCCT	0.587000														11			3		0	0	0.004672	0	0
XPC	7508	broad.mit.edu	37	3	14199529	14199529	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:14199529C>T	uc011ave.2	-	8	1958	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	XPC_uc011avf.2_Silent_p.E425E|XPC_uc011avg.2_Silent_p.E581E|XPC_uc021wtl.1_Intron|XPC_uc021wtm.1_Silent_p.E106E	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	618	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCTTTCTTCTCCCTGTCCA	0.512000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					149			18		0	0	0.010504	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476769	52476769	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:52476769G>A	uc003dea.1	-	1	270	c.270C>T	c.(268-270)ccC>ccT	p.P90P		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	90	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCACCTCCCGGGGATCTGGCC	0.617000														22			15		0	0	0.006122	0	0
KLHL22	84861	broad.mit.edu	37	22	20825682	20825682	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:20825682G>A	uc002zsl.2	-	2	505	c.348C>T	c.(346-348)agC>agT	p.S116S	KLHL22_uc011ahr.2_Intron	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	116	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CATTGCTCAGGCTGAGCTCCA	0.537000														43			33		0	0	0.010818	0	0
DNAH17	8632	broad.mit.edu	37	17	76455098	76455098	+	Silent	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76455098G>T	uc010dhp.2	-	60	9971	c.9846C>A	c.(9844-9846)atC>atA	p.I3282I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGTTTTTGATCCGGGACA	0.582000														72			23		7.87624e-14	8.59494e-14	0.002780	1	0
PCLO	27445	broad.mit.edu	37	7	82584810	82584810	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82584810C>T	uc003uhx.2	-	4	5748	c.5459G>A	c.(5458-5460)aGg>aAg	p.R1820K	PCLO_uc003uhv.2_Missense_Mutation_p.R1820K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1751					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCCTTTCCCTTCTTCTCTG	0.428000														169			136		0	0	0.003610	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193724	193724	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:193724G>A	uc001loa.1	+	1	88	c.68G>A	c.(67-69)gGg>gAg	p.G23E		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	23						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGGCCACAGGGGAGGACAAC	0.582000														35			9		0	0	0.004482	0	0
CD207	50489	broad.mit.edu	37	2	71058882	71058882	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:71058882C>T	uc002shg.3	-	4	833	c.786G>A	c.(784-786)ggG>ggA	p.G262G		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	262	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AGGACCAGTCCCCTTCCATCC	0.567000														61			34		0	0	0.006999	0	0
C12orf56	115749	broad.mit.edu	37	12	64664335	64664335	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:64664335T>C	uc021qzu.1	-	11	1744	c.1744A>G	c.(1744-1746)Aac>Gac	p.N582D	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.N422D|C12orf56_uc001srz.3_Missense_Mutation_p.N64D|C12orf56_uc001sry.3_Missense_Mutation_p.N164D	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	585										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCTCTGTAGTTATTCCTAATA	0.418000														6			5		0	0	0.001168	0	0
ESRRG	2104	broad.mit.edu	37	1	216692670	216692670	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:216692670G>A	uc001hkw.2	-	5	1129	c.956C>T	c.(955-957)tCg>tTg	p.S319L	ESRRG_uc009xdp.1_Missense_Mutation_p.S296L|ESRRG_uc001hky.1_Missense_Mutation_p.S296L|ESRRG_uc001hkz.2_Missense_Mutation_p.S257L|ESRRG_uc010puc.2_Missense_Mutation_p.S296L|ESRRG_uc001hla.2_Missense_Mutation_p.S296L|ESRRG_uc001hlb.2_Missense_Mutation_p.S296L|ESRRG_uc010pud.2_Missense_Mutation_p.S134L|ESRRG_uc021pja.1_Missense_Mutation_p.S68L|ESRRG_uc001hlc.1_Missense_Mutation_p.S296L|ESRRG_uc001hld.1_Missense_Mutation_p.S296L|ESRRG_uc001hkx.2_Missense_Mutation_p.S331L|ESRRG_uc009xdo.2_Missense_Mutation_p.S296L|ESRRG_uc001hle.2_Missense_Mutation_p.S296L|ESRRG_uc021piz.1_Missense_Mutation_p.S296L	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	319					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCCTCAAACGAAAGAGACCG	0.473000														68			18		0	0	0.004990	0	0
ODZ3	55714	broad.mit.edu	37	4	183676209	183676209	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:183676209C>T	uc003ivd.1	+	20	4764	c.4689C>T	c.(4687-4689)acC>acT	p.T1563T	ODZ3_uc003ive.1_Silent_p.T976T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1563					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGGCAACACCCTTAGAATTA	0.398000														21			16		0	0	0.006122	0	0
POM121L12	285877	broad.mit.edu	37	7	53103599	53103599	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:53103599G>A	uc003tpz.3	+	0	251	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	79								p.E79K(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCACCTCATCGAGGTGCGGCC	0.711000														33			26		0	0	0.003954	0	0
NDUFA10	4705	broad.mit.edu	37	2	240929547	240929547	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:240929547G>A	uc010fzc.2	-	9	1134	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S	NDUFA10_uc002vyn.3_Missense_Mutation_p.P315S	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	315					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	p.T345T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GTGACTTCCGGGAGAAAGATA	0.428000														52			23		0	0	0.003330	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871822	51871822	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:51871822G>A	uc002xwo.3	+	1	2712	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TSHZ2_uc021wex.1_Missense_Mutation_p.E606K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	609					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACAAAGATGAAGCGGTGAA	0.507000														81			28		0	0	0.004656	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324197	61324197	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:61324197C>T	uc002lji.3	-	6	780	c.636G>A	c.(634-636)atG>atA	p.M212I	SERPINB3_uc002ljg.3_Missense_Mutation_p.M212I|SERPINB3_uc010dqa.3_Intron	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	212					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATTGCCTCATCATCTGTATGG	0.373000														16			10		0	0	0.010729	0	0
CORIN	10699	broad.mit.edu	37	4	47625718	47625718	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:47625718C>T	uc003gxm.3	-	18	2503	c.2410G>A	c.(2410-2412)Gga>Aga	p.G804R	CORIN_uc011bzf.2_Missense_Mutation_p.G665R|CORIN_uc011bzg.2_Missense_Mutation_p.G737R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	804	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTCCGACCTCCAAGGATCCTT	0.542000														45			29		0	0	0.009535	0	0
ARID2	196528	broad.mit.edu	37	12	46245027	46245027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:46245027C>T	uc001ros.1	+	14	3121	c.3121C>T	c.(3121-3123)Caa>Taa	p.Q1041*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q1041*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q497*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q668*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q375*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1041	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GATGCAAGTTCAACCTCAACA	0.512000			"""N, S, F"""		hepatocellular carcinoma									48			36		0	0	0.006999	0	0
PRRC2C	23215	broad.mit.edu	37	1	171501485	171501485	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:171501485C>T	uc010pmg.2	+	11	1518	c.1252C>T	c.(1252-1254)Cca>Tca	p.P418S	PRRC2C_uc001ghr.1_Missense_Mutation_p.P420S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	418							protein C-terminus binding										GTTTCAGCATCCACCTCCAGA	0.448000														31			9		0	0	0.008291	0	0
SPICE1	152185	broad.mit.edu	37	3	113212092	113212092	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:113212092G>C	uc003eag.4	-	5	744	c.453C>G	c.(451-453)atC>atG	p.I151M	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.I47M	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	151					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TAGATTGGGTGATAGGGTCTT	0.403000														22			7		0	0	0.004482	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668540	94668540	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:94668540C>T	uc001dqj.4	-	9	1257	c.888G>A	c.(886-888)agG>agA	p.R296R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.R296R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	296					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCATTTTTCCTTCCAAGTA	0.294000														60			25		0	0	0.003954	0	0
SALL1	6299	broad.mit.edu	37	16	51171225	51171225	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51171225C>T	uc021tif.1	-	2	3804	c.3482G>A	c.(3481-3483)gGt>gAt	p.G1161D	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.G110D	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1258					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGGATGCCACCGTTCTGAAT	0.572000														35			18		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179437206	179437206	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179437206G>A	uc021vsy.1	-	274	66174	c.65949C>T	c.(65947-65949)atC>atT	p.I21983I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I15678I|TTN_uc021vta.1_Silent_p.I15611I|TTN_uc021vtb.1_Silent_p.I15486I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22910							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAGTTCTTGATTTTTGAAC	0.448000														29			14		0	0	0.001855	0	0
ATRNL1	26033	broad.mit.edu	37	10	117309040	117309040	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:117309040G>A	uc001lcg.3	+	25	4175	c.3789G>A	c.(3787-3789)cgG>cgA	p.R1263R	ATRNL1_uc010qsm.2_Silent_p.R392R|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1263						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTCTCGACGGAGAGAGGTAT	0.343000														30			18		0	0	0.006122	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2416539	2416539	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:2416539G>A	uc010xgx.2	+	10	1647	c.1647G>A	c.(1645-1647)acG>acA	p.T549T		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	549	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATAGCACGAAGGTGGAGC	0.687000														11			9		0	0	0.010729	0	0
MYO18A	399687	broad.mit.edu	37	17	27493258	27493258	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27493258G>A	uc002hdt.1	-	1	859	c.701C>T	c.(700-702)tCc>tTc	p.S234F	MYO18A_uc010csa.1_Missense_Mutation_p.S234F|MYO18A_uc002hdu.1_Missense_Mutation_p.S234F	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	234	PDZ.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGCCGCAGGGAGAAGCCAAA	0.697000														38			24		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179497937	179497937	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179497937C>T	uc021vsy.1	-	181	35584	c.35359G>A	c.(35359-35361)Gga>Aga	p.G11787R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5482R|TTN_uc021vta.1_Missense_Mutation_p.G5415R|TTN_uc021vtb.1_Missense_Mutation_p.G5290R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12714	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGGCTGTCCTTTCAGCTTC	0.438000														28			16		0	0	0.004007	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589311	140589311	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140589311T>A	uc003liz.3	+	0	1021	c.832T>A	c.(832-834)Tcc>Acc	p.S278T	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	278	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGAACTATCCTATACCTT	0.418000														80			52		0	0	0.003610	0	0
AIFM2	84883	broad.mit.edu	37	10	71874719	71874719	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:71874719G>A	uc010qjg.2	-	6	943	c.927C>T	c.(925-927)atC>atT	p.I309I	AIFM2_uc021psi.1_Silent_p.I309I|AIFM2_uc001jqp.2_Silent_p.I309I	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	309					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGAGTTGACGATGTTGGCCA	0.577000														13			9		0	0	0.008291	0	0
MOB3A	126308	broad.mit.edu	37	19	2076990	2076990	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:2076990G>A	uc002luu.3	-	1	603	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MOB3A_uc002luv.3_Silent_p.F148F	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	Homo sapiens MOB kinase activator 3A (MOB3A), mRNA.	148						intracellular	metal ion binding										CCGTCTGCAGGAAGTTCTTGG	0.612000														19			6		0	0	0.004482	0	0
FGD2	221472	broad.mit.edu	37	6	36995938	36995938	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:36995938G>A	uc010jwp.1	+	15	2138	c.1967G>A	c.(1966-1968)tGa>tAa	p.*656*	FGD2_uc003ong.2_Silent_p.*378*|FGD2_uc011dtv.1_Silent_p.*284*|FGD2_uc003onj.1_3'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	0					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTGTCCGACTGAGCCACTGCC	0.692000														13			12		0	0	0.001368	0	0
AHNAK	79026	broad.mit.edu	37	11	62299867	62299867	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:62299867C>T	uc001ntl.3	-	4	2322	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	674					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCCCAGACCCTCCAAGTTGA	0.483000														30			92		0	0	0.003610	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621898	99621898	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:99621898C>T	uc003usk.1	+	2	767	c.548C>T	c.(547-549)tCg>tTg	p.S183L	ZKSCAN1_uc003usj.3_Missense_Mutation_p.S182L|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S147L|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	183					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTCAAACATTCGTCTCGGAAA	0.532000														43			36		0	0	0.005524	0	0
SH3TC1	54436	broad.mit.edu	37	4	8237240	8237240	+	Silent	SNP	C	T	T	rs146468350		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:8237240C>T	uc003gkv.4	+	14	3464	c.3363C>T	c.(3361-3363)ttC>ttT	p.F1121F	SH3TC1_uc003gkw.4_Silent_p.F1045F|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1121							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACATCTTCTTCGACGGGGCCT	0.642000														77			43		0	0	0.013114	0	0
BAZ1A	11177	broad.mit.edu	37	14	35222877	35222877	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:35222877G>A	uc001wsk.3	-	26	5076	c.4508C>T	c.(4507-4509)tCg>tTg	p.S1503L	BAZ1A_uc001wsl.3_Missense_Mutation_p.S1471L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1503	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAAGCAGTTCGAAAACATTAA	0.333000														29			8		0	0	0.003080	0	0
NIPBL	25836	broad.mit.edu	37	5	36986157	36986157	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:36986157C>T	uc003jkl.4	+	9	3374	c.2875C>T	c.(2875-2877)Ccg>Tcg	p.P959S	NIPBL_uc003jkk.4_Missense_Mutation_p.P959S|NIPBL_uc003jkm.1_Missense_Mutation_p.P838S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	959					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTGTCATTCCGAAAATCAA	0.383000														48			30		0	0	0.009535	0	0
C1orf55	163859	broad.mit.edu	37	1	226175944	226175944	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:226175944G>A	uc001hpu.4	-	5	840	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	263										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					GAACCACTGGGAAATTTGGCT	0.478000														203			109		0	0	0.003610	0	0
ACLY	47	broad.mit.edu	37	17	40063700	40063700	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:40063700G>A	uc002hyg.3	-	6	905	c.742C>T	c.(742-744)Cca>Tca	p.P248S	ACLY_uc002hyh.3_Missense_Mutation_p.P248S|ACLY_uc002hyi.3_Missense_Mutation_p.P302S|ACLY_uc010wfx.2_Missense_Mutation_p.P302S|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	248					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTTACCTCTGGATATGCCTCC	0.597000														98			27		0	0	0.005443	0	0
abParts	0	broad.mit.edu	37	22	23117163	23117163	+	Splice_Site	SNP	G	C	C	rs138634938	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:23117163G>C	uc021wml.1	+	290		c.13031_splice	c.e290+2		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		GCTCACATAGGAGAGGTGGCA	0.537000														15			22		0	0	0.003954	0	0
ING4	51147	broad.mit.edu	37	12	6761532	6761532	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:6761532C>T	uc001qpw.4	-	5	594	c.553G>A	c.(553-555)Gat>Aat	p.D185N	ING4_uc001qpy.4_Missense_Mutation_p.D181N|ING4_uc001qpx.4_Missense_Mutation_p.D182N|ING4_uc009zes.3_Intron|ING4_uc009zet.3_Missense_Mutation_p.D161N|ING4_uc009zeu.3_Intron|ING4_uc009zev.3_Non-coding_Transcript|ING4_uc001qpv.4_Missense_Mutation_p.D184N	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA.	185					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TCCAACACATCAGAGGGGTGG	0.512000														80			38		0	0	0.004878	0	0
FAM64A	54478	broad.mit.edu	37	17	6350797	6350797	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:6350797C>T	uc002gcw.2	+	2	418	c.309C>T	c.(307-309)tcC>tcT	p.S103S	FAM64A_uc002gcu.2_Silent_p.S103S	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN	Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.	103						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		TCCAGGAGTCCTGCCAAAGTG	0.562000														97			48		0	0	0.003610	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038276	16038277	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:16038276_16038277CC>TT	uc002nbu.2	-	3	396_397	c.360_361GG>AA	c.(358-363)aaggat>aaAAat	p.D121N	CYP4F11_uc010eab.1_Missense_Mutation_p.D121N|CYP4F11_uc002nbt.2_Missense_Mutation_p.D121N	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	121					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAATCATATCCTTGGGTGCGA	0.540000														137			75		0	0	0.004672	0	0
FAT3	120114	broad.mit.edu	37	11	92086011	92086011	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:92086011G>A	uc001pdj.4	+	0	750	c.733G>A	c.(733-735)Gga>Aga	p.G245R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	245	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGGAACAATGGAGTGAGCAG	0.403000										TCGA Ovarian(4;0.039)				129			460		0	0	0.003610	0	0
MARCH2	51257	broad.mit.edu	37	19	8503369	8503369	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:8503369C>T	uc002mjv.3	+	5	1121	c.680C>T	c.(679-681)cCc>cTc	p.P227L	MARCH2_uc002mjw.3_Missense_Mutation_p.P227L|MARCH2_uc002mjx.3_Missense_Mutation_p.P157L	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	227					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCCGAGGGCCCCCAGCATTCT	0.612000														28			18		0	0	0.004990	0	0
TEX10	54881	broad.mit.edu	37	9	103092373	103092373	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:103092373G>A	uc004bas.3	-	5	1544	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	TEX10_uc011lvf.2_Silent_p.S282S|TEX10_uc011lvg.2_Silent_p.S446S|TEX10_uc011lvh.1_Silent_p.S378S	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	443						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CATTTGCCAGGGAGACCATGA	0.388000														25			32		0	0	0.008361	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406029	39406029	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39406029C>T	uc002hwi.3	+	0	91	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	19	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGCAGGACCACCT	0.617000														129			18		0	0	0.005443	0	0
TNIK	23043	broad.mit.edu	37	3	170858230	170858230	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:170858230C>T	uc003fhh.2	-	12	1635	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	TNIK_uc003fhi.2_Silent_p.Q430Q|TNIK_uc003fhj.2_Silent_p.Q430Q|TNIK_uc003fhk.2_Silent_p.Q430Q|TNIK_uc003fhl.2_Silent_p.Q430Q|TNIK_uc003fhm.2_Silent_p.Q430Q|TNIK_uc003fhn.2_Silent_p.Q430Q|TNIK_uc003fho.2_Silent_p.Q430Q	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	430	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCCGGCGCATCTGCTCCTCAT	0.647000														126			64		0	0	0.003610	0	0
ABCA4	24	broad.mit.edu	37	1	94466457	94466457	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:94466457G>A	uc001dqh.3	-	46	6518	c.6414C>T	c.(6412-6414)acC>acT	p.T2138T		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2138	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGCCAGCCGGGTACACAGTG	0.577000														45			24		0	0	0.003954	0	0
OR2W3	343171	broad.mit.edu	37	1	248059071	248059071	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248059071C>T	uc010pzb.2	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F	OR2W3_uc001idp.1_Silent_p.F61F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATGTACTTCTTCCTCGCCC	0.567000														235			70		0	0	0.003610	0	0
C2orf77	129881	broad.mit.edu	37	2	170502525	170502525	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:170502525T>C	uc002ufe.2	-	8	1579	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	495										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						CCTGTACAGCTTTTACAAGAG	0.443000														179			4		0	0	0.001168	0	0
CENPE	1062	broad.mit.edu	37	4	104063017	104063017	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:104063017C>T	uc003hxb.1	-	34	5443	c.5353G>A	c.(5353-5355)Gag>Aag	p.E1785K	CENPE_uc003hxc.1_Missense_Mutation_p.E1760K|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1785					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTGCTGCTCTTTCAGATGC	0.294000														31			22		0	0	0.003330	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68188300	68188300	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:68188300G>A	uc003xxo.2	-	8	1638	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	416					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTAAAATGTGGGAAAACTTAG	0.368000														7			15		0	0	0.004007	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648351	62648351	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:62648351G>A	uc001jli.3	-	6	1513	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	RHOBTB1_uc009xpe.2_Silent_p.L297L|RHOBTB1_uc001jlh.3_Silent_p.L359L|RHOBTB1_uc001jlj.3_Silent_p.L359L|RHOBTB1_uc001jlk.3_Silent_p.L359L	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	359	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCGGCTTCCAGCCCCAGAGCC	0.562000														91			48		0	0	0.003610	0	0
PGBD4	161779	broad.mit.edu	37	15	34396489	34396489	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:34396489A>G	uc001zho.3	+	0	2216	c.1757A>G	c.(1756-1758)tAa>tGa	p.*586*	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	0										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAAAATTATTAAATACCGATc	0.403000														19			10		0	0	0.001368	0	0
MAP3K15	389840	broad.mit.edu	37	X	19416366	19416366	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:19416366C>T	uc022btq.1	-	14	2044	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	MAP3K15_uc004czj.2_Missense_Mutation_p.E117K|MAP3K15_uc004czk.2_Missense_Mutation_p.E157K	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	682	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.R681R(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCCGGGATTTCTTTGATGGCT	0.547000														40			191		0	0	0.003610	0	0
ACSBG2	81616	broad.mit.edu	37	19	6165909	6165909	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6165909C>T	uc002mef.1	+	6	848	c.621C>T	c.(619-621)atC>atT	p.I207I	ACSBG2_uc002mee.1_Silent_p.I20I|ACSBG2_uc002meg.1_Silent_p.I207I|ACSBG2_uc002meh.1_Silent_p.I207I|ACSBG2_uc002mei.1_Silent_p.I157I|ACSBG2_uc010xiz.1_Silent_p.I207I	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	207					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGAAGTATCCCTGACACCC	0.547000											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			27		0	0	0.008361	0	0
APBA2	321	broad.mit.edu	37	15	29346605	29346605	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:29346605C>T	uc001zck.3	+	2	722	c.518C>T	c.(517-519)tCc>tTc	p.S173F	APBA2_uc010azj.2_Missense_Mutation_p.S173F|APBA2_uc010uat.2_Missense_Mutation_p.S173F|APBA2_uc001zcl.3_Missense_Mutation_p.S173F|APBA2_uc010uas.1_Missense_Mutation_p.S173F	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	173				DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GATGAGCCCTCCGTCCTTGAG	0.652000														24			9		0	0	0.006214	0	0
SPINT1	6692	broad.mit.edu	37	15	41145988	41145988	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:41145988C>T	uc001zna.3	+	4	1026	c.822C>T	c.(820-822)atC>atT	p.I274I	SPINT1_uc001znb.3_Silent_p.I274I|SPINT1_uc001znc.3_Silent_p.I274I|SPINT1_uc010ucs.2_Silent_p.I274I	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	274	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGGAGCAGATCTGCAAGAGTT	0.562000														81			53		0	0	0.003610	0	0
CST4	1472	broad.mit.edu	37	20	23669472	23669472	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:23669472C>T	uc002wto.1	-	0	191	c.135G>A	c.(133-135)caG>caA	p.Q45Q		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	45						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGGGCACGCTGTACCCACT	0.587000														50			23		0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9060792	9060792	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9060792G>A	uc002mkp.3	-	2	26858	c.26654C>T	c.(26653-26655)tCt>tTt	p.S8885F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8887	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAAAAGAGAAGTCACCCG	0.493000														49			40		0	0	0.008740	0	0
RMND5B	64777	broad.mit.edu	37	5	177569657	177569657	+	Silent	SNP	G	A	A	rs144820574	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:177569657G>A	uc011dgf.2	+	1	225	c.213G>A	c.(211-213)acG>acA	p.T71T	RMND5B_uc003mim.3_Silent_p.T71T|RMND5B_uc003min.3_Silent_p.T71T|RMND5B_uc003mio.3_Silent_p.T58T|RMND5B_uc003miq.3_Silent_p.T11T	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA.	71										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAAAGATACGGTGCAGAAAC	0.572000														73			39		0	0	0.006230	0	0
ZNF341	84905	broad.mit.edu	37	20	32345035	32345035	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:32345035G>A	uc002wzy.3	+	5	843	c.823G>A	c.(823-825)Gga>Aga	p.G275R	ZNF341_uc002wzx.3_Missense_Mutation_p.G275R|ZNF341_uc010geq.3_Missense_Mutation_p.G185R|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CAAACCCAAAGGACCAAACCC	0.607000														114			66		0	0	0.003610	0	0
MAST4	375449	broad.mit.edu	37	5	66460381	66460382	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:66460381_66460382GG>AA	uc021xzk.1	+	28	5682_5683	c.5374_5375GG>AA	c.(5374-5376)ggt>AAt	p.G1792N	MAST4_uc003jut.2_Missense_Mutation_p.G1603N|MAST4_uc003juw.3_Missense_Mutation_p.G1531N|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1795						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TAAGCTGGAAGGTAGGTCTGTC	0.584000														59			39		0	0	0.004672	0	0
STK40	83931	broad.mit.edu	37	1	36826901	36826901	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:36826901C>T	uc001cak.1	-	2	440	c.33G>A	c.(31-33)ggG>ggA	p.G11G	STK40_uc001cal.1_Silent_p.G11G|STK40_uc001cam.1_Silent_p.G11G|STK40_uc001can.1_Silent_p.G11G	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	11						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.A10V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGACGTTTCCCCAGCTCCTC	0.502000														77			42		0	0	0.011902	0	0
SNRPE	6635	broad.mit.edu	37	1	203832801	203832801	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:203832801T>C	uc001hai.3	+	2	140	c.92T>C	c.(91-93)aTt>aCt	p.I31T	SNRPE_uc010pqn.2_Non-coding_Transcript	NM_003094	NP_003085	P62304	RUXE_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE), mRNA.	31					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGATCGCGGATTCAGGTGTGG	0.458000														82			122		0	0	0.003610	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224041	43224041	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:43224041C>T	uc002lbe.3	+	9	2083	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	SLC14A2_uc002lbb.3_Missense_Mutation_p.P423S|SLC14A2_uc010dnj.3_Missense_Mutation_p.P423S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	423						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCAGACTCCCACTCAGCAA	0.567000														127			13		0	0	0.002450	0	0
OR6C6	283365	broad.mit.edu	37	12	55688381	55688381	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:55688381C>T	uc010sph.2	-	0	636	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAGAGAGAATCACTAATACCA	0.413000														27			15		0	0	0.002450	0	0
OTOS	150677	broad.mit.edu	37	2	241078633	241078633	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:241078633G>A	uc002vyv.3	-	3	379	c.224C>T	c.(223-225)cCc>cTc	p.P75L	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	75						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GCTCCCCAGGGGGAAGTGGGC	0.642000														37			23		0	0	0.002780	0	0
DHX9	1660	broad.mit.edu	37	1	182845262	182845262	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:182845262A>G	uc001gpr.3	+	16	2068	c.1893A>G	c.(1891-1893)gaA>gaG	p.E631E	DHX9_uc001gps.3_Silent_p.E417E	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	631					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGAAAAGGAAACTCCTTTTG	0.393000														64			81		0	0	0.003610	0	0
GAMT	2593	broad.mit.edu	37	19	1398967	1398967	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:1398967G>A	uc002lsj.3	-	4	595	c.518C>T	c.(517-519)tCc>tTc	p.S173F	AK126693_uc002lsi.1_5'Flank|GAMT_uc002lsk.3_Missense_Mutation_p.S173F	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	173					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	CTCCCCCCAGGAGGTGAGGTT	0.607000														41			21		0	0	0.003954	0	0
DHX15	1665	broad.mit.edu	37	4	24543617	24543617	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:24543617G>A	uc003gqx.3	-	7	1532	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	DHX15_uc003gqw.3_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	455	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CACCAAAAGGGACTCAACTCT	0.418000														26			17		0	0	0.006122	0	0
ZNF559	84527	broad.mit.edu	37	19	9449175	9449175	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9449175C>T	uc002mle.4	+	2	549	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	ZNF559_uc002mld.3_Missense_Mutation_p.L48F|ZNF559_uc021uoj.1_Intron|ZNF559_uc010xkn.2_Intron|ZNF559_uc021uok.1_5'UTR|ZNF559_uc021uol.1_5'UTR|ZNF559_uc010dwk.2_Missense_Mutation_p.L12F|ZNF559_uc002mlf.3_5'UTR|ZNF559_uc010dwl.2_Missense_Mutation_p.L48F|ZNF559_uc002mlh.2_Non-coding_Transcript|ZNF559_uc021uom.1_5'UTR|ZNF177_uc002mli.3_5'UTR|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTAAGATCATCTTTCTCAAGA	0.398000														19			11		0	0	0.010729	0	0
HOXB1	3211	broad.mit.edu	37	17	46608044	46608044	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:46608044G>A	uc002ink.1	-	0	229	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	HOXB1_uc021tzf.1_Missense_Mutation_p.P75S	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	75						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGGAAGGGCACCCCCAGG	0.677000														70			27		0	0	0.004656	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532385	40532385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:40532385G>A	uc003xnr.3	-	4	561	c.415C>T	c.(415-417)Caa>Taa	p.Q139*	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	139						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TCTCTTCTTTGATAGGGAGAT	0.507000														40			132		0	0	0.003610	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966992	39966992	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39966992C>T	uc003ayc.3	+	1	236	c.236_splice	c.e1+1	p.P79_splice	CACNA1I_uc003ayd.3_Splice_Site_p.P79_splice	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	79					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGTGCAACCCATATCCTCC	0.632000														42			18		0	0	0.004990	0	0
PCLO	27445	broad.mit.edu	37	7	82585408	82585408	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82585408C>T	uc003uhx.2	-	4	5150	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K	PCLO_uc003uhv.2_Missense_Mutation_p.E1621K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1552					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGCATCTTCATCAATGCTT	0.413000														320			222		0	0	0.003610	0	0
PCDH10	57575	broad.mit.edu	37	4	134073035	134073035	+	Silent	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:134073035G>T	uc003iha.3	+	0	2566	c.1740G>T	c.(1738-1740)ggG>ggT	p.G580G	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.G580G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	580					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTACCAGGGCGCAACGGGA	0.682000														26			17		1.15088e-07	1.24657e-07	0.004007	1	0
DDN	23109	broad.mit.edu	37	12	49391080	49391080	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:49391080G>A	uc001rsv.1	-	1	1597	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	527	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						Tcgcccccgcggcccccgccg	0.682000														10			4		0	0	0.009096	0	0
TOP2A	7153	broad.mit.edu	37	17	38574030	38574030	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:38574030G>A	uc002huq.3	-	0	173	c.14C>T	c.(13-15)cCa>cTa	p.P5L		NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	5					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACCTGCAATGGTGACACTTC	0.672000														31			4		0	0	0.006214	0	0
C4orf26	152816	broad.mit.edu	37	4	76489736	76489736	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:76489736G>A	uc011cbo.2	+	2	559	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_3'UTR	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTATCTTTCGAAACTAAAAC	0.343000														13			4		0	0	0.009096	0	0
LMF2	91289	broad.mit.edu	37	22	50942023	50942023	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:50942023C>T	uc003blp.2	-	13	1952	c.1921G>A	c.(1921-1923)Ggg>Agg	p.G641R	LMF2_uc003blo.2_Missense_Mutation_p.G616R	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	641						endoplasmic reticulum membrane|integral to membrane		p.L641L(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGAGGAGCCCCCAGAGCAGG	0.692000														2			4		0	0	0.000602	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382963	39382963	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39382963C>T	uc002hwf.3	+	0	64	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	Homo sapiens keratin associated protein 9-2 (KRTAP9-2), mRNA.	19	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGCAGGACCACCT	0.637000														127			33		0	0	0.010771	0	0
AFF1	4299	broad.mit.edu	37	4	88052973	88052973	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:88052973G>T	uc011ccz.2	+	17	3405	c.3130G>T	c.(3130-3132)Gat>Tat	p.D1044Y	AFF1_uc003hqj.4_Missense_Mutation_p.D1037Y|AFF1_uc003hqk.4_Missense_Mutation_p.D1037Y|AFF1_uc011cda.2_Missense_Mutation_p.D675Y	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	1037						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATCCTTCTCAGATGCCACAGC	0.313000														19			11		0.00244969	0.00263383	0.002450	1	0
ARAP2	116984	broad.mit.edu	37	4	36212031	36212031	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:36212031C>T	uc003gsq.2	-	5	1806	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	ARAP2_uc003gsr.1_Missense_Mutation_p.D490N	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	490	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAGAGTTTATCCAGCCATCCT	0.383000														24			9		0	0	0.004482	0	0
OR52N4	390072	broad.mit.edu	37	11	5776682	5776682	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:5776682A>T	uc001mbu.3	+	0	760	c.712A>T	c.(712-714)Aag>Tag	p.K238*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGCTCGGCAGAAGGCCTTTAA	0.493000														32			86		0	0	0.003610	0	0
LRRC27	80313	broad.mit.edu	37	10	134147046	134147046	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:134147046C>T	uc010quw.1	+	1	213	c.18C>T	c.(16-18)tcC>tcT	p.S6S	STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Silent_p.S6S|LRRC27_uc010quv.1_Silent_p.S6S|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.S6S|LRRC27_uc001llj.2_5'Flank	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	6										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAAGCAGCTCCTACGAAGTTC	0.567000														24			15		0	0	0.004990	0	0
RBM5	10181	broad.mit.edu	37	3	50155851	50155851	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:50155851C>T	uc003cyg.3	+	24	2585	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	RBM5_uc011bdk.2_Missense_Mutation_p.R632W|RBM5_uc003cyh.3_Missense_Mutation_p.R261W|AK125500_uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	804	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGATGCTGTCCGGAAAGCCAT	0.542000														25			8		0	0	0.004482	0	0
OR4K1	79544	broad.mit.edu	37	14	20404152	20404152	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20404152G>A	uc001vwj.2	+	0	386	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTTTGTTGGGAGTGAGATGA	0.433000														61			27		0	0	0.008361	0	0
FBXO10	26267	broad.mit.edu	37	9	37537332	37537332	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:37537332G>A	uc004aac.3	-	2	1322	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	FBXO10_uc004aab.3_Silent_p.S398S|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	398						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCAGCTGAATGGATGCTCCTG	0.587000														2			5		0	0	0.001168	0	0
KCNT2	343450	broad.mit.edu	37	1	196438186	196438186	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196438186C>T	uc001gtd.1	-	5	457	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E133K|KCNT2_uc001gtf.1_Missense_Mutation_p.E133K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E133K|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAATCTGTTCCCAGATGTTT	0.338000														15			7		0	0	0.004482	0	0
LOC729020	729020	broad.mit.edu	37	10	105005787	105005787	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:105005787C>T	uc009xxi.2	+	0	144	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	12					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										CCCGTCCATCCTCAACAGCGA	0.542000														25			15		0	0	0.002450	0	0
LAMA5	3911	broad.mit.edu	37	20	60902993	60902993	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:60902993G>A	uc002ycq.3	-	35	4793	c.4726C>T	c.(4726-4728)Ccc>Tcc	p.P1576S	LAMA5_uc021wfw.1_Missense_Mutation_p.P1576S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1576	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R1575H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTCACAGGGGCGGCAGCGG	0.687000														33			21		0	0	0.003330	0	0
CSMD2	114784	broad.mit.edu	37	1	34066541	34066541	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:34066541C>T	uc001bxm.1	-	43	6957	c.6780G>A	c.(6778-6780)caG>caA	p.Q2260Q	CSMD2_uc001bxn.1_Silent_p.Q2262Q|CSMD2_uc001bxo.1_Silent_p.Q1133Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2262	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGATGAACTCTGCACTGTTT	0.577000														72			42		0	0	0.003610	0	0
AATK	9625	broad.mit.edu	37	17	79108181	79108182	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:79108181_79108182CC>TT	uc010dia.3	-	1	255_256	c.175_176GG>AA	c.(175-177)ggt>AAt	p.G59N	AATK_uc021ueu.1_5'Flank|MIR1250_uc021uex.1_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	59				MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2).		integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAACCCGATACCGCCCTTCTTA	0.649000														30			9		0	0	0.004672	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458139	51458139	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:51458139T>C	uc021qxx.1	-	4	1534	c.1022A>G	c.(1021-1023)gAt>gGt	p.D341G	CSRNP2_uc001rxu.2_Missense_Mutation_p.D341G	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	341					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCCGCTGGAATCTTCTTCTGC	0.587000														52			27		0	0	0.007291	0	0
PKD1L2	114780	broad.mit.edu	37	16	81155284	81155284	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:81155284G>A	uc002fgh.1	-	39	6513	c.6513C>T	c.(6511-6513)ctC>ctT	p.L2171L	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2173					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTACAGGCGGAGGCTCTGCA	0.602000														16			6		0	0	0.001168	0	0
P4HA3	283208	broad.mit.edu	37	11	74013507	74013507	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:74013507G>A	uc010rrj.2	-	2	517	c.474C>T	c.(472-474)gtC>gtT	p.V158V	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.V158V			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	158						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	p.G157A(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTCTCTGAAAGACACCTCGGG	0.552000														35			111		0	0	0.003610	0	0
HELQ	113510	broad.mit.edu	37	4	84350736	84350736	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:84350736G>A	uc003hom.3	-	11	2638	c.2459C>T	c.(2458-2460)tCt>tTt	p.S820F	HELQ_uc010ikb.3_Missense_Mutation_p.S753F|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	820							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTCTTCTTCAGACTTATAAAT	0.318000								Other identified genes with known or suspected DNA repair function						46			25		0	0	0.005443	0	0
CHST10	9486	broad.mit.edu	37	2	101014572	101014572	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:101014572G>A	uc002tam.3	-	4	623	c.225C>T	c.(223-225)ctC>ctT	p.L75L		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	75					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGGGCTGAACGAGCTGGCTGT	0.577000														45			27		0	0	0.006320	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751375	139751375	+	Silent	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:139751375G>T	uc004cjs.3	+	15	1904	c.1854G>T	c.(1852-1854)ctG>ctT	p.L618L	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	697	MAM 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTGTGCTCCTGGACCCCACAG	0.667000														12			18		7.45023e-12	8.09976e-12	0.010504	1	0
UBE3D	90025	broad.mit.edu	37	6	83728796	83728796	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:83728796G>A	uc003pjp.2	-	7	1014	c.906C>T	c.(904-906)atC>atT	p.I302I	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjq.3_Silent_p.I92I	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	302						cytoplasm	ligase activity										GGAATTTTTTGATATATTTGG	0.378000														8			10		0	0	0.010729	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906415	164906415	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:164906415G>A	uc003fej.4	-	1	2648	c.2204C>T	c.(2203-2205)cCc>cTc	p.P735L	SLITRK3_uc003fek.3_Missense_Mutation_p.P735L|SLITRK3_uc021xgy.1_Missense_Mutation_p.P735L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	735						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGACCCACGGGAGGGGCCTT	0.567000										HNSCC(40;0.11)				27			14		0	0	0.003163	0	0
METTL6	131965	broad.mit.edu	37	3	15452786	15452786	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:15452786G>A	uc003bzs.1	-	5	1090	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	METTL6_uc011avp.1_Silent_p.L233L	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	278							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TCCAGGCCCAGGACCACAGGA	0.463000														30			8		0	0	0.003080	0	0
COL8A1	1295	broad.mit.edu	37	3	99513870	99513870	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:99513870G>A	uc003dti.1	+	2	1256	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.G375G|COL8A1_uc003dth.1_Silent_p.G375G	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	375	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GACCAAGAGGGGAGAAAGGAC	0.622000														24			10		0	0	0.006214	0	0
DBC1	1620	broad.mit.edu	37	9	121930073	121930073	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:121930073G>A	uc004bkc.2	-	7	2031	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	525					cell cycle arrest|cell death	cytoplasm	protein binding	p.M524L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGAGAGTGAGGGACATGCGCT	0.572000														6			9		0	0	0.006214	0	0
DNAH7	56171	broad.mit.edu	37	2	196722234	196722234	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:196722234G>A	uc002utj.4	-	43	8382	c.8281C>T	c.(8281-8283)Cct>Tct	p.P2761S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2761	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAGCTGGAGGAATATTGTCC	0.383000														35			16		0	0	0.003163	0	0
FCRL5	83416	broad.mit.edu	37	1	157497563	157497563	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:157497563G>A	uc009wsm.3	-	8	1962	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H602Y|FCRL5_uc010phv.1_Missense_Mutation_p.H602Y|FCRL5_uc010phw.1_Missense_Mutation_p.H517Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	602	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGATAAAACCAG	0.577000														118			34		0	0	0.002836	0	0
MYH2	4620	broad.mit.edu	37	17	10429088	10429088	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:10429088G>A	uc010coi.3	-	30	4421	c.4293C>T	c.(4291-4293)gtC>gtT	p.V1431V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V1431V|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1431					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1430Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGGTCCTCGACCTCATTCT	0.537000														47			52		0	0	0.003610	0	0
AKAP10	11216	broad.mit.edu	37	17	19835231	19835231	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:19835231G>A	uc002gwo.3	-	9	1665	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	AKAP10_uc002gwp.1_Missense_Mutation_p.H510Y|AKAP10_uc010cqw.1_Intron	NM_007202	NP_009133	O43572	AKA10_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 10 (AKAP10), nuclear gene encoding mitochondrial protein, mRNA.	510					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGAACCGAATGGATGAGATCA	0.433000														33			15		0	0	0.003163	0	0
RBM12	10137	broad.mit.edu	37	20	34241544	34241544	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:34241544G>A	uc021wcr.1	-	0	1701	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CPNE1_uc010zvj.2_5'UTR|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Silent_p.I567I|RBM12_uc002xds.3_Silent_p.I567I|RBM12_uc002xdr.3_Silent_p.I567I|RBM12_uc021wcq.1_Silent_p.I567I	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	567						nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CATCCACTGGGATTCCTTCTA	0.413000														103			53		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179424620	179424620	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179424620C>T	uc021vsy.1	-	274	78760	c.78535G>A	c.(78535-78537)Gaa>Aaa	p.E26179K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19874K|TTN_uc021vta.1_Missense_Mutation_p.E19807K|TTN_uc021vtb.1_Missense_Mutation_p.E19682K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27106	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTCTTTCCTTTGCTATC	0.433000														59			26		0	0	0.004656	0	0
DNAH5	1767	broad.mit.edu	37	5	13753464	13753464	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:13753464C>T	uc003jfd.2	-	62	10792	c.10750G>A	c.(10750-10752)Gat>Aat	p.D3584N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3584	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAGTCATCATTTGGCAGA	0.388000									Kartagener syndrome					52			19		0	0	0.010504	0	0
MYH14	79784	broad.mit.edu	37	19	50795539	50795539	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:50795539C>T	uc010enu.1	+	36	5196	c.5149C>T	c.(5149-5151)Cgg>Tgg	p.R1717W	MYH14_uc002prq.1_Missense_Mutation_p.R1684W|MYH14_uc002prr.1_Missense_Mutation_p.R1676W|MYH14_uc010ycb.2_Missense_Mutation_p.R27W|MYH14_uc002prs.1_Missense_Mutation_p.R27W	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1676					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGCTATGGCGGGAGGTGGA	0.622000														12			7		0	0	0.001984	0	0
GPR98	84059	broad.mit.edu	37	5	89947487	89947487	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:89947487G>C	uc003kju.3	+	17	3452	c.3356G>C	c.(3355-3357)gGc>gCc	p.G1119A	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1119					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCCAAATGGCATTTTTTCT	0.338000														22			10		0	0	0.006214	0	0
NOL9	79707	broad.mit.edu	37	1	6589208	6589208	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:6589208G>A	uc001ans.3	-	9	1767	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	557					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTAATCCGGAGTGCGACTG	0.443000														17			15		0	0	0.004990	0	0
C2orf54	79919	broad.mit.edu	37	2	241835039	241835039	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:241835039C>T	uc002wae.4	-	0	535	c.376G>A	c.(376-378)Gag>Aag	p.E126K		NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	126										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AAGGTATCCTCGGTGGTCCAC	0.622000														16			10		0	0	0.008291	0	0
PDIA4	9601	broad.mit.edu	37	7	148716090	148716091	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:148716090_148716091GG>AA	uc003wff.2	-	2	750_751	c.468_469CC>TT	c.(466-471)acccag>acTTag	p.Q157*		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	157	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TCACCTTCCTGGGTTCTGGAGC	0.550000														36			20		0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166900468	166900468	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:166900468C>T	uc002udo.4	-	12	1981	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E	SCN1A_uc010fpk.3_Missense_Mutation_p.G585E|SCN1A_uc021vsb.1_Missense_Mutation_p.G585E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	585						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCTCAGATCCCACATCCTT	0.502000														43			22		0	0	0.012319	0	0
ZNF550	162972	broad.mit.edu	37	19	58058694	58058694	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58058694A>T	uc002qpe.1	-	1	795	c.795T>A	c.(793-795)aaT>aaA	p.N265K	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGTCCTATTATGGCGAA	0.463000														51			30		0	0	0.012213	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032415	21032415	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:21032415G>A	uc010sil.2	+	8	1246	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	SLCO1B3_uc001rek.3_Missense_Mutation_p.G394E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G394E|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	394					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTTTAGGAGGATTTATCATT	0.284000														35			19		0	0	0.010504	0	0
LARP1B	55132	broad.mit.edu	37	4	129131166	129131166	+	Silent	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:129131166C>A	uc003iga.3	+	19	2834	c.2703C>A	c.(2701-2703)ccC>ccA	p.P901P	LARP1B_uc003igc.3_Intron|LARP1B_uc010ioa.2_Intron|LARP1B_uc003ige.3_Intron|LARP1B_uc003igd.3_Intron|LARP1B_uc003igf.3_Silent_p.P101P	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	901							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TAAACTCTCCCAGAAGGAATA	0.433000														196			5		0.00307968	0.00330873	0.003080	1	0
DCDC5	100506627	broad.mit.edu	37	11	31115680	31115680	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:31115680A>T	uc009yjk.1	-	3	448	c.379T>A	c.(379-381)Ttc>Atc	p.F127I	DCDC5_uc009yjl.1_Missense_Mutation_p.F55I|DCDC5_uc001msu.2_Missense_Mutation_p.F298I	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CTGCCTGAGAAACTCCACTTT	0.448000														17			46		0	0	0.003610	0	0
NTRK1	4914	broad.mit.edu	37	1	156844179	156844179	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:156844179C>T	uc001fqh.1	+	8	1238	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Intron|NTRK1_uc009wsk.1_Intron	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	394					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTGCAGTCTCCTTCTCGCCGG	0.602000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				259			77		0	0	0.003610	0	0
CCL7	6354	broad.mit.edu	37	17	32598743	32598743	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:32598743C>T	uc002hhz.3	+	2	292	c.222C>T	c.(220-222)atC>atT	p.I74I	CCL7_uc010ctf.3_Non-coding_Transcript	NM_006273	NP_006264	P80098	CCL7_HUMAN	Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA.	74					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAAGGAGATCTGTGCTGACC	0.483000														66			23		0	0	0.003954	0	0
NPHS1	4868	broad.mit.edu	37	19	36340480	36340480	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:36340480G>A	uc002oby.3	-	5	840	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	228	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGAGGCCTTGATGGGGGCCT	0.587000														55			37		0	0	0.010771	0	0
DBNL	28988	broad.mit.edu	37	7	44100395	44100395	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:44100395C>T	uc003tjp.4	+	12	1271	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	DBNL_uc003tjo.4_Silent_p.S392S|DBNL_uc003tjq.4_Silent_p.S400S|DBNL_uc011kbm.2_Silent_p.S367S|DBNL_uc011kbo.2_Silent_p.S292S|DBNL_uc011kbp.2_Silent_p.S343S|DBNL_uc011kbq.2_Silent_p.S316S|DBNL_uc011kbn.2_Silent_p.S288S|DBNL_uc011kbr.2_Silent_p.S340S|DBNL_uc011kbs.2_Silent_p.S296S	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	391	SH3.				Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CAGAGATCTCCTTTGACCCCG	0.617000														70			39		0	0	0.007835	0	0
SH3D19	152503	broad.mit.edu	37	4	152053487	152053487	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:152053487G>A	uc010ipl.1	-	17	3057	c.1967C>T	c.(1966-1968)tCt>tTt	p.S656F	SH3D19_uc003imb.2_Missense_Mutation_p.S411F|SH3D19_uc003imc.2_Missense_Mutation_p.S597F|SH3D19_uc003ime.2_Missense_Mutation_p.S633F|SH3D19_uc010ipm.2_Missense_Mutation_p.S633F	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	656					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCTACCTGAGAGTTTGAGCC	0.358000														26			9		0	0	0.001855	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017762	17017762	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:17017762C>T	uc002nfb.3	-	30	4200	c.4168_splice	c.e30+1	p.D1390_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1343						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGACACCTACCTCGCATGATG	0.602000														11			4		0	0	0.009096	0	0
TBR1	10716	broad.mit.edu	37	2	162273514	162273514	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:162273514G>A	uc002ubw.1	+	0	895	c.593G>A	c.(592-594)gGg>gAg	p.G198E	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCCAGCCGGGGCTGGTGCCC	0.612000														62			29		0	0	0.006320	0	0
CDH4	1002	broad.mit.edu	37	20	60485547	60485547	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:60485547C>G	uc002ybn.2	+	8	1346	c.1258C>G	c.(1258-1260)Cag>Gag	p.Q420E	CDH4_uc002ybr.2_Missense_Mutation_p.Q383E|CDH4_uc002ybp.2_Missense_Mutation_p.Q346E	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	420	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGACCGAGATCAGCCCCACTC	0.567000														36			14		0	0	0.003163	0	0
TNK1	8711	broad.mit.edu	37	17	7286798	7286798	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7286798C>T	uc002ggi.4	+	3	521	c.289C>T	c.(289-291)Cca>Tca	p.P97S	TNK1_uc002ggj.4_Missense_Mutation_p.P97S|TNK1_uc010cmf.3_Non-coding_Transcript	NM_001251902	NP_001238831	Q13470	TNK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA.	97					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CTCGGACAGCCCACGGCACCT	0.637000														21			14		0	0	0.003163	0	0
MSRB3	253827	broad.mit.edu	37	12	65720645	65720645	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:65720645C>T	uc001ssn.3	+	1	263	c.137C>T	c.(136-138)tCc>tTc	p.S46F	MSRB3_uc009zqp.3_Missense_Mutation_p.S39F|MSRB3_uc001ssm.3_Missense_Mutation_p.S39F|MSRB3_uc021qzy.1_Missense_Mutation_p.S39F	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	46					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GTGGTCTTTTCCCAGCAGGAA	0.433000														22			11		0	0	0.003163	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508121	106508121	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:106508121C>T	uc003vdv.4	+	1	200	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	PIK3CG_uc003vdu.3_Missense_Mutation_p.P39S|PIK3CG_uc003vdw.3_Missense_Mutation_p.P39S	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	39					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGAGCTCATCCCCATCGAGTT	0.647000														61			41		0	0	0.006999	0	0
TFEB	7942	broad.mit.edu	37	6	41658526	41658526	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:41658526G>A	uc021yzl.1	-	1	545	c.544C>T	c.(544-546)Ccg>Tcg	p.P182S	TFEB_uc003oqs.1_Missense_Mutation_p.P115S|TFEB_uc003oqt.1_Missense_Mutation_p.P115S|TFEB_uc003oqu.1_Missense_Mutation_p.P115S|TFEB_uc003oqv.1_Missense_Mutation_p.P115S|TFEB_uc010jxo.1_Missense_Mutation_p.P115S|TFEB_uc003oqx.1_Missense_Mutation_p.P115S|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Missense_Mutation_p.P115S	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	115					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGGGTTTCGGAGAGCCCTGG	0.632000			T	ALPHA	renal (childhood epithelioid)									31			26		0	0	0.008361	0	0
ZNF709	163051	broad.mit.edu	37	19	12576517	12576517	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:12576517C>T	uc002mtv.4	-	3	380	c.219G>A	c.(217-219)agG>agA	p.R73R	ZNF709_uc002mtw.4_Silent_p.R41R|ZNF709_uc002mtx.4_Silent_p.R73R	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TACCTTCTTTCCTTTCACAGA	0.318000														13			9		0	0	0.008291	0	0
R3HDM1	23518	broad.mit.edu	37	2	136437804	136437804	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:136437804T>C	uc002tuo.3	+	19	2634	c.2264T>C	c.(2263-2265)tTc>tCc	p.F755S	R3HDM1_uc010fni.3_Missense_Mutation_p.F754S|R3HDM1_uc002tup.3_Missense_Mutation_p.F700S|R3HDM1_uc010zbh.2_Missense_Mutation_p.F503S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	755							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTGTTATGTTCCCTAATCAG	0.378000														56			28		0	0	0.012213	0	0
CD86	942	broad.mit.edu	37	3	121822563	121822563	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121822563C>T	uc003eet.3	+	2	397	c.269C>T	c.(268-270)tCg>tTg	p.S90L	CD86_uc011bjo.2_Missense_Mutation_p.S8L|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.S84L|CD86_uc021xcz.1_Missense_Mutation_p.S84L	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	90	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGTTTTGATTCGGACAGTTGG	0.433000														46			31		0	0	0.010818	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482416	102482417	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:102482416_102482417AC>TT	uc001yks.2	+	35	7630_7631	c.7466_7467AC>TT	c.(7465-7467)tac>tTT	p.Y2489F	DYNC1H1_uc001ykt.1_5'UTR	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2489					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGAGCGCTACATTCAGGTCA	0.614000														6			4		0	0	0.004672	0	0
INCENP	3619	broad.mit.edu	37	11	61912749	61912749	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:61912749G>A	uc001nsw.1	+	12	2026	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	INCENP_uc009ynw.1_Silent_p.E608E|INCENP_uc001nsx.1_Silent_p.E604E	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	608					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGATCGACGAGAAGACTGAGA	0.572000														18			56		0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65180440	65180440	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:65180440G>A	uc003hcv.3	-	4	586	c.477C>T	c.(475-477)ctC>ctT	p.L159L	TECRL_uc003hcw.3_Silent_p.L159L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	159					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AATAAAAGAGGAGGTATATTA	0.353000														42			20		0	0	0.002299	0	0
XPO1	7514	broad.mit.edu	37	2	61709610	61709610	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:61709610A>G	uc010ypn.2	-	23	3006	c.2877T>C	c.(2875-2877)agT>agC	p.S959S	XPO1_uc010fcl.3_Silent_p.S955S|XPO1_uc002sbj.3_Silent_p.S959S|XPO1_uc002sbk.3_Silent_p.S520S|XPO1_uc002sbh.3_Silent_p.S606S	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	959					intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTAATGATGTACTTATTTTTC	0.328000			Mis		CLL									20			21		0	0	0.012319	0	0
GBP3	2635	broad.mit.edu	37	1	89486328	89486328	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:89486328T>A	uc001dmt.3	-	1	282	c.77A>T	c.(76-78)gAa>gTa	p.E26V	GBP3_uc010oss.2_5'UTR|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.E26V	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	26						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTTCAGAGCTTCTGGATTCGC	0.512000														71			46		0	0	0.003610	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407760	1407761	+	Nonsense_Mutation	DNP	TT	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:1407760_1407761TT>AA	uc010nct.2	+	6	774_775	c.452_453TT>AA	c.(451-453)ttt>tAA	p.F151*	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpq.2_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.F151*|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.F18*|CSF2RA_uc004cpp.2_Nonsense_Mutation_p.F151*|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.F151*|CSF2RA_uc004cpr.2_Nonsense_Mutation_p.F151*	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	151						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCAGTATTTTTTGTACATAC	0.446000														112			41		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188507	140188507	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140188507G>A	uc003lhi.2	+	0	1836	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E579K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E579K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	592	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGAGCGAGCTGGTGCC	0.662000														45			44		0	0	0.003610	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651210	38651210	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:38651210G>A	uc010qex.1	+	2	357	c.282G>A	c.(280-282)ggG>ggA	p.G94G	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.G92G					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TAAATGCTGGGATCATGCCTA	0.363000														61			19		0	0	0.003954	0	0
FAM83B	222584	broad.mit.edu	37	6	54804859	54804859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:54804859C>T	uc003pck.3	+	4	1206	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	364										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCATTTTGTTCCTAACTTTAA	0.343000														30			53		0	0	0.003610	0	0
TYSND1	219743	broad.mit.edu	37	10	71903629	71903629	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:71903629G>A	uc001jqr.3	-	1	1420	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P	TYSND1_uc001jqq.3_Non-coding_Transcript|TYSND1_uc001jqs.3_Intron|TYSND1_uc001jqt.3_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	422	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GCACAGGGATGGGGACATCAT	0.597000														26			11		0	0	0.001368	0	0
NRAP	4892	broad.mit.edu	37	10	115349449	115349450	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:115349449_115349450CC>TT	uc001lal.3	-	40	5227_5228	c.5063_5064GG>AA	c.(5062-5064)agg>aAA	p.R1688K	NRAP_uc009xyb.3_Missense_Mutation_p.R441K|NRAP_uc001laj.3_Missense_Mutation_p.R1688K|NRAP_uc001lak.3_Missense_Mutation_p.R1653K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1688						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GACCCAGGCCCCTTGCGTTGGC	0.550000														55			32		0	0	0.004672	0	0
SLC6A17	388662	broad.mit.edu	37	1	110719356	110719356	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:110719356C>T	uc009wfq.3	+	5	1320	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	287					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.P287L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CATGTTCACTCCCAAGGTAAG	0.562000														66			32		0	0	0.002836	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105484080	105484080	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:105484080C>T	uc010qqu.1	-	2	203	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SH3PXD2A_uc001kxj.1_Missense_Mutation_p.E116K	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	116	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGAAGACTTCGTCACACTGT	0.552000														19			17		0	0	0.006122	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43218307	43218307	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:43218307G>A	uc003bdd.2	-	8	1001	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	ARFGAP3_uc010gzf.2_Silent_p.L217L|ARFGAP3_uc011apu.1_Silent_p.L189L	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	261					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ACCTTGGCCAGGTCTTCCTGC	0.343000														48			35		0	0	0.004878	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112704975	112704975	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:112704975C>T	uc004bei.2	+	6	698	c.506C>T	c.(505-507)gCc>gTc	p.A169V	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.A137V|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.A169V|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCTGTGTACGCCATGGAAATT	0.398000														5			5		0	0	0.000602	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504643	70504643	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:70504643C>T	uc011caq.2	-	2	1435	c.1319G>A	c.(1318-1320)tGg>tAg	p.W440*	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.W239*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.W239*|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	230					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTATGAATTCCATTCTCCCCA	0.323000														11			11		0	0	0.002450	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964868	119964868	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:119964868C>T	uc001ehs.3	+	2	1517	c.744C>T	c.(742-744)gtC>gtT	p.V248V	HSD3B2_uc021ost.1_Silent_p.V248V|HSD3B2_uc001eht.3_Silent_p.V248V|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	248					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CCCCAAGTGTCCGAGGTCAAT	0.512000														41			20		0	0	0.007413	0	0
CACNA1D	776	broad.mit.edu	37	3	53835248	53835248	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:53835248C>T	uc003dgv.4	+	41	5367	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	CACNA1D_uc003dgu.4_Missense_Mutation_p.S1755L|CACNA1D_uc003dgy.4_Missense_Mutation_p.S1720L|CACNA1D_uc003dgw.4_Missense_Mutation_p.S1402L|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1735					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGGAAATTCGGTGTGTCAT	0.468000														43			29		0	0	0.007291	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414281	19414281	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:19414281C>T	uc010tcj.1	-	0		c.31829G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCTTCATTTTCTTGTTGTAAG	0.279000														11			5		0	0	0.001168	0	0
MECR	51102	broad.mit.edu	37	1	29533322	29533322	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:29533322G>A	uc001brq.1	-	3	538	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	MECR_uc001brp.1_Missense_Mutation_p.P92S|MECR_uc001brt.1_Missense_Mutation_p.P92S|MECR_uc010ofz.1_Missense_Mutation_p.P168S	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCTGTGCAGGGATTGACACCC	0.602000														41			28		0	0	0.003755	0	0
PLOD1	5351	broad.mit.edu	37	1	12004676	12004676	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:12004676C>T	uc010obb.2	+	1	287	c.174C>T	c.(172-174)tcC>tcT	p.S58S	PLOD1_uc001atm.3_Intron	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	25					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGAGCCCTTCCCCAAGTGTGA	0.632000														15			7		0	0	0.004482	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526645	173526645	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:173526645A>C	uc001giz.2	-	9	1472	c.1049T>G	c.(1048-1050)tTg>tGg	p.L350W	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	350					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATAGTAAGCAACCTGTGGAG	0.299000														120			85		0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177913708	177913708	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:177913708G>A	uc001glj.1	-	19	2738	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	SEC16B_uc001glk.1_Silent_p.I300I|SEC16B_uc009wwy.1_Silent_p.I178I|SEC16B_uc001glh.1_Silent_p.I282I|SEC16B_uc001gli.1_Silent_p.I623I|SEC16B_uc009wwz.1_Silent_p.I282I	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	623					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGAAAGAAGGGATGAAGGATT	0.493000														66			100		0	0	0.003610	0	0
POTED	317754	broad.mit.edu	37	21	14982936	14982936	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:14982936G>A	uc002yjb.1	+	0	439	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	129						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GCGCCTTCATGGAGCCGAGGT	0.602000														56			37		0	0	0.004289	0	0
PAPPA	5069	broad.mit.edu	37	9	119158800	119158800	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:119158800C>T	uc004bjn.3	+	21	5170	c.4789C>T	c.(4789-4791)Cct>Tct	p.P1597S	PAPPA_uc011lxq.2_Missense_Mutation_p.P972S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1597					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACCCCATTCCCTATGTCCTG	0.522000														47			54		0	0	0.003610	0	0
PEG3	5178	broad.mit.edu	37	19	57326176	57326176	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57326176G>A	uc002qnu.2	-	6	3985	c.3634C>T	c.(3634-3636)Cgt>Tgt	p.R1212C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R1183C|PEG3_uc002qnv.2_Missense_Mutation_p.R1212C|PEG3_uc002qnw.2_Missense_Mutation_p.R1088C|PEG3_uc002qnx.2_Missense_Mutation_p.R1086C|PEG3_uc010etr.2_Missense_Mutation_p.R1212C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1212					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTGCAGCACGATTCCTCCGT	0.488000														37			17		0	0	0.006122	0	0
ANGPT4	51378	broad.mit.edu	37	20	896658	896658	+	Missense_Mutation	SNP	G	A	A	rs140900541		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:896658G>A	uc002wei.3	-	0	303	c.200C>T	c.(199-201)aCc>aTc	p.T67I	ANGPT4_uc010zpn.2_Missense_Mutation_p.T61I	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	67					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTCTGGAGGGTGTTGGAGTC	0.607000														66			30		0	0	0.012213	0	0
EYA3	2140	broad.mit.edu	37	1	28301011	28301011	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:28301011G>A	uc001bpi.2	-	17	1870	c.1688C>T	c.(1687-1689)tCc>tTc	p.S563F	EYA3_uc010ofs.2_Missense_Mutation_p.S510F|EYA3_uc010oft.2_Missense_Mutation_p.S517F	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	563					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	p.V562A(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTGAAGGGATACTAGGTC	0.468000														55			23		0	0	0.005443	0	0
HEATR7B2	133558	broad.mit.edu	37	5	40998216	40998216	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:40998216C>T	uc003jmj.4	-	41	5186	c.4696G>A	c.(4696-4698)Gca>Aca	p.A1566T	HEATR7B2_uc003jmi.4_Missense_Mutation_p.A1121T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1566							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCCTCAGCTGCTCTCTGGACA	0.463000														117			54		0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183104895	183104895	+	Missense_Mutation	SNP	C	T	T	rs145482728		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:183104895C>T	uc002uos.3	-	3	424	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	PDE1A_uc010zfp.1_Missense_Mutation_p.E10K|PDE1A_uc002uoq.1_Missense_Mutation_p.E114K|PDE1A_uc010zfq.1_Missense_Mutation_p.E114K|PDE1A_uc002uor.3_Missense_Mutation_p.E98K|PDE1A_uc002uou.3_Missense_Mutation_p.E80K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	114					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E114K(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTGGTTTTTCCTCAGGTTTC	0.418000														60			37		0	0	0.004878	0	0
TTC3	7267	broad.mit.edu	37	21	38534350	38534350	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:38534350C>T	uc002yvz.3	+	30	3260	c.3155C>T	c.(3154-3156)tCa>tTa	p.S1052L	TTC3_uc011aee.1_Missense_Mutation_p.S742L|TTC3_uc002ywa.3_Missense_Mutation_p.S1052L|TTC3_uc002ywb.3_Missense_Mutation_p.S1052L|TTC3_uc010gnf.3_Missense_Mutation_p.S817L|TTC3_uc002ywc.3_Missense_Mutation_p.S742L|TTC3_uc002ywd.1_Missense_Mutation_p.S116L	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1052					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCATCACTTCAAGTGAAGAC	0.269000														7			8		0	0	0.003080	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816036	101816036	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:101816036G>A	uc003knn.3	-	1	633	c.461C>T	c.(460-462)tCa>tTa	p.S154L	SLCO6A1_uc003kno.3_Missense_Mutation_p.S154L|SLCO6A1_uc003knp.3_Missense_Mutation_p.S154L|SLCO6A1_uc003knq.3_Missense_Mutation_p.S154L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	154						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGGCCAGATGAAATATCGTA	0.358000														61			23		0	0	0.002299	0	0
WFDC1	58189	broad.mit.edu	37	16	84353060	84353060	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:84353060G>A	uc002fhv.3	+	3	622	c.445G>A	c.(445-447)Gat>Aat	p.D149N	WFDC1_uc002fhw.3_Missense_Mutation_p.D149N	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA.	149					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CACCACGGAGGATGGGGCCGA	0.637000														26			16		0	0	0.004990	0	0
SIM2	6493	broad.mit.edu	37	21	38098456	38098456	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:38098456T>C	uc002yvr.2	+	5	636	c.580T>C	c.(580-582)Tat>Cat	p.Y194H	SIM2_uc002yvq.3_Missense_Mutation_p.Y194H	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	194					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GATCAGGCAGTATATGCTGGA	0.612000														89			30		0	0	0.004289	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996329	34996330	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:34996329_34996330CC>TT	uc011los.2	+	2	856_857	c.495_496CC>TT	c.(493-498)gacccc>gaTTcc	p.P166S	DNAJB5_uc003zvs.3_Missense_Mutation_p.P128S|DNAJB5_uc003zvt.3_Missense_Mutation_p.P94S	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	94					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCATGGGGACCCCCATGCCAC	0.594000														18			15		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179462333	179462333	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179462333C>T	uc021vsy.1	-	242	49997	c.49772G>A	c.(49771-49773)gGc>gAc	p.G16591D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.G10286D|TTN_uc021vta.1_Missense_Mutation_p.G10219D|TTN_uc021vtb.1_Missense_Mutation_p.G10094D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17518	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATAGACGCCTTGATGGCT	0.403000														24			16		0	0	0.008871	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225311	50225311	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:50225311C>T	uc003cyj.3	+	18	2319	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	SEMA3F_uc003cyk.3_Silent_p.F676F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	707					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTGCCCTCTTCCCACCACTGT	0.652000														22			5		0	0	0.000602	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531876	6531876	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:6531876G>A	uc002gde.4	-	2	638	c.279C>T	c.(277-279)tcC>tcT	p.S93S	KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	93						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTCTCTCTTGGGATATGACGG	0.398000														55			26		0	0	0.003954	0	0
LTBP1	4052	broad.mit.edu	37	2	33477784	33477784	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:33477784C>T	uc021vft.1	+	10	2063	c.2040C>T	c.(2038-2040)taC>taT	p.Y680Y	LTBP1_uc002rou.3_Silent_p.Y354Y|LTBP1_uc002rov.3_Silent_p.Y354Y|LTBP1_uc010ymz.2_Silent_p.Y354Y|LTBP1_uc010yna.2_Silent_p.Y354Y	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	680	TB 2.				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			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)				GGCCCTGTTACCGACTTGTCA	0.517000														69			45		0	0	0.003610	0	0
AK311167	0	broad.mit.edu	37	9	69067929	69067929	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:69067929G>A	uc010mnq.2	+	2		c.526_splice	c.e2+1							Homo sapiens cDNA, FLJ18209.																		TGATATGTTGGTGAGTCAGTT	0.279000														14			9		0	0	0.008291	0	0
RNF157	114804	broad.mit.edu	37	17	74155521	74155521	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74155521G>A	uc002jqz.3	-	11	1268	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	RNF157_uc002jra.3_Missense_Mutation_p.S400L	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	400							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTGCCATATGAAGGGAGCAT	0.592000														41			60		0	0	0.003610	0	0
GINS4	84296	broad.mit.edu	37	8	41399330	41399330	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:41399330C>T	uc003xnx.3	+	6	697	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	GINS4_uc022aug.1_Non-coding_Transcript	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	163					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CCTGGCAGTTCCCAAACCAGA	0.443000														12			28		0	0	0.008361	0	0
VIL1	7429	broad.mit.edu	37	2	219294156	219294156	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:219294156C>T	uc002vib.3	+	5	738	c.716C>T	c.(715-717)gCc>gTc	p.A239V	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.A239V|VIL1_uc002vic.1_Missense_Mutation_p.A239V	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	239	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAAGGCGGCCGTGCCCGAC	0.632000														34			24		0	0	0.003954	0	0
FAM126B	285172	broad.mit.edu	37	2	201853036	201853036	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:201853036G>A	uc002uws.4	-	10	1128	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	FAM126B_uc002uwu.3_Missense_Mutation_p.R232W|FAM126B_uc002uwv.3_Missense_Mutation_p.R314W	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	314						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATTGCAGTCCGAGAAATCCTC	0.423000														55			40		0	0	0.010771	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371468	114371468	+	RNA	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:114371468A>G	uc022bly.1	-	1		c.638T>C								Homo sapiens chromosome 9 open reading frame 29 (C9orf29), non-coding RNA.																		GGTCCGGATAACATGAGAAAC	0.502000														28			47		0	0	0.003610	0	0
ATP2A3	489	broad.mit.edu	37	17	3839721	3839721	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:3839721G>A	uc002fwy.2	-	15	2537	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	ATP2A3_uc002fwz.2_Silent_p.I788I|ATP2A3_uc002fxa.2_Silent_p.I788I|ATP2A3_uc002fxb.2_Silent_p.I788I|ATP2A3_uc002fxc.2_Silent_p.I788I|ATP2A3_uc002fxd.2_Silent_p.I788I|ATP2A3_uc002fwx.2_Silent_p.I788I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	788					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTGCACAGGGATCAGGGCTT	0.632000														54			17		0	0	0.007413	0	0
LCE2A	353139	broad.mit.edu	37	1	152671415	152671415	+	Missense_Mutation	SNP	C	T	T	rs112496497		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152671415C>T	uc021oze.1	+	0	38	c.38C>T	c.(37-39)cCt>cTt	p.P13L	LCE2A_uc001faj.3_Missense_Mutation_p.P13L	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	13	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCAGCCCCCTCCCAAGTGC	0.552000														69			92		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2857600	2857600	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:2857600C>T	uc022aqr.1	-	52	8473	c.8083G>A	c.(8083-8085)Ggc>Agc	p.G2695S	CSMD1_uc011kwj.2_Missense_Mutation_p.G2025S|CSMD1_uc010lrg.3_Missense_Mutation_p.G706S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2696	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAACTGAAGCCATCTCCACTA	0.468000														17			46		0	0	0.003610	0	0
KCND3	3752	broad.mit.edu	37	1	112321074	112321074	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:112321074C>T	uc001ebu.1	-	5	1982	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q	KCND3_uc001ebv.1_Intron	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	501						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTGGAGGTTCGTACAGATAA	0.413000														59			24		0	0	0.005443	0	0
DUSP1	1843	broad.mit.edu	37	5	172195795	172195795	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:172195795C>T	uc003mbv.2	-	3	1322	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	DUSP1_uc003mbu.2_Silent_p.Q246Q	NM_004417	NP_004408	P28562	DUS1_HUMAN	Homo sapiens dual specificity phosphatase 1 (DUSP1), mRNA.	358	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TAATGGGGCTCTGAAGGTAGC	0.582000														58			24		0	0	0.003330	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12887980	12887980	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:12887980G>A	uc002gnr.4	+	19	2399	c.2072G>A	c.(2071-2073)gGa>gAa	p.G691E	ARHGAP44_uc010vvk.2_Missense_Mutation_p.G691E|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G685E|ARHGAP44_uc002gns.4_Missense_Mutation_p.G485E|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G685E|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	691					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCACCCTATGGACTGAGCTAC	0.667000														16			9		0	0	0.004482	0	0
SIPA1	6494	broad.mit.edu	37	11	65414473	65414473	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:65414473G>A	uc001ofb.2	+	7	2135	c.1968G>A	c.(1966-1968)gcG>gcA	p.A656A	SIPA1_uc010rom.1_Silent_p.A554A|SIPA1_uc001ofd.2_Silent_p.A656A|MIR4489_uc021qlo.1_5'Flank	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	656					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCGGGGAGGCGATCACGCTGC	0.716000														1			3		0	0	0.009096	0	0
SPTB	6710	broad.mit.edu	37	14	65260452	65260452	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:65260452G>A	uc001xht.3	-	12	1980	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	SPTB_uc001xhr.3_Silent_p.F643F|SPTB_uc001xhs.3_Silent_p.F643F|SPTB_uc001xhu.3_Silent_p.F643F	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	643					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCATCTCCCAGAAGAACTTCC	0.542000														40			18		0	0	0.007413	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603629	28603630	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:28603629_28603630GG>AC	uc002dqg.2	-	6	1080_1081	c.729_730CC>GT	c.(727-732)gtccgc>gtGTgc	p.R244C	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Missense_Mutation_p.R244C	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AACTCCCGGCGGACGGTGGTGT	0.599000														100			47		0	0	0.004672	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762825	92762825	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:92762825G>A	uc003umh.1	-	4	3676	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	SAMD9L_uc003umj.1_Silent_p.S820S|SAMD9L_uc003umi.1_Silent_p.S820S|SAMD9L_uc010lfb.1_Silent_p.S820S|SAMD9L_uc003umk.1_Silent_p.S820S|SAMD9L_uc010lfc.1_Silent_p.S820S|SAMD9L_uc010lfd.1_Silent_p.S820S|SAMD9L_uc022ahh.1_Silent_p.S820S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCTAAAACGGAATGGATGG	0.378000														59			55		0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634164	121634164	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121634164G>A	uc003eep.2	+	6	772	c.619_splice	c.e6+1	p.G207_splice	SLC15A2_uc011bjn.1_Splice_Site_p.G176_splice	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	207					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CATGCTGAGAGGTTAGGATTT	0.438000														25			18		0	0	0.008871	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435596	18435596	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:18435596G>A	uc001rdt.3	+	1	697	c.581G>A	c.(580-582)aGg>aAg	p.R194K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R194K|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	194					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAGAATAAAAGGAGTGGACAT	0.383000														85			65		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82582812	82582812	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82582812A>G	uc003uhx.2	-	4	7746	c.7457T>C	c.(7456-7458)gTt>gCt	p.V2486A	PCLO_uc003uhv.2_Missense_Mutation_p.V2486A|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2417					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTAGGAGGAACAGGAGGAGG	0.463000														69			45		0	0	0.011902	0	0
GRID2	2895	broad.mit.edu	37	4	94006285	94006285	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:94006285G>A	uc011cdt.2	+	2	642	c.384G>A	c.(382-384)agG>agA	p.R128R	GRID2_uc010ikx.3_Silent_p.R128R|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	128					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACCCCAAGGAGTGGCTGTG	0.552000														42			35		0	0	0.003755	0	0
SPOCK3	50859	broad.mit.edu	37	4	167663158	167663158	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:167663158C>T	uc011cjq.1	-	7	1077	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	SPOCK3_uc021xuf.1_Silent_p.K331K|SPOCK3_uc011cjr.1_Silent_p.K211K|SPOCK3_uc003iri.1_Silent_p.K331K|SPOCK3_uc011cjs.1_Silent_p.K280K|SPOCK3_uc003irj.1_Silent_p.K328K|SPOCK3_uc011cjt.1_Silent_p.K239K|SPOCK3_uc011cjp.2_Silent_p.K288K|SPOCK3_uc011cju.1_Silent_p.K235K|SPOCK3_uc011cjv.1_Silent_p.K233K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	331	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.K328N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTAGGAGCTTCTTTACCCCTT	0.378000														71			33		0	0	0.003755	0	0
SBNO1	55206	broad.mit.edu	37	12	123815827	123815827	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:123815827G>A	uc010tap.2	-	6	1005	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	SBNO1_uc010tao.2_Silent_p.I334I|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Silent_p.I334I|SBNO1_uc001uet.2_Silent_p.I335I|SBNO1_uc001uev.2_Silent_p.I333I|SBNO1_uc009zxy.1_Silent_p.I300I	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	335							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AATTTTCATAGATGATTCCTG	0.448000														47			38		0	0	0.006230	0	0
DUOX2	50506	broad.mit.edu	37	15	45396185	45396185	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:45396185G>A	uc001zun.3	-	19	2830	c.2627C>T	c.(2626-2628)tCc>tTc	p.S876F	DUOX2_uc010bea.3_Missense_Mutation_p.S876F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	876	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTCGTCCTTGGAGAGGAAGCC	0.483000														24			21		0	0	0.002299	0	0
ITGAM	3684	broad.mit.edu	37	16	31341482	31341483	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:31341482_31341483GG>AA	uc002ebr.3	+	25	3158_3159	c.3060_3061GG>AA	c.(3058-3063)gtggtg>gtAAtg	p.V1021M	ITGAM_uc002ebq.3_Missense_Mutation_p.V1020M|ITGAM_uc010can.3_Missense_Mutation_p.V426M	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1020					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGCCCCCGTGGTGGTGAGAAG	0.599000														12			7		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106993982	106993982	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:106993982C>T	uc021ser.1	-	233		c.9272G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.537000														122			85		0	0	0.003610	0	0
CCDC33	80125	broad.mit.edu	37	15	74622662	74622662	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:74622662G>A	uc002axo.3	+	11	1817	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R	CCDC33_uc002axp.3_Missense_Mutation_p.G297R|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.G68R|CCDC33_uc002axr.3_Missense_Mutation_p.G68R	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	678							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGAGGAAGAGGGGCAGGGCAA	0.642000														11			6		0	0	0.001168	0	0
ASAH2	56624	broad.mit.edu	37	10	52002997	52002997	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:52002997C>T	uc001jjd.3	-	2	475	c.475G>A	c.(475-477)Gac>Aac	p.D159N	ASAH2_uc009xos.3_Missense_Mutation_p.D159N	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	159					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						ATGCCTATGTCGATGCTGACA	0.468000														88			41		0	0	0.010771	0	0
COPB2	9276	broad.mit.edu	37	3	139076710	139076710	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:139076710C>T	uc003etf.4	-	21	2846	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N	COPB2_uc011bmv.2_Missense_Mutation_p.D877N|COPB2_uc010hui.3_Missense_Mutation_p.D877N	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	906					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.D906G(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TACAGTCAATCATCCAAAATA	0.338000														7			5		0	0	0.000602	0	0
GTPBP1	9567	broad.mit.edu	37	22	39117758	39117758	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39117758T>C	uc003awg.3	+	4	1000	c.846T>C	c.(844-846)aaT>aaC	p.N282N		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	282					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGGCAGCAATGCTGGCATCG	0.532000														36			16		0	0	0.003163	0	0
ADAM10	102	broad.mit.edu	37	15	59009855	59009855	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:59009855G>A	uc002afd.1	-	1	571	c.127C>T	c.(127-129)Cac>Tac	p.H43Y	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	43					Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGTTTTTGGTGTAATGAATCC	0.333000														16			9		0	0	0.004482	0	0
BMP5	653	broad.mit.edu	37	6	55684473	55684473	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:55684473G>A	uc003pcq.3	-	1	1375	c.663C>T	c.(661-663)atC>atT	p.I221I	BMP5_uc011dxf.2_Silent_p.I221I	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	221					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCCTTGATGATTTGATATA	0.328000														26			40		0	0	0.006999	0	0
UTRN	7402	broad.mit.edu	37	6	144820410	144820410	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:144820410G>A	uc003qkt.3	+	32	4703	c.4611G>A	c.(4609-4611)caG>caA	p.Q1537Q		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1537	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGGAAAACAGGATCTGGAAA	0.438000														13			22		0	0	0.004656	0	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	T	T	rs150656642		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:21221024C>T	uc010bwn.1	-	3	457	c.375G>A	c.(373-375)ccG>ccA	p.P125P	ZP2_uc002dii.2_Silent_p.P86P|ZP2_uc010bwo.3_Silent_p.P125P	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	86					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGTGCAGTTCGGCATGTCGA	0.498000														50			33		0	0	0.004289	0	0
STC2	8614	broad.mit.edu	37	5	172755148	172755149	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:172755148_172755149CC>TT	uc003mco.1	-	0	1358_1359	c.48_49GG>AA	c.(46-51)ttggcc>ttAAcc	p.A17T	STC2_uc003mcn.1_5'Flank	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	17					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAAAGGTGGCCAACACCAAAG	0.634000														64			29		0	0	0.004672	0	0
ANO4	121601	broad.mit.edu	37	12	101493412	101493412	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:101493412G>A	uc010svm.1	+	21	2635	c.2063G>A	c.(2062-2064)aGg>aAg	p.R688K	ANO4_uc001thw.2_Missense_Mutation_p.R653K|ANO4_uc001thx.2_Missense_Mutation_p.R688K|ANO4_uc001thy.2_Missense_Mutation_p.R208K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	688						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGACCTGAAAGGAAAATAAGT	0.358000										HNSCC(74;0.22)				29			21		0	0	0.012319	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966225	41966225	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:41966225C>T	uc010skn.2	+	9	1652	c.1644C>T	c.(1642-1644)aaC>aaT	p.N548N	PDZRN4_uc001rmq.4_Silent_p.N290N|PDZRN4_uc009zjz.3_Silent_p.N288N|PDZRN4_uc001rmr.3_Silent_p.N175N	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	548							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CATCCAACAACCATGAGAAGG	0.423000														15			9		0	0	0.006214	0	0
IFNAR2	3455	broad.mit.edu	37	21	34619116	34619116	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:34619116C>T	uc002yrd.3	+	4	643	c.315C>T	c.(313-315)gcC>gcT	p.A105A	IFNAR2_uc002yrb.3_Silent_p.A105A|IFNAR2_uc002yrc.3_Silent_p.A105A|IFNAR2_uc002yre.3_Silent_p.A105A|IFNAR2_uc002yrf.3_Silent_p.A105A|IFNAR2_uc002yri.1_5'Flank|IFNAR2_uc002yrh.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	105					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CACACGAGGCCTATGTCACCG	0.443000														19			7		0	0	0.001984	0	0
REN	5972	broad.mit.edu	37	1	204131262	204131262	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:204131262C>T	uc001haq.2	-	1	172	c.128G>A	c.(127-129)cGa>cAa	p.R43Q		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	43					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGGCTTTCTCGGATTGAGGG	0.567000											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			10		0	0	0.010729	0	0
SALL2	6297	broad.mit.edu	37	14	21993392	21993392	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:21993392G>A	uc001wbe.3	-	1	752	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SALL2_uc010tly.2_Missense_Mutation_p.T155I|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	157							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGTGCAGGGGTCGATTCTGG	0.647000														26			26		0	0	0.003954	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130501	52130501	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:52130501C>T	uc002pxe.3	-	7	1422	c.1283_splice	c.e7-1	p.G428_splice		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	428					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GTTCGATCTCCCTGCAGAAAA	0.567000														29			17		0	0	0.004990	0	0
MAP2	4133	broad.mit.edu	37	2	210559961	210559961	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:210559961C>T	uc002vde.1	+	6	3315	c.3067C>T	c.(3067-3069)Cca>Tca	p.P1023S	MAP2_uc002vdc.1_Missense_Mutation_p.P1023S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P1019S	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1023					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGTTCAGTGCCAGAGATAGC	0.428000														24			17		0	0	0.006122	0	0
SMG8	55181	broad.mit.edu	37	17	57288417	57288417	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:57288417C>T	uc002ixi.3	+	0	1047	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	335					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACCAAGCTTTCGTGTACATAG	0.502000														62			27		0	0	0.007291	0	0
PSAP	5660	broad.mit.edu	37	10	73588778	73588778	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:73588778G>A	uc001jsm.3	-	4	536	c.432C>T	c.(430-432)caC>caT	p.H144H		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	144					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCTCTGCTAGGTGCTTCTGGA	0.572000														57			24		0	0	0.007291	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059122	11059122	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:11059122G>A	uc010hdq.3	+	2	636	c.225G>A	c.(223-225)ggG>ggA	p.G75G		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	75					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.C74C(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCTCTGCGGGAAAAATGGTG	0.607000														33			14		0	0	0.004007	0	0
PTGIS	5740	broad.mit.edu	37	20	48140776	48140776	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:48140776C>T	uc002xut.3	-	6	728	c.674_splice	c.e6-1	p.G225_splice	PTGIS_uc010zyi.2_Splice_Site_p.G86_splice	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	225					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTCCTTGTCCCCTGCAGGGAC	0.602000														37			24		0	0	0.003954	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037156	44037156	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:44037156C>T	uc002xof.3	+	0	528	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	DBNDD2_uc002xnx.3_Missense_Mutation_p.R17W|DBNDD2_uc021wei.1_Missense_Mutation_p.R17W|DBNDD2_uc002xnz.3_Missense_Mutation_p.R17W|DBNDD2_uc002xoa.3_Missense_Mutation_p.R17W|DBNDD2_uc021wej.1_Missense_Mutation_p.R17W|DBNDD2_uc002xob.3_Missense_Mutation_p.R115W|DBNDD2_uc002xoc.3_Missense_Mutation_p.R17W|DBNDD2_uc002xod.3_Missense_Mutation_p.R17W|DBNDD2_uc002xog.3_Missense_Mutation_p.R119W	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	115					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCTCCGCCTTCGGGAGCGGCA	0.552000														45			34		0	0	0.002836	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607623	84607623	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:84607623G>A	uc004amn.3	+	3	2285	c.2238G>A	c.(2236-2238)aaG>aaA	p.K746K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	746						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ATGTTCTAAAGAAGTCCGCAT	0.453000														9			14		0	0	0.006122	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507374	74507374	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:74507374C>T	uc001dfy.4	-	6	1433	c.1241G>A	c.(1240-1242)gGt>gAt	p.G414D	LRRIQ3_uc001dfz.4_Splice_Site	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	414										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAGTTTCATACCAGCTCTTTG	0.363000														54			34		0	0	0.003271	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323205	79323205	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:79323205C>T	uc010mpk.3	-	7	4109	c.3985G>A	c.(3985-3987)Gaa>Aaa	p.E1329K	PRUNE2_uc022bih.1_Missense_Mutation_p.E1151K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1329					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCCTGGGCTTCCTTCTCACTT	0.527000														16			20		0	0	0.012319	0	0
ATP2A2	488	broad.mit.edu	37	12	110783854	110783854	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:110783854C>T	uc001tqk.4	+	18	3353	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	ATP2A2_uc001tql.4_Silent_p.I930I|ATP2A2_uc021rdt.1_Silent_p.I778I|ATP2A2_uc001tqn.4_Silent_p.I7I|ATP2A2_uc009zvn.3_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	930					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GGGAGAACATCTGGCTCGTGG	0.597000														62			31		0	0	0.012213	0	0
ACSM3	6296	broad.mit.edu	37	16	20781570	20781570	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:20781570G>A	uc010vba.2	+	0	265	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ACSM3_uc002dhq.3_Missense_Mutation_p.E72K|ACSM3_uc002dhr.3_Missense_Mutation_p.E72K	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	72					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GACTGATAAGGAAAAGGTATG	0.418000														14			9		0	0	0.004482	0	0
NRK	203447	broad.mit.edu	37	X	105152852	105152852	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:105152852C>T	uc004emd.3	+	12	1522	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	NRK_uc010npc.1_Nonsense_Mutation_p.Q75*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	407	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAGGCACTTCAGCAGCTACA	0.582000										HNSCC(51;0.14)				10			35		0	0	0.005524	0	0
ITGB7	3695	broad.mit.edu	37	12	53594079	53594079	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:53594079G>A	uc009zmv.3	-	1	220	c.149C>T	c.(148-150)tCc>tTc	p.S50F	ITGB7_uc001scc.3_Missense_Mutation_p.S50F|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_Missense_Mutation_p.S50F	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	50					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTGGCAGGAGGGGGCTGG	0.552000														28			16		0	0	0.002299	0	0
ZAN	7455	broad.mit.edu	37	7	100349677	100349677	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:100349677C>T	uc003uwj.3	+	13	2114	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	ZAN_uc003uwk.3_Missense_Mutation_p.S650F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	650	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATTTCCACAGAAAAA	0.522000														70			48		0	0	0.003610	0	0
OPRL1	4987	broad.mit.edu	37	20	62724125	62724125	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:62724125C>T	uc002yic.3	+	2	471	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	OPRL1_uc002yid.3_Missense_Mutation_p.L18F|OPRL1_uc021wgs.1_Missense_Mutation_p.L18F|OPRL1_uc002yif.4_Missense_Mutation_p.L18F	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	18					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CGGCAGCCACCTTCAGGGCAA	0.647000														55			28		0	0	0.003755	0	0
MDGA1	266727	broad.mit.edu	37	6	37612346	37612346	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:37612346C>T	uc003onu.1	-	12	3507	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	MDGA1_uc003onv.1_Silent_p.Q45Q	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	776	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAGGGCATTCTGCCGCGTCC	0.567000														26			11		0	0	0.001368	0	0
C6orf25	80739	broad.mit.edu	37	6	31691441	31691441	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:31691441C>T	uc011doc.2	+	1	127	c.87C>T	c.(85-87)gaC>gaT	p.D29D	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Silent_p.D29D|C6orf25_uc003nwk.3_Silent_p.D29D|C6orf25_uc011dod.2_Silent_p.D29D|C6orf25_uc003nwn.3_Silent_p.D29D|C6orf25_uc011doe.2_Silent_p.D29D|C6orf25_uc003nwo.3_Silent_p.D29D	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	29						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						GCCCTGGGGACCGGGTGAATC	0.657000														96			63		0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107717458	107717458	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:107717458G>A	uc010ljo.1	-	16	2139	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	LAMB4_uc003vey.2_Silent_p.S685S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	685	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGACATCTATGGAATATTGTA	0.398000														46			41		0	0	0.008740	0	0
OTOGL	283310	broad.mit.edu	37	12	80770955	80770955	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:80770955G>A	uc001szd.3	+	56	6813	c.6807G>A	c.(6805-6807)agG>agA	p.R2269R	OTOGL_uc021rba.1_Silent_p.R288R|OTOGL_uc009zsg.2_Silent_p.R149R	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CGGTCATAAGGAAACAGGACT	0.333000														26			15		0	0	0.008871	0	0
ZFHX3	463	broad.mit.edu	37	16	72992931	72992931	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:72992931G>A	uc002fck.3	-	1	1787	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	372					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R372*(2)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTTCCATTCGAATGCCACTA	0.537000														70			32		0	0	0.003271	0	0
C15orf33	196951	broad.mit.edu	37	15	49882096	49882096	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:49882096C>T	uc001zxl.2	-	3	508	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	C15orf33_uc001zxm.3_Missense_Mutation_p.E72K	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	72										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GGAACATTTTCCCATAGGTGT	0.308000														34			25		0	0	0.003330	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329731	8329731	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:8329731C>T	uc001qud.1	+	4	527	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTGGAAAATCTCTTCGTAAT	0.358000														126			86		0	0	0.003610	0	0
AIM1L	55057	broad.mit.edu	37	1	26672965	26672965	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:26672965C>T	uc001bmd.4	-	1	334	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 1.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTTCCACTTCCTCTCGACGG	0.542000														18			10		0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9083300	9083300	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9083300C>T	uc002mkp.3	-	0	8719	c.8515G>A	c.(8515-8517)Gct>Act	p.A2839T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2839	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATTGAGTAGCTGTCAGTCTG	0.512000														11			12		0	0	0.010729	0	0
C2CD2	25966	broad.mit.edu	37	21	43309253	43309253	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:43309253G>A	uc002yzw.3	-	13	2313	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	C2CD2_uc002yzs.3_Missense_Mutation_p.P160S|C2CD2_uc002yzt.3_Missense_Mutation_p.P307S|C2CD2_uc002yzu.3_Missense_Mutation_p.P523S|C2CD2_uc002yzv.3_Missense_Mutation_p.P536S	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	691						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGCTCCACGGGGGCACCGTTC	0.597000														21			10		0	0	0.008291	0	0
CNN3	1266	broad.mit.edu	37	1	95367748	95367748	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:95367748C>T	uc001dqz.4	-	3	598	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	CNN3_uc010otv.2_Missense_Mutation_p.E64K|CNN3_uc010otx.2_Intron	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	105	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	p.F104F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TCATTTGCTTCGAATATGTCA	0.383000														38			23		0	0	0.002299	0	0
SLC1A7	6512	broad.mit.edu	37	1	53559150	53559150	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:53559150G>A	uc021onn.1	-	5	948	c.780C>T	c.(778-780)atC>atT	p.I260I	SLC1A7_uc021onm.1_Silent_p.I188I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I260I|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	260						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCACCGCCACGATCTTCATGA	0.632000														15			6		0	0	0.001984	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028629	27028629	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27028629G>A	uc010crt.3	+	37	5359	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	SUPT6H_uc002hby.3_Missense_Mutation_p.E1723K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1723					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACTCCTGGACGAGATGGATCG	0.642000														39			22		0	0	0.003330	0	0
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:97726706C>T	uc021xbo.1	-	6		c.773G>A			GABRR3_uc021xbp.1_Intron	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						GGACTTGTTTCCGTGTTTCCA	0.373000														8			5		0	0	0.000602	0	0
KCNH7	90134	broad.mit.edu	37	2	163253266	163253266	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:163253266C>T	uc002uch.2	-	10	2826	c.2597G>A	c.(2596-2598)aGg>aAg	p.R866K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	866					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCTCTCATGCCTTAGGTTGAA	0.338000														19			7		0	0	0.001984	0	0
DDX18	8886	broad.mit.edu	37	2	118588242	118588242	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:118588242C>T	uc002tlh.1	+	13	2054	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	652							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGAGAAATCCAAAATCTTT	0.403000														57			34		0	0	0.003755	0	0
RPGR	6103	broad.mit.edu	37	X	38129039	38129039	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:38129039T>G	uc004deb.3	-	18	2456	c.2288A>C	c.(2287-2289)aAg>aCg	p.K763T	RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_000328	NP_000319	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA.	763	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATTGTTATTCTTGACAATCTT	0.348000														6			37		0	0	0.006999	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529097	138529097	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138529097G>A	uc011kql.2	-	17	5466	c.5417C>T	c.(5416-5418)tCg>tTg	p.S1806L	KIAA1549_uc011kqi.2_Missense_Mutation_p.S590L|KIAA1549_uc011kqk.2_Missense_Mutation_p.S590L|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1806L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1806						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGCCACCGACGGCATCTC	0.572000			O	BRAF	pilocytic astrocytoma									32			31		0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9058524	9058524	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9058524G>A	uc002mkp.3	-	2	29126	c.28922C>T	c.(28921-28923)tCc>tTc	p.S9641F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9643	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTTCATCGGAGATGTCTAG	0.512000														31			24		0	0	0.003954	0	0
TCRA	0	broad.mit.edu	37	14	23001499	23001499	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:23001499C>T	uc021rqo.1	+	0	50	c.7C>T	c.(7-9)Cta>Tta	p.L3L	TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Intron|TCRA_uc010ajz.1_Intron|TCRA_uc001wfs.2_Intron|TCRA_uc001wft.2_Intron|TCRA_uc001wfu.3_Intron|TCRA_uc001wfv.2_Intron|TCRA_uc001wfw.1_Intron|TCRA_uc001wfx.3_Intron|TCRA_uc001wfy.2_Intron|TCRA_uc001wfz.1_Intron|TCRA_uc001wgb.3_Intron|TCRA_uc001wgc.2_Intron|TCRA_uc001wge.4_5'Flank|TCRA_uc021rqp.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																		GACTATGCTTCTAGTCTCTCC	0.433000														10			6		0	0	0.001984	0	0
ZNF530	348327	broad.mit.edu	37	19	58118305	58118305	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58118305C>T	uc002qpk.2	+	2	1632	c.1412C>T	c.(1411-1413)tCa>tTa	p.S471L	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGAAAAATCATTTAGTTGC	0.418000														31			17		0	0	0.008871	0	0
ACSM1	116285	broad.mit.edu	37	16	20696634	20696634	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:20696634G>A	uc002dhm.1	-	1	352	c.284C>T	c.(283-285)aCc>aTc	p.T95I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.T95I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	95					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TACACGGCGGGTTAGGTCTCC	0.557000														65			47		0	0	0.003610	0	0
KRT10	3858	broad.mit.edu	37	17	38975816	38975816	+	Silent	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:38975816C>A	uc002hvi.3	-	5	1352	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	442	Coil 2.|Gly-rich.|Rod.		L -> Q (in BCIE; dbSNP:rs58026994).		epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTCATTCTCCAGTCGGATCT	0.408000														51			66		5.40308e-56	5.94501e-56	0.003610	1	0
MUC4	4585	broad.mit.edu	37	3	195493606	195493606	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:195493606C>T	uc021xjp.1	-	7	13702	c.13546G>A	c.(13546-13548)Gaa>Aaa	p.E4516K	MUC4_uc003fuz.3_Intron|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_Intron|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Intron|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.E25K|MUC4_uc021xjn.1_Missense_Mutation_p.E205K|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.E80K|MUC4_uc021xjj.1_Missense_Mutation_p.E80K|MUC4_uc021xjk.1_Missense_Mutation_p.E257K|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.E280K|MUC4_uc003fvp.3_Missense_Mutation_p.E229K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1273					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGCTGTTTTCGAAATAGCCA	0.547000														25			27		0	0	0.009535	0	0
HSPG2	3339	broad.mit.edu	37	1	22176663	22176663	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:22176663G>A	uc009vqd.3	-	56	7360	c.7320C>T	c.(7318-7320)gtC>gtT	p.V2440V	HSPG2_uc001bfj.3_Silent_p.V2439V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2439	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCGATCCGGACCGTGGGGG	0.632000														56			28		0	0	0.007291	0	0
FHDC1	85462	broad.mit.edu	37	4	153897236	153897236	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:153897236C>T	uc003inf.2	+	10	2868	c.2793C>T	c.(2791-2793)ccC>ccT	p.P931P		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	931					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCAGAATCCCCCCAGCAGCA	0.672000														16			6		0	0	0.001168	0	0
PIPOX	51268	broad.mit.edu	37	17	27380587	27380587	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27380587C>T	uc002hdr.1	+	3	960	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	212					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCTCCTCCGTCCCCTGGGCAT	0.552000														38			17		0	0	0.006122	0	0
ITLN1	55600	broad.mit.edu	37	1	160853271	160853271	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:160853271G>A	uc001fxc.3	-	2	220	c.104C>T	c.(103-105)cCa>cTa	p.P35L		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	35	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGGCAGAGATGGAGACGAAGA	0.443000														90			29		0	0	0.005524	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7998817	7998817	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:7998817C>T	uc001aot.3	-	3	433	c.172G>A	c.(172-174)Gga>Aga	p.G58R		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	58					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTTTGTCCACCTGCGCTG	0.413000														103			62		0	0	0.003610	0	0
A2ML1	144568	broad.mit.edu	37	12	8995903	8995903	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:8995903T>A	uc001quz.4	+	11	1520	c.1422T>A	c.(1420-1422)taT>taA	p.Y474*	A2ML1_uc001qva.1_Nonsense_Mutation_p.Y54*|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	318						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGTGGATTATTACATCGACC	0.572000														38			28		0	0	0.009535	0	0
CARD6	84674	broad.mit.edu	37	5	40852466	40852466	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:40852466C>T	uc003jmg.3	+	2	1107	c.1032C>T	c.(1030-1032)atC>atT	p.I344I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	344					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGGATTCAATCCTCAGTCACA	0.468000														27			12		0	0	0.001368	0	0
HGFAC	3083	broad.mit.edu	37	4	3451138	3451138	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:3451138C>T	uc003ghc.3	+	13	1963	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S	HGFAC_uc010icw.3_Missense_Mutation_p.P661S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	654					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCTTGTGGCTCCCTCCTGACC	0.647000														17			10		0	0	0.006214	0	0
DMKN	93099	broad.mit.edu	37	19	36003654	36003654	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:36003654A>G	uc002nzm.4	-	1	648	c.465T>C	c.(463-465)ggT>ggC	p.G155G	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Silent_p.G155G|DMKN_uc002nzn.4_Silent_p.G155G|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Silent_p.G155G|DMKN_uc002oaa.4_Silent_p.G155G|DMKN_uc002oab.4_Silent_p.G155G|DMKN_uc002oac.4_Silent_p.G155G	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	155	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCAAGGCCACCTTGAGAGC	0.572000														28			15		0	0	0.002450	0	0
POTEE	445582	broad.mit.edu	37	2	131976120	131976120	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:131976120C>T	uc002tsn.2	+	0	197	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	49							ATP binding										TTCTGGAGACCACGACGACTC	0.602000														158			89		0	0	0.003610	0	0
TYR	7299	broad.mit.edu	37	11	88911295	88911296	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:88911295_88911296CC>TT	uc001pcs.3	+	0	256_257	c.174_175CC>TT	c.(172-177)atcctt>atTTtt	p.L59F		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	59					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L59H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTCAGAATATCCTTCTGTCCAA	0.550000														5			25		0	0	0.004672	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458120	51458120	+	Silent	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:51458120G>T	uc021qxx.1	-	4	1553	c.1041C>A	c.(1039-1041)gcC>gcA	p.A347A	CSRNP2_uc001rxu.2_Silent_p.A347A	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	347					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGTCCAGGCTGGCACTAGAGC	0.582000														47			29		1.13719e-10	1.23358e-10	0.008361	1	0
HEATR8	374977	broad.mit.edu	37	1	55119419	55119419	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:55119419G>A	uc010ooe.1	+	2	1144	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.E274K|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.E274K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	274	Ser-rich.					integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGTTCAAAGGAAACCATGAA	0.478000														34			28		0	0	0.008361	0	0
GALNTL2	117248	broad.mit.edu	37	3	16252733	16252733	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:16252733C>T	uc003car.4	+	4	1657	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	GALNTL2_uc003caq.4_Silent_p.L127L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	394	Catalytic subdomain B.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GTGAAAACCTCGAACTGTCTT	0.532000														26			14		0	0	0.001855	0	0
ISM2	145501	broad.mit.edu	37	14	77948836	77948836	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:77948836C>T	uc001xtz.3	-	3	876	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Missense_Mutation_p.E180K	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	268						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						tcctccttttcctcccccttc	0.567000														27			28		0	0	0.004656	0	0
WDR19	57728	broad.mit.edu	37	4	39230141	39230141	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:39230141C>T	uc003gtv.3	+	16	1967	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	WDR19_uc011byi.2_Missense_Mutation_p.P445S|WDR19_uc003gtw.1_Missense_Mutation_p.P202S	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	605					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CACCAAAGTTCCTTTTGCTCA	0.408000														38			20		0	0	0.012319	0	0
RFX1	5989	broad.mit.edu	37	19	14094355	14094356	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:14094355_14094356GG>AC	uc002mxv.3	-	2	643_644	c.371_372CC>GT	c.(370-372)acc>aGT	p.T124S	RFX1_uc010dzi.2_Missense_Mutation_p.T124S	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	124					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TCTGGCTGGCGGTGGAGCCGGG	0.698000														18			8		0	0	0.004672	0	0
OR2T2	401992	broad.mit.edu	37	1	248616210	248616210	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248616210G>A	uc001iek.1	+	0	112	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTTTGTGGTGGCTATAAC	0.527000														260			67		0	0	0.003610	0	0
HNF1A	6927	broad.mit.edu	37	12	121437150	121437150	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:121437150C>T	uc001tzg.3	+	7	1604	c.1581C>T	c.(1579-1581)acC>acT	p.T527T	HNF1A_uc010szn.2_Silent_p.T527T|HNF1A_uc021rfa.1_Silent_p.T527T|HNF1A_uc021rfb.1_Silent_p.T399T|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	527					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACCGACACCACCAACCTGA	0.677000									Hepatic Adenoma, Familial Clustering of					221			58		0	0	0.003610	0	0
AADACL4	343066	broad.mit.edu	37	1	12704574	12704574	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:12704574C>T	uc001auf.3	+	0	9	c.9C>T	c.(7-9)gtC>gtT	p.V3V		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	3						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ACATGGCTGTCCCCTGGCTAG	0.567000														48			40		0	0	0.011902	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815820	179815820	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:179815820G>A	uc001gnl.3	-	6	1613	c.799C>T	c.(799-801)Cca>Tca	p.P267S	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P267S	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	267						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTGGCCTGGAAATTTATCT	0.493000														100			22		0	0	0.002780	0	0
C15orf23	90417	broad.mit.edu	37	15	40675049	40675049	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:40675049G>A	uc001zll.3	+	0	128	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	C15orf23_uc001zlo.3_Missense_Mutation_p.E5K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.E5K	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	5						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GGCGGCTCCCGAAGCCCCGCC	0.582000														13			13		0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82585057	82585057	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:82585057C>T	uc003uhx.2	-	4	5501	c.5212G>A	c.(5212-5214)Gat>Aat	p.D1738N	PCLO_uc003uhv.2_Missense_Mutation_p.D1738N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1669					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTCCTCATCAAGTGATGAT	0.502000														145			105		0	0	0.003610	0	0
GJA8	2703	broad.mit.edu	37	1	147381370	147381370	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:147381370G>A	uc021ovm.1	+	0	1288	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	GJA8_uc001epu.2_Missense_Mutation_p.D430N	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	430					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAGGTCAGACGATCTAACCGT	0.493000														49			25		0	0	0.004656	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733114	56733114	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56733114C>T	uc002qmq.3	-	4	1487	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.E324K|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.E441K|ZSCAN5A_uc002qms.1_Missense_Mutation_p.E440K	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	441					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTTTACATTCGAAGGGCTTC	0.532000														26			21		0	0	0.002299	0	0
HNF4A	3172	broad.mit.edu	37	20	43057089	43057089	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:43057089G>A	uc002xma.3	+	8	1333	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	HNF4A_uc002xlu.3_Missense_Mutation_p.G393E|HNF4A_uc002xlv.3_Missense_Mutation_p.G393E|HNF4A_uc010ggq.3_Missense_Mutation_p.G408E|HNF4A_uc002xlz.3_Missense_Mutation_p.G415E	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	415					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTCAGCAACGGACAGATGTGT	0.587000														162			101		0	0	0.003610	0	0
DHRSX	207063	broad.mit.edu	37	X	2343329	2343330	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:2343329_2343330AG>CA	uc004cqf.4	-	1	174_175	c.125_126CT>TG	c.(124-126)cct>cTG	p.P42L		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	42							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CGACACGGTCAGGTCGTGGGGG	0.450000														55			56		0	0	0.004672	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350476	51350476	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:51350476C>T	uc001zyy.3	-	2	581	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	161										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTGTGGGCTTCCTTCTTGTTG	0.463000														126			62		0	0	0.003610	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727633	42727633	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:42727633G>A	uc003clv.1	+	0	623	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	175	BACK.									breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACTCTCGGCCGACGAGCTCAT	0.677000														8			7		0	0	0.001984	0	0
POFUT2	23275	broad.mit.edu	37	21	46685454	46685454	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:46685454G>A	uc002zhc.3	-	8	1258	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_3'UTR	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	411					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTCTCCGCAGAACCTGTTGT	0.557000														42			27		0	0	0.006320	0	0
PFAS	5198	broad.mit.edu	37	17	8158942	8158942	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:8158942C>T	uc002gkr.3	+	4	648	c.507C>T	c.(505-507)ccC>ccT	p.P169P	PFAS_uc010vuv.2_Intron	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	169					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGCCGGAACCCCTCAATGGCC	0.597000														22			18		0	0	0.007413	0	0
TBC1D15	64786	broad.mit.edu	37	12	72266708	72266708	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:72266708G>A	uc001swu.3	+	3	205	c.130_splice	c.e3-1	p.D44_splice	TBC1D15_uc009zrv.2_Splice_Site|TBC1D15_uc001sww.3_Splice_Site|TBC1D15_uc010stt.2_Splice_Site_p.D52_splice|TBC1D15_uc001swv.3_Splice_Site_p.D44_splice	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	44							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTTCTCTAGGATGCCGAAG	0.294000														75			48		0	0	0.003610	0	0
LGR6	59352	broad.mit.edu	37	1	202287996	202287996	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:202287996G>A	uc001gxu.3	+	17	2565	c.2565G>A	c.(2563-2565)gcG>gcA	p.A855A	LGR6_uc001gxv.3_Silent_p.A803A|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.A716A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	855						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCTATGCTGCGGCCGGGGAGC	0.632000														93			52		0	0	0.003610	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276522	47276522	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:47276522C>T	uc001cqn.4	+	1	307	c.223C>T	c.(223-225)Cac>Tac	p.H75Y	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.H75Y|CYP4B1_uc009vym.3_Missense_Mutation_p.H75Y|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	75					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTCCTGGGCCCACCAGTTCCC	0.562000														32			10		0	0	0.006214	0	0
ZNF768	79724	broad.mit.edu	37	16	30536347	30536347	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:30536347G>A	uc002dyk.4	-	1	1290	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	ZNF768_uc010vex.2_Missense_Mutation_p.P341S|ZNF768_uc010vew.2_Missense_Mutation_p.P341S	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	372					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CAGCTGTAGGGCCGCTCGTGG	0.632000														15			7		0	0	0.001984	0	0
PFKFB1	5207	broad.mit.edu	37	X	54960284	54960284	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:54960284C>T	uc004dty.1	-	12	1397	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	PFKFB1_uc010nkd.1_Silent_p.E250E|PFKFB1_uc011mol.1_Silent_p.E377E	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	442	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGTTCACGGCCTCCACATTCA	0.542000														6			50		0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48690561	48690561	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48690561G>A	uc003cuf.1	-	11	5718	c.5718C>T	c.(5716-5718)ctC>ctT	p.L1906L	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.L1836L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1836	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCCAGAAGGAGATGGGAAG	0.627000														39			19		0	0	0.008871	0	0
COL20A1	57642	broad.mit.edu	37	20	61929325	61929325	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:61929325C>T	uc011aau.2	+	2	246	c.146C>T	c.(145-147)tCg>tTg	p.S49L		NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	49	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity	p.S49S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGGAGAGAGTCGGAGGGGAGC	0.637000														35			16		0	0	0.012319	0	0
SALL1	6299	broad.mit.edu	37	16	51175240	51175240	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51175240C>T	uc021tif.1	-	1	924	c.602G>A	c.(601-603)gGa>gAa	p.G201E	SALL1_uc021tid.1_Missense_Mutation_p.G201E|SALL1_uc021tie.1_Missense_Mutation_p.G298E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	298					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGTGCCAATCCAGCTGCTGC	0.517000														71			38		0	0	0.004878	0	0
DCHS2	54798	broad.mit.edu	37	4	155253658	155253660	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:155253658_155253660TC>CT	uc003inw.2	-	8	2203_2205	c.2203_2205GA>AG	c.(2203-2205)gga>AG	p.G735del	DCHS2_uc003inx.2_Missense_Mutation_p.G1234del	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	735	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAAGAATTTTCCATCAGACAAA	0.384000														37			23		0	0	0.004672	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184679	130184679	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:130184679G>A	uc009zyl.1	-	1	972	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	215						integral to membrane		p.S215F(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGTCCACGGACTTCCTCCT	0.687000														26			42		0	0	0.007835	0	0
VPS13C	54832	broad.mit.edu	37	15	62228933	62228933	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:62228933T>A	uc002agz.3	-	47	5709	c.5618A>T	c.(5617-5619)gAt>gTt	p.D1873V	VPS13C_uc002aha.3_Missense_Mutation_p.D1830V|VPS13C_uc002ahb.2_Missense_Mutation_p.D1873V|VPS13C_uc002ahc.2_Missense_Mutation_p.D1830V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1873					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTCAAGTCATCTTCACTGAG	0.353000														15			15		0	0	0.006122	0	0
CXorf41	139212	broad.mit.edu	37	X	106456205	106456205	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:106456205G>A	uc004end.3	+	2	437	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	CXorf41_uc004enc.3_Missense_Mutation_p.A34T	NM_001169154	NP_775765	Q9NQM4	CX041_HUMAN	Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA.	34										haematopoietic_and_lymphoid_tissue(1)|lung(5)	6						AGCTCTGGAAGCCCTCTCTAA	0.358000														8			42		0	0	0.003610	0	0
SERPINB13	5275	broad.mit.edu	37	18	61259698	61259698	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:61259698C>T	uc010xep.2	+	3	537	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SERPINB13_uc002ljc.3_Silent_p.Y114Y|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_Intron|SERPINB13_uc010xer.2_Intron	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	114					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAAAAACATACCTCTTCCTTC	0.408000														20			16		0	0	0.008871	0	0
PLEC	5339	broad.mit.edu	37	8	145003683	145003683	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145003683G>C	uc003zaf.1	-	23	3561	c.3391C>G	c.(3391-3393)Ctg>Gtg	p.L1131V	PLEC_uc003zab.1_Missense_Mutation_p.L994V|PLEC_uc003zac.1_Missense_Mutation_p.L998V|PLEC_uc003zad.2_Missense_Mutation_p.L994V|PLEC_uc003zae.1_Missense_Mutation_p.L962V|PLEC_uc003zag.1_Missense_Mutation_p.L972V|PLEC_uc003zah.2_Missense_Mutation_p.L980V|PLEC_uc003zaj.2_Missense_Mutation_p.L1021V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1131	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCAGCTGCAGCCGGATGTCT	0.672000														12			21		0	0	0.012319	0	0
CD300LG	146894	broad.mit.edu	37	17	41939261	41939261	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:41939261G>A	uc002iem.3	+	6	1050	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	327						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGGGCTTCTCGAAGTTTGTCT	0.607000														19			16		0	0	0.006122	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552728	173552728	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:173552728C>T	uc001giz.2	-	5	980	c.557G>A	c.(556-558)gGa>gAa	p.G186E	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	186					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CAATGATTCTCCTCTAATGAG	0.318000														46			59		0	0	0.003610	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964377	7964377	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:7964377G>A	uc002mir.3	+	2	1071	c.970G>A	c.(970-972)Gga>Aga	p.G324R		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	324						integral to membrane		p.Y323C(2)|p.G324*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GTGCATCTACGGACTTACCTG	0.582000														27			22		0	0	0.012319	0	0
PM20D1	148811	broad.mit.edu	37	1	205819062	205819062	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:205819062C>T	uc001hdj.3	-	0	215	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	47						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCGACGCGTTCCTCTTTGCTG	0.592000														85			20		0	0	0.012319	0	0
REEP5	7905	broad.mit.edu	37	5	112222849	112222849	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:112222849C>T	uc003kqe.1	-	3	527	c.383G>A	c.(382-384)aGc>aAc	p.S128N	SRP19_uc011cvu.2_Intron|REEP5_uc011cvw.1_Missense_Mutation_p.S101N|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Non-coding_Transcript	NM_005669	NP_005660	Q00765	REEP5_HUMAN	Homo sapiens receptor accessory protein 5 (REEP5), mRNA.	128						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		ATTAGAAGGGCTCGGGGCCAT	0.537000														18			17		0	0	0.006122	0	0
AQP4	361	broad.mit.edu	37	18	24436411	24436411	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:24436411C>T	uc002kwa.3	-	4	799	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	AQP4_uc002kvz.3_Missense_Mutation_p.G224S	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	246				G -> A (in Ref. 1; AAC52112).	cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCATAAAGGCCACCAGCGAGG	0.433000														64			43		0	0	0.006999	0	0
CACNA1F	778	broad.mit.edu	37	X	49088167	49088167	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:49088167C>T	uc004dnb.3	-	1	310	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CACNA1F_uc010nip.3_Missense_Mutation_p.R83Q	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	83					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R82*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GATGCAGGACCGTCGCAGAGG	0.607000														7			55		0	0	0.003610	0	0
ODZ1	10178	broad.mit.edu	37	X	123554600	123554600	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:123554600G>A	uc010nqy.3	-	24	4607	c.4543C>T	c.(4543-4545)Ctc>Ttc	p.L1515F	ODZ1_uc011muj.2_Missense_Mutation_p.L1514F|ODZ1_uc004euj.3_Missense_Mutation_p.L1508F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1508					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCCACATAGAGGGTTCCATCA	0.473000														16			85		0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152324979	152324979	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152324979G>A	uc001ezw.4	-	2	5356	c.5283C>T	c.(5281-5283)tcC>tcT	p.S1761S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1761							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAACTATGGATTCTGACT	0.498000														216			167		0	0	0.003610	0	0
SEPT5	5413	broad.mit.edu	37	22	19709347	19709347	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:19709347G>A	uc002zpv.2	+	9	942	c.817G>A	c.(817-819)Gag>Aag	p.E273K	SEPT5_uc002zpw.1_Intron|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	273					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CCCCGCAGTGGAGAACCAGGC	0.632000														40			20		0	0	0.002299	0	0
C8B	732	broad.mit.edu	37	1	57431619	57431619	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57431619C>T	uc001cyp.3	-	0	70	c.3G>A	c.(1-3)atG>atA	p.M1I	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	1					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGAATTCTTCATTTTCCCAA	0.542000														38			40		0	0	0.007835	0	0
PARD3B	117583	broad.mit.edu	37	2	206480476	206480477	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:206480476_206480477AC>TT	uc002var.2	+	22	3764_3765	c.3557_3558AC>TT	c.(3556-3558)gac>gTT	p.D1186V	PARD3B_uc002vao.2_Missense_Mutation_p.D1085V|PARD3B_uc002vap.2_Missense_Mutation_p.D1124V|PARD3B_uc002vaq.2_Missense_Mutation_p.D1117V	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1186					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGCAGCCCAGACCAGTACCCTT	0.619000														52			33		0	0	0.004672	0	0
ELMO2	63916	broad.mit.edu	37	20	45003020	45003020	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:45003020G>A	uc010zxr.1	-	15	1476	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	ELMO2_uc010zxq.1_Silent_p.A142A|ELMO2_uc002xrs.1_Silent_p.A157A|ELMO2_uc002xrt.1_Silent_p.A410A|ELMO2_uc002xru.1_Silent_p.A410A|ELMO2_uc010zxs.1_Silent_p.A227A|ELMO2_uc002xrv.1_Silent_p.A129A|ELMO2_uc002xrw.3_Silent_p.A227A	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	410	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGAGCTCAATGGCACTGCGGC	0.507000														59			25		0	0	0.006320	0	0
ACTN1	87	broad.mit.edu	37	14	69341639	69341639	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:69341639G>A	uc001xkl.3	-	20	2926	c.2616C>T	c.(2614-2616)tcC>tcT	p.S872S	ACTN1_uc001xkk.3_Silent_p.S468S|ACTN1_uc010ttb.2_Silent_p.S802S|ACTN1_uc001xkm.3_Silent_p.S894S|ACTN1_uc001xkn.3_Silent_p.S867S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	872					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.S872S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CACCTGGCACGGAGTCGGGGC	0.667000														23			11		0	0	0.010729	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139115	178139115	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:178139115G>A	uc003mjj.3	-	4	1962	c.1764C>T	c.(1762-1764)aaC>aaT	p.N588N		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	588					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGACCTATGGTTGAAAAGTT	0.363000														36			19		0	0	0.006122	0	0
SLC5A12	159963	broad.mit.edu	37	11	26705386	26705386	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:26705386G>A	uc001mra.2	-	10	1539	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	409					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGCTGAGGGAAGCCTGTGG	0.517000														5			5		0	0	0.000602	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307174	120307174	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:120307174C>T	uc001eid.3	-	1	268	c.180G>A	c.(178-180)gaG>gaA	p.E60E	HMGCS2_uc010oxj.2_Silent_p.E60E|HMGCS2_uc021osx.1_5'UTR	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGAAGTAGACCTCCAGGGCCA	0.517000														263			134		0	0	0.003610	0	0
LILRP2	79166	broad.mit.edu	37	19	55221850	55221850	+	RNA	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:55221850G>A	uc002qgs.1	+	0		c.2250G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGCTCAGAACGAGGTGGGGCA	0.637000														14			10		0	0	0.008291	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884172	24884172	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:24884172G>A	uc001wpf.4	+	8	3535	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1073					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGATGGAAAGGCTCCCTGCCA	0.637000														69			34		0	0	0.003271	0	0
DHX57	90957	broad.mit.edu	37	2	39090588	39090588	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:39090588T>C	uc002rrf.3	-	2	397	c.298A>G	c.(298-300)Act>Gct	p.T100A	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.T100A	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	100							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATATGTAGAGTCTGAAGGGGT	0.403000														40			25		0	0	0.005443	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270310	16270310	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:16270310G>A	uc001axl.4	-	9	1691	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	ZBTB17_uc010obs.2_Silent_p.T408T|ZBTB17_uc010obq.2_Silent_p.T402T|ZBTB17_uc010obr.2_Silent_p.T484T	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	484					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGAGGTGGTGAACTGCT	0.677000														13			6		0	0	0.001168	0	0
TIMM21	29090	broad.mit.edu	37	18	71816127	71816127	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:71816127C>T	uc010dqr.1	+	0	382	c.84C>T	c.(82-84)atC>atT	p.I28I	FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	28					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TGCCATACATCGTGCTTAACA	0.458000														133			74		0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22154198	22154198	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:22154198C>T	uc021urr.1	-	3	3787	c.3638G>A	c.(3637-3639)aGa>aAa	p.R1213K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTGTGATATCTAAGGGTTGA	0.373000														36			14		0	0	0.002450	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016791	73016791	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:73016791C>T	uc003dpg.3	+	5	1070	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	357					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GAAGGTGTGTCTGTTCTGCAT	0.522000														16			13		0	0	0.001855	0	0
ACSM5	54988	broad.mit.edu	37	16	20448501	20448501	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:20448501G>A	uc002dhe.3	+	11	1583	c.1436_splice	c.e11+1	p.S479_splice		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	479					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AATTCTTCAAGGTCAAGCTGT	0.488000														91			48		0	0	0.003610	0	0
SLC25A17	10478	broad.mit.edu	37	22	41173122	41173122	+	Silent	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:41173122C>A	uc003azc.3	-	6	755	c.615G>T	c.(613-615)gtG>gtT	p.V205V	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Silent_p.V168V|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Silent_p.V132V	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	205					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						CAATGATGAACACATCCAAGG	0.448000														23			8		3.86212e-05	4.16778e-05	0.008291	1	0
ZNF735	730291	broad.mit.edu	37	7	63680395	63680395	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:63680395G>A	uc011kdn.2	+	3	966	c.966G>A	c.(964-966)gaG>gaA	p.E322E		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATACTGGAGAGAAACCCTACA	0.423000														40			28		0	0	0.010818	0	0
LRP1B	53353	broad.mit.edu	37	2	141260595	141260595	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:141260595C>T	uc002tvj.1	-	53	9571	c.8599G>A	c.(8599-8601)Gga>Aga	p.G2867R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2867	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAAGTCTCCATCACACTGC	0.398000										TSP Lung(27;0.18)				40			15		0	0	0.002450	0	0
CENPI	2491	broad.mit.edu	37	X	100387214	100387214	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:100387214G>A	uc004egx.3	+	12	1593	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	CENPI_uc011mrg.2_Silent_p.K441K|CENPI_uc004egy.3_Silent_p.K441K	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	441					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCCTGTATAAGAGCCTTCCTC	0.398000														25			176		0	0	0.003610	0	0
KDM2B	84678	broad.mit.edu	37	12	121880145	121880145	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:121880145G>A	uc001uat.3	-	18	3203	c.3099C>T	c.(3097-3099)ccC>ccT	p.P1033P	KDM2B_uc010szy.2_Silent_p.P473P|KDM2B_uc001uaq.3_Silent_p.P473P|KDM2B_uc001uar.3_Silent_p.P624P|KDM2B_uc001uas.3_Silent_p.P964P|KDM2B_uc021rfd.1_Silent_p.P964P|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.P1033P|KDM2B_uc001uao.3_Silent_p.P281P|KDM2B_uc010szx.2_Silent_p.P281P|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1033	Pro-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGATACACTTGGGCGGGGACA	0.721000														17			3		0	0	0.004672	0	0
CLIC6	54102	broad.mit.edu	37	21	36081686	36081686	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:36081686G>A	uc010gmt.1	+	5	1803	c.1803G>A	c.(1801-1803)agG>agA	p.R601R	CLIC6_uc002yuf.1_Silent_p.R583R	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	601	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.S601T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AGGCCCTGAGGAAGCTGGATA	0.453000														44			27		0	0	0.009535	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036398	21036398	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:21036398G>A	uc010sil.2	+	10	1609	c.1544G>A	c.(1543-1545)aGa>aAa	p.R515K	SLCO1B3_uc001rek.3_Missense_Mutation_p.R515K|SLCO1B3_uc001rel.3_Missense_Mutation_p.R515K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	515					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTCCAGAACAGAAATTACTCA	0.333000														39			14		0	0	0.006122	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525476	176525476	+	Silent	SNP	C	T	T	rs148899801		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:176525476C>T	uc001gkz.3	+	1	1182	c.18C>T	c.(16-18)atC>atT	p.I6I	PAPPA2_uc001gky.1_Silent_p.I6I|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	6					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.I6I(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTAAAGATCCTAAGAATAA	0.517000														139			37		0	0	0.010771	0	0
CENPE	1062	broad.mit.edu	37	4	104080165	104080165	+	Splice_Site	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:104080165A>G	uc003hxb.1	-	22	2691	c.2601_splice	c.e22+1	p.E867_splice	CENPE_uc003hxc.1_Splice_Site_p.E842_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	867					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTGTACCAACCTCGGTCTT	0.398000														32			14		0	0	0.002450	0	0
MYH7	4625	broad.mit.edu	37	14	23894188	23894188	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:23894188C>T	uc001wjx.3	-	21	2575	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	823			G -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.M822I(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)		AATTCTTGACCCCCATGAAGG	0.547000														48			20		0	0	0.008871	0	0
LILRB3	11025	broad.mit.edu	37	19	54803737	54803737	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:54803737G>A	uc002qfd.3	-	2	179	c.87C>T	c.(85-87)ccC>ccT	p.P29P	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.P29P	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	29					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCAGAGGGTGGGCTTGGGGA	0.577000														58			33		0	0	0.006999	0	0
HPS1	3257	broad.mit.edu	37	10	100195443	100195443	+	Silent	SNP	G	A	A	rs149759513		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:100195443G>A	uc021pwv.1	-	3	450	c.204C>T	c.(202-204)acC>acT	p.T68T	HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Silent_p.T68T|HPS1_uc001kpl.3_Silent_p.T68T	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	68					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCAGGTGTAGGTGTCCGAGA	0.567000									Hermansky-Pudlak syndrome					60			22		0	0	0.010504	0	0
OR5B12	390191	broad.mit.edu	37	11	58206830	58206830	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:58206830G>A	uc010rkh.2	-	0	817	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGCCCATGAAATGGCTGG	0.453000														5			26		0	0	0.005443	0	0
SZT2	23334	broad.mit.edu	37	1	43905671	43905671	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:43905671G>A	uc001cjk.2	+	49	7075	c.4465G>A	c.(4465-4467)Gag>Aag	p.E1489K		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2388						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCATCATCGAGCTTCAGCT	0.547000														51			32		0	0	0.004878	0	0
CDK3	1018	broad.mit.edu	37	17	73998155	73998155	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:73998155C>T	uc002jqg.4	+	5	2083	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	CDK3_uc010dgt.3_Missense_Mutation_p.L83F	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	83	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						GTTTGAGTTCCTCAGCCAGGA	0.572000														28			36		0	0	0.003755	0	0
RGAG1	57529	broad.mit.edu	37	X	109694656	109694656	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:109694656C>T	uc004eor.2	+	2	1057	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	RGAG1_uc011msr.1_Silent_p.L271L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	271										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATATCCTCACTGATAATGTC	0.498000														17			105		0	0	0.003610	0	0
CLN6	54982	broad.mit.edu	37	15	68500587	68500587	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:68500587C>T	uc010ujz.2	-	6	1161	c.923G>A	c.(922-924)tGg>tAg	p.W308*	CALML4_uc002arb.3_5'Flank|CALML4_uc002arc.3_5'Flank|CALML4_uc002ard.3_5'Flank|CALML4_uc002are.3_5'Flank|CALML4_uc010bhz.3_5'Flank|CLN6_uc002arf.3_Nonsense_Mutation_p.W276*|CLN6_uc010ujy.2_Nonsense_Mutation_p.W147*	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	276					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGGCGACCCAGAGCGCCAC	0.602000														66			30		0	0	0.002836	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702137	60702137	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:60702137C>T	uc001nqi.3	+	8	1933	c.1740C>T	c.(1738-1740)caC>caT	p.H580H	TMEM132A_uc001nqj.3_Silent_p.H579H	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	579						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACGTGTCCCACCTCGTGGCGC	0.731000														3			16		0	0	0.004990	0	0
PCGF3	10336	broad.mit.edu	37	4	737340	737340	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:737340C>T	uc011bva.1	+	7	816	c.341C>T	c.(340-342)tCt>tTt	p.S114F	PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Missense_Mutation_p.S114F|PCGF3_uc010ibh.3_Missense_Mutation_p.S114F|PCGF3_uc003gbh.3_Missense_Mutation_p.S80F	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GAGACCTGCTCTGCAAAACAG	0.532000														29			10		0	0	0.001368	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715949	19715949	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:19715949G>A	uc002ykw.3	-	11	1333	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	434	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAATTTATGGACATTTTCAC	0.313000														51			28		0	0	0.010818	0	0
GRM5	2915	broad.mit.edu	37	11	88301112	88301112	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:88301112G>A	uc001pcq.3	-	6	1939	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	GRM5_uc009yvm.3_Missense_Mutation_p.P580L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	580					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCTGCAATGGGTTCAGGGTC	0.488000														6			23		0	0	0.012319	0	0
SENP3	26168	broad.mit.edu	37	17	7466977	7466977	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7466977C>T	uc002ghm.3	+	1	867	c.584C>T	c.(583-585)cCc>cTc	p.P195L	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	195	Poly-Pro.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				CCACCTCCACCCCGGCTGGGT	0.652000														15			13		0	0	0.001368	0	0
USP6	9098	broad.mit.edu	37	17	5064879	5064879	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:5064879G>A	uc002gau.1	+	31	5115	c.2885G>A	c.(2884-2886)gGg>gAg	p.G962E	USP6_uc002gav.1_Missense_Mutation_p.G962E|USP6_uc010ckz.1_Missense_Mutation_p.G645E	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	962					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAAAGATGGGAACTCCTGT	0.368000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									43			27		0	0	0.003271	0	0
MARK1	4139	broad.mit.edu	37	1	220805608	220805608	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:220805608G>A	uc009xdw.3	+	10	1672	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	MARK1_uc001hmn.4_Missense_Mutation_p.D359N|MARK1_uc010pun.2_Missense_Mutation_p.D359N|MARK1_uc001hmm.4_Missense_Mutation_p.D337N	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	359	UBA.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCAGAAGTATGATGAAGTTAT	0.303000														291			72		0	0	0.003610	0	0
NCOA3	8202	broad.mit.edu	37	20	46280002	46280002	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:46280002C>T	uc002xtk.3	+	19	4189	c.3928C>T	c.(3928-3930)Cca>Tca	p.P1310S	NCOA3_uc002xtl.3_Missense_Mutation_p.P1306S|NCOA3_uc002xtn.3_Missense_Mutation_p.P1309S|NCOA3_uc010ght.2_Missense_Mutation_p.P1301S|NCOA3_uc002xtm.3_Missense_Mutation_p.P1305S|NCOA3_uc010zyc.2_Missense_Mutation_p.P1105S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1310					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAACAGTTTCCATATCAACC	0.448000														31			13		0	0	0.003163	0	0
RNF43	54894	broad.mit.edu	37	17	56432331	56432331	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56432331G>A	uc002iwf.3	-	8	4281	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	RNF43_uc010wnv.2_Silent_p.L734L|RNF43_uc002iwh.4_Silent_p.L775L|RNF43_uc002iwg.4_Silent_p.L775L|SUPT4H1_uc002iwe.1_5'Flank	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	775						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCTCCTCGAGTTCCTCCT	0.572000														44			21		0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9003603	9003603	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9003603C>T	uc002mkp.3	-	48	40241	c.40037G>A	c.(40036-40038)aGg>aAg	p.R13346K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R163K|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13348	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGAACTTCCTGGAGCCAGG	0.557000														113			58		0	0	0.003610	0	0
TAPBPL	55080	broad.mit.edu	37	12	6566747	6566747	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:6566747G>A	uc001qog.4	+	3	979	c.741G>A	c.(739-741)caG>caA	p.Q247Q	TAPBPL_uc001qoi.1_Intron	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	Homo sapiens TAP binding protein-like (TAPBPL), mRNA.	247	Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GGCAGGGGCAGGCTGTGCGGA	0.657000														31			10		0	0	0.006214	0	0
DENND5B	160518	broad.mit.edu	37	12	31586121	31586121	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:31586121C>T	uc001rkh.1	-	9	2330	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	DENND5B_uc001rki.1_Missense_Mutation_p.E692K|DENND5B_uc001rkj.3_Missense_Mutation_p.E714K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	692						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCAACATGCTCAGAATGCTGG	0.502000														105			38		0	0	0.006999	0	0
CDKN2C	1031	broad.mit.edu	37	1	51439938	51439938	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:51439938A>G	uc001csf.3	+	2	2478	c.503A>G	c.(502-504)cAa>cGa	p.Q168R	CDKN2C_uc001csg.3_Missense_Mutation_p.Q168R	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	168					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ACAAATCTTCAATAAACGTGG	0.488000			D		"""glioma, MM"""									31			17		0	0	0.006122	0	0
THEMIS	387357	broad.mit.edu	37	6	128134289	128134289	+	Silent	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:128134289C>A	uc011ebt.2	-	3	1646	c.1497G>T	c.(1495-1497)acG>acT	p.T499T	THEMIS_uc010kfa.3_Silent_p.T402T|THEMIS_uc021zfa.1_Silent_p.T499T|THEMIS_uc010kfb.3_Silent_p.T464T	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	499	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				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						CCCAGCACTCCGTGGGGTTGG	0.478000														13			17		5.01169e-05	5.40433e-05	0.004990	1	0
ROR1	4919	broad.mit.edu	37	1	64515362	64515362	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:64515362G>A	uc001dbj.2	+	3	563	c.164_splice	c.e3-1	p.D55_splice	ROR1_uc001dbi.4_Splice_Site_p.D55_splice	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	55	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGTGCTCACAGATTCTTACCT	0.552000														56			36		0	0	0.006230	0	0
EAF2	55840	broad.mit.edu	37	3	121554156	121554156	+	Silent	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121554156A>T	uc003een.3	+	0	123	c.24A>T	c.(22-24)tcA>tcT	p.S8S	IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	8					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CGGGATTCTCACACCTAGACC	0.567000														21			13		0	0	0.001855	0	0
TRIML1	339976	broad.mit.edu	37	4	189065010	189065010	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:189065010G>A	uc003izm.1	+	3	869	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	252					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAGCCCTGGAAAGGTAGGC	0.488000														106			57		0	0	0.003610	0	0
ATP8B3	148229	broad.mit.edu	37	19	1784935	1784935	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:1784935G>A	uc002ltw.3	-	27	3777	c.3543C>T	c.(3541-3543)ctC>ctT	p.L1181L	ATP8B3_uc002ltv.3_Silent_p.L1144L|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1181					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATCACGCTGAGGTCGGCAT	0.632000														14			11		0	0	0.001368	0	0
OR4D2	124538	broad.mit.edu	37	17	56247888	56247888	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56247888A>G	uc010wnp.2	+	0	872	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCCTGAGGAACCAGGACATG	0.517000														134			39		0	0	0.005524	0	0
TCOF1	6949	broad.mit.edu	37	5	149755307	149755307	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:149755307C>T	uc003lry.3	+	11	1836	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	TCOF1_uc003lrw.3_Silent_p.L576L|TCOF1_uc003lrz.3_Silent_p.L576L|TCOF1_uc011dch.2_Silent_p.L576L|TCOF1_uc003lrx.3_Silent_p.L499L|TCOF1_uc003lsa.3_Silent_p.L499L|TCOF1_uc011dci.1_Silent_p.L65L	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	576					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAACATCCTCCAGGCCAAAC	0.562000														98			58		0	0	0.003610	0	0
DYRK3	8444	broad.mit.edu	37	1	206821165	206821165	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:206821165C>T	uc001hej.3	+	2	790	c.622C>T	c.(622-624)Cga>Tga	p.R208*	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Nonsense_Mutation_p.R188*	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	208					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTAGCTTATCGATATGAGGT	0.468000														76			29		0	0	0.006320	0	0
ATG2A	23130	broad.mit.edu	37	11	64669618	64669618	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:64669618G>A	uc001obx.3	-	28	4050	c.3935C>T	c.(3934-3936)tCc>tTc	p.S1312F	ATG2A_uc001obw.3_Missense_Mutation_p.S77F	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1312							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TAGGTAGACGGAGATGGGCGA	0.637000														15			47		0	0	0.013114	0	0
MVP	9961	broad.mit.edu	37	16	29853079	29853079	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:29853079C>T	uc002dui.3	+	8	1506	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.R452W|MVP_uc010vea.2_Missense_Mutation_p.R46W	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	452					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTTGGCGCCCCGGAACAAGAC	0.662000														10			10		0	0	0.008291	0	0
GEMIN5	25929	broad.mit.edu	37	5	154282156	154282156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:154282156G>A	uc003lvx.3	-	19	2892	c.2809C>T	c.(2809-2811)Cag>Tag	p.Q937*	GEMIN5_uc011ddk.1_Nonsense_Mutation_p.Q936*	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	937					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGCAGTCTGGAGAACACCT	0.428000														49			30		0	0	0.010818	0	0
EBF3	253738	broad.mit.edu	37	10	131755553	131755553	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:131755553C>T	uc021qav.1	-	5	582	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	EBF3_uc001lki.2_Missense_Mutation_p.E175K	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	175					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAGGGCGTTTCGTTTCTATTG	0.418000														50			28		0	0	0.002836	0	0
GRID2	2895	broad.mit.edu	37	4	94376916	94376916	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:94376916G>A	uc011cdt.2	+	10	1907	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	GRID2_uc011cdu.2_Missense_Mutation_p.R455Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	550					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R550Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTACTACTTCGAAGGGCTGAA	0.483000														64			30		0	0	0.009535	0	0
PTPN18	26469	broad.mit.edu	37	2	131127711	131127711	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:131127711G>A	uc002trc.3	+	7	738	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PTPN18_uc002trb.3_Missense_Mutation_p.E106K|PTPN18_uc002tre.3_5'Flank	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	213	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CATGGTGGAGGAAGCCCGTCG	0.597000														96			47		0	0	0.003610	0	0
TSPAN14	81619	broad.mit.edu	37	10	82271930	82271930	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:82271930G>T	uc001kcj.4	+	5	588	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	TSPAN14_uc009xss.3_Missense_Mutation_p.D38Y|TSPAN14_uc001kci.4_Missense_Mutation_p.D144Y	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA.	161						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGCCCTGAAGACTGGGACCT	0.592000														44			28		9.80776e-20	1.0751e-19	0.006320	1	0
ARPP21	10777	broad.mit.edu	37	3	35770831	35770831	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:35770831C>T	uc011axy.2	+	12	1372	c.1160C>T	c.(1159-1161)tCg>tTg	p.S387L	ARPP21_uc003cga.3_Missense_Mutation_p.S367L|ARPP21_uc003cgb.3_Missense_Mutation_p.S421L|ARPP21_uc003cgf.3_Missense_Mutation_p.S222L|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	421	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCTCAGGATCGCTGTCCCGC	0.537000														54			30		0	0	0.004289	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812645	49812645	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49812645G>A	uc002pmz.3	-	5	1134	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SLC6A16_uc002pna.3_Silent_p.L300L|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	300						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGAAACAGGGGAGCAGTACCA	0.468000														20			14		0	0	0.003163	0	0
STAT6	6778	broad.mit.edu	37	12	57493858	57493858	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57493858G>A	uc009zpg.3	-	13	1677	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	STAT6_uc009zpe.3_Missense_Mutation_p.R510C|STAT6_uc001sna.3_Missense_Mutation_p.R510C|STAT6_uc009zpf.3_Missense_Mutation_p.R510C|STAT6_uc010srb.2_Missense_Mutation_p.R400C|STAT6_uc010src.2_Missense_Mutation_p.R400C|STAT6_uc010srd.2_Missense_Mutation_p.R400C	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	510	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTGAAGCCACGGCCCAGCAGG	0.622000														5			7		0	0	0.003080	0	0
CYP17A1	1586	broad.mit.edu	37	10	104597062	104597062	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:104597062C>T	uc001kwg.3	-	0	229	c.57G>A	c.(55-57)aaG>aaA	p.K19K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	19					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GGCACCTTCTCTTGGGCCAAA	0.582000														51			32		0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179424178	179424178	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179424178G>A	uc021vsy.1	-	274	79202	c.78977C>T	c.(78976-78978)tCt>tTt	p.S26326F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20021F|TTN_uc021vta.1_Missense_Mutation_p.S19954F|TTN_uc021vtb.1_Missense_Mutation_p.S19829F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27253	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGGTCACAGAGACCCATGC	0.438000														78			34		0	0	0.003271	0	0
TAF5L	27097	broad.mit.edu	37	1	229730347	229730347	+	Silent	SNP	G	A	A	rs145011648	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:229730347G>A	uc001htq.3	-	4	1633	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	489					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TCAACCGCTGGTCCTCGCCAG	0.572000														36			85		0	0	0.003610	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458239	45458239	+	RNA	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:45458239G>A	uc001rol.3	-	0		c.956C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TTTCCACATGGAACATAGAAT	0.463000														5			3		0	0	0.004672	0	0
TP53I13	90313	broad.mit.edu	37	17	27899166	27899166	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27899166G>A	uc002hee.3	+	5	558	c.520G>A	c.(520-522)Gct>Act	p.A174T		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	174						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		TTAGGCCCTGGCTCTGGCCTT	0.647000														25			17		0	0	0.004007	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576568	158576568	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:158576568C>T	uc010pio.2	+	0	340	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L114L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TAACTGCTTCCTTCTGGCTGC	0.557000														109			106		0	0	0.003610	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434869	42434869	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:42434869G>A	uc001zoz.3	-	18	2278	c.2186C>T	c.(2185-2187)cCc>cTc	p.P729L	PLA2G4F_uc010bcq.3_Missense_Mutation_p.P26L|PLA2G4F_uc001zoy.3_Missense_Mutation_p.P361L|PLA2G4F_uc001zpa.3_Missense_Mutation_p.P480L|PLA2G4F_uc010bcr.3_Missense_Mutation_p.P480L|PLA2G4F_uc010bcs.3_Missense_Mutation_p.P516L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	729	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTAGGGAAGGGGATTCCTCG	0.617000														32			20		0	0	0.012319	0	0
ITGAM	3684	broad.mit.edu	37	16	31282368	31282368	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:31282368C>A	uc002ebr.3	+	5	619	c.521C>A	c.(520-522)tCa>tAa	p.S174*	ITGAM_uc002ebq.3_Nonsense_Mutation_p.S174*	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	174	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGTTTGTCTCAACTGTGATG	0.517000														82			57		3.88204e-17	4.2458e-17	0.003610	1	0
DSCAML1	57453	broad.mit.edu	37	11	117342748	117342748	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:117342748G>A	uc001prh.1	-	14	2971	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	930	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAAGTCCCAGGAATCTGGAGA	0.527000														10			36		0	0	0.003755	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141589	103141589	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:103141589G>A	uc002tbz.4	+	9	2382	c.1925G>A	c.(1924-1926)gGt>gAt	p.G642D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	642					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGAGGAAAGGTCACAGCCTG	0.517000														74			40		0	0	0.008740	0	0
LRP1B	53353	broad.mit.edu	37	2	141707969	141707969	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:141707969C>T	uc002tvj.1	-	19	3943	c.2971G>A	c.(2971-2973)Gac>Aac	p.D991N	LRP1B_uc010fnl.1_Missense_Mutation_p.D173N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	991	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D991D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAGTCGTCATCTGGAAAG	0.433000										TSP Lung(27;0.18)				30			18		0	0	0.002780	0	0
TRPC3	7222	broad.mit.edu	37	4	122831542	122831542	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:122831542C>T	uc003ieg.2	-	6	1633	c.1559_splice	c.e6-1	p.G520_splice	TRPC3_uc010inr.2_Splice_Site_p.G392_splice|TRPC3_uc003ief.2_Splice_Site_p.G447_splice|TRPC3_uc011cgl.1_Splice_Site_p.G184_splice	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	435					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCACATCATTCCTGTCACAAC	0.468000														34			16		0	0	0.006122	0	0
AGTR1	185	broad.mit.edu	37	3	148459575	148459575	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:148459575T>A	uc003ewg.3	+	3	1199	c.753T>A	c.(751-753)ttT>ttA	p.F251L	AGTR1_uc003ewh.3_Missense_Mutation_p.F251L|AGTR1_uc003ewi.3_Missense_Mutation_p.F251L|AGTR1_uc003ewj.3_Missense_Mutation_p.F251L|AGTR1_uc003ewk.3_Missense_Mutation_p.F251L|AGTR1_uc021xfj.1_Missense_Mutation_p.F251L	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	251					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCTTTTTCTTTTCCTGGATTC	0.363000														33			25		0	0	0.003330	0	0
CCND1	595	broad.mit.edu	37	11	69456187	69456187	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:69456187G>A	uc001opa.3	+	0	315	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_053056	NP_444284	P24385	CCND1_HUMAN	Homo sapiens cyclin D1 (CCND1), mRNA.	36	Cyclin N-terminal.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to UV-A|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GAAGGCGGAGGAGACCTGCGC	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)				23			59		0	0	0.003610	0	0
AADAC	13	broad.mit.edu	37	3	151535366	151535366	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:151535366G>A	uc003eze.3	+	1	441	c.351G>A	c.(349-351)gtG>gtA	p.V117V	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	117					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCTGGTGCGTGGGAAGTGCTG	0.443000														39			17		0	0	0.007413	0	0
INTS9	55756	broad.mit.edu	37	8	28671062	28671062	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:28671062C>T	uc003xha.3	-	6	855	c.556G>A	c.(556-558)Gag>Aag	p.E186K	INTS9_uc011lav.2_Missense_Mutation_p.E162K|INTS9_uc011law.2_Missense_Mutation_p.E165K|INTS9_uc011lax.2_Missense_Mutation_p.E79K|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	186					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGTTCACCTCTTGCATTGTA	0.413000														24			63		0	0	0.003610	0	0
PCSK2	5126	broad.mit.edu	37	20	17434573	17434574	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:17434573_17434574GG>AA	uc002wpm.3	+	8	1426_1427	c.1072_1073GG>AA	c.(1072-1074)ggg>AAg	p.G358K	PCSK2_uc002wpl.3_Missense_Mutation_p.G339K|PCSK2_uc010zrm.2_Missense_Mutation_p.G323K	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	358	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCAGCAACGGGAGGAAAAGG	0.594000														25			16		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	107048691	107048691	+	RNA	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:107048691G>A	uc021ser.1	-	169		c.7339C>T								Parts of antibodies, mostly variable regions.																		GTAATACACGGCCGTGTCCTC	0.562000														108			85		0	0	0.003610	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287443	29287443	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:29287443G>A	uc001usj.3	-	2	976	c.434C>T	c.(433-435)aCc>aTc	p.T145I	SLC46A3_uc001usg.3_Missense_Mutation_p.T70I|SLC46A3_uc001usi.3_Missense_Mutation_p.T145I|SLC46A3_uc001ush.3_Missense_Mutation_p.T145I|SLC46A3_uc001usk.3_Missense_Mutation_p.T70I	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	145					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCAAAATGTGGTATAATTGCC	0.383000														15			12		0	0	0.003163	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120530	120530	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrGL000209.1:120530C>G	uc010yie.2	+	3	493	c.482C>G	c.(481-483)tCc>tGc	p.S161C	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.S158C|KIR2DL2_uc002qum.3_Missense_Mutation_p.S161C	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	161	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TACCATCTATCCAGGGAAGGG	0.602000														35			50		0	0	0.003610	0	0
ZNF761	388561	broad.mit.edu	37	19	53952800	53952800	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:53952800C>T	uc010eqp.3	+	4	509	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF761_uc002qbr.2_Non-coding_Transcript|ZNF761_uc010ydy.2_5'UTR|ZNF761_uc002qbt.2_5'Flank	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CCATAGAATTCTCTCAGGAGG	0.448000														58			30		0	0	0.009718	0	0
BIK	638	broad.mit.edu	37	22	43524620	43524620	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:43524620C>T	uc003bdk.3	+	3	442	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_001197	NP_001188	Q13323	BIK_HUMAN	Homo sapiens BCL2-interacting killer (apoptosis-inducing) (BIK), mRNA.	127					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				ATCCCCGAACCCCGGGTCCTG	0.577000														49			33		0	0	0.004289	0	0
CELSR3	1951	broad.mit.edu	37	3	48679376	48679377	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48679376_48679377GA>AC	uc003cuf.1	-	33	9025_9026	c.9025_9026TC>GT	c.(9025-9027)tca>GTa	p.S3009V	CELSR3_uc010hkf.3_Missense_Mutation_p.S201V|CELSR3_uc010hkg.3_Missense_Mutation_p.S894V|CELSR3_uc003cul.3_Missense_Mutation_p.S2911V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2911					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCGCTTTCTGAAGATGGAATG	0.599000														20			9		0	0	0.004672	0	0
PIGU	128869	broad.mit.edu	37	20	33169475	33169475	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:33169475C>T	uc002xas.3	-	10	1127	c.927_splice	c.e10-1	p.K309_splice	PIGU_uc010zul.2_Splice_Site_p.K309_splice|PIGU_uc002xat.3_Splice_Site_p.K289_splice	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	309					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATGGGGTGCTCCCTGGGGCAG	0.542000														18			6		0	0	0.001984	0	0
OR2T34	127068	broad.mit.edu	37	1	248737509	248737510	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248737509_248737510AG>CA	uc001iep.1	-	0	549_550	c.549_550CT>TG	c.(547-552)ttctgt>ttTGgt	p.C184G		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F183S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAGTCTCACAGAAAAAACTCA	0.510000														169			83		0	0	0.004672	0	0
AEBP1	165	broad.mit.edu	37	7	44152207	44152207	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:44152207C>T	uc003tkb.3	+	17	2573	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	AEBP1_uc003tkc.4_Silent_p.F331F|AEBP1_uc003tkd.3_Silent_p.F6F	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	756	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAACCCCTTCGTGCTGGGAG	0.642000														57			27		0	0	0.009535	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474984	140474984	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140474984C>T	uc003lil.3	+	0	748	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTGGATCGCGAGGAGCA	0.507000														16			12		0	0	0.010729	0	0
RSPO3	84870	broad.mit.edu	37	6	127517111	127517111	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:127517111C>T	uc003qas.1	+	4	1068	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	RSPO3_uc003qar.3_Nonsense_Mutation_p.Q260*	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	260						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GCGAAAAGTCCAAGATAAACA	0.428000														15			21		0	0	0.002299	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962106	10962106	+	Missense_Mutation	SNP	G	A	A	rs115762530	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:10962106G>A	uc001qyx.3	-	0	662	c.569C>T	c.(568-570)cCc>cTc	p.P190L	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	190					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGATAAAGGGAACCATCAC	0.413000														36			15		0	0	0.004990	0	0
ALK	238	broad.mit.edu	37	2	29451860	29451861	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:29451860_29451861CC>TT	uc002rmy.3	-	15	3656_3657	c.2704_2705GG>AA	c.(2704-2706)gga>AAa	p.G902K		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	902	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAATGTCCTCCGGTGGCACCC	0.619000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					18			4		0	0	0.004672	0	0
CNTN1	1272	broad.mit.edu	37	12	41422941	41422941	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:41422941C>T	uc001rmm.1	+	22	3013	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	CNTN1_uc001rmn.1_Missense_Mutation_p.P956L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	967	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.P967R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTCCCAATCCCCAGAGATGGA	0.443000														54			40		0	0	0.008740	0	0
ASXL3	80816	broad.mit.edu	37	18	31319168	31319168	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:31319168A>G	uc010dmg.1	+	10	1855	c.1800A>G	c.(1798-1800)gaA>gaG	p.E600E	ASXL3_uc002kxq.2_Silent_p.E307E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCCTGAAGAACAGCTTTCAG	0.478000														14			6		0	0	0.001168	0	0
MUC7	4589	broad.mit.edu	37	4	71347158	71347158	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:71347158G>A	uc011cat.2	+	3	985	c.697G>A	c.(697-699)Gag>Aag	p.E233K	MUC7_uc011cau.2_Missense_Mutation_p.E233K|MUC7_uc003hfj.3_Missense_Mutation_p.E233K	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	233	Thr-rich.					extracellular region	protein binding	p.E233*(2)|p.P232Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCAGAGACCACAGC	0.592000														101			43		0	0	0.009718	0	0
TARS2	80222	broad.mit.edu	37	1	150469286	150469286	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:150469286G>A	uc001euq.3	+	9	929	c.922_splice	c.e9-1	p.E308_splice	TARS2_uc010pcd.1_Splice_Site|TARS2_uc001eur.3_Intron|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	308					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGACCCCAGGAACAGGAGCT	0.522000														56			49		0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139606359	139606359	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:139606359C>T	uc003yvd.3	-	62	4963	c.4516G>A	c.(4516-4518)Gga>Aga	p.G1506R	COL22A1_uc011ljo.2_Missense_Mutation_p.G786R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1506	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCATCTTTTCCAGGGGGCCCT	0.647000										HNSCC(7;0.00092)				17			33		0	0	0.004878	0	0
TPRG1	285386	broad.mit.edu	37	3	188956652	188956652	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:188956652C>T	uc003frv.2	+	8	1660	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TPRG1_uc003frw.2_Missense_Mutation_p.R145C	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	145								p.R145C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CGCTGTCTATCGCATCTGCCT	0.498000														48			38		0	0	0.006999	0	0
MSH2	4436	broad.mit.edu	37	2	47710061	47710061	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:47710061C>T	uc002rvy.1	+	15	2846	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MSH2_uc010yoh.1_Silent_p.I860I|MSH2_uc002rvz.3_Intron|MSH2_uc010fbg.2_Silent_p.I736I	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	926					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAATGAAATCATTTCACGAA	0.269000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					21			9		0	0	0.008291	0	0
SPAM1	6677	broad.mit.edu	37	7	123595117	123595117	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:123595117A>G	uc003vle.3	+	3	1460	c.1021A>G	c.(1021-1023)Acc>Gcc	p.T341A	SPAM1_uc011koa.1_5'UTR|SPAM1_uc003vld.3_Missense_Mutation_p.T341A|SPAM1_uc022aks.1_Missense_Mutation_p.T341A|SPAM1_uc003vlf.4_Missense_Mutation_p.T341A|SPAM1_uc010lku.3_Missense_Mutation_p.T341A	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	341					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATATGGGGAACCCTCAGTAT	0.343000														94			63		0	0	0.003610	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348369	30348370	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:30348369_30348370CC>GT	uc002hgu.3	+	0	215_216	c.204_205CC>GT	c.(202-207)gccccg>gcGTcg	p.P69S	LRRC37B_uc010wbx.2_Intron|LRRC37B_uc010csu.3_Missense_Mutation_p.P69S	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	69						integral to membrane		p.P69P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CCCCAGCAGCCCCGGGGGACTT	0.599000														77			37		0	0	0.004672	0	0
FLNC	2318	broad.mit.edu	37	7	128487821	128487821	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:128487821G>A	uc003vnz.4	+	24	4568	c.4359G>A	c.(4357-4359)ctG>ctA	p.L1453L	FLNC_uc003voa.4_Silent_p.L1453L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1453					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.G1452W(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCAGGGCTGGGGGCTGGTG	0.657000														67			52		0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529099	138529099	+	Silent	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138529099C>A	uc011kql.2	-	17	5464	c.5415G>T	c.(5413-5415)ccG>ccT	p.P1805P	KIAA1549_uc011kqi.2_Silent_p.P589P|KIAA1549_uc011kqk.2_Silent_p.P589P|KIAA1549_uc011kqj.2_Silent_p.P1805P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1805						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGCCACCGACGGCATCTCCT	0.577000			O	BRAF	pilocytic astrocytoma									31			30		8.53417e-09	9.25064e-09	0.002836	1	0
DDX60	55601	broad.mit.edu	37	4	169208310	169208310	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:169208310A>T	uc003irp.3	-	9	1520	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	410							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCCAGAGATATTCATAATCT	0.353000														43			18		0	0	0.006122	0	0
CPT1B	1375	broad.mit.edu	37	22	51012817	51012817	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:51012817G>A	uc003bmm.3	-	8	1016	c.917C>T	c.(916-918)tCc>tTc	p.S306F	CPT1B_uc003bmk.4_Missense_Mutation_p.S306F|CPT1B_uc003bml.3_Missense_Mutation_p.S306F|CPT1B_uc003bmo.3_Missense_Mutation_p.S306F|CPT1B_uc011asa.2_Missense_Mutation_p.S272F|CPT1B_uc003bmn.3_Missense_Mutation_p.S306F|CPT1B_uc011asb.2_Missense_Mutation_p.S306F|CPT1B_uc003bmp.3_Missense_Mutation_p.S103F|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATCTGGTAGGAGCACATAGG	0.607000														22			13		0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34189893	34189893	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:34189893G>A	uc001bxm.1	-	18	3082	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.Q929*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	929	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGAGCCTTGAATGAAGCCA	0.562000														23			10		0	0	0.008291	0	0
EVPL	2125	broad.mit.edu	37	17	74011352	74011352	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74011352G>A	uc010wss.1	-	15	2278	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	EVPL_uc002jqi.2_Missense_Mutation_p.P662S|EVPL_uc010wst.1_Missense_Mutation_p.P132S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	662	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTTCAGCAGGGATGGGGGCC	0.687000														8			3		0	0	0.004672	0	0
POU6F2	11281	broad.mit.edu	37	7	39472825	39472825	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:39472825C>T	uc003thb.2	+	7	1319	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	POU6F2_uc022acb.1_Silent_p.I392I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	392	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAACCAGATCCTGCCCGTGA	0.607000														66			52		0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31602309	31602309	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:31602309C>T	uc003nvb.4	+	19	5159	c.4910C>T	c.(4909-4911)cCt>cTt	p.P1637L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P1637L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1637	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCTGAGTCCTTTTGAGGAT	0.572000														14			8		0	0	0.003080	0	0
CASZ1	54897	broad.mit.edu	37	1	10708136	10708136	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:10708136G>A	uc001aro.3	-	15	3539	c.3219C>T	c.(3217-3219)gcC>gcT	p.A1073A	CASZ1_uc001arp.1_Silent_p.A1073A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGCGGCCGAGGCCGGAAAGG	0.667000														1			4		0	0	0.001168	0	0
KDR	3791	broad.mit.edu	37	4	55953871	55953871	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:55953871C>T	uc003has.3	-	26	3867	c.3565G>A	c.(3565-3567)Gat>Aat	p.D1189N	KDR_uc003hat.1_Missense_Mutation_p.D1189N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1189					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTCCAGAATCCTCTTCCATG	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				25			19		0	0	0.010504	0	0
BNIPL	149428	broad.mit.edu	37	1	151015476	151015476	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:151015476G>T	uc001ewl.2	+	4	651	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	BNIPL_uc009wmi.2_Nonsense_Mutation_p.E78*|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	160					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGACAGCTGAAAGGCTGGG	0.542000														157			45		5.34276e-22	5.86979e-22	0.003610	1	0
TINAGL1	64129	broad.mit.edu	37	1	32050548	32050549	+	Nonsense_Mutation	DNP	CC	GT	GT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:32050548_32050549CC>GT	uc001bta.3	+	6	894_895	c.768_769CC>GT	c.(766-771)ccccag>ccGTag	p.Q257*	TINAGL1_uc010ogj.2_Nonsense_Mutation_p.Q226*|TINAGL1_uc010ogk.1_Nonsense_Mutation_p.Q257*|TINAGL1_uc021oko.1_Nonsense_Mutation_p.Q152*	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	257					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCCTGTCGCCCCAGAACCTGCT	0.634000														61			30		0	0	0.004672	0	0
RPH3A	22895	broad.mit.edu	37	12	113266161	113266162	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:113266161_113266162GG>AA	uc010syl.2	+	2	400_401	c.38_39GG>AA	c.(37-39)tgg>tAA	p.W13*	RPH3A_uc001ttz.3_Nonsense_Mutation_p.W13*|RPH3A_uc001tty.3_Nonsense_Mutation_p.W13*|RPH3A_uc009zwe.1_Nonsense_Mutation_p.W13*|RPH3A_uc010sym.2_Nonsense_Mutation_p.W13*	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	13					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCTAACCGTTGGATGTACCCCA	0.475000														67			42		0	0	0.004672	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240254	132240254	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:132240254G>A	uc002tsu.4	+	4	1379	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	396					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.D396N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCATAAGTTCGATCTCATGTA	0.642000														130			33		0	0	0.002836	0	0
CARD14	79092	broad.mit.edu	37	17	78175584	78175584	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:78175584G>A	uc002jxw.1	+	13	2087	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.L631L|CARD14_uc010wud.1_Intron	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	631	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGCAGTCCTGGAGGACACGA	0.587000														74			22		0	0	0.010504	0	0
KIAA1524	57650	broad.mit.edu	37	3	108295144	108295144	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:108295144C>T	uc003dxb.4	-	7	1137	c.868G>A	c.(868-870)Gga>Aga	p.G290R	KIAA1524_uc003dxc.1_Missense_Mutation_p.G131R|KIAA1524_uc010hpw.1_Missense_Mutation_p.G131R	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	290						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATCCTTTCCATTAAGAAGA	0.274000														76			41		0	0	0.003610	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66130697	66130697	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:66130697C>T	uc002jgq.3	+	5		c.9820C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		GGAAGAAGCCCGACTGGCCGT	0.622000														5			5		0	0	0.000602	0	0
FAM135A	57579	broad.mit.edu	37	6	71191749	71191749	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:71191749C>T	uc003pfj.3	+	7	848	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	FAM135A_uc003pfi.3_Missense_Mutation_p.R239C|FAM135A_uc003pfh.3_Missense_Mutation_p.R196C|FAM135A_uc003pfk.3_Missense_Mutation_p.R239C|FAM135A_uc003pfl.3_Missense_Mutation_p.R76C|FAM135A_uc003pfm.1_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	239										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCATGCGTATCGTTTTCATTA	0.388000														15			34		0	0	0.004289	0	0
EXOC3	11336	broad.mit.edu	37	5	454110	454111	+	Silent	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:454110_454111CC>TT	uc003jba.3	+	3	1118_1119	c.990_991CC>TT	c.(988-993)gacctg>gaTTtg	p.330_331DL>DL		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	341					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CATCGGAAGACCTGGAAGCCAA	0.525000														9			9		0	0	0.004672	0	0
RTP2	344892	broad.mit.edu	37	3	187416463	187416463	+	Silent	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:187416463G>C	uc003fro.1	-	1	930	c.501C>G	c.(499-501)ccC>ccG	p.P167P		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	167					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCTTCTCGCTGGGCTTCCAGT	0.647000														23			13		0	0	0.001855	0	0
ACAA1	30	broad.mit.edu	37	3	38173488	38173488	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38173488G>A	uc003cht.3	-	3	539	c.332C>T	c.(331-333)cCg>cTg	p.P111L	ACAA1_uc003chu.3_Missense_Mutation_p.P111L	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	111					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CACAGTCTCCGGGATGTCACT	0.527000											OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			28		0	0	0.010818	0	0
DKK2	27123	broad.mit.edu	37	4	107847039	107847039	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:107847039G>A	uc003hyi.3	-	1	995	c.290C>T	c.(289-291)tCa>tTa	p.S97L	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.S97L	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	97	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGGCCGATGATCCTTGGTG	0.507000														51			35		0	0	0.002836	0	0
YPEL1	29799	broad.mit.edu	37	22	22065004	22065004	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:22065004G>A	uc002zvl.3	-	1	362	c.30C>T	c.(28-30)ttC>ttT	p.F10F	YPEL1_uc002zvm.3_Non-coding_Transcript	NM_013313	NP_037445	O60688	YPEL1_HUMAN	Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA.	10						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GATACGCTTGGAAAGTTTTGG	0.532000														119			50		0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712868	70712868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:70712868G>A	uc010ttg.2	-	0	1651	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CACCTCTTTTGATAGCAGTAG	0.433000														20			17		0	0	0.010504	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784331	140784331	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140784331C>T	uc003lkh.2	+	0	1812	c.1812C>T	c.(1810-1812)ctC>ctT	p.L604L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.L604L	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTTGGCTCTCCTACCGCC	0.617000														50			41		0	0	0.008740	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95519289	95519289	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:95519289C>T	uc010fhp.3	-	1		c.218G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATACCTGTATCAAAGGCGTTC	0.368000														193			65		0	0	0.003610	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705059	52705059	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:52705059C>T	uc001cto.3	+	3	2142	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	ZFYVE9_uc001ctn.3_Missense_Mutation_p.S657F|ZFYVE9_uc001ctp.3_Missense_Mutation_p.S657F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	657					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCTGAGATCTCCACTAGACCA	0.448000														55			29		0	0	0.007291	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218338	130218338	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:130218338C>T	uc004evz.3	+	4	1050	c.705C>T	c.(703-705)atC>atT	p.I235I	ARHGAP36_uc004ewa.3_Silent_p.I223I|ARHGAP36_uc004ewb.3_Silent_p.I204I|ARHGAP36_uc004ewc.3_Silent_p.I99I	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	235	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CGAAACAAATCCCCCAGGTTG	0.458000														7			33		0	0	0.003271	0	0
PTPN9	5780	broad.mit.edu	37	15	75816585	75816585	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:75816585G>A	uc002bal.3	-	2	770	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	88	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTCAGAACGAAGAGGTTCC	0.388000														44			16		0	0	0.010504	0	0
STRN	6801	broad.mit.edu	37	2	37152297	37152297	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:37152297C>T	uc002rpn.3	-	1	298	c.289G>A	c.(289-291)Gat>Aat	p.D97N	STRN_uc010ezx.3_Missense_Mutation_p.D97N	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	97					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTCACAAGATCCTTCTTCAAA	0.373000														115			5		0	0	0.001984	0	0
GPD1	2819	broad.mit.edu	37	12	50501360	50501360	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:50501360C>T	uc001rvz.3	+	5	656	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GPD1_uc001rwa.3_Missense_Mutation_p.A185V	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	208					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AATGTAGTGGCCGTGGGGGCT	0.572000														91			50		0	0	0.003610	0	0
FST	10468	broad.mit.edu	37	5	52778781	52778781	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:52778781G>A	uc003jpd.3	+	1	515	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FST_uc003jpc.3_Missense_Mutation_p.E53K	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	53	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGAGCAAGGAGGAGTGCTG	0.612000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			20		0	0	0.008871	0	0
SMYD1	150572	broad.mit.edu	37	2	88384003	88384003	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:88384003G>A	uc002ssr.3	+	1	391	c.306G>A	c.(304-306)gaG>gaA	p.E102E	SMYD1_uc002ssq.2_Intron|MIR4780_uc021vkp.1_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCCCAATGAGAACATCAGGT	0.507000														24			20		0	0	0.008871	0	0
SHOC2	8036	broad.mit.edu	37	10	112769567	112769567	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:112769567A>T	uc001kzl.4	+	7	1868	c.1519A>T	c.(1519-1521)Act>Tct	p.T507S	SHOC2_uc009xxx.3_Missense_Mutation_p.T507S|SHOC2_uc010qrg.2_Missense_Mutation_p.T146S|SHOC2_uc001kzn.3_Missense_Mutation_p.T461S	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.	507					Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GAACCTACTTACTCACCTTCC	0.398000														36			11		0	0	0.008291	0	0
HRNR	388697	broad.mit.edu	37	1	152191721	152191721	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152191721C>T	uc001ezt.1	-	2	2460	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	795					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCAGACCCGTGTTGGCC	0.602000														78			17		0	0	0.004990	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793412	21793412	+	Missense_Mutation	SNP	G	A	A	rs61751268		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:21793412G>A	uc001wag.3	+	14	2237	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	RPGRIP1_uc001wah.3_Missense_Mutation_p.G388E|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.G221E|RPGRIP1_uc010aim.3_Missense_Mutation_p.G129E|RPGRIP1_uc001wal.3_Missense_Mutation_p.G105E|RPGRIP1_uc001wam.3_Missense_Mutation_p.G63E	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	746			G -> E (in LCA6).		response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAAGAGTTCGGGGTTCTAGAG	0.493000														16			5		0	0	0.003080	0	0
HDAC7	51564	broad.mit.edu	37	12	48181866	48181866	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:48181866C>T	uc010slo.2	-	19	2512	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N	HDAC7_uc001rqe.3_Missense_Mutation_p.D207N|HDAC7_uc001rqj.4_Missense_Mutation_p.D736N|HDAC7_uc001rqk.4_Missense_Mutation_p.D756N|HDAC7_uc010slp.2_5'UTR	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	734	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AAGTTGCCGTCGTCATGGCGA	0.587000														28			23		0	0	0.012319	0	0
C17orf97	400566	broad.mit.edu	37	17	263312	263312	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:263312C>T	uc021tna.1	+	1	694	c.678C>T	c.(676-678)caC>caT	p.H226H	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	226	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AGGGCTTCCACCCCGACCCCG	0.711000														19			18		0	0	0.012319	0	0
ALDOB	229	broad.mit.edu	37	9	104192063	104192063	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:104192063C>T	uc004bbk.2	-	2	380	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	100					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.K99K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATCCCCTTTTCCTTGAGGATG	0.532000														57			79		0	0	0.003610	0	0
SH3TC2	79628	broad.mit.edu	37	5	148420988	148420988	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:148420988G>A	uc003lpu.3	-	5	874	c.722C>T	c.(721-723)cCt>cTt	p.P241L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Intron|SH3TC2_uc010jgx.3_Missense_Mutation_p.P234L|SH3TC2_uc003lpv.1_Intron|SH3TC2_uc011dbz.1_Missense_Mutation_p.P126L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	241							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAAAGGGAGAGGCAG	0.572000														22			9		0	0	0.004482	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662863	662863	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:662863G>A	uc001qii.1	+	13	1774	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	B4GALNT3_uc001qij.1_Missense_Mutation_p.E495K|B4GALNT3_uc001qik.1_Missense_Mutation_p.E141K	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	592						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGGGAGGAGGAAGTGGTGGC	0.617000														23			16		0	0	0.004990	0	0
DCN	1634	broad.mit.edu	37	12	91545483	91545483	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:91545483T>C	uc001tbt.3	-	6	1087	c.833A>G	c.(832-834)aAc>aGc	p.N278S	DCN_uc001tbo.3_Missense_Mutation_p.N169S|DCN_uc001tbp.3_Missense_Mutation_p.N131S|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.N278S	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	278					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AAGCTTGTTGTTGTCCAAGTG	0.488000														19			12		0	0	0.001855	0	0
HNF4A	3172	broad.mit.edu	37	20	43058177	43058177	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:43058177C>T	uc002xma.3	+	9	1386	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S	HNF4A_uc002xlu.3_Missense_Mutation_p.P401S|HNF4A_uc002xlv.3_Missense_Mutation_p.P411S|HNF4A_uc010ggq.3_Missense_Mutation_p.P426S|HNF4A_uc002xlz.3_Missense_Mutation_p.P423S	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	433					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCTGAGACCCCACAGCCCTC	0.612000														250			127		0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	22001175	22001175	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:22001175C>T	uc001rfh.3	-	22	2795	c.2775G>A	c.(2773-2775)atG>atA	p.M925I	ABCC9_uc001rfi.1_Missense_Mutation_p.M925I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	925					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTCAGCTTCCATATCCTGCA	0.428000														34			21		0	0	0.012319	0	0
ZBTB34	403341	broad.mit.edu	37	9	129643035	129643035	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:129643035A>G	uc022bnn.1	+	0	1345	c.1345A>G	c.(1345-1347)Aaa>Gaa	p.K449E	ZBTB34_uc004bqm.4_Missense_Mutation_p.K449E	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GCACTTGCGGAAAAACCACCC	0.527000														13			16		0	0	0.006122	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435975	5435975	+	Silent	SNP	G	A	A	rs142943186	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:5435975G>A	uc001ihy.3	-	3	884	c.846C>T	c.(844-846)atC>atT	p.I282I	TUBAL3_uc001ihz.3_Silent_p.I242I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	282					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGCAGAGACGATGGGGGCGA	0.517000														80			44		0	0	0.003610	0	0
ALS2	57679	broad.mit.edu	37	2	202609105	202609105	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:202609105G>A	uc002uyo.3	-	9	2402	c.2046C>T	c.(2044-2046)gcC>gcT	p.A682A	ALS2_uc002uyp.4_Silent_p.A682A|ALS2_uc002uyq.3_Silent_p.A682A|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	682					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TATCCACCAAGGCTAAATAGC	0.328000														27			11		0	0	0.010729	0	0
CACNG5	27091	broad.mit.edu	37	17	64880763	64880763	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:64880763C>T	uc010wqi.2	+	4	792	c.555C>T	c.(553-555)tcC>tcT	p.S185S	CACNG5_uc010wqj.2_Silent_p.S185S|CACNG5_uc021uby.1_Non-coding_Transcript	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	185					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCGCCATCTCCTTCCTTTTAA	0.562000														64			29		0	0	0.007291	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658238	121658238	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121658238C>T	uc003eep.2	+	19	1957	c.1804C>T	c.(1804-1806)Cca>Tca	p.P602S	SLC15A2_uc011bjn.1_Missense_Mutation_p.P571S	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	602					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGAAGACATTCCAGCCAACAA	0.433000														41			28		0	0	0.010818	0	0
SETD5	55209	broad.mit.edu	37	3	9490114	9490114	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:9490114G>A	uc003brt.3	+	15	2581	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	SETD5_uc003brs.1_Missense_Mutation_p.E697K|SETD5_uc003bru.3_Missense_Mutation_p.E618K|SETD5_uc003brv.3_Missense_Mutation_p.E605K|SETD5_uc010hck.3_Missense_Mutation_p.E198K|SETD5_uc003brx.3_Missense_Mutation_p.E385K	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	716										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGAGAAGCAAGAGTGCCCTGT	0.398000														33			18		0	0	0.008871	0	0
FER1L6	654463	broad.mit.edu	37	8	125047638	125047638	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:125047638G>A	uc003yqw.3	+	18	2613	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	803						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTATGAAGCAGAAATGTCCTC	0.547000														14			39		0	0	0.007835	0	0
CDH10	1008	broad.mit.edu	37	5	24537507	24537507	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:24537507G>A	uc003jgr.2	-	2	1014	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	170	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P170P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GACATTTCGGGAACACTAGCT	0.338000										HNSCC(23;0.051)				71			45		0	0	0.003610	0	0
DDX25	29118	broad.mit.edu	37	11	125791205	125791205	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:125791205A>G	uc001qcz.4	+	10	1462	c.1321A>G	c.(1321-1323)Aaa>Gaa	p.K441E	DDX25_uc010sbk.2_Missense_Mutation_p.K441E	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	441	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CTTTGGGAAAAAAGGCCTTGC	0.488000														3			21		0	0	0.002780	0	0
RAB19	401409	broad.mit.edu	37	7	140125765	140125765	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:140125765G>A	uc010lni.2	+	3	667	c.469G>A	c.(469-471)Gtt>Att	p.V157I	RAB19_uc011krc.1_Missense_Mutation_p.V157I	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	157					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CCTCCTGGCCGTTTTGGAGAC	0.522000														121			95		0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316433	30316433	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:30316433G>A	uc009xle.2	-	2	2781	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	KIAA1462_uc001iux.3_Missense_Mutation_p.R882C|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.R744C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	882										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGTTTCCGCGGAAGCCCACA	0.617000														47			32		0	0	0.012213	0	0
IGSF10	285313	broad.mit.edu	37	3	151171402	151171402	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:151171402C>T	uc011bod.2	-	2	485	c.485G>A	c.(484-486)gGa>gAa	p.G162E		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	162					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGCTGATTTCCTTCCAAGTG	0.408000														42			18		0	0	0.008871	0	0
PANX3	116337	broad.mit.edu	37	11	124481516	124481517	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:124481516_124481517GG>AA	uc001qah.3	+	0	64_65	c.64_65GG>AA	c.(64-66)gga>AAa	p.G22K		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	22					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGACCGCAGGGGACCCCGCCTC	0.609000														9			31		0	0	0.004672	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803067	185803067	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:185803067G>A	uc002uph.3	+	3	3538	c.2944G>A	c.(2944-2946)Gga>Aga	p.G982R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	982						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTTCCACAAGGAAAGATGAA	0.423000														46			25		0	0	0.003954	0	0
GPR158	57512	broad.mit.edu	37	10	25886964	25886965	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:25886964_25886965GG>AA	uc001isj.3	+	10	2469_2470	c.2409_2410GG>AA	c.(2407-2412)aaggag>aaAAag	p.E804K	GPR158_uc001isk.3_Missense_Mutation_p.E179K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	804						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAAATCCAAGGAGGAGACCCT	0.540000														48			24		0	0	0.004672	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264581	61264581	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:61264581G>A	uc010xep.2	+	7	1355	c.1187G>A	c.(1186-1188)aGa>aAa	p.R396K	SERPINB13_uc002ljc.3_Missense_Mutation_p.R387K|SERPINB13_uc002ljd.3_Missense_Mutation_p.R251K|SERPINB13_uc010xeq.2_Missense_Mutation_p.R208K|SERPINB13_uc010xer.2_Missense_Mutation_p.R208K	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	387					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTTCGGCAGATTTTCTTCT	0.418000														44			36		0	0	0.008740	0	0
IRF3	3661	broad.mit.edu	37	19	50165506	50165506	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:50165506C>T	uc002poy.2	-	4	1700	c.681G>A	c.(679-681)cgG>cgA	p.R227R	IRF3_uc021uxp.1_Silent_p.R81R|IRF3_uc021uxq.1_Silent_p.R81R|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Silent_p.R227R|IRF3_uc021uxo.1_Silent_p.R192R|IRF3_uc002pou.3_Silent_p.R227R|IRF3_uc010end.2_Silent_p.R227R|IRF3_uc002poz.1_Silent_p.R227R|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	227	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		ACCCCACCAGCCGCAGGCCCT	0.657000														27			23		0	0	0.003954	0	0
KIF13B	23303	broad.mit.edu	37	8	28980985	28980985	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:28980985C>T	uc003xhh.4	-	27	3436	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1126					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGCGCTTCACGGTCAGCATC	0.493000														81			52		0	0	0.003610	0	0
HSF1	3297	broad.mit.edu	37	8	145537219	145537219	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145537219G>A	uc003zbt.4	+	9	1335	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	389	Hydrophobic repeat HR-C.|Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGACCACTTGGATGCTATGGA	0.632000														4			20		0	0	0.002299	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80203599	80203599	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:80203599G>A	uc001syz.3	-	9	1698	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	PPP1R12A_uc010suc.2_Silent_p.S390S|PPP1R12A_uc001sza.3_Silent_p.S477S|PPP1R12A_uc010sud.2_Silent_p.S477S|PPP1R12A_uc001szb.3_Silent_p.S477S|PPP1R12A_uc001szc.2_Silent_p.S477S	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	477						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCAAAGAGGAGGAAAGTCTGG	0.383000														20			10		0	0	0.008291	0	0
ZNF195	7748	broad.mit.edu	37	11	3381777	3381777	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:3381777G>A	uc001lxt.3	-	5	643	c.461C>T	c.(460-462)aCc>aTc	p.T154I	ZNF195_uc010qxr.2_Missense_Mutation_p.T135I|ZNF195_uc009ydz.3_Missense_Mutation_p.T109I|ZNF195_uc001lxu.3_Missense_Mutation_p.T86I|ZNF195_uc001lxv.3_Missense_Mutation_p.T131I|ZNF195_uc021qck.1_Missense_Mutation_p.T86I|ZNF195_uc001lxs.3_Missense_Mutation_p.T82I	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	154	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGTCTTGGGTAAAATGAGA	0.328000														9			25		0	0	0.003330	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327576	21327576	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:21327576G>A	uc001req.4	+	3	396	c.292G>A	c.(292-294)Gga>Aga	p.G98R		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	98					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.I97T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAAGTTAATTGGAATCGGTTG	0.343000														24			21		0	0	0.012319	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300675	41300675	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:41300675G>A	uc001cgh.2	+	11	1732	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	KCNQ4_uc001cgi.2_Silent_p.K496K	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	550	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGAAATTCAAGGAGACACTGC	0.572000														81			35		0	0	0.003271	0	0
MYOCD	93649	broad.mit.edu	37	17	12647605	12647605	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:12647605G>A	uc002gno.2	+	7	1122	c.823G>A	c.(823-825)Gca>Aca	p.A275T	MYOCD_uc002gnn.2_Missense_Mutation_p.A275T|MYOCD_uc002gnp.1_Missense_Mutation_p.A179T|MYOCD_uc002gnq.2_5'UTR	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	275					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGACCAGAAGGCAGAGAAGTC	0.547000														42			25		0	0	0.004656	0	0
CHML	1122	broad.mit.edu	37	1	241797921	241797921	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:241797921C>T	uc001hzd.3	-	0	1312	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	383					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGGAATTTCTCCTTGGCCATA	0.423000														73			22		0	0	0.010504	0	0
CCR5	1234	broad.mit.edu	37	3	46414630	46414630	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:46414630C>T	uc003cpo.4	+	2	359	c.237C>T	c.(235-237)ttC>ttT	p.F79F	CCR5_uc010hjd.3_Silent_p.F79F|CCR5_uc021wxb.1_Silent_p.F79F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	79					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGTTTTTCCTTCTTACTG	0.483000														131			67		0	0	0.003610	0	0
IRAK3	11213	broad.mit.edu	37	12	66605263	66605263	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:66605263C>T	uc001sth.3	+	4	576	c.474C>T	c.(472-474)atC>atT	p.I158I	IRAK3_uc010ssy.2_Silent_p.I97I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	158					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTCAAAATATCATAGAAGGAA	0.358000														25			11		0	0	0.010729	0	0
LOC338651	338651	broad.mit.edu	37	11	1619092	1619092	+	Missense_Mutation	SNP	G	A	A	rs151223920	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:1619092G>A	uc009ycx.1	+	1	943	c.192G>A	c.(190-192)atG>atA	p.M64I	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_Missense_Mutation_p.S130L					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		GCAGCAGGATGATCCACAGCC	0.637000														34			125		0	0	0.003610	0	0
FGL2	10875	broad.mit.edu	37	7	76828636	76828636	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:76828636C>T	uc003ugb.3	-	0	515	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	159					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCAGCTTCTCCAGGCGACCA	0.378000														53			54		0	0	0.003610	0	0
KAT6B	23522	broad.mit.edu	37	10	76735652	76735652	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:76735652C>T	uc001jwn.1	+	7	2050	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	519	Negatively regulates HAT activity.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTCCCTCTCCCCAGAGTTCTT	0.547000														47			31		0	0	0.010818	0	0
JARID2	3720	broad.mit.edu	37	6	15497063	15497063	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:15497063C>T	uc003nbj.3	+	6	1851	c.1607C>T	c.(1606-1608)cCg>cTg	p.P536L	JARID2_uc011diu.1_Missense_Mutation_p.P400L|JARID2_uc011div.2_Missense_Mutation_p.P364L|JARID2_uc011diw.1_Missense_Mutation_p.P498L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	536					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTGCACAAGCCGCAGGACTCG	0.667000														10			10		0	0	0.008291	0	0
MUC17	140453	broad.mit.edu	37	7	100678076	100678076	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:100678076G>A	uc003uxp.1	+	2	3432	c.3379G>A	c.(3379-3381)Gac>Aac	p.D1127N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1127	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTCGACACCAGCAT	0.517000														422			356		0	0	0.003610	0	0
OR52I2	143502	broad.mit.edu	37	11	4608286	4608286	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:4608286G>A	uc010qyh.2	+	0	266	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATCTGGATGGATTCCACTCG	0.493000														53			139		0	0	0.003610	0	0
CASR	846	broad.mit.edu	37	3	121980560	121980560	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121980560C>T	uc003eew.4	+	3	1116	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CASR_uc003eev.4_Silent_p.F226F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	226					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTGAGAAATTCCGAGAGGAAG	0.522000														79			59		0	0	0.003610	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458531	45458531	+	RNA	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:45458531G>A	uc001rol.3	-	0		c.664C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TGGAGCCAATGGAACGAGTTT	0.493000														21			7		0	0	0.003080	0	0
HSPG2	3339	broad.mit.edu	37	1	22186462	22186462	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:22186462G>A	uc009vqd.3	-	40	5091	c.5051C>T	c.(5050-5052)cCt>cTt	p.P1684L	HSPG2_uc001bfj.3_Missense_Mutation_p.P1683L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1683	Ig-like C2-type 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTTCGAGCAGGATGGACCTC	0.607000														22			9		0	0	0.008291	0	0
FCGBP	8857	broad.mit.edu	37	19	40368399	40368400	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:40368399_40368400CC>TT	uc002omp.4	-	27	12956_12957	c.12948_12949GG>AA	c.(12946-12951)ggggac>ggAAac	p.D4317N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4317						extracellular region	protein binding	p.G4316R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGTCACGGTCCCCACCACCCA	0.609000														206			13		0	0	0.004672	0	0
GDF5	8200	broad.mit.edu	37	20	34022071	34022071	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:34022071C>T	uc010gfc.1	-	1	1383	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	GDF5OS_uc002xcj.3_Missense_Mutation_p.P161L|GDF5_uc002xck.1_Missense_Mutation_p.R381Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	381					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R381L(2)|p.R39S(2)|p.R380Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAGTGGGGCCCGCCGTTTTCG	0.577000														94			41		0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55087289	55087289	+	Missense_Mutation	SNP	G	A	A	rs149720719	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:55087289G>A	uc010ern.3	+	6	1437	c.968G>A	c.(967-969)aGa>aAa	p.R323K	LILRA1_uc002qgg.4_Missense_Mutation_p.R323K|LILRA1_uc002qgf.3_Missense_Mutation_p.R323K|LILRA1_uc010yfe.1_Missense_Mutation_p.R323K|LILRA1_uc010yff.1_Missense_Mutation_p.R311K|LILRA1_uc010ero.3_Missense_Mutation_p.R311K|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	325					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCTATGACAGACCCTCTCTC	0.597000														10			7		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	22	22682096	22682096	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:22682096C>T	uc021wml.1	+	38		c.4172C>T								Parts of antibodies, mostly variable regions.																		ACCTCAGCCTCCCTGGCCATC	0.562000														104			63		0	0	0.003610	0	0
DUS3L	56931	broad.mit.edu	37	19	5789331	5789332	+	Nonsense_Mutation	DNP	GG	AA	AA	rs144731277		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:5789331_5789332GG>AA	uc002mdc.3	-	2	883_884	c.786_787CC>TT	c.(784-789)gcccag>gcTTag	p.Q263*	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	263					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGGACCTGCTGGGCACCACAGT	0.748000														13			6		0	0	0.004672	0	0
ZNF366	167465	broad.mit.edu	37	5	71756135	71756135	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:71756135C>T	uc003kce.1	-	1	1375	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGTCGCACTCGGAGCAGTTG	0.592000														35			14		0	0	0.004007	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753396	18753396	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:18753396G>A	uc003zne.4	+	15	2259	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	703	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			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)		AGAGATGAATGAAACAGTCAT	0.557000														4			5		0	0	0.000602	0	0
FGF21	26291	broad.mit.edu	37	19	49261371	49261371	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49261371C>T	uc002pkn.1	+	3	1096	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.P175L	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	175					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCCGCACTCCCGGAGCCACCC	0.711000														16			13		0	0	0.001855	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219743	4219743	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:4219743G>A	uc010dtt.1	+	18	3435	c.3159G>A	c.(3157-3159)gaG>gaA	p.E1053E		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1053										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGGCCAAGGAGAAGGACAAGA	0.647000														27			15		0	0	0.004007	0	0
ZNF674	641339	broad.mit.edu	37	X	46388340	46388340	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:46388340G>A	uc004dgr.3	-	3	247	c.20C>T	c.(19-21)tCa>tTa	p.S7L	ZNF674_uc011mlg.2_Missense_Mutation_p.S7L|ZNF674_uc022bvl.1_Missense_Mutation_p.S7L|ZNF674_uc010nhm.2_Missense_Mutation_p.S7L	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GAAGGTCAATGATTCCTGTAA	0.552000														7			42		0	0	0.011902	0	0
TEP1	7011	broad.mit.edu	37	14	20846647	20846647	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20846647G>A	uc001vxe.3	-	37	5440	c.5400C>T	c.(5398-5400)ccC>ccT	p.P1800P	TEP1_uc010ahk.3_Silent_p.P1143P|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.P1692P|TEP1_uc010tlh.1_Silent_p.P138P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1800					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCAGGGACTTGGGGTAGGTGT	0.582000														31			10		0	0	0.001368	0	0
PEG3	5178	broad.mit.edu	37	19	57286781	57286781	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57286781C>T	uc002qnr.2	-	10	1241	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.E83K|PEG3_uc010ygq.1_Missense_Mutation_p.E83K|PEG3_uc010etp.2_Missense_Mutation_p.E287K|PEG3_uc010ygs.1_Missense_Mutation_p.E287K|PEG3_uc002qnq.2_Missense_Mutation_p.E287K	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	438					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTCAAATTCATCACTGCCA	0.463000														48			25		0	0	0.005443	0	0
RPAP1	26015	broad.mit.edu	37	15	41815067	41815067	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:41815067G>A	uc001zod.3	-	18	2762	c.2638C>T	c.(2638-2640)Ccc>Tcc	p.P880S		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	880	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGAGACGGGGGCAGCCTCCC	0.632000														17			14		0	0	0.002450	0	0
FLG2	388698	broad.mit.edu	37	1	152328911	152328911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152328911G>A	uc001ezw.4	-	2	1424	c.1351C>T	c.(1351-1353)Caa>Taa	p.Q451*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	451	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAAGTTTGACCTGAGCCA	0.478000														199			41		0	0	0.006999	0	0
ZNF99	7652	broad.mit.edu	37	19	22941813	22941814	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:22941813_22941814GG>AA	uc021urt.1	-	3	1052_1053	c.897_898CC>TT	c.(895-900)cacctt>caTTtt	p.L300F		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTCTAGTAAGGTGTGAGGATT	0.356000														24			14		0	0	0.004672	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76970772	76970772	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76970772T>C	uc002jwh.3	-	3	553	c.374A>G	c.(373-375)aAt>aGt	p.N125S	LGALS3BP_uc002jwi.3_Intron	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	125					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGCTCACCATTGGTGCAGAC	0.692000														15			12		0	0	0.001855	0	0
CYP4F22	126410	broad.mit.edu	37	19	15659975	15659975	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15659975G>A	uc002nbh.4	+	11	1464	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	433						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAGCATCTATGGAACCCACCA	0.632000														37			23		0	0	0.006320	0	0
POLR2B	5431	broad.mit.edu	37	4	57891066	57891066	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:57891066G>C	uc003hcl.1	+	21	3022	c.2979G>C	c.(2977-2979)aaG>aaC	p.K993N	POLR2B_uc011cae.1_Missense_Mutation_p.K986N|POLR2B_uc011caf.1_Missense_Mutation_p.K918N|POLR2B_uc003hcm.1_Missense_Mutation_p.K486N	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	993					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGGCTAACAAGGGTGAAATTG	0.338000														39			24		0	0	0.003330	0	0
MUL1	79594	broad.mit.edu	37	1	20829787	20829787	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:20829787G>A	uc001bdi.4	-	1	293	c.136C>T	c.(136-138)Cat>Tat	p.H46Y		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	46					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TCACCCAAATGAACTTTTTTA	0.313000														15			9		0	0	0.004482	0	0
PI4KB	5298	broad.mit.edu	37	1	151288521	151288521	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:151288521G>A	uc001exr.3	-	2	1112	c.473C>T	c.(472-474)tCa>tTa	p.S158L	PI4KB_uc001exs.3_Missense_Mutation_p.S146L|PI4KB_uc001exu.3_Missense_Mutation_p.S146L|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Missense_Mutation_p.S146L	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	146					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACAGGTATGAAATGGCCAT	0.507000														110			27		0	0	0.009535	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56807811	56807811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:56807811G>A	uc003dih.2	-	4	336	c.226C>T	c.(226-228)Cga>Tga	p.R76*	ARHGEF3_uc011bew.1_Nonsense_Mutation_p.R44*|ARHGEF3_uc011bev.1_Nonsense_Mutation_p.R15*|ARHGEF3_uc003dif.2_Nonsense_Mutation_p.R50*|ARHGEF3_uc003dig.2_Nonsense_Mutation_p.R44*|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Nonsense_Mutation_p.R44*	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	44					Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GACGTGACTCGGGAAAGGGGT	0.468000														67			33		0	0	0.004289	0	0
TPO	7173	broad.mit.edu	37	2	1544387	1544387	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:1544387C>T	uc002qwr.3	+	15	2726	c.2640C>T	c.(2638-2640)tcC>tcT	p.S880S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.S880S|TPO_uc002qwx.3_Silent_p.S823S|TPO_uc002qwu.3_Silent_p.S823S|TPO_uc010yio.2_Silent_p.S707S|TPO_uc010yip.2_Silent_p.S836S|TPO_uc002qwy.1_Silent_p.S176S|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	880					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACTAAATCCACACTGCCCA	0.637000														43			24		0	0	0.003954	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096434	73096434	+	Missense_Mutation	SNP	C	T	T	rs149877409		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:73096434C>T	uc002jmr.3	+	4	1048	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	SLC16A5_uc002jmt.3_Missense_Mutation_p.H226Y|SLC16A5_uc002jmu.3_Missense_Mutation_p.H226Y|SLC16A5_uc010wrt.2_Missense_Mutation_p.H266Y	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	226					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CATCCAGCGCCACCTGGCCTT	0.632000														30			13		0	0	0.001855	0	0
SPEG	10290	broad.mit.edu	37	2	220355185	220355185	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:220355185C>T	uc010fwg.3	+	36	8976	c.8976C>T	c.(8974-8976)ttC>ttT	p.F2992F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2992	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		GGCGAACGTTCGTGGCCAAGA	0.677000														29			28		0	0	0.012213	0	0
HYDIN	54768	broad.mit.edu	37	16	70926270	70926270	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:70926270G>A	uc002ezr.3	-	55	9559	c.9408C>T	c.(9406-9408)cgC>cgT	p.R3136R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3137										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTACCTGACAGCGCAGAACAG	0.493000														27			12		0	0	0.001855	0	0
FMO3	2328	broad.mit.edu	37	1	171072937	171072937	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:171072937G>A	uc001ghi.3	+	2	255	c.144G>A	c.(142-144)gaG>gaA	p.E48E	FMO3_uc001ghh.3_Silent_p.E48E|FMO3_uc010pmb.2_Silent_p.E28E|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	48					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCATGCAGAGGAGGGCAGGG	0.433000														68			95		0	0	0.003610	0	0
NRG2	9542	broad.mit.edu	37	5	139422085	139422085	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:139422085C>T	uc003lev.2	-	0	800	c.570G>A	c.(568-570)agG>agA	p.R190R	NRG2_uc003lew.2_Silent_p.R190R|NRG2_uc003lex.2_Silent_p.R190R|NRG2_uc003ley.2_Silent_p.R190R|NRG2_uc021yed.1_Silent_p.R190R	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	190					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCTGGTTCCTTTCGAGCG	0.597000														24			13		0	0	0.001368	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449863	85449863	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:85449863C>T	uc001tac.3	+	7	1403	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	LRRIQ1_uc021rbo.1_Missense_Mutation_p.S309L|LRRIQ1_uc001taa.1_Missense_Mutation_p.S406L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	431										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGAAAATTCAAAGAAGCAG	0.303000														62			36		0	0	0.008740	0	0
SF3B3	23450	broad.mit.edu	37	16	70597922	70597922	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:70597922C>G	uc002ezf.3	+	17	2643	c.2432C>G	c.(2431-2433)aCg>aGg	p.T811R		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	811					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ACTGAGGCCACGAAAGCTCAG	0.438000														37			20		0	0	0.010504	0	0
ZNF592	9640	broad.mit.edu	37	15	85341252	85341252	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:85341252C>T	uc002bld.3	+	5	2888	c.2552C>T	c.(2551-2553)cCc>cTc	p.P851L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	851					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCCAGCACCCCACCCAGCCC	0.627000														20			13		0	0	0.002450	0	0
ZNF445	353274	broad.mit.edu	37	3	44496777	44496777	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:44496777G>A	uc003cnf.2	-	2	613	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	ZNF445_uc011azv.1_Missense_Mutation_p.L89F|ZNF445_uc011azw.1_Missense_Mutation_p.L89F|ZNF445_uc021wwo.1_Missense_Mutation_p.L89F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	89	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCCTTGGAGAGAACGTCAGGC	0.592000														64			20		0	0	0.012319	0	0
PDGFD	80310	broad.mit.edu	37	11	103797677	103797677	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:103797677G>A	uc001phq.3	-	5	1322	c.950C>T	c.(949-951)aCa>aTa	p.T317I	PDGFD_uc001php.3_Missense_Mutation_p.T311I	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	317					positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TGAATTGCATGTGCAGGACCT	0.468000														6			31		0	0	0.012213	0	0
TG	7038	broad.mit.edu	37	8	133920503	133920503	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:133920503G>A	uc003ytw.3	+	17	3961	c.3920G>A	c.(3919-3921)aGt>aAt	p.S1307N	TG_uc010mdw.3_Missense_Mutation_p.S66N	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1307					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGATGTGCAGTGCTGACTAC	0.592000														22			37		0	0	0.006230	0	0
CRNN	49860	broad.mit.edu	37	1	152383340	152383340	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152383340T>C	uc001ezx.2	-	2	292	c.218A>G	c.(217-219)gAa>gGa	p.E73G		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	73	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.K72K(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCAGGAATTCCTTGAATTC	0.537000														142			33		0	0	0.009535	0	0
PCYT1B	9468	broad.mit.edu	37	X	24637166	24637166	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:24637166G>A	uc004dbi.3	-	1	386	c.153C>T	c.(151-153)acC>acT	p.T51T	PCYT1B_uc004dbk.4_Silent_p.T51T|PCYT1B_uc004dbj.3_Silent_p.T33T	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	51						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ACTGGCAGTTGGTTTCATCAG	0.488000														2			30		0	0	0.012213	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	A	A	rs4067645	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:144619399G>A	uc009wig.1	+	5	734	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	182								p.A179D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGAAAGTGCAGAAATCAT	0.413000														292			7		0	0	0.006214	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231754	142231754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:142231754G>A	uc003vyh.2	-	1	261	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGTCTTGTCGATACCAGAAC	0.488000														172			103		0	0	0.003610	0	0
TMEM237	65062	broad.mit.edu	37	2	202494496	202494496	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:202494496G>A	uc021vvg.1	-	7	734	c.633C>T	c.(631-633)tcC>tcT	p.S211S	TMEM237_uc021vvd.1_Silent_p.S6S|TMEM237_uc021vve.1_Silent_p.S203S|TMEM237_uc021vvf.1_Silent_p.S6S|TMEM237_uc010zho.1_Silent_p.S6S|TMEM237_uc010zhp.1_Non-coding_Transcript	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	235						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TGGTGGTCCAGGAAGGCTTCA	0.423000														61			28		0	0	0.008361	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217325	26217325	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:26217325C>T	uc003nha.1	+	0	178	c.123C>T	c.(121-123)tcC>tcT	p.S41S	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ae (HIST1H2AE), mRNA.	41					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCAACTACTCCGAACGAGTCG	0.607000														38			38		0	0	0.005524	0	0
SYT17	51760	broad.mit.edu	37	16	19195177	19195177	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:19195177C>T	uc002dfw.3	+	4	990	c.659C>T	c.(658-660)tCg>tTg	p.S220L	SYT17_uc002dfx.3_Missense_Mutation_p.S159L|SYT17_uc002dfy.3_Missense_Mutation_p.S216L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	220	C2 1.					membrane|synaptic vesicle	transporter activity	p.S220S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CACGATGGCTCGCGCCAGGAC	0.602000														119			61		0	0	0.003610	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931667	11931667	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:11931667G>A	uc002dbp.1	-	8	1523	c.1450C>T	c.(1450-1452)Ccc>Tcc	p.P484S	RSL1D1_uc010buv.1_Missense_Mutation_p.P483S|RSL1D1_uc010uyw.1_Missense_Mutation_p.P264S	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	484					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGTACTTTGGGTTTTTTGGGC	0.473000														122			82		0	0	0.003610	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161774	151161774	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:151161774G>A	uc011eem.1	+	15	4165	c.4077G>A	c.(4075-4077)agG>agA	p.R1359R	PLEKHG1_uc003qny.1_Silent_p.R1300R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1300					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATCGTAGAAGGAAATCTGACT	0.423000														7			13		0	0	0.001855	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357116	20357116	+	Silent	SNP	C	T	T	rs7912840		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:20357116C>T	uc001iqg.1	+	3	1126	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PLXDC2_uc001iqh.1_Silent_p.F114F	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	163						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATCTGTCCTTCGATTTTCCAT	0.388000														28			15		0	0	0.004007	0	0
PKD1L2	114780	broad.mit.edu	37	16	81187717	81187717	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:81187717C>T	uc002fgh.1	-	25	4255	c.4255G>A	c.(4255-4257)Gga>Aga	p.G1419R	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1419	PLAT.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCTCTCTCCATCCAGGCCA	0.582000														11			5		0	0	0.000602	0	0
FBLN5	10516	broad.mit.edu	37	14	92336646	92336646	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:92336646G>A	uc010aue.3	-	11	1865	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	TC2N_uc001xzv.4_5'Flank|FBLN5_uc010aud.3_Silent_p.I428I|FBLN5_uc001xzx.4_Silent_p.I423I|FBLN5_uc001xzw.3_Non-coding_Transcript	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	423					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGTTGACAGTGATCATTTCCA	0.577000														99			52		0	0	0.003610	0	0
NLRP10	338322	broad.mit.edu	37	11	7981691	7981691	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:7981691C>T	uc001mfv.1	-	1	1485	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	490							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGCGGGACTCCTTCCCCAGC	0.498000														28			79		0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38793931	38793931	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38793931G>A	uc003ciq.3	-	10	1534	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	512					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGATATCTCGGCCAGGGGAC	0.587000														22			16		0	0	0.006122	0	0
SLC1A6	6511	broad.mit.edu	37	19	15075149	15075149	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15075149C>T	uc002naa.1	-	3	580	c.573G>A	c.(571-573)gtG>gtA	p.V191V	SLC1A6_uc010dzu.1_Silent_p.V191V|SLC1A6_uc010xod.1_Silent_p.V127V|SLC1A6_uc002nab.3_Silent_p.V191V|SLC1A6_uc002nac.3_Silent_p.V191V|SLC1A6_uc002nad.1_Silent_p.V191V	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	191					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGCAGGCCTCCACAAGGTTTG	0.483000														201			105		0	0	0.003610	0	0
ZNF417	147687	broad.mit.edu	37	19	58420698	58420698	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58420698A>G	uc002qqq.3	-	2	1147	c.948T>C	c.(946-948)cgT>cgC	p.R316R	ZNF417_uc010yhm.2_Silent_p.R273R|ZNF417_uc002qqr.3_Silent_p.R315R	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	316				R -> L (in Ref. 2; AAH25783).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R316L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CAGTGTGAACACGCTGATGGC	0.453000														99			45		0	0	0.003610	0	0
CYFIP1	23191	broad.mit.edu	37	15	22960808	22960808	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:22960808C>T	uc001yus.3	+	17	2105	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	CYFIP1_uc001yut.3_Silent_p.S667S|CYFIP1_uc010aya.1_Silent_p.S695S|CYFIP1_uc001yuu.3_Silent_p.S236S	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	667					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGCTCTACTCCCTGGACCTGT	0.602000														23			10		0	0	0.006214	0	0
ZNF587	84914	broad.mit.edu	37	19	58370728	58370728	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58370728T>C	uc002qql.3	+	2	1174	c.948T>C	c.(946-948)ctT>ctC	p.L316L	ZNF587_uc002qqb.2_Silent_p.L273L|ZNF587_uc002qqi.2_Silent_p.L273L|ZNF587_uc010yhh.2_Silent_p.L273L|ZNF587_uc021vco.1_Silent_p.L316L|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Silent_p.L315L|ZNF587_uc021vcq.1_5'Flank	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GCCATCAGCTTGTTCACACTG	0.463000														160			4		0	0	0.010729	0	0
XKR6	286046	broad.mit.edu	37	8	10756377	10756377	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:10756377G>A	uc003wtk.1	-	2	1038	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	337						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCTTGTGATAGGAGGCTAGCA	0.562000														24			69		0	0	0.003610	0	0
ACSL6	23305	broad.mit.edu	37	5	131296268	131296268	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:131296268G>A	uc003kvx.2	-	18	2013	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.S600F|ACSL6_uc003kvy.2_Missense_Mutation_p.S635F|ACSL6_uc003kvz.2_Missense_Mutation_p.S535F|ACSL6_uc021ydh.1_Missense_Mutation_p.S535F|ACSL6_uc010jdo.2_Missense_Mutation_p.S610F|ACSL6_uc003kwa.2_Missense_Mutation_p.S621F|ACSL6_uc003kvw.2_Missense_Mutation_p.S256F|ACSL6_uc010jdn.2_Missense_Mutation_p.S625F	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	610					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGCCCAGGAGGGCATAAC	0.453000														41			18		0	0	0.007413	0	0
FBXO40	51725	broad.mit.edu	37	3	121340369	121340369	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121340369C>T	uc003eeg.2	+	2	303	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	31					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AACCCAACACCTCCTGCCTGG	0.597000														55			32		0	0	0.009535	0	0
DHRS1	115817	broad.mit.edu	37	14	24766036	24766036	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:24766036C>T	uc001woj.2	-	2	471	c.202G>A	c.(202-204)Gag>Aag	p.E68K	HP08474_uc021rro.1_Intron|DHRS1_uc010aln.2_5'Flank|DHRS1_uc001wok.3_Missense_Mutation_p.E68K	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA.	68						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		ACTTCACTCTCCTGGCTTGAA	0.547000											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			20		0	0	0.008871	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744896	87744897	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:87744896_87744897GG>AA	uc003hqd.2	-	5	1226_1227	c.1078_1079CC>TT	c.(1078-1080)cca>TTa	p.P360L		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	360						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GCAATCCATTGGCCCTGGTGGC	0.545000														26			20		0	0	0.004672	0	0
DEPDC5	9681	broad.mit.edu	37	22	32193655	32193655	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:32193655C>T	uc011alu.2	+	12	1039	c.837C>T	c.(835-837)atC>atT	p.I279I	DEPDC5_uc011als.2_Silent_p.I279I|DEPDC5_uc003als.3_Silent_p.I279I|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.I279I|DEPDC5_uc003alr.2_Silent_p.I279I|DEPDC5_uc011alt.2_Silent_p.I251I	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	279					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AACTCTTCATCCAGTATCCAG	0.443000														28			11		0	0	0.010729	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														30			23		0	0	0.002780	0	0
HSF1	3297	broad.mit.edu	37	8	145535489	145535489	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145535489C>T	uc003zbt.4	+	7	997	c.827C>T	c.(826-828)cCc>cTc	p.P276L	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	276	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTGCCAGCCCCATGGCCTCC	0.687000														9			33		0	0	0.003271	0	0
SALL1	6299	broad.mit.edu	37	16	51171159	51171159	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51171159C>T	uc021tif.1	-	2	3870	c.3548G>A	c.(3547-3549)gGa>gAa	p.G1183E	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.G132E	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1280					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCCAGGTTTCCCGTCAGCCC	0.582000														41			20		0	0	0.002299	0	0
SCN11A	11280	broad.mit.edu	37	3	38888478	38888478	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38888478C>T	uc021wvy.1	-	25	5282	c.5083G>A	c.(5083-5085)Ggt>Agt	p.G1695S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1695					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCAGAGCCACCGAGTACCCTA	0.453000														59			38		0	0	0.004878	0	0
APCDD1	147495	broad.mit.edu	37	18	10468492	10468492	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:10468492C>T	uc002kom.4	+	1	439	c.85C>T	c.(85-87)Cat>Tat	p.H29Y		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	29					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			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)		TGCCCTCCTTCATCCAGACAG	0.488000														119			63		0	0	0.003610	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057130	72057130	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:72057130T>C	uc001swo.2	-	0	620	c.261A>G	c.(259-261)tcA>tcG	p.S87S	ZFC3H1_uc010sts.2_Silent_p.S87S|ZFC3H1_uc001swp.3_Silent_p.S87S|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	87	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCGCGAGCGTGAGAAATTCC	0.652000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			44		0	0	0.013114	0	0
ROBO1	6091	broad.mit.edu	37	3	78796020	78796020	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:78796020G>A	uc003dqe.2	-	4	738	c.530C>T	c.(529-531)tCg>tTg	p.S177L	ROBO1_uc003dqc.2_Missense_Mutation_p.S138L|ROBO1_uc003dqd.2_Missense_Mutation_p.S138L|ROBO1_uc003dqb.2_Missense_Mutation_p.S138L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	177	Ig-like C2-type 2.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding	p.S177*(3)|p.S177L(1)|p.S138*(1)|p.S154*(1)|p.S154L(1)|p.S138L(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATGACATCCGAAGGGTTTTG	0.458000														29			15		0	0	0.004007	0	0
NOBOX	135935	broad.mit.edu	37	7	144098436	144098436	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:144098436C>T	uc022aoj.1	-	3	547	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	183					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GAACAATCTTCCCCCTGAGTC	0.627000														23			12		0	0	0.002450	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955374	102955374	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:102955374G>A	uc002tbu.1	+	2	410	c.139G>A	c.(139-141)Gat>Aat	p.D47N	IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.D47N	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	47	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTACACCGTGGATTGGTATTA	0.403000														74			57		0	0	0.003610	0	0
KCNK2	3776	broad.mit.edu	37	1	215345525	215345525	+	Splice_Site	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:215345525A>G	uc001hkq.3	+	5	992	c.823_splice	c.e5+1	p.G275_splice	KCNK2_uc001hko.3_Splice_Site_p.G271_splice|KCNK2_uc009xdm.3_Intron|KCNK2_uc001hkp.3_Splice_Site|KCNK2_uc010pua.1_Splice_Site|KCNK2_uc001hkr.4_Splice_Site_p.G260_splice	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	275							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACTACGTTGCAGGTAAGCTTT	0.398000														97			25		0	0	0.008361	0	0
C1R	715	broad.mit.edu	37	12	7188163	7188164	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:7188163_7188164CC>TT	uc010sfy.2	-	8	1615_1616	c.1556_1557GG>AA	c.(1555-1557)ggg>gAA	p.G519E		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	597	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCATGACCCCGAAGCCACT	0.554000														23			15		0	0	0.004672	0	0
PYGL	5836	broad.mit.edu	37	14	51378932	51378932	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:51378932C>G	uc001wyu.3	-	13	1837	c.1710G>C	c.(1708-1710)agG>agC	p.R570S	PYGL_uc010tqq.2_Missense_Mutation_p.R536S	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	570				R -> S (in Ref. 2; AAC17450).	glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACTCATGTATCCTCTTCACCT	0.478000														139			8		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13864514	13864514	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:13864514C>T	uc003jfd.2	-	27	4630	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1530	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTCTATTTCCTCTTTATAT	0.383000									Kartagener syndrome					44			23		0	0	0.006320	0	0
DAB1	1600	broad.mit.edu	37	1	57535066	57535066	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57535066G>A	uc009vzx.1	-	7	950	c.630C>T	c.(628-630)atC>atT	p.I210I	DAB1_uc001cyt.1_Silent_p.I210I|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Silent_p.I210I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	210					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CGGGATCACGGATTGGCTCGT	0.413000														44			23		0	0	0.003954	0	0
DYSF	8291	broad.mit.edu	37	2	71838413	71838413	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:71838413G>A	uc010fen.3	+	36	4137	c.3996G>A	c.(3994-3996)agG>agA	p.R1332R	DYSF_uc010fei.3_Silent_p.R1331R|DYSF_uc010feh.3_Silent_p.R1300R|DYSF_uc002sig.4_Silent_p.R1300R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R1345R|DYSF_uc010fee.3_Silent_p.R1314R|DYSF_uc010fef.3_Silent_p.R1331R|DYSF_uc002sie.3_Silent_p.R1314R|DYSF_uc010feo.3_Silent_p.R1346R|DYSF_uc010fej.3_Silent_p.R1301R|DYSF_uc010fel.3_Silent_p.R1301R|DYSF_uc010fem.3_Silent_p.R1315R|DYSF_uc002sif.3_Silent_p.R1315R|DYSF_uc010fek.3_Silent_p.R1332R|DYSF_uc010yqy.2_Silent_p.R195R|DYSF_uc010yqz.2_Silent_p.R54R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1314						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACCCCAGAGGGAGGCCAACA	0.597000														13			8		0	0	0.008291	0	0
MAP2	4133	broad.mit.edu	37	2	210517993	210517993	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:210517993T>G	uc002vde.1	+	3	347	c.99T>G	c.(97-99)gaT>gaG	p.D33E	MAP2_uc002vdc.1_Missense_Mutation_p.D33E|MAP2_uc002vdd.1_Missense_Mutation_p.D33E|MAP2_uc002vdf.1_Missense_Mutation_p.D33E|MAP2_uc002vdg.1_Missense_Mutation_p.D33E|MAP2_uc002vdh.1_Missense_Mutation_p.D33E|MAP2_uc002vdi.1_Missense_Mutation_p.D33E	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	33					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGATTAAGGATCAAGGCGGAG	0.547000														28			17		0	0	0.004990	0	0
RP1L1	94137	broad.mit.edu	37	8	10464599	10464599	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:10464599C>T	uc003wtc.3	-	3	7238	c.7009G>A	c.(7009-7011)Gag>Aag	p.E2337K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2337					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTTCCTCTCTGCATGAGGG	0.547000														50			137		0	0	0.003610	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149655	63149655	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:63149655G>A	uc001nww.3	+	5	1247	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	327					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CATGAAAAAAGAACTGGAGGC	0.418000														28			102		0	0	0.003610	0	0
NUB1	51667	broad.mit.edu	37	7	151053246	151053246	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:151053246C>T	uc003wjx.3	+	6	719	c.703C>T	c.(703-705)Ccg>Tcg	p.P235S	NUB1_uc003wjw.3_Missense_Mutation_p.P211S|NUB1_uc003wjy.3_Non-coding_Transcript|NUB1_uc011kvj.1_Intron	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	211					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGAAATGACACCGTACTTAGA	0.403000														33			17		0	0	0.006122	0	0
ALOX12B	242	broad.mit.edu	37	17	7989535	7989535	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7989535C>T	uc002gjy.1	-	1	412	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	51	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GTGTACTGGCCCACCTAGGCA	0.647000										Multiple Myeloma(8;0.094)				12			8		0	0	0.004482	0	0
ATL3	25923	broad.mit.edu	37	11	63396854	63396855	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:63396854_63396855GG>AA	uc001nxk.1	-	12	1838_1839	c.1562_1563CC>TT	c.(1561-1563)tcc>tTT	p.S521F	ATL3_uc010rms.1_Missense_Mutation_p.S503F|DQ593252_uc001nxj.1_5'Flank|ATL3_uc010rmr.1_Missense_Mutation_p.S179F	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	521					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TGGCCTGAGTGGAATTACCGAT	0.371000														12			18		0	0	0.004672	0	0
FCGBP	8857	broad.mit.edu	37	19	40398331	40398331	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:40398331C>T	uc002omp.4	-	13	6644	c.6636G>A	c.(6634-6636)ggG>ggA	p.G2212G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2212	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTTGTAGTTCCCGCATAAGC	0.692000														28			21		0	0	0.003271	0	0
SH2D3A	10045	broad.mit.edu	37	19	6763733	6763733	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6763733G>A	uc002mft.3	-	1	221	c.27C>T	c.(25-27)gaC>gaT	p.D9D	SH2D3A_uc010xjg.2_Missense_Mutation_p.T4I	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	9					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCCAGCAAGGTCTTCTCCAT	0.602000														39			23		0	0	0.009535	0	0
SSPO	23145	broad.mit.edu	37	7	149513089	149513089	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:149513089G>A	uc010lpk.3	+	76	10983	c.10983G>A	c.(10981-10983)ggG>ggA	p.G3661G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3664	TSP type-1 15.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGGGCGGGGAGCAGCTGC	0.687000														2			7		0	0	0.001984	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47236441	47236441	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:47236441G>A	uc002ion.2	+	5	780	c.721G>A	c.(721-723)Gat>Aat	p.D241N	B4GALNT2_uc010wlt.1_Missense_Mutation_p.D155N|B4GALNT2_uc010wlu.1_Missense_Mutation_p.D181N	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	241					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CACCCTTGCTGATGTCCCAGA	0.517000														138			57		0	0	0.003610	0	0
CTDP1	9150	broad.mit.edu	37	18	77477837	77477837	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:77477837C>T	uc002lnh.2	+	9	2385	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	CTDP1_uc002lni.2_Silent_p.D746D|CTDP1_uc010drd.2_Silent_p.D746D|CTDP1_uc021ult.1_Silent_p.D627D	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	746					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCTTTCCCGACCGGGAGGGTG	0.672000														41			21		0	0	0.002780	0	0
CDH23	64072	broad.mit.edu	37	10	73545396	73545396	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:73545396C>T	uc001jrx.4	+	41	6102	c.5712C>T	c.(5710-5712)atC>atT	p.I1904I		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1907	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A1903V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGACAGGGATCGTCACTGTGA	0.582000														8			3		0	0	0.004672	0	0
ATP11C	286410	broad.mit.edu	37	X	138878601	138878601	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:138878601G>A	uc004faz.3	-	11	1145	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.S349L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	349					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACCATAAATGATAGGAAGTC	0.333000														12			43		0	0	0.003610	0	0
FBN2	2201	broad.mit.edu	37	5	127599332	127599332	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:127599332G>A	uc003kuu.3	-	62	8416	c.7977C>T	c.(7975-7977)tcC>tcT	p.S2659S		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2659	EGF-like 46; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTGGGATTGGAGCATTCAT	0.522000														21			18		0	0	0.007413	0	0
ZNF200	7752	broad.mit.edu	37	16	3273957	3273957	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3273957G>A	uc002cuj.2	-	4	1755	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	ZNF200_uc002cum.3_Missense_Mutation_p.R374W|ZNF200_uc002cuk.2_Missense_Mutation_p.R375W|ZNF200_uc010bti.2_Missense_Mutation_p.R374W|ZNF200_uc002cui.2_Missense_Mutation_p.R374W|ZNF200_uc002cul.3_Missense_Mutation_p.R374W	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G374A(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TTTGACAGCCGACCAAATCTT	0.488000														192			122		0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142151389	142151389	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:142151389C>T	uc003yvy.3	+	3	627	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	DENND3_uc003yvw.1_Missense_Mutation_p.P130S|DENND3_uc003yvx.3_Silent_p.F195F|DENND3_uc010mep.3_Missense_Mutation_p.P130S	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	117	DENN.							p.P117S(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAGGTTTCCCTATTACAA	0.587000														22			75		0	0	0.003610	0	0
FAM83F	113828	broad.mit.edu	37	22	40417943	40417943	+	Missense_Mutation	SNP	G	A	A	rs41276305	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:40417943G>A	uc003ayk.1	+	3	1523	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	477										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GAGGCCCAACGAGAATTCCAG	0.642000														36			21		0	0	0.012319	0	0
CD3D	915	broad.mit.edu	37	11	118211302	118211302	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:118211302G>A	uc001pss.1	-	1	199	c.62C>T	c.(61-63)cCc>cTc	p.P21L	CD3D_uc001pst.1_Missense_Mutation_p.P21L|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	21					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TATCTTGAAGGGGCTCACTAA	0.458000														16			23		0	0	0.002780	0	0
TRIM42	287015	broad.mit.edu	37	3	140407033	140407033	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:140407033C>T	uc003eto.2	+	2	1715	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	503						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGGGGACTCCCTGCCCTCCC	0.557000														36			23		0	0	0.012319	0	0
PDE4D	5144	broad.mit.edu	37	5	58511757	58511757	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:58511757G>A	uc003jsa.2	-	1	665	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	PDE4D_uc003jrx.2_Missense_Mutation_p.P29S|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Missense_Mutation_p.P101S|PDE4D_uc003jsb.3_Missense_Mutation_p.P104S|PDE4D_uc003jsc.3_Missense_Mutation_p.P101S|PDE4D_uc003jrv.2_Missense_Mutation_p.P35S|PDE4D_uc003jrw.2_Missense_Mutation_p.P43S|PDE4D_uc010iwi.1_5'UTR	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	165					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGATCCAAGGGACTCCGTCCC	0.473000														20			5		0	0	0.000602	0	0
CLPSL2	389383	broad.mit.edu	37	6	35747191	35747191	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:35747191G>A	uc003olc.1	+	3	350	c.346G>A	c.(346-348)Gga>Aga	p.G116R	CLPSL2_uc010jvz.1_Silent_p.K89K|CLPSL1_uc003old.4_5'Flank			Q6UWE3	CF126_HUMAN	Homo sapiens chromosome 6 open reading frame 126 (C6orf126), mRNA.	0					digestion|lipid catabolic process	extracellular region	enzyme activator activity										GCATATCCAAGGACTTGATGT	0.567000														7			5		0	0	0.000602	0	0
ZFY	7544	broad.mit.edu	37	Y	2847288	2847288	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrY:2847288C>T	uc004fqj.3	+	7	1981	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	ZFY_uc011nan.2_Nonsense_Mutation_p.R363*|ZFY_uc010nwe.3_Nonsense_Mutation_p.R477*	NM_003411	NP_003402	P08048	ZFY_HUMAN	Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA.	554				R -> S (in Ref. 7).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						TAAAGGTTTCCGACACCCGTC	0.473000														14			39		0	0	0.008740	0	0
GLG1	2734	broad.mit.edu	37	16	74496043	74496043	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:74496043G>A	uc002fcx.3	-	21	3035	c.2985C>T	c.(2983-2985)tcC>tcT	p.S995S	GLG1_uc002fcw.4_Silent_p.S984S|GLG1_uc002fcy.4_Silent_p.S995S|GLG1_uc002fcz.4_Silent_p.S412S	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	995						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGTCCAGGGCGGACTCCTGGA	0.532000														53			28		0	0	0.008361	0	0
MYO18B	84700	broad.mit.edu	37	22	26388449	26388449	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:26388449G>A	uc003abz.1	+	39	6527	c.6277G>A	c.(6277-6279)Gat>Aat	p.D2093N	MYO18B_uc003aca.1_Missense_Mutation_p.D1974N|MYO18B_uc010guy.1_Missense_Mutation_p.D1975N|MYO18B_uc010guz.1_Missense_Mutation_p.D1973N|MYO18B_uc011aka.1_Missense_Mutation_p.D1247N|MYO18B_uc011akb.1_Missense_Mutation_p.D1606N|MYO18B_uc010gva.1_Missense_Mutation_p.D91N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2093						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGTGACAGTGATACTGAGAG	0.622000														19			16		0	0	0.007413	0	0
PHTF1	10745	broad.mit.edu	37	1	114252914	114252914	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:114252914C>T	uc009wgp.1	-	9	1683	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R	PHTF1_uc001edn.3_Missense_Mutation_p.G411R|PHTF1_uc001edm.2_Missense_Mutation_p.G168R|PHTF1_uc001edo.1_Missense_Mutation_p.G168R	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	411						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTTTGGTCCCTGAGTGAAGG	0.498000														34			14		0	0	0.004007	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29699056	29699056	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:29699056G>A	uc002nsd.2	-	1	335	c.224C>T	c.(223-225)tCt>tTt	p.S75F		NM_006003	NP_005994	P47985	UCRI_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1), nuclear gene encoding mitochondrial protein, mRNA.	75					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			ATAACAAACAGAAGCAGGGAC	0.428000														44			28		0	0	0.010818	0	0
ACOX3	8310	broad.mit.edu	37	4	8411951	8411951	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:8411951G>A	uc010idk.3	-	5	820	c.675C>T	c.(673-675)ccC>ccT	p.P225P	ACOX3_uc003glc.4_Silent_p.P225P|ACOX3_uc003gld.4_Silent_p.P225P	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	225					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCACGATAAAGGGATGCAGCC	0.562000														21			8		0	0	0.006214	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32902752	32902752	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32902752G>A	uc003ocl.2	-	5	1051	c.788C>T	c.(787-789)tCc>tTc	p.S263F	HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Missense_Mutation_p.S120F|HLA-DMB_uc010jue.2_Missense_Mutation_p.S93F|HLA-DMB_uc010juf.2_Missense_Mutation_p.S81F|HLA-DMB_uc003ocj.2_3'UTR	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	263					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTGCCTCTAGGAAATGTGCCA	0.438000														15			29		0	0	0.010818	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45218332	45218333	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:45218332_45218333CC>TT	uc003bfd.3	+	10	1375_1376	c.1098_1099CC>TT	c.(1096-1101)atccct>atTTct	p.P367S	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.P279S|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.P193S|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.P157S|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.P157S|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.P188S|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.P157S|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.									p.R366Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						AGCTGGTCATCCCTCCCGAAGT	0.465000														44			25		0	0	0.004672	0	0
RPTN	126638	broad.mit.edu	37	1	152129266	152129266	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152129266C>T	uc001ezs.1	-	2	374	c.309G>A	c.(307-309)agG>agA	p.R103R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	103	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTCCTGCCCCCTTTCTTGCT	0.502000														119			189		0	0	0.003610	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670742	94670742	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:94670742G>A	uc001dqj.4	-	6	941	c.572C>T	c.(571-573)cCt>cTt	p.P191L	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.P191L	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	191					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TAGTTCTAAAGGGGAAAAATT	0.333000														24			8		0	0	0.004482	0	0
GABRE	2564	broad.mit.edu	37	X	151124192	151124193	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:151124192_151124193GG>AA	uc004ffi.3	-	6	978_979	c.924_925CC>TT	c.(922-927)gcccgg>gcTTgg	p.R309W	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	309					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGAGGTCCGGGCTGGAGCAG	0.525000														16			83		0	0	0.004672	0	0
SLC6A13	6540	broad.mit.edu	37	12	333250	333250	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:333250G>A	uc001qic.2	-	10	1309	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	SLC6A13_uc009zdj.2_Missense_Mutation_p.P397S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P315S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	407					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AACACGTGAGGGTACATGTCC	0.562000														32			16		0	0	0.004990	0	0
RASA3	22821	broad.mit.edu	37	13	114773066	114773066	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:114773066G>A	uc001vui.3	-	17	1816	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	RASA3_uc010tkk.2_Missense_Mutation_p.S530L|RASA3_uc001vuj.3_Missense_Mutation_p.S179L	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCCCGAGGACGAAATCAGATC	0.552000														10			23		0	0	0.003330	0	0
ZNF99	7652	broad.mit.edu	37	19	22941195	22941195	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:22941195C>T	uc021urt.1	-	3	1671	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAAGGTTTCTCTTCCATATGA	0.348000														33			22		0	0	0.002299	0	0
ABCC1	4363	broad.mit.edu	37	16	16162084	16162084	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:16162084C>T	uc010bvi.3	+	12	1924	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	ABCC1_uc010bvj.3_Silent_p.F583F|ABCC1_uc010bvk.3_Silent_p.F583F|ABCC1_uc010bvl.3_Silent_p.F583F|ABCC1_uc010bvm.3_Silent_p.F583F|ABCC1_uc002del.4_Silent_p.F467F|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Intron	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	583	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGACAGCCTTCGTGTCTTTGG	0.562000														57			44		0	0	0.003610	0	0
SLX4	84464	broad.mit.edu	37	16	3639432	3639432	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3639432C>T	uc002cvp.2	-	11	4834	c.4207G>A	c.(4207-4209)Gag>Aag	p.E1403K		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1403	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGGCCACCTCCTGCTCATCG	0.617000								Direct reversal of damage						59			40		0	0	0.006999	0	0
C3	718	broad.mit.edu	37	19	6702583	6702583	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6702583C>T	uc002mfm.3	-	17	2315	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	751					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGTCCTCATCCAGGTTACCTG	0.517000														48			35		0	0	0.006999	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310285	75310285	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:75310285C>T	uc002azn.2	+	4	555	c.368C>T	c.(367-369)gCc>gTc	p.A123V	SCAMP5_uc002azl.2_Missense_Mutation_p.A123V|SCAMP5_uc002azm.2_Missense_Mutation_p.A123V|SCAMP5_uc002azk.2_Missense_Mutation_p.A123V|SCAMP5_uc010uly.2_Missense_Mutation_p.A52V	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	123					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATCATCCAGGCCGTGGGCATC	0.587000														60			40		0	0	0.003610	0	0
SUPT6H	6830	broad.mit.edu	37	17	27023944	27023945	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:27023944_27023945CC>TT	uc010crt.3	+	30	4245_4246	c.4053_4054CC>TT	c.(4051-4056)gaccag>gaTTag	p.Q1352*	SUPT6H_uc002hby.3_Nonsense_Mutation_p.Q1352*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1352	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGACCATGGACCAGGGTGATGT	0.485000														53			22		0	0	0.004672	0	0
ZNF821	55565	broad.mit.edu	37	16	71898924	71898924	+	Missense_Mutation	SNP	G	C	C	rs139528518	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:71898924G>C	uc010vmj.2	-	3	602	c.194C>G	c.(193-195)aCg>aGg	p.T65R	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_5'UTR|ZNF821_uc002fbf.3_Missense_Mutation_p.T23R|ZNF821_uc021tlb.1_Missense_Mutation_p.T65R|ZNF821_uc021tlc.1_Missense_Mutation_p.T65R|ZNF821_uc002fbh.4_Missense_Mutation_p.T23R|ZNF821_uc002fbg.4_Intron	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T23M(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ATCTTGTGTCGTCTCCTCTTC	0.473000														87			54		0	0	0.003610	0	0
APOL1	8542	broad.mit.edu	37	22	36661318	36661318	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:36661318C>T	uc003ape.3	+	6	758	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	APOL1_uc011amn.1_Missense_Mutation_p.R23W|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.R23W|APOL1_uc003apf.3_Missense_Mutation_p.R146W|APOL1_uc011amp.2_Missense_Mutation_p.R146W|APOL1_uc011amq.2_Missense_Mutation_p.R128W|APOL1_uc010gwx.3_Missense_Mutation_p.R23W	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	146					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.R162L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGAGTTTCCTCGGTTGAAAAG	0.468000														44			28		0	0	0.006320	0	0
TNXB	7148	broad.mit.edu	37	6	32023901	32023901	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32023901C>T	uc003nzl.2	-	23	8396	c.8194G>A	c.(8194-8196)Gag>Aag	p.E2732K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2790	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAGGGGGCTCCGGGGCCTCA	0.642000														385			137		0	0	0.003610	0	0
STAC2	342667	broad.mit.edu	37	17	37371268	37371268	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:37371268C>T	uc002hrs.3	-	5	993	c.708G>A	c.(706-708)cgG>cgA	p.R236R	STAC2_uc010cvt.3_Silent_p.R94R	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	236					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCAGCTCATCCCGCTCACTCT	0.627000														153			55		0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26423113	26423113	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:26423113G>A	uc003abz.1	+	42	7423	c.7173G>A	c.(7171-7173)gtG>gtA	p.V2391V	MYO18B_uc003aca.1_Silent_p.V2272V|MYO18B_uc010guy.1_Silent_p.V2273V|MYO18B_uc010guz.1_Silent_p.V2271V|MYO18B_uc011aka.1_Silent_p.V1545V|MYO18B_uc011akb.1_Silent_p.V1904V|MYO18B_uc010gva.1_Silent_p.V374V|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2391						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTCCTCTGTGGACGATGCGG	0.597000														57			35		0	0	0.003271	0	0
CCDC33	80125	broad.mit.edu	37	15	74588137	74588137	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:74588137C>T	uc002axo.3	+	10	1532	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	CCDC33_uc002axp.3_Missense_Mutation_p.P202S	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	583							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAAGGCTCTTCCTACCTTGGA	0.512000														53			22		0	0	0.003954	0	0
PCSK2	5126	broad.mit.edu	37	20	17462516	17462516	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:17462516G>A	uc002wpm.3	+	11	2072	c.1718G>A	c.(1717-1719)gGa>gAa	p.G573E	PCSK2_uc002wpl.3_Missense_Mutation_p.G554E|PCSK2_uc010zrm.2_Missense_Mutation_p.G538E|PCSK2_uc002wpn.3_Missense_Mutation_p.G227E	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	573					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGAGCTGGGATTTGTCGGC	0.627000														21			11		0	0	0.008291	0	0
DMP1	1758	broad.mit.edu	37	4	88583737	88583737	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:88583737G>A	uc003hqv.3	+	5	911	c.807G>A	c.(805-807)agG>agA	p.R269R	DMP1_uc003hqw.3_Silent_p.R253R	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	269					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AAATTTTTAGGAAGTCTCGCA	0.438000														16			17		0	0	0.006122	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131868	82131868	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:82131868G>A	uc002fgv.3	+	4	1163	c.991G>A	c.(991-993)Gcg>Acg	p.A331T		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	331					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGCTATCTTGGCGAAGAGCCC	0.483000														37			24		0	0	0.003954	0	0
CSMD2	114784	broad.mit.edu	37	1	34209109	34209109	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:34209109G>A	uc001bxm.1	-	13	2122	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L	CSMD2_uc001bxn.1_Silent_p.L609L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	609	CUB 4.					integral to membrane|plasma membrane	protein binding	p.L609L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCCTGGCCAGGATGAGCCAG	0.587000														59			24		0	0	0.003954	0	0
COL16A1	1307	broad.mit.edu	37	1	32157060	32157060	+	Silent	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:32157060G>T	uc001btk.1	-	18	1721	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	COL16A1_uc001btj.1_Silent_p.P281P|COL16A1_uc001btl.4_Silent_p.P452P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	452	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGGGAGGCCGGGGGGCCCAG	0.662000														27			15		3.99206e-14	4.35959e-14	0.007413	1	0
PDE1C	5137	broad.mit.edu	37	7	31867923	31867923	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:31867923A>T	uc003tcm.2	-	11	1729	c.1268T>A	c.(1267-1269)gTt>gAt	p.V423D	PDE1C_uc003tcn.1_Missense_Mutation_p.V423D|PDE1C_uc003tco.2_Missense_Mutation_p.V483D|PDE1C_uc003tcr.3_Missense_Mutation_p.V423D|PDE1C_uc003tcs.3_Missense_Mutation_p.V423D	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	423	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGACTGAGCAACCATAGTGGA	0.458000														54			21		0	0	0.003330	0	0
C12orf36	283422	broad.mit.edu	37	12	13526360	13526360	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:13526360C>T	uc001rbs.2	-	2	447	c.195G>A	c.(193-195)ggG>ggA	p.G65G						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ATTCCTCATTCCCAAATCTGT	0.458000														26			21		0	0	0.008871	0	0
ADAM18	8749	broad.mit.edu	37	8	39466603	39466603	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:39466603A>G	uc003xni.3	+	3	286	c.231A>G	c.(229-231)gaA>gaG	p.E77E	ADAM18_uc003xnh.3_Silent_p.E77E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.E77E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	77					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATATAATGAAACTGGATCTT	0.244000														9			23		0	0	0.008361	0	0
PPP2R4	5524	broad.mit.edu	37	9	131899968	131899968	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:131899968C>T	uc004bxm.2	+	8	1175	c.888C>T	c.(886-888)acC>acT	p.T296T	PPP2R4_uc004bxl.2_Silent_p.T261T|PPP2R4_uc011mbo.2_Silent_p.T296T|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Silent_p.T261T|PPP2R4_uc004bxo.2_Silent_p.T219T|PPP2R4_uc011mbp.2_Silent_p.T232T|PPP2R4_uc011mbq.1_Silent_p.T219T|PPP2R4_uc010mys.2_Silent_p.T226T|PPP2R4_uc011mbr.1_5'Flank|PPP2R4_uc004bxp.3_5'Flank	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	296					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGTTTATTACCGAGGTGAGGA	0.547000														6			10		0	0	0.006214	0	0
FLG	2312	broad.mit.edu	37	1	152282112	152282112	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:152282112G>A	uc001ezu.1	-	2	5286	c.5250C>T	c.(5248-5250)tcC>tcT	p.S1750S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1750	Ser-rich.		S -> F (in dbSNP:rs3120647).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGTGTGGACTCTTGGT	0.607000									Ichthyosis					367			81		0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167096525	167096525	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:167096525C>T	uc001geb.1	+	4	2173	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	719					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACACCATTTCCATTGCCAGTA	0.547000														68			29		0	0	0.009535	0	0
NF1	4763	broad.mit.edu	37	17	29553538	29553538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:29553538G>A	uc002hgg.3	+	17	2470	c.2087G>A	c.(2086-2088)tGg>tAg	p.W696*	NF1_uc002hgh.3_Nonsense_Mutation_p.W696*|NF1_uc010csn.2_Nonsense_Mutation_p.W556*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	696					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.W696fs*1(2)|p.W696*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGTTTCTGTGGAACCCTGAC	0.547000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				52			20		0	0	0.010504	0	0
TRIO	7204	broad.mit.edu	37	5	14462946	14462946	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:14462946G>A	uc003jff.3	+	35	5585	c.5579G>A	c.(5578-5580)gGc>gAc	p.G1860D	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.G1509D	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1860					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.G1860G(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAGAGGAAGGCGAGGAGGGG	0.622000														55			17		0	0	0.004990	0	0
CPNE9	151835	broad.mit.edu	37	3	9754748	9754748	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:9754748A>C	uc021wst.1	+	9	806	c.635A>C	c.(634-636)aAt>aCt	p.N212T	CPNE9_uc003bsd.3_Missense_Mutation_p.N211T	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	212	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCTCTGTGCAATGGAGACTAT	0.537000														20			9		0	0	0.004482	0	0
TGM4	7047	broad.mit.edu	37	3	44943397	44943397	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:44943397C>T	uc003coc.4	+	7	1018	c.945C>T	c.(943-945)atC>atT	p.I315I		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	315					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCGAGAAAATCACCAGTATGA	0.498000														28			13		0	0	0.001855	0	0
ZNF716	441234	broad.mit.edu	37	7	57529081	57529081	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:57529081T>A	uc011kdi.1	+	3	1026	c.914T>A	c.(913-915)tTt>tAt	p.F305Y		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.									p.A304T(1)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGCAAAGCCTTTAGCCGCTCT	0.428000														35			30		0	0	0.006320	0	0
GPHB5	122876	broad.mit.edu	37	14	63784459	63784459	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:63784459G>A	uc021rud.1	-	1	162	c.105C>T	c.(103-105)ggC>ggT	p.G35G		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	35						extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCACGGCACAGCCCACAAAGG	0.627000														41			14		0	0	0.001855	0	0
CIT	11113	broad.mit.edu	37	12	120173010	120173010	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:120173010G>A	uc001txj.2	-	24	3167	c.3111C>T	c.(3109-3111)cgC>cgT	p.R1037R	CIT_uc001txh.2_Silent_p.R529R|CIT_uc001txi.2_Silent_p.R995R	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	995					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGATCTCCCGGCGGAGATGGT	0.488000														63			37		0	0	0.005524	0	0
DMBT1	1755	broad.mit.edu	37	10	124402818	124402818	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:124402818G>A	uc001lgk.1	+	52	7252	c.7146G>A	c.(7144-7146)tcG>tcA	p.S2382S	DMBT1_uc001lgl.1_Silent_p.S2372S|DMBT1_uc001lgm.1_Silent_p.S1754S|DMBT1_uc021qaf.1_Silent_p.S2382S|DMBT1_uc021qag.1_Silent_p.S2372S|DMBT1_uc021qah.1_Silent_p.S1754S|DMBT1_uc009xzz.1_Silent_p.S2381S|DMBT1_uc010qtx.1_Silent_p.S1102S|DMBT1_uc009yab.1_Silent_p.S1085S|DMBT1_uc009yac.1_Silent_p.S676S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2382					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTTGAGGTCGAAGAGGGATG	0.612000														54			43		0	0	0.009718	0	0
FUT2	2524	broad.mit.edu	37	19	49206783	49206783	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49206783C>T	uc002pke.4	+	1	681	c.570C>T	c.(568-570)agC>agT	p.S190S	FUT2_uc010emc.3_Silent_p.S190S|FUT2_uc021uwx.1_Silent_p.S190S	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	190					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TGAACGGGAGCCGGCCGGGCA	0.647000														42			17		0	0	0.004007	0	0
PKD1	5310	broad.mit.edu	37	16	2168111	2168111	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2168111G>A	uc002cos.1	-	4	1091	c.882C>T	c.(880-882)atC>atT	p.I294I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.I294I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	294	PKD 1.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGGGCAGCGATGTGGAAGG	0.711000														10			11		0	0	0.010729	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902690	61902690	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:61902690C>T	uc002jbz.3	-	5	585	c.507G>A	c.(505-507)tgG>tgA	p.W169*	FTSJ3_uc002jca.3_Nonsense_Mutation_p.W169*|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	169					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGAAAGATCCATAGCAGAG	0.527000														74			25		0	0	0.003954	0	0
ITFG2	55846	broad.mit.edu	37	12	2930439	2930439	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:2930439C>T	uc001qlb.2	+	6	847	c.707C>T	c.(706-708)gCt>gTt	p.A236V	ITFG2_uc010seb.2_Missense_Mutation_p.A59V|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	236										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAGACCCCAGCTGCCCGAGAC	0.552000														9			7		0	0	0.001984	0	0
UBR4	23352	broad.mit.edu	37	1	19441987	19441987	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:19441987C>A	uc001bbi.3	-	73	10972	c.10968G>T	c.(10966-10968)gaG>gaT	p.E3656D	UBR4_uc001bbj.1_Missense_Mutation_p.E71D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3656					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTGCAGGGTCTCTGTGGAGG	0.532000														86			55		5.39261e-20	5.91565e-20	0.003610	1	0
GPR18	2841	broad.mit.edu	37	13	99907627	99907627	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:99907627G>A	uc001voe.4	-	2	1159	c.500C>T	c.(499-501)tCc>tTc	p.S167F	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Missense_Mutation_p.S167F|GPR18_uc021rlz.1_Missense_Mutation_p.S167F	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	167						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GGCGGGAGTGGAGTCTTTATC	0.488000														19			31		0	0	0.004878	0	0
NLGN1	22871	broad.mit.edu	37	3	173993129	173993129	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:173993129C>T	uc021xhm.1	+	4	1111	c.791C>T	c.(790-792)gCt>gTt	p.A264V	NLGN1_uc003fio.1_Missense_Mutation_p.A224V|NLGN1_uc010hww.1_Missense_Mutation_p.A264V|NLGN1_uc003fip.1_Missense_Mutation_p.A224V	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	241					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 N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate 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			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)			GGCGATCAGGCTGCAAAGGGG	0.368000														47			30		0	0	0.004289	0	0
TRIM46	80128	broad.mit.edu	37	1	155154622	155154623	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:155154622_155154623CC>TT	uc001fhs.1	+	8	1966_1967	c.1883_1884CC>TT	c.(1882-1884)ccc>cTT	p.P628L	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.P502L|TRIM46_uc001fhu.1_Missense_Mutation_p.P605L|TRIM46_uc009wpg.1_Missense_Mutation_p.P615L|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_5'Flank	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	628	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGATCAGCCCCAGGTCAGACC	0.639000														33			8		0	0	0.004672	0	0
KCNB2	9312	broad.mit.edu	37	8	73848694	73848694	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:73848694C>T	uc003xzb.3	+	2	1692	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	368					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCACCAGTATCCCTGCATCAT	0.443000														24			98		0	0	0.003610	0	0
APBB2	323	broad.mit.edu	37	4	40936678	40936678	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:40936678T>C	uc003gvn.3	-	8	1776	c.1146A>G	c.(1144-1146)ttA>ttG	p.L382L	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Silent_p.L381L|APBB2_uc003gvm.3_Silent_p.L360L|APBB2_uc011byt.1_Silent_p.L343L	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	381					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAAACTCTTTTAAACTGGGGT	0.438000														12			15		0	0	0.004990	0	0
PCTP	58488	broad.mit.edu	37	17	53851150	53851151	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:53851150_53851151CC>TT	uc002iul.4	+	3	530_531	c.405_406CC>TT	c.(403-408)gcccgg>gcTTgg	p.R136W	PCTP_uc002ium.4_Missense_Mutation_p.R64W|PCTP_uc010dch.3_Non-coding_Transcript	NM_021213	NP_001095872	Q9UKL6	PPCT_HUMAN	Homo sapiens phosphatidylcholine transfer protein (PCTP), transcript variant 1, mRNA.	136	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TGATCCTGGCCCGGAGCACCTC	0.589000														37			11		0	0	0.004672	0	0
SCAF4	57466	broad.mit.edu	37	21	33057964	33057964	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:33057964G>A	uc002ypd.2	-	16	2552	c.2126C>T	c.(2125-2127)cCa>cTa	p.P709L	SCAF4_uc002ype.2_Missense_Mutation_p.P709L|SCAF4_uc010glu.2_Missense_Mutation_p.P694L|SCAF4_uc002ypf.1_Missense_Mutation_p.P383L	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	709						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACCAAAGCCTGGAGGCGGTAT	0.537000														31			21		0	0	0.012319	0	0
SYNRG	11276	broad.mit.edu	37	17	35898496	35898498	+	Missense_Mutation	DNP	TA	AG	AG			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:35898496_35898498TA>AG	uc002hoa.3	-	17	3528_3530	c.3445_3447TA>CT	c.(3445-3447)tta>CT	p.L1149del	SYNRG_uc010wde.2_Missense_Mutation_p.L1071del|SYNRG_uc010wdf.2_Missense_Mutation_p.L1071del|SYNRG_uc002hoc.3_Missense_Mutation_p.L1070del|SYNRG_uc002hoe.3_Missense_Mutation_p.L1071del|SYNRG_uc002hod.3_Missense_Mutation_p.L1026del|SYNRG_uc010wdg.2_Missense_Mutation_p.L943del|SYNRG_uc002hob.3_Missense_Mutation_p.L1149del	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1149					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGATTCCATTTAAGGTATCATTT	0.305000														177			44		0	0	0.004672	0	0
FAM161A	84140	broad.mit.edu	37	2	62069262	62069262	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:62069262A>G	uc002sbm.4	-	1	519	c.417T>C	c.(415-417)tcT>tcC	p.S139S	FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Silent_p.S139S|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.S30S	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	139					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTACCTGGAAGAGTCACTAA	0.313000														57			28		0	0	0.003271	0	0
FAM123C	205147	broad.mit.edu	37	2	131519712	131519712	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:131519712G>A	uc021voy.1	+	0	67	c.67G>A	c.(67-69)Gac>Aac	p.D23N	FAM123C_uc002trw.2_Missense_Mutation_p.D23N|FAM123C_uc010fmv.2_Missense_Mutation_p.D23N|FAM123C_uc010fms.1_Missense_Mutation_p.D23N|FAM123C_uc010fmt.1_Missense_Mutation_p.D23N|FAM123C_uc010fmu.1_Missense_Mutation_p.D23N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	23										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GAAACCCCCAGACCCAGCAGC	0.632000														11			5		0	0	0.001168	0	0
FETUB	26998	broad.mit.edu	37	3	186370139	186370139	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:186370139C>T	uc010hyq.3	+	7	1129	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	FETUB_uc011brz.2_Missense_Mutation_p.P142S|FETUB_uc003fqn.3_Missense_Mutation_p.P290S|FETUB_uc010hyr.3_Missense_Mutation_p.P253S|FETUB_uc010hys.3_Missense_Mutation_p.P142S|FETUB_uc003fqp.4_Missense_Mutation_p.P225S	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	290						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAAAAACACCCCCCCAACAGA	0.507000														78			32		0	0	0.012213	0	0
LOC728024	728024	broad.mit.edu	37	8	37605234	37605234	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:37605234C>T	uc010lvx.2	-	0	331	c.289G>A	c.(289-291)Gga>Aga	p.G97R	ERLIN2_uc003xke.4_Intron					Homo sapiens chromosome X open reading frame 56 pseudogene (LOC728024), non-coding RNA.																		AGCAGCAGTCCACACTTTGCA	0.468000														12			43		0	0	0.009718	0	0
PCSK5	5125	broad.mit.edu	37	9	78711013	78711013	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:78711013A>T	uc004akc.2	+	7	1640	c.1102A>T	c.(1102-1104)Aaa>Taa	p.K368*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.K368*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.K368*|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	368	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTACGATAAGAAAATCGTACG	0.428000														8			11		0	0	0.010729	0	0
SENP7	57337	broad.mit.edu	37	3	101090866	101090866	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:101090866T>C	uc003dut.3	-	6	893	c.782A>G	c.(781-783)gAt>gGt	p.D261G	SENP7_uc003duu.3_Missense_Mutation_p.D196G|SENP7_uc003duv.3_Missense_Mutation_p.D228G|SENP7_uc003duw.3_Missense_Mutation_p.D195G|SENP7_uc003dux.3_Missense_Mutation_p.D97G	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	261					proteolysis	nucleus	cysteine-type peptidase activity	p.T260A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGCTGAGTATCAGATATTAA	0.289000														33			15		0	0	0.004990	0	0
C8orf4	56892	broad.mit.edu	37	8	40011331	40011331	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:40011331C>T	uc003xnq.2	+	0	345	c.280C>T	c.(280-282)Cag>Tag	p.Q94*		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	94					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CAAGCTTTTCCAGTTTCTGAA	0.428000														17			57		0	0	0.003610	0	0
ITK	3702	broad.mit.edu	37	5	156665129	156665129	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:156665129G>A	uc003lwo.1	+	8	861	c.779G>A	c.(778-780)gGa>gAa	p.G260E		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	260	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCAAAGAAGGAGCCTTCATG	0.478000			T	SYK	peripheral T-cell lymphoma									281			165		0	0	0.003610	0	0
FAM193A	8603	broad.mit.edu	37	4	2692478	2692478	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:2692478C>T	uc010ick.3	+	13	2312	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	FAM193A_uc003gfd.3_Missense_Mutation_p.P571S|FAM193A_uc011bvm.2_Missense_Mutation_p.P593S|FAM193A_uc011bvn.2_Missense_Mutation_p.P571S|FAM193A_uc010icl.3_Missense_Mutation_p.P571S|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P425S	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	571										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGCCCTTCCACCTCCATCTAG	0.398000														34			14		0	0	0.002450	0	0
PAPLN	89932	broad.mit.edu	37	14	73733306	73733306	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:73733306G>A	uc010ttx.2	+	22	3524	c.3361G>A	c.(3361-3363)Gac>Aac	p.D1121N	PAPLN_uc001xnw.4_Missense_Mutation_p.D1094N|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Intron|PAPLN_uc010tty.2_Missense_Mutation_p.D1105N|PAPLN_uc010arm.3_Missense_Mutation_p.D320N|PAPLN_uc010arn.3_Intron	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1121	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGGACCGAGACCAGCGATG	0.577000														30			21		0	0	0.008871	0	0
QTRTD1	79691	broad.mit.edu	37	3	113784185	113784185	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:113784185C>T	uc003eaz.3	+	1	203	c.117C>T	c.(115-117)acC>acT	p.T39T	QTRTD1_uc003eay.3_Silent_p.T27T|QTRTD1_uc011biq.2_Intron|QTRTD1_uc011bir.2_Intron|QTRTD1_uc003eba.3_5'Flank	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	27					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GGGACCACACCATGGATATTC	0.507000														39			18		0	0	0.006122	0	0
C14orf43	91748	broad.mit.edu	37	14	74193623	74193623	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:74193623G>A	uc010tud.1	-	4	2462	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	C14orf43_uc001xos.3_Missense_Mutation_p.R4C|C14orf43_uc001xot.3_Missense_Mutation_p.R739C|C14orf43_uc001xou.3_Missense_Mutation_p.R739C|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	739	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCCAGGGCACGGTCCCTCATC	0.622000														29			16		0	0	0.003163	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686323	4686323	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:4686323G>A	uc002fyw.1	+	3	601	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	190						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCGATTGCAGGAAAAAACAGG	0.562000														62			17		0	0	0.002780	0	0
CSNK1D	1453	broad.mit.edu	37	17	80209309	80209309	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:80209309G>A	uc002kej.3	-	5	1168	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CSNK1D_uc002kei.3_Silent_p.F277F|CSNK1D_uc010wvj.2_Silent_p.F74F|CSNK1D_uc010dil.3_Non-coding_Transcript|CSNK1D_uc002keh.3_Silent_p.F142F|CSNK1D_uc010dim.1_Silent_p.F74F	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	277	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CCTGGCGATGGAACAGATTCC	0.522000														28			15		0	0	0.004990	0	0
MFAP2	4237	broad.mit.edu	37	1	17303271	17303271	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:17303271G>A	uc001azw.3	-	4	306	c.173C>T	c.(172-174)tCc>tTc	p.S58F	MFAP2_uc001azx.3_Missense_Mutation_p.S57F|MFAP2_uc001azy.3_Missense_Mutation_p.S58F|MFAP2_uc010ocl.2_Missense_Mutation_p.S57F	NM_002403	NP_059453	P55001	MFAP2_HUMAN	Homo sapiens microfibrillar-associated protein 2 (MFAP2), transcript variant 2, mRNA.	58						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ctgTTCCTCGGAGGGCCGAGG	0.662000														34			29		0	0	0.010818	0	0
UGT1A1	54658	broad.mit.edu	37	2	234591146	234591146	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:234591146C>T	uc002vut.3	+	0	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.S188F	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	191					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCTCCTCTTTCCTATGTCCCC	0.473000														118			64		0	0	0.003610	0	0
CDH17	1015	broad.mit.edu	37	8	95143165	95143165	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:95143165G>A	uc003ygh.2	-	15	2348	c.2223C>T	c.(2221-2223)gtC>gtT	p.V741V	CDH17_uc011lgo.1_Silent_p.V527V|CDH17_uc011lgp.1_Silent_p.V741V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	741	Cadherin 7.					integral to membrane	calcium ion binding	p.V741V(2)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGATCAAGACGACATACTCCC	0.478000														23			60		0	0	0.003610	0	0
WDR78	79819	broad.mit.edu	37	1	67299708	67299708	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:67299708G>A	uc001dcx.3	-	11	1913	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	WDR78_uc009waw.3_Silent_p.S365S|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	619										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TAACCCATTTGGAGATTCTTC	0.348000														39			19		0	0	0.010504	0	0
EIF4G3	8672	broad.mit.edu	37	1	21226294	21226294	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:21226294G>A	uc001bec.3	-	10	1983	c.1727C>T	c.(1726-1728)cCa>cTa	p.P576L	EIF4G3_uc010odi.2_Missense_Mutation_p.P180L|EIF4G3_uc010odj.2_Missense_Mutation_p.P575L|EIF4G3_uc009vpz.3_Missense_Mutation_p.P296L|EIF4G3_uc001bef.3_Missense_Mutation_p.P575L|EIF4G3_uc001bee.3_Missense_Mutation_p.P582L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	576					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATTACGTACTGGCTCAGCTTC	0.428000														205			101		0	0	0.003610	0	0
WNT8B	7479	broad.mit.edu	37	10	102222947	102222948	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:102222947_102222948GT>AC	uc001krb.3	+	0	136_137	c.22_23GT>AC	c.(22-24)gtg>ACg	p.V8T		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	8					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AAAGCCTTCTGTGTACATCTGT	0.436000														54			30		0	0	0.004672	0	0
CRB1	23418	broad.mit.edu	37	1	197407750	197407751	+	Missense_Mutation	DNP	AC	CA	CA	rs138089138	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:197407750_197407751AC>CA	uc001gtz.3	+	9	4032_4033	c.3823_3824AC>CA	c.(3823-3825)aca>CAa	p.T1275Q	CRB1_uc010poz.2_Missense_Mutation_p.T1251Q|CRB1_uc009wza.3_Missense_Mutation_p.T1163Q|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.T739Q|CRB1_uc010ppd.2_Missense_Mutation_p.T756Q|CRB1_uc001gub.1_Missense_Mutation_p.T924Q	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1275	EGF-like 18.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.C1274F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGCAACTGCACAGAGTTCCAG	0.441000														106			18		0	0	0.004672	0	0
SCN3A	6328	broad.mit.edu	37	2	166011109	166011109	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:166011109G>A	uc002ucx.3	-	10	1725	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	SCN3A_uc002ucy.3_Silent_p.G411G|SCN3A_uc002ucz.3_Silent_p.G411G|SCN3A_uc002uda.1_Silent_p.G280G|SCN3A_uc002udb.1_Silent_p.G280G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	411						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AATAAAATGAGCCCAAGAAAA	0.428000														39			21		0	0	0.012319	0	0
ERAP2	64167	broad.mit.edu	37	5	96228051	96228051	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:96228051G>A	uc003kmq.3	+	5	1729	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.G340D|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.G289D|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	340					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GAAAATTGGGGCCTCATTACA	0.448000														38			30		0	0	0.012213	0	0
OR2A12	346525	broad.mit.edu	37	7	143792932	143792932	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:143792932C>T	uc011kty.2	+	0	732	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L244F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCTCCCACCTCTGCGTGGTGG	0.562000														158			128		0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826141	43826141	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:43826141G>A	uc010skx.2	-	20	3062	c.3062C>T	c.(3061-3063)tCc>tTc	p.S1021F	ADAMTS20_uc001rno.1_Missense_Mutation_p.S175F|ADAMTS20_uc001rnp.1_Missense_Mutation_p.S175F	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1021	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTGGGACAGGAAAATTCATT	0.393000														31			18		0	0	0.004990	0	0
C1S	716	broad.mit.edu	37	12	7173252	7173252	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:7173252G>A	uc001qsj.3	+	9	1568	c.849G>A	c.(847-849)tgG>tgA	p.W283*	C1S_uc001qsk.3_Nonsense_Mutation_p.W283*|C1S_uc001qsl.3_Nonsense_Mutation_p.W283*|C1S_uc009zfr.3_Nonsense_Mutation_p.W116*|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	283	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.W283fs*14(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAGGGCTGGAAACTTCGCT	0.428000														37			20		0	0	0.003954	0	0
SHC1	6464	broad.mit.edu	37	1	154938947	154938947	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:154938947G>A	uc001ffv.3	-	7	1251	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	SHC1_uc001ffw.3_Missense_Mutation_p.P344S|SHC1_uc001ffx.3_Missense_Mutation_p.P234S|SHC1_uc001ffy.3_Missense_Mutation_p.P234S|SHC1_uc001ffz.1_Missense_Mutation_p.P115S	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	344	CH1.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTCAGGTGGCTCTTCCTCC	0.597000														25			5		0	0	0.000602	0	0
C7orf31	136895	broad.mit.edu	37	7	25181885	25181885	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:25181885C>T	uc003sxn.1	-	8	1487	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	309										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TCCTATCTTTCGTGTTAACTC	0.448000														56			46		0	0	0.003610	0	0
CFHR2	3080	broad.mit.edu	37	1	196919996	196919997	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196919996_196919997CC>TT	uc001gtq.1	+	2	345_346	c.268_269CC>TT	c.(268-270)cct>TTt	p.P90F	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	90	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTGTTTCTTTCCTTTTGTGGAA	0.322000														48			32		0	0	0.004672	0	0
LRIF1	55791	broad.mit.edu	37	1	111494808	111494808	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:111494808G>A	uc001eaa.3	-	1	954	c.698C>T	c.(697-699)tCt>tTt	p.S233F	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATTTACAGGAGATACATAAAT	0.398000														43			21		0	0	0.002780	0	0
KLHL23	151230	broad.mit.edu	37	2	170592479	170592479	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:170592479G>A	uc002ufh.2	+	3	1330	c.955G>A	c.(955-957)Gga>Aga	p.G319R	KLHL23_uc002ufi.2_Missense_Mutation_p.G319R	NM_001199290	NP_001186219	Q8NBE8	KLH23_HUMAN	Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA.	319										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TACATGTTTAGGACCCAACAT	0.418000														66			43		0	0	0.011902	0	0
ARID5B	84159	broad.mit.edu	37	10	63819004	63819004	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:63819004A>T	uc001jlt.2	+	6	1507	c.1051A>T	c.(1051-1053)Aac>Tac	p.N351Y	ARID5B_uc001jlu.2_Missense_Mutation_p.N108Y	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	351	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCTAACAGTTAACCTTTGGAC	0.299000														28			17		0	0	0.007413	0	0
SNX29	92017	broad.mit.edu	37	16	12618580	12618580	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:12618580C>G	uc002dby.4	+	19	2262	c.1045C>G	c.(1045-1047)Cgg>Ggg	p.R349G		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	349	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTGGAGGAACGGAGAAAGCA	0.517000														22			15		0	0	0.002450	0	0
IL2RA	3559	broad.mit.edu	37	10	6066298	6066298	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:6066298T>C	uc001iiz.2	-	2	495	c.276A>G	c.(274-276)aaA>aaG	p.K92K	IL2RA_uc009xih.2_Silent_p.K92K|IL2RA_uc001ija.1_Silent_p.K54K	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	92					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTGTCACTTGTTTCGTTGTGT	0.413000														30			15		0	0	0.002450	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801345	140801345	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140801345G>A	uc003lkq.2	+	0	809	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.R184Q|PCDHGC5_uc003lkp.2_Missense_Mutation_p.R184Q	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	183	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAACTGCGGGGCAGAACG	0.542000														14			9		0	0	0.008291	0	0
ZNF143	7702	broad.mit.edu	37	11	9519272	9519272	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:9519272C>T	uc001mhr.3	+	9	1011	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	ZNF143_uc009yfu.3_Missense_Mutation_p.R297W|ZNF143_uc010rby.2_Missense_Mutation_p.R267W	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	298					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAAGCCATATCGGTGTTCGGA	0.328000														9			32		0	0	0.004289	0	0
TACC2	10579	broad.mit.edu	37	10	123843781	123843781	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:123843781G>A	uc001lfv.3	+	3	2126	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G589E|TACC2_uc010qtv.2_Missense_Mutation_p.G589E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	589						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTGATGGTGGAGACCCAGGG	0.547000														37			13		0	0	0.002450	0	0
LRP2	4036	broad.mit.edu	37	2	170048526	170048526	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:170048526C>T	uc002ues.3	-	47	9061	c.8848G>A	c.(8848-8850)Gat>Aat	p.D2950N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2950	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACTCGGAATCCGAGCAGTTT	0.463000														33			19		0	0	0.010504	0	0
MEGF11	84465	broad.mit.edu	37	15	66206298	66206298	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:66206298C>T	uc002apm.2	-	19	2628	c.2487G>A	c.(2485-2487)atG>atA	p.M829I	MEGF11_uc002apl.2_Missense_Mutation_p.M754I|MEGF11_uc002apn.1_Missense_Mutation_p.M829I	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	829						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TCAGCTCCTCCATCATGAGGG	0.612000														26			10		0	0	0.008291	0	0
WAPAL	23063	broad.mit.edu	37	10	88218804	88218804	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:88218804C>T	uc001kdn.3	-	12	2719	c.2710G>A	c.(2710-2712)Gaa>Aaa	p.E904K	WAPAL_uc009xsv.3_Missense_Mutation_p.E181K|WAPAL_uc001kdo.3_Missense_Mutation_p.E867K|WAPAL_uc009xsw.3_Missense_Mutation_p.E861K	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	867	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTTTGATTTTCGGGATTATGC	0.318000														31			17		0	0	0.010504	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749040	153749040	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:153749040G>T	uc001fcz.3	+	1	920	c.855G>T	c.(853-855)atG>atT	p.M285I	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	285					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAGAGCCATGGGGCTCCACC	0.627000														179			44		1.30916e-28	1.43939e-28	0.003610	1	0
PRKG2	5593	broad.mit.edu	37	4	82073116	82073116	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:82073116G>A	uc003hmh.2	-	6	1096	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Silent_p.I361I	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	361					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAATTCACCTGATAAGAGCTT	0.323000														76			28		0	0	0.002836	0	0
MAST2	23139	broad.mit.edu	37	1	46488950	46488950	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:46488950G>A	uc001cov.3	+	13	1814	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	MAST2_uc001cow.3_Missense_Mutation_p.D511N|MAST2_uc001coy.1_Missense_Mutation_p.D185N|MAST2_uc001coz.1_Missense_Mutation_p.D396N|MAST2_uc009vya.3_Missense_Mutation_p.D433N|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	511					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCTGAAGAGGACTTCGAGAC	0.547000														91			64		0	0	0.003610	0	0
RHOT1	55288	broad.mit.edu	37	17	30533950	30533950	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:30533950G>A	uc002hgw.3	+	16	1677	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	RHOT1_uc002hgy.3_Missense_Mutation_p.E480K|RHOT1_uc002hgz.3_Missense_Mutation_p.E480K|RHOT1_uc002hha.3_Missense_Mutation_p.E353K|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Missense_Mutation_p.E353K|RHOT1_uc010wby.2_Missense_Mutation_p.E480K|RHOT1_uc002hhb.3_Missense_Mutation_p.E459K|RHOT1_uc002hgv.3_Missense_Mutation_p.E480K	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	480	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CTCAGAATCGGAATTTCTAAC	0.303000														27			17		0	0	0.004007	0	0
FERMT2	10979	broad.mit.edu	37	14	53347814	53347814	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:53347814C>T	uc001xac.3	-	5	981	c.795G>A	c.(793-795)aaG>aaA	p.K265K	FERMT2_uc001xad.3_Silent_p.K265K|FERMT2_uc001xae.3_Silent_p.K265K|FERMT2_uc001xaf.3_Silent_p.K265K	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	265	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CCTCATTTTCCTTCACATCTT	0.378000														15			15		0	0	0.006122	0	0
PTF1A	256297	broad.mit.edu	37	10	23481535	23481536	+	Missense_Mutation	DNP	TT	AC	AC			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:23481535_23481536TT>AC	uc001irp.3	+	0	76_77	c.76_77TT>AC	c.(76-78)ttc>ACc	p.F26T		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	26					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGAGGACGACTTCTTCACCGAC	0.658000														186			113		0	0	0.004672	0	0
ROBO2	6092	broad.mit.edu	37	3	77599980	77599980	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:77599980C>T	uc011bgk.2	+	8	1726	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ROBO2_uc021xat.1_Silent_p.F373F|ROBO2_uc003dpy.4_Silent_p.F357F|ROBO2_uc003dpz.3_Silent_p.F361F|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	357	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCTACTTTTCCCAAACCAAC	0.413000														36			18		0	0	0.008871	0	0
ROCK1	6093	broad.mit.edu	37	18	18534804	18534804	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:18534804G>A	uc002kte.3	-	30	4734	c.3793C>T	c.(3793-3795)Cat>Tat	p.H1265Y		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1265	Auto-inhibitory.|PH.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CACTTAACATGGCATCTTCGA	0.408000														44			19		0	0	0.006122	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545000	196545000	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:196545000C>T	uc002utg.4	+	1	448	c.234C>T	c.(232-234)tcC>tcT	p.S78S	SLC39A10_uc002uth.4_Silent_p.S78S|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	78					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GAAGATTATCCTTTTTTGGTT	0.338000														40			25		0	0	0.006320	0	0
RHBDF2	79651	broad.mit.edu	37	17	74477580	74477580	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74477580C>T	uc002jrq.2	-	2	321	c.27G>A	c.(25-27)ggG>ggA	p.G9G	RHBDF2_uc021udh.1_Silent_p.G9G|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Silent_p.G9G|RHBDF2_uc002jrs.1_Silent_p.G9G	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	9					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGGACACGCTCCCGCCATTCT	0.682000														18			15		0	0	0.003163	0	0
PRKCB	5579	broad.mit.edu	37	16	24196784	24196784	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:24196784C>T	uc002dmd.3	+	14	1815	c.1618C>T	c.(1618-1620)Ccc>Tcc	p.P540S	PRKCB_uc002dme.3_Missense_Mutation_p.P540S	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	540	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CATACAGGCACCCTTTGAAGG	0.557000														44			20		0	0	0.007413	0	0
PMP2	5375	broad.mit.edu	37	8	82355666	82355666	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:82355666G>A	uc003ycb.1	-	3	464	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PMP2_uc010lzv.1_Non-coding_Transcript	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	122						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TGCACACCACGCCCTTCATTT	0.313000														20			48		0	0	0.003610	0	0
PTPRS	5802	broad.mit.edu	37	19	5215357	5215357	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:5215357G>A	uc002mbv.3	-	27	4495	c.4261C>T	c.(4261-4263)Cgc>Tgc	p.R1421C	PTPRS_uc002mbu.1_Missense_Mutation_p.R990C|PTPRS_uc010xin.2_Missense_Mutation_p.R963C|PTPRS_uc002mbw.3_Missense_Mutation_p.R1383C|PTPRS_uc002mbx.3_Missense_Mutation_p.R978C|PTPRS_uc002mby.3_Missense_Mutation_p.R974C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1421	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGGCATAGCGGTTCTTCGGC	0.572000														60			32		0	0	0.009535	0	0
SV2C	22987	broad.mit.edu	37	5	75490882	75490882	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:75490882G>A	uc003kei.1	+	2	853	c.719G>A	c.(718-720)gGt>gAt	p.G240D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	240					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTTGTCCAAGGTTATGGCTTC	0.403000														155			90		0	0	0.003610	0	0
SLC22A20	440044	broad.mit.edu	37	11	65004342	65004342	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:65004342C>T	uc021qlh.1	+	8	1592	c.909C>T	c.(907-909)atC>atT	p.I303I	SLC22A20_uc001odi.4_Non-coding_Transcript			A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 2, non-coding RNA.	518					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TGGAGACCATCGCAGCCATGG	0.642000														20			66		0	0	0.003610	0	0
SOX12	6666	broad.mit.edu	37	20	306916	306916	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:306916G>A	uc002wdh.3	+	0	678	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_006943	NP_008874	O15370	SOX12_HUMAN	Homo sapiens SRY (sex determining region Y)-box 12 (SOX12), mRNA.	116					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			AAAAGAGCAAgggggcgcccg	0.741000														4			5		0	0	0.000602	0	0
abParts	0	broad.mit.edu	37	2	90249242	90249242	+	RNA	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:90249242T>C	uc010yts.2	+	39		c.5077T>C								Parts of antibodies, mostly variable regions.																		CAAAAGCCCCTAAGCTCTTCA	0.502000														97			76		0	0	0.003610	0	0
CREB5	9586	broad.mit.edu	37	7	28758481	28758481	+	Silent	SNP	C	T	T	rs150680376	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:28758481C>T	uc003szq.3	+	5	966	c.576C>T	c.(574-576)tcC>tcT	p.S192S	CREB5_uc003szo.3_Silent_p.S159S|CREB5_uc003szr.3_Silent_p.S185S|CREB5_uc003szs.3_Silent_p.S53S|CREB5_uc011jzr.2_Silent_p.S41S	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	192					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S192S(2)|p.S192F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CAGGATCTTCCGCCGTCTTGA	0.517000														363			251		0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:18716344G>A	uc001rdt.3	+	26	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1272K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E1050K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1231	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCAACAACGAAACAAGCCT	0.418000														26			10		0	0	0.006214	0	0
CPOX	1371	broad.mit.edu	37	3	98300346	98300346	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:98300346T>C	uc003dsx.3	-	5	1289	c.1182A>G	c.(1180-1182)gaA>gaG	p.E394E		NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	394	Important for dimerization.					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCAGATTAAATTCTACATACC	0.388000														31			16		0	0	0.004990	0	0
MYOG	4656	broad.mit.edu	37	1	203054834	203054835	+	Missense_Mutation	DNP	CC	TT	TT	rs148417428		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:203054834_203054835CC>TT	uc001gzd.3	-	0	543_544	c.255_256GG>AA	c.(253-258)gcggcc>gcAAcc	p.A86T		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	86					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CTCAGTGTGGCCGCCCGCCGCC	0.653000														92			23		0	0	0.004672	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458979	45458979	+	RNA	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:45458979C>T	uc001rol.3	-	0		c.216G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCTTGTATTTCCCCAGCTCAT	0.433000														14			3		0	0	0.004672	0	0
MRC2	9902	broad.mit.edu	37	17	60742216	60742216	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:60742216C>T	uc002jad.3	+	1	828	c.426C>T	c.(424-426)tcC>tcT	p.S142S		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	142	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCAACATATCCAAGCCTGGCA	0.612000														52			21		0	0	0.002299	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065005	62065005	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:62065005C>T	uc001ntd.1	-	1	235	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	61						extracellular region	binding			lung(1)|prostate(1)	2						TGCTTCACTTCCAACTTGGCT	0.423000														50			189		0	0	0.003610	0	0
ENPEP	2028	broad.mit.edu	37	4	111398175	111398175	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:111398175G>A	uc003iab.4	+	0	947	c.605G>A	c.(604-606)gGa>gAa	p.G202E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	202					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCCCTCGTGGGATTTTATAGA	0.498000														52			31		0	0	0.002836	0	0
ODZ3	55714	broad.mit.edu	37	4	183664415	183664415	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:183664415A>G	uc003ivd.1	+	17	3547	c.3472A>G	c.(3472-3474)Att>Gtt	p.I1158V	ODZ3_uc003ive.1_Missense_Mutation_p.I564V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1158					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAGGCGCAGCATTTCCTGCCC	0.532000														35			14		0	0	0.002450	0	0
EXO1	9156	broad.mit.edu	37	1	242020715	242020715	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:242020715T>C	uc021plj.1	+	4	788	c.474T>C	c.(472-474)ctT>ctC	p.L158L	EXO1_uc001hzh.3_Silent_p.L158L|EXO1_uc009xgq.3_Silent_p.L158L|EXO1_uc021plk.1_Silent_p.L158L	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	158	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGGCCTATCTTAACAAAGCGG	0.468000								Editing and processing nucleases						97			23		0	0	0.003954	0	0
DOCK1	1793	broad.mit.edu	37	10	129216633	129216633	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:129216633A>C	uc010qun.2	+	44	4584	c.4520A>C	c.(4519-4521)gAa>gCa	p.E1507A	DOCK1_uc001ljt.3_Missense_Mutation_p.E1486A|DOCK1_uc009yaq.3_Missense_Mutation_p.E481A	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1486	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTGCAGGTGGAAATCAGCCCC	0.607000														15			6		0	0	0.001168	0	0
KLHL4	56062	broad.mit.edu	37	X	86890699	86890699	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:86890699G>A	uc004efa.2	+	8	2031	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	KLHL4_uc004efb.2_Missense_Mutation_p.G617R	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	617						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G617R(3)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACATACAATGGATTCTTATA	0.458000														5			35		0	0	0.005524	0	0
AXL	558	broad.mit.edu	37	19	41748854	41748854	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:41748854C>T	uc010ehj.3	+	10	1569	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	AXL_uc010ehi.1_Missense_Mutation_p.A460V|AXL_uc010ehk.3_Missense_Mutation_p.A451V|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	460						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAGTCGTGGCCGCTGCCTGT	0.567000														45			21		0	0	0.012319	0	0
HSPA12B	116835	broad.mit.edu	37	20	3721513	3721513	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:3721513C>T	uc002wjd.3	+	2	237	c.95C>T	c.(94-96)aCc>aTc	p.T32I	HSPA12B_uc010zqj.2_Intron|HSPA12B_uc010zqi.2_Missense_Mutation_p.T32I|HSPA12B_uc002wje.3_Intron	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	32							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TCCCCGAGGACCCAGGAAAGC	0.657000														28			9		0	0	0.008291	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142224037	142224037	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:142224037G>A	uc003vyi.2	-	1	147	c.130C>T	c.(130-132)Cct>Tct	p.P44S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CCAGAAATAGGATCACACCAA	0.488000														38			30		0	0	0.009535	0	0
SMCHD1	23347	broad.mit.edu	37	18	2750448	2750448	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:2750448C>T	uc002klm.4	+	31	4297	c.4108C>T	c.(4108-4110)Cgt>Tgt	p.R1370C	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1370					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAACCCGTTCGTCTCAATGT	0.348000														20			6		0	0	0.001984	0	0
UNC13C	440279	broad.mit.edu	37	15	54914599	54914599	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:54914599C>T	uc021smr.1	+	28	6175	c.6175C>T	c.(6175-6177)Cat>Tat	p.H2059Y	UNC13C_uc021sms.1_Missense_Mutation_p.H2061Y|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2061	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2059R(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACGGGAGATCATAAAGTCAC	0.438000														37			18		0	0	0.008871	0	0
SHE	126669	broad.mit.edu	37	1	154461714	154461715	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:154461714_154461715GG>AA	uc001ffb.3	-	2	860_861	c.836_837CC>TT	c.(835-837)tcc>tTT	p.S279F	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	279										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGTCCTTGGAACTCCGTCT	0.629000														94			23		0	0	0.004672	0	0
KRT6A	3853	broad.mit.edu	37	12	52881598	52881598	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:52881598G>A	uc001sam.3	-	8	1810	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	534	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCCAATGGCTCTGCCACT	0.587000														64			40		0	0	0.013114	0	0
SLC35B1	10237	broad.mit.edu	37	17	47783627	47783627	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:47783627G>A	uc002iph.1	-	2	365	c.278C>T	c.(277-279)tCc>tTc	p.S93F	SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.S93F	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	93						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ACCCAGATAGGAGATAGAACA	0.468000														46			22		0	0	0.002299	0	0
MEGF8	1954	broad.mit.edu	37	19	42880504	42880504	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:42880504A>G	uc002otl.4	+	40	8549	c.7914A>G	c.(7912-7914)ccA>ccG	p.P2638P	MEGF8_uc002otm.4_Silent_p.P2246P|MEGF8_uc002otn.4_Silent_p.P299P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2705						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCTGCTTCCCACCTGACCCTA	0.697000														36			12		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179558399	179558399	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179558399C>T	uc021vsy.1	-	115	28024	c.27799G>A	c.(27799-27801)Gaa>Aaa	p.E9267K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5928K|TTN_uc010fre.1_Missense_Mutation_p.E378K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10194							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACAATTTCCTTTTGTACC	0.299000														17			9		0	0	0.008291	0	0
STARD13	90627	broad.mit.edu	37	13	33701617	33701617	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:33701617G>A	uc001uuw.3	-	5	1941	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	STARD13_uc001uuu.3_Silent_p.I597I|STARD13_uc001uuv.3_Silent_p.I487I|STARD13_uc001uux.3_Silent_p.I570I|STARD13_uc010abh.1_Silent_p.I590I|STARD13_uc021rhz.1_Silent_p.I597I|STARD13_uc021ria.1_Silent_p.I487I	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	605					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCTGGCTGCTGATGTGGGGCG	0.627000														4			4		0	0	0.009096	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178457	42178457	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:42178457C>T	uc001zos.3	-	6	1224	c.891G>A	c.(889-891)cgG>cgA	p.R297R		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	332					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGGAAAATCCCGCGCCTCCA	0.627000														22			6		0	0	0.003080	0	0
STXBP5L	9515	broad.mit.edu	37	3	121097730	121097730	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:121097730G>A	uc003eec.4	+	21	2556	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	STXBP5L_uc011bji.2_Missense_Mutation_p.E782K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	806					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.T805A(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTTACAACAGAAGGTATGTT	0.383000														18			13		0	0	0.002450	0	0
MXRA5	25878	broad.mit.edu	37	X	3235332	3235332	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:3235332G>A	uc004crg.4	-	5	6547	c.6390C>T	c.(6388-6390)tcC>tcT	p.S2130S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2130	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTGCGCGCGGAGCCTACCA	0.667000														2			20		0	0	0.007413	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045108	55045108	+	RNA	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:55045108C>A	uc010yfa.1	+	2		c.334C>A			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CTGGCCTTTCCAACAACATCA	0.502000														22			18		5.3912e-06	5.82218e-06	0.006122	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76592486	76592486	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:76592486G>A	uc002fex.1	+	22	3981	c.3842G>A	c.(3841-3843)aGg>aAg	p.R1281K	CNTNAP4_uc002feu.1_Missense_Mutation_p.R1277K|CNTNAP4_uc002fev.1_Missense_Mutation_p.R1142K|CNTNAP4_uc010chb.1_Missense_Mutation_p.R1205K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1278					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAGGCAAAAAGGTCAGAGAAT	0.378000														27			11		0	0	0.008291	0	0
NPTXR	23467	broad.mit.edu	37	22	39222732	39222732	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39222732G>A	uc003awk.3	-	2	1025	c.871C>T	c.(871-873)Cca>Tca	p.P291S		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	291						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AAGGCATCTGGAGGACTGTAG	0.592000														20			12		0	0	0.001368	0	0
ARF1	375	broad.mit.edu	37	1	228285396	228285396	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:228285396C>T	uc001hrs.3	+	3	507	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	ARF1_uc001hrr.3_Silent_p.L122L|ARF1_uc001hru.3_Silent_p.L122L|ARF1_uc001hrv.3_Silent_p.L122L	NM_001658	NP_001649	P84077	ARF1_HUMAN	Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA.	122					COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TGCTGTCCTCCTGGTGTTCGC	0.632000														21			40		0	0	0.009718	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159904	167159904	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:167159904G>A	uc003fes.1	-	8	1312	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	SERPINI2_uc003fer.1_Missense_Mutation_p.S404L|SERPINI2_uc003fet.1_Missense_Mutation_p.S404L	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	404					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CATTCACAGTGAATCTAAATC	0.318000														17			5		0	0	0.001168	0	0
ARID3B	10620	broad.mit.edu	37	15	74882180	74882180	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:74882180C>T	uc002aye.3	+	4	918	c.717C>T	c.(715-717)atC>atT	p.I239I	ARID3B_uc002ayd.3_Silent_p.I239I|ARID3B_uc010bjs.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	239	ARID.|Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCAACCGAATCCCCATCATGG	0.522000														48			14		0	0	0.010504	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998737	27998737	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:27998737C>T	uc004dbx.1	-	0	830	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	239								p.D239N(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACATTAATATCGTGACCACTC	0.512000														6			36		0	0	0.004289	0	0
PDE6C	5146	broad.mit.edu	37	10	95394530	95394530	+	Missense_Mutation	SNP	G	A	A	rs148611776		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:95394530G>A	uc001kiu.4	+	8	1273	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	379	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACCTGTAGACGAAACTGGTTG	0.353000														18			12		0	0	0.001855	0	0
EVPL	2125	broad.mit.edu	37	17	74004335	74004335	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74004335G>A	uc010wss.1	-	21	5245	c.5017C>T	c.(5017-5019)Cag>Tag	p.Q1673*	EVPL_uc002jqi.2_Nonsense_Mutation_p.Q1651*|EVPL_uc010wst.1_Nonsense_Mutation_p.Q1121*	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1651	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCGTAGATCTGGTCCTTCTCG	0.672000														26			28		0	0	0.004656	0	0
SORBS1	10580	broad.mit.edu	37	10	97096832	97096832	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:97096832G>A	uc001kkp.3	-	27	3130	c.3085C>T	c.(3085-3087)Ccc>Tcc	p.P1029S	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P983S|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1029					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GACAGGGAGGGACTGGCCCTT	0.592000														23			10		0	0	0.010729	0	0
MYCBP2	23077	broad.mit.edu	37	13	77655567	77655567	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:77655567G>A	uc021rks.1	-	64	11680	c.11413C>T	c.(11413-11415)Ctt>Ttt	p.L3805F	MYCBP2_uc010aev.3_Missense_Mutation_p.L3171F|MYCBP2_uc001vke.3_Missense_Mutation_p.L387F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3767	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTACCCCAAGATCTCGGGAA	0.383000														23			46		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681088	176681088	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:176681088C>T	uc001gkz.3	+	11	4933	c.3769C>T	c.(3769-3771)Ctg>Ttg	p.L1257L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1257					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAAGGTAGCCTGAAGAAAGA	0.468000														69			13		0	0	0.001855	0	0
PDGFRB	5159	broad.mit.edu	37	5	149510178	149510178	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:149510178C>T	uc003lro.3	-	8	1760	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	PDGFRB_uc010jhd.3_Missense_Mutation_p.E270K	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	431	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTGTCTGTTCCCCACTGTCA	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		90			53		0	0	0.003610	0	0
KIF6	221458	broad.mit.edu	37	6	39507938	39507938	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:39507938C>T	uc003oot.2	-	12	1581	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.A287T|KIF6_uc011dua.1_Missense_Mutation_p.A496T|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	496					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCATGCCAGCCAAGTGGAGA	0.463000														168			47		0	0	0.003610	0	0
FCRL5	83416	broad.mit.edu	37	1	157497650	157497650	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:157497650G>A	uc009wsm.3	-	8	1875	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S	FCRL5_uc001fqu.3_Missense_Mutation_p.P573S|FCRL5_uc010phv.1_Missense_Mutation_p.P573S|FCRL5_uc010phw.1_Missense_Mutation_p.P488S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	573	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.P573S(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGGGCCCTGGGAACCCTGAGG	0.527000														89			15		0	0	0.004990	0	0
CFHR1	3078	broad.mit.edu	37	1	196801096	196801096	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196801096G>A	uc001gtn.3	+	5	1074	c.960G>A	c.(958-960)ggG>ggA	p.G320G	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Silent_p.G224G	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	320	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTTGGGATGGGAAACTGGAGT	0.348000														64			19		0	0	0.002299	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20249284C>T	uc010tku.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000														59			27		0	0	0.004656	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849066	26849066	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:26849066C>T	uc001iss.3	+	11	1509	c.1188C>T	c.(1186-1188)atC>atT	p.I396I		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	396	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCCAGTATATCAAGTATCTCT	0.463000														79			58		0	0	0.003610	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025214	50025214	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:50025214C>T	uc001rur.1	+	1	112	c.49C>T	c.(49-51)Cct>Tct	p.P17S	PRPF40B_uc001rup.1_Missense_Mutation_p.P39S|PRPF40B_uc001ruq.1_Missense_Mutation_p.P11S|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	17	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCCACCCTTTCCTCCGATGGG	0.602000														89			70		0	0	0.003610	0	0
CCDC90A	63933	broad.mit.edu	37	6	13801538	13801539	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:13801538_13801539GG>AA	uc003nbc.2	-	3	853_854	c.722_723CC>TT	c.(721-723)gcc>gTT	p.A241V	CCDC90A_uc010jpf.3_Non-coding_Transcript	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA.	241						integral to membrane|mitochondrion				cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				CTGCTCTGAGGGCTGAAAATTC	0.332000														151			32		0	0	0.004672	0	0
COX15	1355	broad.mit.edu	37	10	101476172	101476172	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:101476172C>T	uc001kqb.4	-	7	1651	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	COX15_uc001kqc.4_Missense_Mutation_p.R345Q|COX15_uc010qpj.2_Missense_Mutation_p.R166Q	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	345					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	p.R345L(2)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GGGAATTCTCCGAGAGAGGAA	0.458000														65			36		0	0	0.004289	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015556	129015556	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:129015556G>A	uc003kvb.1	+	16	2588	c.2588G>A	c.(2587-2589)cGa>cAa	p.R863Q	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	863	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R863*(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATGTAAGACGAGGCCTCTGG	0.443000														39			23		0	0	0.012319	0	0
NLRP4	147945	broad.mit.edu	37	19	56379170	56379170	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56379170A>G	uc002qmd.4	+	5	2704	c.2282A>G	c.(2281-2283)aAc>aGc	p.N761S	NLRP4_uc002qmf.3_Missense_Mutation_p.N686S|NLRP4_uc010etf.3_Intron	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	761							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTATCCTGCAACCAGTTAGAC	0.512000														38			31		0	0	0.009535	0	0
GPR123	84435	broad.mit.edu	37	10	134942560	134942560	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:134942560G>A	uc001llw.3	+	15	3385	c.3385G>A	c.(3385-3387)Gac>Aac	p.D1129N	GPR123_uc001llx.4_Missense_Mutation_p.D410N			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	410						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTTCGGGCACGACCCCCACCT	0.682000														6			3		0	0	0.009096	0	0
CORIN	10699	broad.mit.edu	37	4	47746427	47746428	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:47746427_47746428CC>TT	uc003gxm.3	-	4	883_884	c.790_791GG>AA	c.(790-792)gga>AAa	p.G264K	CORIN_uc011bzf.2_Missense_Mutation_p.G125K|CORIN_uc011bzg.2_Missense_Mutation_p.G197K|CORIN_uc011bzh.1_Missense_Mutation_p.G264K|CORIN_uc011bzi.1_Missense_Mutation_p.G264K|CORIN_uc003gxn.4_Missense_Mutation_p.G264K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	264					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.G264*(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACATTGCTTTCCGTTTTCCTGC	0.381000														42			33		0	0	0.004672	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385909	21385910	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:21385909_21385910CC>TT	uc002zud.3	-	1	260_261	c.192_193GG>AA	c.(190-195)aaggag>aaAAag	p.E65K	SLC7A4_uc002zue.3_Missense_Mutation_p.E65K	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	65					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGCCACCTCCTTGGCCACGG	0.658000														23			5		0	0	0.004672	0	0
NUP214	8021	broad.mit.edu	37	9	134073012	134073013	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:134073012_134073013CC>AT	uc004cag.3	+	28	4242_4243	c.4131_4132CC>AT	c.(4129-4134)cccccg>ccATcg	p.P1378S	NUP214_uc004cah.3_Missense_Mutation_p.P1368S|NUP214_uc004cai.3_Missense_Mutation_p.P808S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P204S|NUP214_uc011mcf.1_Missense_Mutation_p.P155S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1378	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		P -> L (in a breast cancer sample; somatic mutation).		carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.P1378L(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTACTGCCCCCCCGGTGTTAGG	0.540000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									16			27		0	0	0.004672	0	0
IDH3A	3419	broad.mit.edu	37	15	78452546	78452546	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:78452546A>C	uc002bdd.3	+	3	314	c.287A>C	c.(286-288)aAa>aCa	p.K96T	IDH3A_uc010umt.2_Missense_Mutation_p.K96T|IDH3A_uc010umu.2_Intron|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.K46T|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.K9T	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	96					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	ATGGGCTTGAAAGGTAGCACT	0.458000														15			15		0	0	0.004990	0	0
CALB2	794	broad.mit.edu	37	16	71411569	71411569	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:71411569G>A	uc002faa.4	+	4	342	c.262_splice	c.e4-1	p.L88_splice	CALB2_uc010vme.2_Splice_Site|CALB2_uc002fac.4_Splice_Site_p.L88_splice	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	88	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TATCTTCACAGCTGGCGCAGA	0.567000														47			26		0	0	0.006320	0	0
FAT3	120114	broad.mit.edu	37	11	92086820	92086820	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:92086820G>A	uc001pdj.4	+	0	1559	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	514	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCGCTAGCCTGAATTTGTTAC	0.378000										TCGA Ovarian(4;0.039)				124			360		0	0	0.003610	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514917	233514917	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:233514917C>T	uc001hvt.4	+	8	2426	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	KIAA1804_uc001hvu.4_Missense_Mutation_p.A168V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	722					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	p.A722S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ACGGAGTCAGCTCTGTATGGG	0.547000														99			24		0	0	0.003954	0	0
ALPK2	115701	broad.mit.edu	37	18	56202572	56202572	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:56202572C>T	uc002lhj.4	-	4	5061	c.4847G>A	c.(4846-4848)gGa>gAa	p.G1616E	ALPK2_uc002lhk.1_Missense_Mutation_p.G947E	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1616							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTGACATTTCCTTCAGGAGA	0.448000														52			22		0	0	0.010504	0	0
GHR	2690	broad.mit.edu	37	5	42566007	42566007	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:42566007G>A	uc021xxv.1	+	1	189	c.52G>A	c.(52-54)Gca>Aca	p.A18T	GHR_uc003jmt.3_Missense_Mutation_p.A11T|GHR_uc003jmu.3_Missense_Mutation_p.A11T|GHR_uc003jmv.2_Missense_Mutation_p.A11T|GHR_uc021xxw.1_Missense_Mutation_p.A11T|GHR_uc021xxx.1_Missense_Mutation_p.A11T|GHR_uc021xxy.1_Missense_Mutation_p.A11T|GHR_uc021xxz.1_Missense_Mutation_p.A11T|GHR_uc021xya.1_Missense_Mutation_p.A11T|GHR_uc021xyb.1_Missense_Mutation_p.A11T|GHR_uc021xyc.1_Missense_Mutation_p.A11T|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.A11T	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	11					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTGACCTTGGCACTGGCAGG	0.453000														68			42		0	0	0.003610	0	0
STAU2	27067	broad.mit.edu	37	8	74528007	74528007	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:74528007G>A	uc003xzm.3	-	7	922	c.581C>T	c.(580-582)tCa>tTa	p.S194L	STAU2_uc011lfh.2_Missense_Mutation_p.S90L|STAU2_uc003xzn.3_Missense_Mutation_p.S162L|STAU2_uc011lfg.2_Missense_Mutation_p.S22L|STAU2_uc003xzo.3_Missense_Mutation_p.S194L|STAU2_uc003xzq.3_5'UTR|STAU2_uc003xzp.3_Missense_Mutation_p.S162L|STAU2_uc011lfi.2_Missense_Mutation_p.S156L|STAU2_uc010lzk.3_Missense_Mutation_p.S162L|STAU2_uc010lzl.1_Missense_Mutation_p.S22L	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	194					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ATCCTTTCCTGATTCACCATT	0.333000														13			40		0	0	0.006999	0	0
AIM1L	55057	broad.mit.edu	37	1	26672224	26672224	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:26672224G>A	uc001bmd.4	-	1	1075	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CAGGCTGCAGGGGCATCCTGA	0.642000														9			7		0	0	0.003080	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704332	56704332	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56704332T>A	uc010ygh.2	-	0	90	c.90A>T	c.(88-90)gaA>gaT	p.E30D		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAGTTGAGTTTCTGGGGACG	0.557000														8			9		0	0	0.004482	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567922	140567922	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140567922C>T	uc003liw.1	+	0	1030	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAATCCTCCTGAACT	0.378000														38			13		0	0	0.004990	0	0
VPS13D	55187	broad.mit.edu	37	1	12321991	12321991	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:12321991C>T	uc001atv.3	+	12	1589	c.1448C>T	c.(1447-1449)gCc>gTc	p.A483V	VPS13D_uc001atw.3_Missense_Mutation_p.A483V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	483					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTGCAGATGCCTCGTGTATG	0.438000														57			36		0	0	0.003610	0	0
CEP250	11190	broad.mit.edu	37	20	34087914	34087914	+	Missense_Mutation	SNP	C	T	T	rs150723097		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:34087914C>T	uc021wco.1	+	27	4461	c.3814C>T	c.(3814-3816)Cgt>Tgt	p.R1272C	CEP250_uc010zve.2_Missense_Mutation_p.R640C	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1272	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACTGGAAGAGCGTCTAACTGA	0.512000														78			35		0	0	0.004878	0	0
DSG3	1830	broad.mit.edu	37	18	29055630	29055630	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:29055630G>A	uc002kws.3	+	15	2516	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	DSG3_uc002kwt.3_Missense_Mutation_p.E85K	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	803					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGTGCGGAGGAAGACGATGG	0.423000														42			27		0	0	0.005443	0	0
NFXL1	152518	broad.mit.edu	37	4	47886451	47886451	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:47886451G>T	uc010igh.3	-	14	2005	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	NFXL1_uc003gxp.3_Missense_Mutation_p.Q610K|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.Q610K	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	610						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CCTGTAGGCTGGTGCTACAAA	0.383000														18			17		3.52763e-06	3.81246e-06	0.004990	1	0
PCSK5	5125	broad.mit.edu	37	9	78799588	78799588	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:78799588G>A	uc004akc.2	+	17	2736	c.2198_splice	c.e17-1	p.K733_splice	PCSK5_uc004ajz.3_Splice_Site_p.K733_splice|PCSK5_uc004aka.3_Splice_Site|PCSK5_uc004akb.3_Intron	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	733	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTTTTAACAGAGAAAAATCT	0.363000														5			12		0	0	0.001855	0	0
CXXC5	51523	broad.mit.edu	37	5	139060873	139060873	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:139060873C>T	uc010jfg.1	+	1	1055	c.765C>T	c.(763-765)tcC>tcT	p.S255S	CXXC5_uc003let.2_Silent_p.S255S	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	255					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCAGCTCCGGCAAGAAGA	0.642000														56			24		0	0	0.003330	0	0
CELSR3	1951	broad.mit.edu	37	3	48666117	48666117	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48666117G>A	uc003cuf.1	-	50	11845	c.11845C>T	c.(11845-11847)Cgc>Tgc	p.R3949C	CELSR3_uc003cug.3_Missense_Mutation_p.R523C|CELSR3_uc011bbp.2_Missense_Mutation_p.R508C|CELSR3_uc010hke.3_Missense_Mutation_p.R395C|CELSR3_uc003cuk.3_Missense_Mutation_p.R437C|CELSR3_uc003cuh.3_Missense_Mutation_p.R544C|CELSR3_uc003cui.3_Missense_Mutation_p.R544C|CELSR3_uc003cuj.3_Missense_Mutation_p.R544C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.R544C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCGAGGAGCGGAAGACCTTC	0.602000														29			16		0	0	0.004007	0	0
EPHB3	2049	broad.mit.edu	37	3	184298565	184298565	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:184298565C>T	uc003foz.3	+	12	2874	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	813	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CATAGCCTATCGGAAGTTCAC	0.607000														29			24		0	0	0.003330	0	0
SNRNP200	23020	broad.mit.edu	37	2	96957528	96957528	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:96957528G>A	uc002svu.3	-	16	2403	c.2271C>T	c.(2269-2271)gcC>gcT	p.A757A		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	757	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTTCTGTGGAGGCTGAGCCCT	0.587000														24			11		0	0	0.010729	0	0
TMEM2	23670	broad.mit.edu	37	9	74332991	74332991	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:74332991G>A	uc011lsa.1	-	12	2812	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	TMEM2_uc010mos.2_Nonsense_Mutation_p.R695*|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	758						integral to membrane		p.R758*(2)		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)		TGATGAGGTCGAAATCTAGGG	0.338000														13			26		0	0	0.005443	0	0
MAK	4117	broad.mit.edu	37	6	10830855	10830855	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:10830855C>G	uc021ylk.1	-	1	309	c.27G>C	c.(25-27)caG>caC	p.Q9H	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.Q9H|MAK_uc021yll.1_Missense_Mutation_p.Q9H|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	9	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CGTCCCCCAACTGTCTCATGG	0.443000														65			62		0	0	0.003610	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41048515	41048515	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:41048515C>T	uc003jmj.4	-	15	2085	c.1595G>A	c.(1594-1596)gGg>gAg	p.G532E	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G87E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	532							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTTCAAAAGCCCTATTGCACC	0.453000														21			8		0	0	0.004482	0	0
MPDZ	8777	broad.mit.edu	37	9	13193234	13193234	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:13193234G>A	uc010mia.1	-	12	1792	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	MPDZ_uc010mhz.3_Nonsense_Mutation_p.R579*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.R579*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.R579*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.R579*	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	579	PDZ 4.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGAACAGATCGGATAAAATGA	0.468000														15			24		0	0	0.004656	0	0
PTRF	284119	broad.mit.edu	37	17	40556804	40556804	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:40556804G>A	uc002hzo.3	-	1	1297	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	PTRF_uc010wgi.2_Silent_p.A340A	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	358					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCAGGTCGCCGGCCTCCCCGC	0.711000														16			7		0	0	0.004482	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089680	102089680	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:102089680C>T	uc001kqx.1	-	0	564	c.181G>A	c.(181-183)Gca>Aca	p.A61T	PKD2L1_uc009xwm.1_Silent_p.R6R	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	61					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTCCTGTATGCCGTCTCCTGG	0.587000														43			49		0	0	0.003610	0	0
KRT6B	3854	broad.mit.edu	37	12	52844254	52844254	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:52844254C>T	uc001sak.3	-	1	739	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	231	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGACCCCGTTCCCCCACGATG	0.567000														136			54		0	0	0.003610	0	0
CCNJ	54619	broad.mit.edu	37	10	97816742	97816742	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:97816742G>A	uc010qoq.2	+	3	924	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.E189K|CCNJ_uc001kln.3_Missense_Mutation_p.E189K	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	189						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TTACTTCCTGGAAGTATCTTT	0.423000														49			23		0	0	0.012319	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834048	125834048	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:125834048C>T	uc001uhe.1	+	1	111	c.103C>T	c.(103-105)Cct>Tct	p.P35S	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	35						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCCTCGCTCCCTGCTTACCT	0.478000														164			66		0	0	0.003610	0	0
UNK	85451	broad.mit.edu	37	17	73780868	73780868	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:73780868C>T	uc002jpm.3	+	1	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F	UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	0							nucleic acid binding|zinc ion binding	p.C45*(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTTCACGTTCTCGTGGCGCG	0.612000														25			8		0	0	0.004482	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228138	112228138	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:112228138G>A	uc021ycm.1	+	0	830	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						CTGCAATTTGGAACCTCACCT	0.473000														67			45		0	0	0.011902	0	0
PROKR2	128674	broad.mit.edu	37	20	5283061	5283061	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:5283061C>T	uc010zqw.2	-	1	788	c.780G>A	c.(778-780)acG>acA	p.T260T	PROKR2_uc010zqx.2_Silent_p.T260T|PROKR2_uc010zqy.2_Silent_p.T260T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAATCTGCTCCGTCTGGAACC	0.607000										HNSCC(71;0.22)				34			22		0	0	0.002299	0	0
CCT6P3	643180	broad.mit.edu	37	7	64525411	64525412	+	RNA	DNP	AG	TA	TA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:64525411_64525412AG>TA	uc003ttt.1	+	1		c.247_248AG>TA			CCT6P3_uc010kzt.1_Non-coding_Transcript					Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA.																		TTAATAGCAAAGGTAGCAACAG	0.381000														174			6		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9083630	9083630	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9083630G>A	uc002mkp.3	-	0	8389	c.8185C>T	c.(8185-8187)Ccc>Tcc	p.P2729S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2729	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTTAGAGGGGGAAGTGGAA	0.468000														61			34		0	0	0.005524	0	0
KCNH2	3757	broad.mit.edu	37	7	150648916	150648917	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150648916_150648917CC>TT	uc003wic.3	-	6	1965_1966	c.1564_1565GG>AA	c.(1564-1566)ggg>AAg	p.G522K	KCNH2_uc003wib.3_Missense_Mutation_p.G182K|KCNH2_uc011kux.2_Missense_Mutation_p.G426K|KCNH2_uc003wid.3_Missense_Mutation_p.G182K|KCNH2_uc003wie.3_Missense_Mutation_p.G522K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	522					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.I521I(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTTCAGCAGCCCGATCAGCTGG	0.668000														21			21		0	0	0.004672	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250535	1250535	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:1250535C>T	uc002cks.3	+	6	1331	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	CACNA1H_uc002ckt.3_Silent_p.F361F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	361					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCATCAACTTCGACAACATCG	0.647000														32			17		0	0	0.008871	0	0
SLC30A8	169026	broad.mit.edu	37	8	118165286	118165286	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:118165286G>A	uc003yoh.3	+	2	605	c.375G>A	c.(373-375)tcG>tcA	p.S125S	SLC30A8_uc010mcz.3_Silent_p.S76S|SLC30A8_uc003yog.3_Silent_p.S76S|SLC30A8_uc011lia.2_Silent_p.S76S|SLC30A8_uc022bab.1_Silent_p.S76S	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	125					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.S125*(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GGTTGTCATCGAAGCCTCCCT	0.527000														86			264		0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145323702	145323702	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:145323702C>T	uc021oul.1	+	26	3574	c.3539C>T	c.(3538-3540)cCc>cTc	p.P1180L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1180										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCACCATGCCCCAGGTAACTG	0.453000														616			39		0	0	0.003610	0	0
GLP2R	9340	broad.mit.edu	37	17	9765377	9765377	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:9765377C>T	uc002gmd.1	+	8	1026	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	342					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTGGTGGATCATCCGAGGAC	0.507000														100			58		0	0	0.003610	0	0
ANK2	287	broad.mit.edu	37	4	114277530	114277530	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:114277530G>A	uc003ibe.4	+	37	7856	c.7756G>A	c.(7756-7758)Gag>Aag	p.E2586K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E2601K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2553					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACACCTGAAGAGGAGATGTT	0.383000														47			26		0	0	0.007291	0	0
OTOP2	92736	broad.mit.edu	37	17	72920757	72920757	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72920757G>A	uc010wrp.2	+	1	122	c.30G>A	c.(28-30)aaG>aaA	p.K10K	USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Silent_p.K10K	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	10						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGGCCCCAAGGAGAGCCCCC	0.687000														12			13		0	0	0.001855	0	0
DSCAM	1826	broad.mit.edu	37	21	41424009	41424009	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:41424009C>T	uc002yyq.1	-	29	5513	c.5061G>A	c.(5059-5061)acG>acA	p.T1687T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1687					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTCAGCATCCGTCAACAGAA	0.537000														49			25		0	0	0.002780	0	0
OR4D2	124538	broad.mit.edu	37	17	56247763	56247763	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56247763G>A	uc010wnp.2	+	0	747	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGTTTCCATGATCTTCGTTC	0.532000														133			41		0	0	0.013114	0	0
AK022914	0	broad.mit.edu	37	14	19856895	19856895	+	RNA	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:19856895A>G	uc001vvq.1	-	4		c.635T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		AATTAGCCCAACTTCTGTGCT	0.368000														44			6		0	0	0.010729	0	0
ASIC2	40	broad.mit.edu	37	17	31438945	31438945	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:31438945C>T	uc002hht.3	-	1	1722	c.849G>A	c.(847-849)tgG>tgA	p.W283*	ASIC2_uc002hhu.3_Nonsense_Mutation_p.W232*	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	232					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGTCTCTCCCCAGATGGGCA	0.617000														80			26		0	0	0.006320	0	0
LRIT2	340745	broad.mit.edu	37	10	85982030	85982030	+	Silent	SNP	G	A	A	rs140213191		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:85982030G>A	uc010qmc.2	-	3	1337	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	LRIT2_uc001kcy.3_Silent_p.L433L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	433	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCTCTAGGCTGAGGCAGGCCT	0.557000														79			44		0	0	0.003610	0	0
TRIM26	7726	broad.mit.edu	37	6	30166464	30166464	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:30166464C>T	uc003npr.3	-	2	626	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TRIM26_uc003nps.3_Silent_p.E139E|TRIM26_uc003npt.3_Silent_p.E139E|TRIM26_uc010jry.3_5'UTR|TRIM26_uc003npu.1_Silent_p.E139E	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	139							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GGGCGGCCTTCTCCATGAGGA	0.642000														30			7		0	0	0.004482	0	0
C19orf18	147685	broad.mit.edu	37	19	58470085	58470085	+	Splice_Site	SNP	A	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:58470085A>C	uc002qqv.3	-	6	635	c.533_splice	c.e6-1	p.V178_splice		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	178						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TGATATAATAACTAAAATGTA	0.308000														5			12		0	0	0.010729	0	0
CMYA5	202333	broad.mit.edu	37	5	79048514	79048514	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:79048514G>A	uc003kgc.3	+	5	11079	c.11007G>A	c.(11005-11007)atG>atA	p.M3669I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3669	B-box coiled-coil; BBC.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTCTGCAATGGAGAGCACTG	0.378000														28			25		0	0	0.005443	0	0
KRT38	8687	broad.mit.edu	37	17	39593779	39593779	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39593779G>A	uc002hwq.1	-	6	1679	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	419	Tail.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGTGGAGCACGGATTGCAGGG	0.632000														12			12		0	0	0.001368	0	0
GAPT	202309	broad.mit.edu	37	5	57790406	57790406	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:57790406G>A	uc003jro.1	+	2	437	c.43G>A	c.(43-45)Gga>Aga	p.G15R	GAPT_uc021xyy.1_Missense_Mutation_p.G15R	NM_152687	NP_689900	Q8N292	GAPT_HUMAN	Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA.	15					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CATTTCTGTAGGAATTTCGCT	0.403000														36			10		0	0	0.010729	0	0
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:36978766C>T	uc010jwp.1	+	2	489	c.318C>T	c.(316-318)atC>atT	p.I106I	FGD2_uc011dtu.1_Silent_p.I106I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	106	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612000														66			17		0	0	0.008871	0	0
H2AFY	9555	broad.mit.edu	37	5	134724714	134724714	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:134724714G>A	uc003lam.1	-	1	280	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	H2AFY_uc003lao.1_Missense_Mutation_p.P24S|H2AFY_uc003lan.1_Missense_Mutation_p.P24S|H2AFY_uc011cxz.1_Missense_Mutation_p.P24S|H2AFY_uc003las.1_Missense_Mutation_p.P24S|H2AFY_uc003lat.1_Missense_Mutation_p.P24S	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	24	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCCCCACGGGAAAGATGACT	0.612000														42			16		0	0	0.004990	0	0
ODZ3	55714	broad.mit.edu	37	4	183713613	183713613	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:183713613G>A	uc003ivd.1	+	24	5863	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1930					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGACTACAACGAGGAAGGGCT	0.488000														49			34		0	0	0.003755	0	0
ITIH5	80760	broad.mit.edu	37	10	7621865	7621865	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:7621865C>T	uc021pmv.1	-	8	1377	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ITIH5_uc021pmu.1_Missense_Mutation_p.R210Q|ITIH5_uc001ijr.2_Missense_Mutation_p.R424Q	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	424	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCGGCCTCTCGGGTGTTGTT	0.607000														40			17		0	0	0.006122	0	0
TMEM54	113452	broad.mit.edu	37	1	33366825	33366825	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:33366825G>A	uc001bwi.1	-	1	130	c.16_splice	c.e1+1	p.G6_splice	TMEM54_uc001bwj.1_Splice_Site_p.G6_splice|TMEM54_uc001bwk.1_Splice_Site_p.G6_splice	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	6						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCGCTCACCGAGGCGCAGAC	0.776000														8			4		0	0	0.001168	0	0
TEX34	124783	broad.mit.edu	37	17	43332872	43332872	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:43332872G>A	uc002iis.1	-	3	773	c.677C>T	c.(676-678)cCc>cTc	p.P226L	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.P205L	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	226								p.P226L(1)									GGACAGGAGGGGGCTTGGTGC	0.632000														19			22		0	0	0.012319	0	0
FCRL6	343413	broad.mit.edu	37	1	159778028	159778028	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:159778028G>A	uc001fud.4	+	2	155	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	FCRL6_uc010pix.1_Missense_Mutation_p.R33Q|FCRL6_uc001fuc.2_Missense_Mutation_p.R45Q|FCRL6_uc009wsz.1_Missense_Mutation_p.R38Q|FCRL6_uc009wta.3_Missense_Mutation_p.R38Q	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	38	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CTGACTCTGCGATGTCAGGGA	0.512000														58			12		0	0	0.010729	0	0
CCR2	729230	broad.mit.edu	37	3	46399759	46399759	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:46399759C>T	uc003cpn.4	+	1	1226	c.741C>T	c.(739-741)acC>acT	p.T247T	CCR2_uc003cpm.4_Silent_p.T247T|CCR2_uc021wxa.1_Silent_p.T247T	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	247					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCATCTTCACCATCATGATTG	0.468000														102			71		0	0	0.003610	0	0
C17orf90	339229	broad.mit.edu	37	17	79633556	79633556	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:79633556G>A	uc002kba.3	-	0	63	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	C17orf90_uc002kbb.3_Missense_Mutation_p.R18C|CCDC137_uc002kbc.4_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	Homo sapiens chromosome 17 open reading frame 90 (C17orf90), mRNA.	18				R -> L (in Ref. 1; AC139530).						lung(2)|prostate(1)	3	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCCGAGCCACGGACCGCGGCG	0.766000														9			3		0	0	0.009096	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619830	15619830	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:15619830C>T	uc010cot.3	+	5	1188	c.792C>T	c.(790-792)gtC>gtT	p.V264V	ZNF286A_uc002goz.4_Silent_p.V152V|ZNF286A_uc010vwa.2_Silent_p.V264V|ZNF286A_uc002gpa.3_Silent_p.V264V	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		ACCAGAGAGTCCATACTGGAG	0.373000														32			17		0	0	0.008871	0	0
NEDD1	121441	broad.mit.edu	37	12	97311490	97311490	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:97311490C>T	uc001tew.3	+	3	490	c.344C>T	c.(343-345)tCa>tTa	p.S115L	NEDD1_uc001teu.4_Missense_Mutation_p.S108L|NEDD1_uc001tev.4_Missense_Mutation_p.S108L|NEDD1_uc010svc.2_Missense_Mutation_p.S19L|NEDD1_uc001tex.3_Missense_Mutation_p.S19L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	108					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GATTTAAAATCAAAAAGAGTT	0.279000														113			52		0	0	0.003610	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184786	69184787	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:69184786_69184787CC>TT	uc002ews.4	+	7	1077_1078	c.981_982CC>TT	c.(979-984)ctccga>ctTTga	p.R328*	CIRH1A_uc002ewr.2_Nonsense_Mutation_p.R328*|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.R245*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.R245*|CIRH1A_uc010cfj.1_Nonsense_Mutation_p.R147*	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	328						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATGCCGCTCTCCGAAAAATCAC	0.530000														46			22		0	0	0.004672	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139523	3139523	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3139523C>T	uc002ctv.1	-	4	1835	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	ZSCAN10_uc002cty.1_Missense_Mutation_p.E244K|ZSCAN10_uc002ctw.1_Missense_Mutation_p.E501K|ZSCAN10_uc002ctx.1_Missense_Mutation_p.E511K	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	583					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TCACCGCACTCGCTGCAGCGG	0.706000														10			5		0	0	0.001168	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891755	2891755	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:2891755G>A	uc002kln.3	+	3	1789	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	544					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.K543K(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCACCTGAAGGACAAAGTTCA	0.542000														53			29		0	0	0.008361	0	0
GALNT5	11227	broad.mit.edu	37	2	158115237	158115237	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:158115237G>A	uc002tzg.3	+	0	898	c.643G>A	c.(643-645)Gac>Aac	p.D215N	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	215					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGCTGAAAGGGACTTGAATGT	0.493000														32			18		0	0	0.008871	0	0
C1orf31	388753	broad.mit.edu	37	1	234509472	234509472	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:234509472C>T	uc001hwc.3	+	0	44	c.8C>T	c.(7-9)cCg>cTg	p.P3L	C1orf31_uc001hwb.3_Intron	NM_001012985	NP_001193570	Q5JTJ3	CA031_HUMAN	Homo sapiens chromosome 1 open reading frame 31 (C1orf31), transcript variant 1, mRNA.	3						mitochondrion	cytochrome-c oxidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Ovarian(103;0.0339)	all_cancers(173;0.241)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTATGGGCCCGGGAGGTCCC	0.647000														137			52		0	0	0.003610	0	0
ASTN1	460	broad.mit.edu	37	1	177030324	177030324	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:177030324G>A	uc001glc.3	-	1	573	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	ASTN1_uc001glb.1_Missense_Mutation_p.H121Y|ASTN1_uc001gld.1_Missense_Mutation_p.H121Y|ASTN1_uc009wwx.1_Missense_Mutation_p.H121Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	121					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATGAATGTGAAAAAGCAAA	0.522000														256			78		0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353924	77353924	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:77353924G>A	uc002ffc.4	-	15	2773	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S373F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S481F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	785	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S785S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTAACTGGAGGAAACCTGCAG	0.537000														35			18		0	0	0.006122	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519938	69519938	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:69519938C>T	uc021xow.1	-	4	1288	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	377					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCCATTGGTTCCACCATGAGT	0.388000														101			72		0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47805772	47805772	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:47805772G>A	uc002zji.4	+	16	3445	c.3338G>A	c.(3337-3339)aGt>aAt	p.S1113N	PCNT_uc002zjj.3_Missense_Mutation_p.S995N	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1113					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTATCCTTAAGTCACGAGATA	0.488000														81			59		0	0	0.003610	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761084	95761084	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:95761084C>T	uc003uog.4	-	14	1756	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	SLC25A13_uc003uof.4_Missense_Mutation_p.G521E|SLC25A13_uc011kik.2_Missense_Mutation_p.G413E	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	521					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAGCAGGCTTCCTGGGCTAAC	0.542000														37			37		0	0	0.003755	0	0
TNN	63923	broad.mit.edu	37	1	175097859	175097859	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:175097859G>A	uc001gkl.1	+	14	3420	c.3307G>A	c.(3307-3309)Gaa>Aaa	p.E1103K		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1103	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTGACATGGAAACGGACGG	0.597000														81			12		0	0	0.001368	0	0
DAO	1610	broad.mit.edu	37	12	109294246	109294246	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:109294246G>A	uc001tnr.4	+	10	1650	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	DAO_uc001tnq.4_Missense_Mutation_p.A261T|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	327					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCTGGAGGCAGCCAAGCTCTT	0.567000														51			32		0	0	0.012213	0	0
ZNF17	7565	broad.mit.edu	37	19	57931051	57931051	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57931051T>C	uc002qop.1	+	3	463	c.197T>C	c.(196-198)gTt>gCt	p.V66A	ZNF17_uc021vck.1_Missense_Mutation_p.V57A|ZNF17_uc002qoo.1_Missense_Mutation_p.V64A	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AAGCAATGTGTTTCTGTAGGA	0.488000														33			18		0	0	0.008871	0	0
MYH4	4622	broad.mit.edu	37	17	10362677	10362677	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:10362677T>C	uc002gmn.3	-	14	1589	c.1478A>G	c.(1477-1479)aAc>aGc	p.N493S	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	493	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATGTGGTGGTTGAAAAACTG	0.473000														77			46		0	0	0.013114	0	0
ATP11B	23200	broad.mit.edu	37	3	182554169	182554169	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:182554169C>T	uc003flb.3	+	5	720	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ATP11B_uc003fla.3_Missense_Mutation_p.P155S	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	155					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGAAATTTTTCCTGCAGACTT	0.393000														68			34		0	0	0.003271	0	0
FBXW10	10517	broad.mit.edu	37	17	18659368	18659368	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:18659368A>G	uc002gul.3	+	4	1452	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	FBXW10_uc002guj.3_Missense_Mutation_p.N378S|FBXW10_uc002guk.3_Missense_Mutation_p.N378S|FBXW10_uc010cqh.2_Missense_Mutation_p.N378S	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	378										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AATGAGTACAACCTGTGGACT	0.478000														22			17		0	0	0.012319	0	0
ITGA4	3676	broad.mit.edu	37	2	182347248	182347248	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:182347248C>T	uc002unu.3	+	8	1674	c.911C>T	c.(910-912)tCg>tTg	p.S304L	ITGA4_uc010zfl.1_Missense_Mutation_p.S304L	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	304					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAGCTTGGATCGTACTTTGGA	0.483000														156			67		0	0	0.003610	0	0
CELF5	60680	broad.mit.edu	37	19	3281301	3281301	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:3281301C>T	uc002lxm.3	+	5	745	c.708C>T	c.(706-708)tcC>tcT	p.S236S	CELF5_uc010dtj.2_Silent_p.S236S|CELF5_uc002lxl.2_Silent_p.S236S|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	236					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGACGCCGTCCCTCACATTGC	0.647000														61			38		0	0	0.010771	0	0
FRY	10129	broad.mit.edu	37	13	32760500	32760501	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:32760500_32760501GG>AA	uc001utx.3	+	26	3919_3920	c.3423_3424GG>AA	c.(3421-3426)ctggat>ctAAat	p.D1142N	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACTCCTCTGGATCGTTACAG	0.436000														21			28		0	0	0.004672	0	0
HAP1	9001	broad.mit.edu	37	17	39890869	39890869	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:39890869C>T	uc002hxm.1	-	0	30	c.18G>A	c.(16-18)ttG>ttA	p.L6L	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.L6L|HAP1_uc002hxo.1_Silent_p.L6L|HAP1_uc002hxp.1_Silent_p.L6L	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	6					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCACCGGCCCAACCTCTTCG	0.736000														9			4		0	0	0.000602	0	0
PROX2	283571	broad.mit.edu	37	14	75329969	75329969	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:75329969C>T	uc021rwo.1	-	0	569	c.569G>A	c.(568-570)gGt>gAt	p.G190D	PROX2_uc001xqp.2_Missense_Mutation_p.G190D|PROX2_uc001xqq.2_Missense_Mutation_p.G190D	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	190					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTGGTGGTCACCGTCCACAAC	0.602000														29			11		0	0	0.010729	0	0
CCL2	6347	broad.mit.edu	37	17	32583826	32583826	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:32583826A>G	uc002hhy.3	+	2	353	c.280A>G	c.(280-282)Acc>Gcc	p.T94A		NM_002982	NP_002973	P13500	CCL2_HUMAN	Homo sapiens chemokine (C-C motif) ligand 2 (CCL2), mRNA.	94					G-protein signaling, coupled to cyclic nucleotide second messenger|JAK-STAT cascade|angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|helper T cell extravasation|humoral immune response|inflammatory response|macrophage chemotaxis|monocyte chemotaxis|positive regulation of T cell activation|positive regulation of nitric-oxide synthase biosynthetic process|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GGACAAGCAAACCCAAACTCC	0.493000														30			7		0	0	0.004482	0	0
UQCRC1	7384	broad.mit.edu	37	3	48642089	48642089	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:48642089G>A	uc003cub.1	-	3	467	c.422C>T	c.(421-423)cCg>cTg	p.P141L		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	141					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GTTACCTTTCGGCAGATCCTT	0.577000														20			19		0	0	0.010504	0	0
CUX2	23316	broad.mit.edu	37	12	111786114	111786114	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:111786114G>A	uc001tsa.2	+	21	4600	c.4446G>A	c.(4444-4446)ctG>ctA	p.L1482L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A1481D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGGCCCTGGAGTGGGAGT	0.567000														51			40		0	0	0.006999	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799020	16799020	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:16799020C>T	uc002nes.3	+	5	829	c.738C>T	c.(736-738)ccC>ccT	p.P246P		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	246						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACATCTGCCCCGTGCTGTTTG	0.637000														174			99		0	0	0.003610	0	0
CFHR1	3078	broad.mit.edu	37	1	196762504	196762504	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196762504G>A	uc001gtl.3	+	5	941	c.854G>A	c.(853-855)aGa>aAa	p.R285K	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.R224K|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	283	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TTAAAAGGAAGAAGTGACAGA	0.264000														78			19		0	0	0.010504	0	0
C1orf168	199920	broad.mit.edu	37	1	57221585	57221585	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57221585G>A	uc001cym.4	-	6	1520	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	372										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGGATAGGGAAAATTCTTC	0.393000														21			14		0	0	0.001855	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212600	26212600	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:26212600A>T	uc022buc.1	+	0	637	c.637A>T	c.(637-639)Aaa>Taa	p.K213*	MAGEB6_uc004dbr.3_Nonsense_Mutation_p.K213*	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	213	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTTTGAGAAGAAAGAGTCCAT	0.473000														8			53		0	0	0.003610	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329616	23329616	+	RNA	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:23329616G>A	uc002nrb.1	+	3		c.1969G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CTACAAGTGTGAAGAATGTGA	0.348000														14			7		0	0	0.001984	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603041	138603041	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138603041G>A	uc011kql.2	-	1	1380	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	KIAA1549_uc011kqj.2_Missense_Mutation_p.S444L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	444						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACCATCCCCTGATCCCACGTC	0.537000			O	BRAF	pilocytic astrocytoma									102			53		0	0	0.003610	0	0
MYH6	4624	broad.mit.edu	37	14	23863359	23863359	+	Missense_Mutation	SNP	G	A	A	rs147015593		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:23863359G>A	uc001wjv.3	-	20	2674	c.2603C>T	c.(2602-2604)tCc>tTc	p.S868F		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	868					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S868F(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCGAGCCTCGGACTTCTCCAG	0.572000														38			40		0	0	0.009718	0	0
TCTN2	79867	broad.mit.edu	37	12	124171515	124171515	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:124171515C>T	uc001ufp.3	+	5	825	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TCTN2_uc009zya.3_Missense_Mutation_p.P232S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	233					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGATTGGTTTCCCTTTCTGTG	0.567000														323			106		0	0	0.003610	0	0
SEMA3A	10371	broad.mit.edu	37	7	83640346	83640346	+	Silent	SNP	C	T	T	rs139214465		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:83640346C>T	uc003uhz.3	-	8	1302	c.987G>A	c.(985-987)acG>acA	p.T329T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	329	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACCTGGAAGTCGTAAACACTC	0.294000														46			24		0	0	0.003330	0	0
KRBA1	84626	broad.mit.edu	37	7	149428761	149428761	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:149428761G>A	uc003wfz.3	+	17	2543	c.2144_splice	c.e17-1	p.G715_splice	KRBA1_uc010lpj.3_Splice_Site|KRBA1_uc003wga.3_Splice_Site|KRBA1_uc003wgb.3_Splice_Site_p.G323_splice	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	716	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTTTCTATAGGTACAGCTCA	0.502000														11			7		0	0	0.001984	0	0
METAP1D	254042	broad.mit.edu	37	2	172926242	172926242	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:172926242C>T	uc002uhk.3	+	1	130	c.57C>T	c.(55-57)ttC>ttT	p.F19F	METAP1D_uc010zdw.2_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	19					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ATAGAATTTTCTCTTCACCAC	0.343000														74			52		0	0	0.003610	0	0
ZNF205	7755	broad.mit.edu	37	16	3165537	3165537	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3165537C>T	uc002cub.3	+	2	374	c.239C>T	c.(238-240)tCt>tTt	p.S80F	MGC3771_uc010bte.2_Non-coding_Transcript|MGC3771_uc002ctz.3_Non-coding_Transcript|ZNF205_uc002cua.3_Missense_Mutation_p.S80F	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G79D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGTCACGGCTCTAAGGAGAAA	0.637000														12			14		0	0	0.002450	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756490	54756490	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:54756490C>T	uc010yot.1	+	0	132	c.8C>T	c.(7-9)cCg>cTg	p.P3L	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		AAGATGGCACCGAAAGTGAAG	0.458000														44			21		0	0	0.008871	0	0
CAPNS1	826	broad.mit.edu	37	19	36636934	36636934	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:36636934C>T	uc002odi.1	+	7	739	c.582C>T	c.(580-582)ctC>ctT	p.L194L	CAPNS1_uc002odk.3_Silent_p.L194L|CAPNS1_uc002odj.3_Silent_p.L194L|CAPNS1_uc002odl.3_Silent_p.L194L	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	194	EF-hand 3.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTAGTGAACTCCCAGGTGCCT	0.557000														149			76		0	0	0.003610	0	0
MPP7	143098	broad.mit.edu	37	10	28413985	28413985	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:28413985C>T	uc001iua.1	-	8	887	c.483G>A	c.(481-483)gcG>gcA	p.A161A	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.A161A|MPP7_uc009xla.2_Silent_p.A161A|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	161	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CCACAATGATCGCCCCGGTCT	0.423000														52			33		0	0	0.006230	0	0
MSLNL	401827	broad.mit.edu	37	16	825618	825618	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:825618C>T	uc002cjz.1	-	4	1143	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	105					cell adhesion	integral to membrane				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						GGCCCCGTTTCCCACATGTCG	0.721000														19			7		0	0	0.003080	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462131	72462131	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:72462131G>A	uc001jrg.3	+	2	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K	ADAMTS14_uc001jrh.3_Missense_Mutation_p.E196K	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	196					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGGCCAGCAGGAGAAGGAGGC	0.632000														39			31		0	0	0.012213	0	0
AKAP9	10142	broad.mit.edu	37	7	91715658	91715658	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:91715658G>A	uc003ulg.3	+	36	9366	c.9141G>A	c.(9139-9141)acG>acA	p.T3047T	AKAP9_uc003ulf.3_Silent_p.T3039T|AKAP9_uc003uli.3_Silent_p.T2670T|AKAP9_uc003ulj.3_Silent_p.T817T|AKAP9_uc003ulk.3_Silent_p.T322T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3051					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTTCGGACGGAGCTGACAG	0.408000			T	BRAF	papillary thyroid									257			153		0	0	0.003610	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855684	62855684	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:62855684A>C	uc002jey.2	-	10	5196	c.4580T>G	c.(4579-4581)cTt>cGt	p.L1527R	LRRC37A3_uc010wqg.1_Missense_Mutation_p.L645R|LRRC37A3_uc002jex.1_Missense_Mutation_p.L504R|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L565R|LRRC37A3_uc010dek.1_Missense_Mutation_p.L533R|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1527						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCCACTGAGAAGCTTCATCAG	0.512000														299			106		0	0	0.003610	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181798	47181798	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:47181798G>A	uc001rpi.2	-	4	626	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SLC38A4_uc001rpj.2_Missense_Mutation_p.S76F|SLC38A4_uc009zkl.2_Missense_Mutation_p.S76F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	76					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CATTCCAAAGGAAGTGGTTCC	0.433000														20			16		0	0	0.004007	0	0
CERCAM	51148	broad.mit.edu	37	9	131185509	131185509	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:131185509C>T	uc004buz.4	+	2	791	c.393C>T	c.(391-393)acC>acT	p.T131T	CERCAM_uc004buy.1_Silent_p.T53T|CERCAM_uc010mxz.3_Silent_p.T53T|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	131					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		p.R131C(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AAGCCCTCACCTTTGCCAGGA	0.542000														33			42		0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216371854	216371854	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:216371854C>T	uc001hku.1	-	17	4271	c.3884G>A	c.(3883-3885)cGa>cAa	p.R1295Q	USH2A_uc001hkv.3_Missense_Mutation_p.R1295Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1295	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAAAAACTCGACTTTCCTC	0.373000										HNSCC(13;0.011)				52			36		0	0	0.004289	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117484	117484	+	RNA	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrGL000205.1:117484C>A	uc002kgk.4	+	0		c.862C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTGATCGTGCAGGTGGGCAG	0.572000														44			8		0.000274275	0.000295326	0.004482	1	0
OR7D4	125958	broad.mit.edu	37	19	9325295	9325295	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9325295G>A	uc002mla.2	-	0	253	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGGTGGAGATGAAACAGATGT	0.512000														48			29		0	0	0.007291	0	0
DMPK	1760	broad.mit.edu	37	19	46282618	46282618	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:46282618C>T	uc002pdi.1	-	5	601	c.415_splice	c.e5-1	p.V139_splice	DMPK_uc010xxs.1_Splice_Site_p.V24_splice|DMPK_uc002pdd.1_Splice_Site_p.V123_splice|DMPK_uc002pde.1_Splice_Site_p.V123_splice|DMPK_uc002pdg.1_Splice_Site_p.V113_splice|DMPK_uc002pdf.1_Splice_Site_p.V113_splice|DMPK_uc002pdh.1_Splice_Site_p.V113_splice|DMPK_uc010xxt.1_Splice_Site_p.V113_splice|DMPK_uc010xxu.1_Intron	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	123	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGCACGACACCTGCAGGGCAC	0.662000														67			30		0	0	0.007291	0	0
TMCC3	57458	broad.mit.edu	37	12	94975610	94975610	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:94975610C>T	uc001tdj.2	-	1	901	c.783G>A	c.(781-783)acG>acA	p.T261T	TMCC3_uc001tdi.2_Silent_p.T230T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	261						integral to membrane		p.G260C(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCGAGCCTGACGTGCCACTCG	0.597000														57			40		0	0	0.008740	0	0
DCAF16	54876	broad.mit.edu	37	4	17805290	17805290	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:17805290C>T	uc003gpn.3	-	2	1536	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	DCAF16_uc021xmp.1_Missense_Mutation_p.A159T	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	159						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						ATGGGAGTGGCTCTACTCAAT	0.463000														73			47		0	0	0.003610	0	0
STK11IP	114790	broad.mit.edu	37	2	220467489	220467489	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:220467489A>G	uc002vml.3	+	6	685	c.642A>G	c.(640-642)ggA>ggG	p.G214G	STK11IP_uc010zlk.2_Silent_p.G203G|STK11IP_uc010zll.2_Silent_p.G203G|STK11IP_uc002vmm.1_Silent_p.G203G	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	214					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGTCAGGGATTCCTGATGG	0.527000														21			9		0	0	0.006214	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445949	87445949	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:87445949G>A	uc002fjz.1	-	11	1994	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.S432F	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	656					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ATTAGGACAGGAAGTTTGCCC	0.537000														104			54		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55533886	55533887	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:55533886_55533887CC>TT	uc003xsd.1	+	1	508_509	c.360_361CC>TT	c.(358-363)gcccgt>gcTTgt	p.R121C	RP1_uc011ldy.1_Missense_Mutation_p.R121C	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	121					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGACAAAGCCCGTCGGCGCCC	0.718000														22			33		0	0	0.004672	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104797	26104797	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:26104797G>A	uc001bkm.2	+	8	1789	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	MAN1C1_uc009vry.1_Missense_Mutation_p.E307K	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	487					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E487*(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GACGTGTCACGAGTCATACGC	0.607000														17			11		0	0	0.002450	0	0
TMEM187	8269	broad.mit.edu	37	X	153247741	153247741	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:153247741C>T	uc022cic.1	+	0	228	c.228C>T	c.(226-228)ggC>ggT	p.G76G	TMEM187_uc004fjq.2_Silent_p.G76G|MIR3202-2_uc022cib.1_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	Homo sapiens transmembrane protein 187 (TMEM187), mRNA.	76						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGGGCGGCGCGATGGGGC	0.697000														8			43		0	0	0.007835	0	0
BRD4	23476	broad.mit.edu	37	19	15349758	15349758	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15349758G>A	uc002nar.3	-	18	4038	c.3816C>T	c.(3814-3816)gcC>gcT	p.A1272A		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1272					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGCCCGCCGGGCCTGCTCCA	0.697000			T	C15orf55	lethal midline carcinoma of young people									6			3		0	0	0.000602	0	0
FSCB	84075	broad.mit.edu	37	14	44975203	44975203	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:44975203G>A	uc001wvn.3	-	0	1297	c.988C>T	c.(988-990)Cct>Tct	p.P330S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	330	Pro-rich.					cilium		p.P330S(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTTCAGCAGGAAACTCCACT	0.512000														57			29		0	0	0.006320	0	0
ZIM3	114026	broad.mit.edu	37	19	57646480	57646480	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:57646480G>A	uc002qnz.1	-	4	1611	c.1225C>T	c.(1225-1227)Cat>Tat	p.H409Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTTCTGATGGCTATGAAGG	0.373000														73			56		0	0	0.003610	0	0
THAP9	79725	broad.mit.edu	37	4	83839810	83839810	+	Silent	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:83839810A>T	uc003hnt.2	+	4	2564	c.2445A>T	c.(2443-2445)gtA>gtT	p.V815V	THAP9_uc003hns.1_Silent_p.V671V|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Silent_p.V532V	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	815							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCTTTTTGTAGATGTGAATA	0.313000														39			17		0	0	0.008871	0	0
NKG7	4818	broad.mit.edu	37	19	51875431	51875431	+	Silent	SNP	G	A	A	rs144240268		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:51875431G>A	uc002pwj.3	-	1	459	c.288C>T	c.(286-288)acC>acT	p.T96T	NKG7_uc002pwk.3_Silent_p.T61T	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	96						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAAAGGCTGCGGTGGTTGAGA	0.622000														70			45		0	0	0.013114	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478254	42478254	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:42478254G>A	uc002igw.2	-	7	1410	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	GPATCH8_uc002igv.2_Silent_p.I319I|GPATCH8_uc010wiz.2_Silent_p.I319I	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	397						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGCTGGGGGGATGTAGTGGT	0.433000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			41		0	0	0.009718	0	0
ERLIN1	10613	broad.mit.edu	37	10	101911954	101911954	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:101911954G>A	uc001kqn.4	-	10	1332	c.981C>T	c.(979-981)ctC>ctT	p.L327L	ERLIN1_uc001kqo.4_Silent_p.L327L|ERLIN1_uc010qpm.2_Silent_p.L243L	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	325					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CCTTAGAGGGGAGTGAGCTTT	0.438000														31			23		0	0	0.002299	0	0
FAM190A	401145	broad.mit.edu	37	4	91549260	91549260	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:91549260G>A	uc003hsv.4	+	5	2149	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.A603A	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	603								p.S602C(1)		NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTCCATCTGCGGATTGGCCTC	0.443000														36			29		0	0	0.008361	0	0
FAM213B	127281	broad.mit.edu	37	1	2520471	2520471	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:2520471C>T	uc001ajv.2	+	5	761	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	FAM213B_uc021oew.1_Non-coding_Transcript|FAM213B_uc021oex.1_Silent_p.T67T|FAM213B_uc001ajw.2_Missense_Mutation_p.P210L|FAM213B_uc001aju.2_Missense_Mutation_p.P191S|FAM213B_uc010nzd.2_Missense_Mutation_p.P217S|FAM213B_uc010nze.2_Missense_Mutation_p.P185S|FAM213B_uc010nzf.2_Missense_Mutation_p.P184S|FAM213B_uc001ajx.2_Silent_p.T63T	NM_001195736	NP_001182665	Q8TBF2	PGFS_HUMAN	Homo sapiens family with sequence similarity 213, member B (FAM213B), transcript variant 1, mRNA.	191					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										TGCCAGCGACCCGCCTCAGGT	0.677000														36			18		0	0	0.002299	0	0
TEK	7010	broad.mit.edu	37	9	27172649	27172649	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:27172649C>T	uc011lno.2	+	4	1106	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	TEK_uc010mjc.1_Missense_Mutation_p.H75Y|TEK_uc011lnn.1_Missense_Mutation_p.H222Y|TEK_uc003zqi.4_Missense_Mutation_p.H222Y|TEK_uc011lnp.2_Missense_Mutation_p.H118Y|TEK_uc003zqj.1_Missense_Mutation_p.H199Y	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	222	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGAATGCAACCATCTCTGTAC	0.468000														12			12		0	0	0.001368	0	0
SVOPL	136306	broad.mit.edu	37	7	138305795	138305795	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138305795G>A	uc011kqh.2	-	12	1349	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SVOPL_uc003vue.3_Missense_Mutation_p.S298F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	450						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTGTACCTGGGATATAAATGG	0.572000														38			12		0	0	0.006122	0	0
TSC2	7249	broad.mit.edu	37	16	2114419	2114419	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2114419C>T	uc002con.3	+	14	1696	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.I530I|TSC2_uc002coo.3_Silent_p.I530I|TSC2_uc010uvv.2_Silent_p.I493I|TSC2_uc010uvw.2_Silent_p.I481I|TSC2_uc002cop.3_Silent_p.I330I	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	530					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCTGGACATCATCGAGAAGG	0.627000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					42			24		0	0	0.002780	0	0
LRRC61	65999	broad.mit.edu	37	7	150034461	150034461	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150034461G>T	uc003wgz.4	+	0	511	c.511G>T	c.(511-513)Gag>Tag	p.E171*	LRRC61_uc003wgv.3_Nonsense_Mutation_p.E171*|LRRC61_uc003wgx.3_Nonsense_Mutation_p.E171*|LRRC61_uc003wgw.3_Nonsense_Mutation_p.E171*	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	171	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGTGGTAGTGAGTTCTACCA	0.652000														39			34		4.11147e-13	4.47994e-13	0.003755	1	0
MUC16	94025	broad.mit.edu	37	19	9066038	9066038	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:9066038C>T	uc002mkp.3	-	2	21612	c.21408G>A	c.(21406-21408)acG>acA	p.T7136T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7138	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGTGGTCGTTACCGGGC	0.517000														78			32		0	0	0.003271	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754080	140754080	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140754080G>A	uc003ljy.2	+	0	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.E144K	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	144	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATTCTCGAAAACGCAGC	0.423000														31			21		0	0	0.010504	0	0
FMNL2	114793	broad.mit.edu	37	2	153475648	153475648	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:153475648C>T	uc002tye.3	+	13	1970	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	535	Pro-rich.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACCACTGCCTCCCTCATCAGA	0.527000														15			9		0	0	0.008291	0	0
ITGAE	3682	broad.mit.edu	37	17	3646903	3646903	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:3646903C>T	uc002fwo.4	-	18	2427	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	776					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCAGTCCTCCTCACAGAGCT	0.512000														95			52		0	0	0.003610	0	0
BTNL8	79908	broad.mit.edu	37	5	180335759	180335759	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:180335759T>A	uc003mmp.3	+	1	457	c.223T>A	c.(223-225)Ttt>Att	p.F75I	BTNL8_uc003mmq.3_Missense_Mutation_p.F75I|BTNL8_uc010jll.3_Missense_Mutation_p.F75I|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	75	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCAGCCATTTATGCAGAT	0.532000														133			81		0	0	0.003610	0	0
CLIP4	79745	broad.mit.edu	37	2	29366576	29366576	+	Splice_Site	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:29366576A>T	uc002rmv.3	+	7	888	c.649_splice	c.e7-1	p.N217_splice	CLIP4_uc002rmu.3_Splice_Site_p.N217_splice|CLIP4_uc010ezm.1_Splice_Site_p.N217_splice|CLIP4_uc002rmw.3_Splice_Site|CLIP4_uc010ymn.1_Splice_Site_p.N199_splice	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	217										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TATTTGTAGAATGACAAAGGA	0.388000														65			23		0	0	0.003954	0	0
TBX19	9095	broad.mit.edu	37	1	168269660	168269660	+	Splice_Site	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:168269660A>T	uc001gfl.3	+	5	717	c.666_splice	c.e5-1	p.R222_splice	TBX19_uc001gfj.4_Splice_Site_p.R153_splice|TBX19_uc001gfm.3_Splice_Site	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	222					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ACTCTTTCAGAAATCACCTAA	0.448000														44			16		0	0	0.007413	0	0
MPP7	143098	broad.mit.edu	37	10	28378660	28378660	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:28378660C>T	uc001iua.1	-	13	1467	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E355K|MPP7_uc009xla.2_Missense_Mutation_p.E355K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	355					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCACTTCTTCGTATGTGGGT	0.378000														85			53		0	0	0.003610	0	0
BPIFB4	149954	broad.mit.edu	37	20	31678582	31678582	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:31678582G>A	uc010zue.2	+	7	1135	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	374						cytoplasm|extracellular region	lipid binding										TGTGACCGGGGAATTCCTGGA	0.607000														26			15		0	0	0.004007	0	0
NBPF1	55672	broad.mit.edu	37	1	16902895	16902895	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:16902895G>A	uc009vos.1	-	18	2874	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.S120S|NBPF1_uc010oce.1_Silent_p.S391S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	662						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAATGAGCAGGAGGCATCTC	0.552000														360			55		0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65390556	65390556	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:65390556G>A	uc011moz.2	+	1	443	c.306G>A	c.(304-306)acG>acA	p.T102T	HEPH_uc004dwn.3_Silent_p.T51T|HEPH_uc004dwo.3_Intron|HEPH_uc010nkr.3_Silent_p.T51T|HEPH_uc011mpa.2_Silent_p.T51T	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	48	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGTCATCACGAACCAGCCTC	0.512000														4			19		0	0	0.008871	0	0
COL19A1	1310	broad.mit.edu	37	6	70894800	70894800	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:70894800G>A	uc003pfc.1	+	45	2966	c.2849G>A	c.(2848-2850)gGa>gAa	p.G950E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	950	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G950R(1)|p.G950*(1)|p.G950G(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCCCCAAAGGAGAACGTGTA	0.403000														7			10		0	0	0.010729	0	0
OXSR1	9943	broad.mit.edu	37	3	38278449	38278449	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38278449C>T	uc003chy.3	+	10	1413	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	OXSR1_uc010hhb.3_Silent_p.L291L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	357					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTCACAACTCAGGGTAAATT	0.378000														47			24		0	0	0.003330	0	0
LMF1	64788	broad.mit.edu	37	16	929698	929698	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:929698G>A	uc021tae.1	-	5	773	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	LMF1_uc010uuu.2_Missense_Mutation_p.H40Y|LMF1_uc021tad.1_Missense_Mutation_p.H88Y|LMF1_uc010bri.2_Missense_Mutation_p.H20Y|LMF1_uc002ckk.2_Missense_Mutation_p.H40Y	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	257						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CAGGGTGAGTGGTGCAGGTAG	0.652000														6			5		0	0	0.001168	0	0
ELAC2	60528	broad.mit.edu	37	17	12898332	12898332	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:12898332G>A	uc002gnz.4	-	19	1973	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	ELAC2_uc002gnu.4_Missense_Mutation_p.P16L|ELAC2_uc002gnv.4_Missense_Mutation_p.P247L|ELAC2_uc002gnx.4_Missense_Mutation_p.P379L|ELAC2_uc010vvo.2_Missense_Mutation_p.P417L|ELAC2_uc010vvp.2_Missense_Mutation_p.P600L|ELAC2_uc010vvq.2_Missense_Mutation_p.P618L|ELAC2_uc010vvr.2_Missense_Mutation_p.P579L	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	619					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TTCCACTGCAGGACTGGAGAT	0.478000														149			88		0	0	0.003610	0	0
CXADR	1525	broad.mit.edu	37	21	18937938	18937938	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:18937938C>T	uc002yki.3	+	6	1250	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	CXADR_uc002ykh.2_3'UTR|CXADR_uc010gld.2_3'UTR|CXADR_uc010gle.2_3'UTR|CXADR_uc021whp.1_Silent_p.A301A|CXADR_uc002ykj.2_Intron	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	342					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AGGTAGCTGCCCCTAATCTAA	0.478000														47			27		0	0	0.009535	0	0
ARID1A	8289	broad.mit.edu	37	1	27100165	27100165	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:27100165C>T	uc001bmv.1	+	15	4334	c.3961C>T	c.(3961-3963)Cct>Tct	p.P1321S	ARID1A_uc001bmt.1_Missense_Mutation_p.P1320S|ARID1A_uc001bmu.1_Missense_Mutation_p.P1321S|ARID1A_uc001bmw.1_Missense_Mutation_p.P938S|ARID1A_uc001bmx.1_Missense_Mutation_p.P167S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1321					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGTATTCTCCTAGCCGCTA	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									51			30		0	0	0.010818	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484834	97484834	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:97484834C>T	uc001vmw.3	+	1	822	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	266						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CTTGGAAAACCTCTCTTCATA	0.507000														14			8		0	0	0.004482	0	0
SUGP2	10147	broad.mit.edu	37	19	19121000	19121000	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:19121000G>A	uc002nkz.1	-	4	2064	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SUGP2_uc002nkx.2_Missense_Mutation_p.R668C|SUGP2_uc002nla.1_Missense_Mutation_p.R668C|SUGP2_uc002nlb.2_Missense_Mutation_p.R668C|SUGP2_uc010xqk.1_Missense_Mutation_p.R437C	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	668					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTGAGGTTGCGGACAGCCCGG	0.652000														76			46		0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149502521	149502521	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:149502521G>A	uc010lpk.3	+	56	8325	c.8325G>A	c.(8323-8325)tgG>tgA	p.W2775*		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2778	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACGCCCTGGACTTCCTGGT	0.662000														42			33		0	0	0.007835	0	0
GRIN3B	116444	broad.mit.edu	37	19	1008150	1008150	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:1008150G>A	uc002lqo.1	+	5	2326	c.2326G>A	c.(2326-2328)Gga>Aga	p.G776R	FLJ00277_uc002lqp.1_Intron	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	776					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTATGGGATCGGACTGCCCCA	0.657000														6			5		0	0	0.000602	0	0
ATP2B1	490	broad.mit.edu	37	12	89998001	89998001	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:89998001G>A	uc001tbh.3	-	14	2746	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	ATP2B1_uc001tbg.3_Silent_p.F855F|ATP2B1_uc001tbf.3_Silent_p.F525F	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	855					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGAACTGAAGGAATTTTGAGA	0.383000														26			13		0	0	0.001368	0	0
LIMA1	51474	broad.mit.edu	37	12	50571449	50571449	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:50571449C>T	uc001rwj.4	-	10	1852	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	LIMA1_uc001rwg.4_Missense_Mutation_p.D258N|LIMA1_uc001rwh.4_Missense_Mutation_p.D399N|LIMA1_uc001rwi.4_Missense_Mutation_p.D401N|LIMA1_uc001rwk.4_Missense_Mutation_p.D561N|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	560					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTGATTTCGTCTTCAGGAGGC	0.507000														83			44		0	0	0.013114	0	0
MARCO	8685	broad.mit.edu	37	2	119752064	119752064	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:119752064G>A	uc002tln.1	+	16	1663	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	MARCO_uc010yyf.1_Missense_Mutation_p.E433K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	511	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTGCAGCCACGAGGAGGACGC	0.597000														42			28		0	0	0.012213	0	0
CSMD1	64478	broad.mit.edu	37	8	2820050	2820050	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:2820050C>T	uc022aqr.1	-	60	9956	c.9566G>A	c.(9565-9567)gGa>gAa	p.G3189E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2519E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1081E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3190	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGGAGGATCCCACGAGTAT	0.512000														17			29		0	0	0.012213	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736599	26736599	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:26736599G>A	uc003acb.3	+	10	2408	c.2212_splice	c.e10+1	p.E738_splice	SEZ6L_uc003acd.3_Splice_Site_p.E738_splice|SEZ6L_uc011akd.2_Splice_Site_p.E738_splice|SEZ6L_uc003ace.3_Splice_Site_p.E738_splice|SEZ6L_uc011akc.2_Splice_Site_p.E738_splice|SEZ6L_uc003acc.3_Splice_Site_p.E738_splice|SEZ6L_uc003acf.1_Splice_Site_p.E511_splice|SEZ6L_uc010gvc.1_Splice_Site_p.E511_splice	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	738	CUB 3.					endoplasmic reticulum membrane|integral to membrane		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AACTACATAGGTAGGTGTCTC	0.423000														32			21		0	0	0.008871	0	0
ZNF711	7552	broad.mit.edu	37	X	84525729	84525729	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:84525729C>T	uc004eeq.3	+	9	2205	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	ZNF711_uc004eep.3_Missense_Mutation_p.S394F|ZNF711_uc004eeo.3_Missense_Mutation_p.S394F|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	394					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.F439F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGTTTAAATCCAGGGGATTC	0.353000														2			11		0	0	0.001855	0	0
PEG10	23089	broad.mit.edu	37	7	94293046	94293046	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:94293046G>A	uc003uno.3	+	1	657	c.178G>A	c.(178-180)Gag>Aag	p.E60K	PEG10_uc011kie.2_Missense_Mutation_p.E136K|PEG10_uc022ahn.1_Missense_Mutation_p.E60K	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	60					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGATGACATCGAGCTCCGCGG	0.582000														15			13		0	0	0.001368	0	0
TUBG2	27175	broad.mit.edu	37	17	40811916	40811916	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:40811916G>A	uc010wgr.2	+	1	370	c.114G>A	c.(112-114)gaG>gaA	p.E38E	TUBG2_uc002iap.3_5'UTR	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	38					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCATCGTGGAGGAATTCGCCA	0.667000														49			32		0	0	0.006999	0	0
AGAP3	116988	broad.mit.edu	37	7	150814262	150814262	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150814262C>T	uc003wjg.1	+	2	474	c.471C>T	c.(469-471)tcC>tcT	p.S157S	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.S157S|AGAP3_uc010lpy.1_Silent_p.S157S|AGAP3_uc003wjh.1_Silent_p.S337S	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	121	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AGGAGGAGTCCCCTGAAGGTG	0.677000														48			50		0	0	0.003610	0	0
SLC2A11	66035	broad.mit.edu	37	22	24217312	24217312	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:24217312C>T	uc011ajc.1	+	3	801	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SLC2A11_uc002zyl.1_Missense_Mutation_p.S104F|SLC2A11_uc002zym.4_Missense_Mutation_p.S104F|SLC2A11_uc002zyn.4_Missense_Mutation_p.S97F|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Missense_Mutation_p.S91F|SLC2A11_uc002zyp.4_Missense_Mutation_p.S100F			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	97						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.S104Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						AGGAAGAAGTCCCTCCTGGTG	0.512000														34			17		0	0	0.007413	0	0
P2RX4	5025	broad.mit.edu	37	12	121660807	121660807	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:121660807C>G	uc001tzr.3	+	4	789	c.485C>G	c.(484-486)gCg>gGg	p.A162G	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.3_Intron|P2RX4_uc010szt.2_Missense_Mutation_p.A61G|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	162					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTGAGGTGGCGGCCTGGTGC	0.562000														196			53		0	0	0.003610	0	0
SNX33	257364	broad.mit.edu	37	15	75942805	75942805	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:75942805G>A	uc002bau.3	+	0	1458	c.1362G>A	c.(1360-1362)ggG>ggA	p.G454G	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_Intron	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	454	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AAGCCATCGGGGAGATGTTTG	0.552000														82			44		0	0	0.010771	0	0
ETS2	2114	broad.mit.edu	37	21	40191432	40191432	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:40191432C>T	uc002yxf.3	+	8	1277	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	ETS2_uc002yxg.3_Missense_Mutation_p.P273S	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	273					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.M412I(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GCCAGGGACTCCCAAAGACCA	0.547000														27			19		0	0	0.008871	0	0
CASC3	22794	broad.mit.edu	37	17	38296815	38296815	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:38296815G>C	uc010cwt.1	+	0	309	c.14G>C	c.(13-15)cGg>cCg	p.R5P	CASC3_uc010cws.1_Missense_Mutation_p.R5P|CASC3_uc002hue.3_Missense_Mutation_p.R5P	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	5					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCGGACCGGCGGCGGCAGCGC	0.706000														66			12		0	0	0.003163	0	0
CUBN	8029	broad.mit.edu	37	10	17088024	17088024	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:17088024G>A	uc001ioo.3	-	23	3451	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1133	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTATGAGAGATGATTGTTG	0.378000														35			23		0	0	0.002299	0	0
AMDHD2	51005	broad.mit.edu	37	16	2577843	2577843	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2577843C>T	uc010uwc.2	+	4	582	c.485C>T	c.(484-486)tCc>tTc	p.S162F	AMDHD2_uc002cqp.3_Missense_Mutation_p.S162F|AMDHD2_uc002cqq.3_Missense_Mutation_p.S162F|AMDHD2_uc010uwd.2_5'UTR	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	162					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CACCTCCGCTCCTTCGAGGCC	0.692000														12			9		0	0	0.006214	0	0
STAT6	6778	broad.mit.edu	37	12	57499067	57499068	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57499067_57499068GG>AA	uc009zpg.3	-	8	1016_1017	c.1014_1015CC>TT	c.(1012-1017)ttccag>ttTTag	p.Q339*	STAT6_uc009zpe.3_Nonsense_Mutation_p.Q290*|STAT6_uc001sna.3_Nonsense_Mutation_p.Q290*|STAT6_uc009zpf.3_Nonsense_Mutation_p.Q290*|STAT6_uc010srb.2_Nonsense_Mutation_p.Q180*|STAT6_uc010src.2_Nonsense_Mutation_p.Q180*|STAT6_uc010srd.2_Nonsense_Mutation_p.Q180*	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	290					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ACTCCAGCCTGGAACTTGGTCT	0.629000														39			25		0	0	0.004672	0	0
NEK10	152110	broad.mit.edu	37	3	27385792	27385792	+	Silent	SNP	G	A	A	rs150437265	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:27385792G>A	uc003cdt.2	-	5	607	c.333C>T	c.(331-333)acC>acT	p.T111T	NEK10_uc021wuk.1_Silent_p.T111T	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	111							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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						TCACCAAGGCGGTAAAGATCT	0.363000														11			7		0	0	0.004482	0	0
CCNE1	898	broad.mit.edu	37	19	30313187	30313187	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:30313187T>C	uc002nsn.3	+	9	1064	c.881T>C	c.(880-882)tTt>tCt	p.F294S	CCNE1_uc002nso.3_Missense_Mutation_p.F279S	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	294					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TGCCTTGAATTTCCTTATGGT	0.453000			A		serous ovarian									86			53		0	0	0.003610	0	0
NLRP11	204801	broad.mit.edu	37	19	56321439	56321439	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:56321439C>T	uc010ygf.2	-	4	1248	c.537G>A	c.(535-537)atG>atA	p.M179I	NLRP11_uc002qlz.3_Missense_Mutation_p.M80I|NLRP11_uc002qmb.3_Missense_Mutation_p.M80I|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	179	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CGTACGAGATCATGTTCTGCC	0.493000														19			13		0	0	0.001855	0	0
HRASLS	57110	broad.mit.edu	37	3	192973573	192973573	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:192973573C>A	uc003fta.3	+	1	539	c.134C>A	c.(133-135)cCt>cAt	p.P45H		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	45										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		AACATAGCACCTGTAGGTGAG	0.468000														90			55		3.10202e-16	3.39015e-16	0.003610	1	0
MMP28	79148	broad.mit.edu	37	17	34095331	34095331	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:34095331C>T	uc002hjy.1	-	6	1174	c.915G>A	c.(913-915)tgG>tgA	p.W305*	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	306					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTAGGAGTCCCAGGTCTCAA	0.552000														44			26		0	0	0.004656	0	0
LPHN2	23266	broad.mit.edu	37	1	82432110	82432110	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:82432110C>T	uc001dit.4	+	11	2296	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.I705I|LPHN2_uc001div.3_Silent_p.I705I|LPHN2_uc009wcd.3_Silent_p.I705I|LPHN2_uc001diw.3_Silent_p.I289I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	718					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGTGTTCATCATTTACCGGA	0.363000														28			15		0	0	0.004007	0	0
ZFP90	146198	broad.mit.edu	37	16	68598392	68598392	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:68598392C>T	uc010cff.3	+	4	1994	c.1702C>T	c.(1702-1704)Ctc>Ttc	p.L568F	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.L568F|ZFP90_uc002ewe.3_Missense_Mutation_p.L568F	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	568					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AAGTTCATCTCTCATTCAGCA	0.438000														104			45		0	0	0.013114	0	0
PHF15	23338	broad.mit.edu	37	5	133909398	133909398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:133909398C>T	uc003kzk.2	+	9	1584	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	PHF15_uc011cxt.1_Nonsense_Mutation_p.Q500*|PHF15_uc003kzl.2_Nonsense_Mutation_p.Q500*|PHF15_uc003kzm.2_Nonsense_Mutation_p.Q500*|PHF15_uc003kzn.2_Intron|PHF15_uc003kzo.1_Nonsense_Mutation_p.Q500*|PHF15_uc003kzp.3_Nonsense_Mutation_p.Q208*	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	500					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCAAACTCCAGGAGCAGAT	0.522000														40			27		0	0	0.005443	0	0
PAN3	255967	broad.mit.edu	37	13	28771364	28771364	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:28771364C>T	uc001urz.3	+	4	885	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S	PAN3_uc010tdo.1_Missense_Mutation_p.P245S|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Intron	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	245	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAGGCTAGTTCCGATGGGATC	0.483000														8			13		0	0	0.004007	0	0
CLVS2	134829	broad.mit.edu	37	6	123369860	123369860	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:123369860G>A	uc003pzi.1	+	3	1527	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	220	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTTCCTGAAGGAGAAAACTCG	0.388000														36			58		0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28965108	28965108	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:28965108G>A	uc002kwr.2	+	1	193	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	DSG4_uc002kwq.2_Missense_Mutation_p.E20K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	20					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTGGTGATGGAAGTAAACAG	0.229000														26			14		0	0	0.003163	0	0
DENND2A	27147	broad.mit.edu	37	7	140301517	140301517	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:140301517G>A	uc010lnk.3	-	2	1201	c.681C>T	c.(679-681)ccC>ccT	p.P227P	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.P227P|DENND2A_uc003vvw.3_Silent_p.P227P|DENND2A_uc003vvx.3_Silent_p.P227P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	227										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTCAGGGGTGGGCTCCCTGC	0.637000														164			94		0	0	0.003610	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751332	26751332	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:26751332G>A	uc003cdp.3	+	1	758	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E57K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E57K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	57	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAATCTCAAGGAAATACCTAG	0.413000														55			25		0	0	0.003954	0	0
C3	718	broad.mit.edu	37	19	6684608	6684608	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:6684608G>A	uc002mfm.3	-	31	4145	c.4083C>T	c.(4081-4083)ttC>ttT	p.F1361F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1361					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTTGAGGTCGAATTTATTAC	0.483000														45			31		0	0	0.003755	0	0
ABCA3	21	broad.mit.edu	37	16	2338046	2338046	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2338046C>T	uc002cpy.1	-	20	3697	c.2985G>A	c.(2983-2985)caG>caA	p.Q995Q	ABCA3_uc010bsk.1_Silent_p.Q937Q	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	995					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGCGGGGCTCCTGTCCCTCAG	0.672000														16			9		0	0	0.010729	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269947	150269947	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:150269947C>T	uc003whl.3	+	2	871	c.789C>T	c.(787-789)atC>atT	p.I263I	GIMAP4_uc011kuu.2_Silent_p.I124I|GIMAP4_uc011kuv.2_Silent_p.I277I	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	263							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAAAATCAGAAAGCTGG	0.463000														21			16		0	0	0.004990	0	0
SCN10A	6336	broad.mit.edu	37	3	38739881	38739881	+	Silent	SNP	G	A	A	rs139221219		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38739881G>A	uc003ciq.3	-	26	4830	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1610					sensory perception	voltage-gated sodium channel complex		p.I1610I(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAACAGCCCGATGTTGAAGA	0.552000														64			53		0	0	0.003610	0	0
GPR142	350383	broad.mit.edu	37	17	72368006	72368006	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72368006G>A	uc021ucp.1	+	3	656	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GPR142_uc010wqy.2_Missense_Mutation_p.G219E	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	219						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.F215L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTCCTGCAGGGAGCAGTGCTG	0.632000														39			9		0	0	0.008291	0	0
GPR142	350383	broad.mit.edu	37	17	72363866	72363867	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:72363866_72363867GG>AA	uc021ucp.1	+	0	222_223	c.213_214GG>AA	c.(211-216)aaggac>aaAAac	p.D72N	GPR142_uc010wqy.2_Missense_Mutation_p.D75N	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	75						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.P72S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCCATCCAAGGACTCCAGCAG	0.564000														21			24		0	0	0.004672	0	0
MCM2	4171	broad.mit.edu	37	3	127334776	127334776	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:127334776C>A	uc003ejp.3	+	8	1557	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L	MCM2_uc011bkm.2_Missense_Mutation_p.F370L|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.F453L	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	500	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGGCCCTGTTCGGAGGGGAGC	0.537000														76			44		1.86633e-21	2.04889e-21	0.003610	1	0
ZNF167	55888	broad.mit.edu	37	3	44612222	44612222	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:44612222C>T	uc003cnj.3	+	5	2036	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Silent_p.D540D|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	540					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		ATCTCATTGACCATCAGAGAA	0.448000														55			55		0	0	0.003610	0	0
PRSS33	260429	broad.mit.edu	37	16	2836100	2836100	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2836100C>T	uc002cro.1	-	1	229	c.69G>A	c.(67-69)agG>agA	p.R23R	PRSS33_uc002crp.1_Silent_p.R23R	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	Homo sapiens protease, serine, 33 (PRSS33), mRNA.	23					proteolysis		serine-type endopeptidase activity			prostate(1)	1						CTGCAGACTTCCTTCCCTGAG	0.612000														25			21		0	0	0.002780	0	0
PDPK1	5170	broad.mit.edu	37	16	2647217	2647218	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2647217_2647218CC>TT	uc002cqs.3	+	12	1639_1640	c.1495_1496CC>TT	c.(1495-1497)cct>TTt	p.P499F	PDPK1_uc002cqt.3_Missense_Mutation_p.P372F|PDPK1_uc010bsn.3_Intron|PDPK1_uc002cqu.3_Missense_Mutation_p.P472F	NM_002613	NP_002604	O15530	PDPK1_HUMAN	Homo sapiens 3-phosphoinositide dependent protein kinase-1 (PDPK1), transcript variant 1, mRNA.	499	PH.				T cell costimulation|T cell receptor signaling pathway|actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGGTGAAATTCCTTGGTCACAA	0.446000														48			49		0	0	0.004672	0	0
CST9	128822	broad.mit.edu	37	20	23584341	23584341	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:23584341G>A	uc002wtl.3	-	1	395	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	96						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CGCAGTTGCAGATTCATGGAG	0.463000														89			49		0	0	0.003610	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227489	56227489	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:56227489G>A	uc002xyq.3	-	3	877	c.484C>T	c.(484-486)Cag>Tag	p.Q162*	PMEPA1_uc002xyr.3_Nonsense_Mutation_p.Q112*|PMEPA1_uc002xys.3_Nonsense_Mutation_p.Q127*|PMEPA1_uc002xyt.3_Nonsense_Mutation_p.Q112*	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	162					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CAGGGGCCCTGGTAGGGTGGG	0.657000														18			10		0	0	0.006214	0	0
MAP4K4	9448	broad.mit.edu	37	2	102499089	102499089	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:102499089G>A	uc002tbc.3	+	26	3648	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	MAP4K4_uc002tbf.3_Silent_p.E1043E|MAP4K4_uc002tbd.3_Silent_p.E982E|MAP4K4_uc010yvy.2_Silent_p.E1005E|MAP4K4_uc002tbh.3_Silent_p.E927E|MAP4K4_uc002tbg.3_Silent_p.E1009E|MAP4K4_uc002tbi.3_Silent_p.E812E|MAP4K4_uc010yvz.2_Silent_p.E1049E|MAP4K4_uc002tbk.3_Silent_p.E464E|MAP4K4_uc021vlq.1_Silent_p.E195E|MAP4K4_uc002tbl.3_Silent_p.E195E	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	1009	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGAAGTTGAGAAGAAGCAGG	0.338000														60			38		0	0	0.008740	0	0
RTN4	57142	broad.mit.edu	37	2	55254463	55254463	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:55254463C>T	uc002rye.3	-	2	1070	c.772G>A	c.(772-774)Gta>Ata	p.V258I	RTN4_uc002ryd.3_Missense_Mutation_p.V52I|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	258					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GTGGGTAATACTGTTGACAAA	0.413000														38			29		0	0	0.008361	0	0
CERKL	375298	broad.mit.edu	37	2	182412563	182412563	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:182412563C>T	uc002unx.3	-	9	1324	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.G382E|CERKL_uc010zfm.2_Missense_Mutation_p.G364E|CERKL_uc002unz.3_Missense_Mutation_p.G130E|CERKL_uc002uoa.3_Missense_Mutation_p.G313E|CERKL_uc002uob.3_Missense_Mutation_p.G130E|CERKL_uc002uoc.3_Missense_Mutation_p.G269E|CERKL_uc021vth.1_Missense_Mutation_p.G177E|CERKL_uc021vti.1_Missense_Mutation_p.G130E|CERKL_uc021vtj.1_Missense_Mutation_p.G85E|CERKL_uc021vtk.1_Missense_Mutation_p.G130E|CERKL_uc021vtl.1_Missense_Mutation_p.G85E|CERKL_uc021vtm.1_Missense_Mutation_p.G177E|CERKL_uc002uod.2_Missense_Mutation_p.G177E|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	408					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.P408L(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTGGGAGATCCCTGTGCCCT	0.393000														77			55		0	0	0.003610	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332526	71332526	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:71332526C>T	uc001jpp.3	-	1	520	c.274G>A	c.(274-276)Gag>Aag	p.E92K	NEUROG3_uc021pry.1_Missense_Mutation_p.E92K	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	92					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGATTGCGCTCGCGGTCGTTG	0.657000														21			12		0	0	0.001368	0	0
PHRF1	57661	broad.mit.edu	37	11	609256	609257	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:609256_609257CC>TT	uc001lqe.3	+	13	3931_3932	c.3800_3801CC>TT	c.(3799-3801)gcc>gTT	p.A1267V	PHRF1_uc010qwc.2_Missense_Mutation_p.A1266V|PHRF1_uc010qwd.2_Missense_Mutation_p.A1265V|PHRF1_uc010qwe.2_Missense_Mutation_p.A1263V|PHRF1_uc009ybz.1_Missense_Mutation_p.A1057V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1267							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGTGGAGGCCGGACACGTCT	0.619000														19			44		0	0	0.004672	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768661	24768661	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:24768661C>T	uc001bjh.3	+	3	686	c.279C>T	c.(277-279)tcC>tcT	p.S93S	NIPAL3_uc010oek.2_Silent_p.S93S|NIPAL3_uc009vrc.3_Silent_p.S11S	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	93						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGTTCGCCTCCTACGCCTTCG	0.637000														71			43		0	0	0.013114	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537114	5537114	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:5537114G>A	uc001maz.4	-	0	843	c.558C>T	c.(556-558)tcC>tcT	p.S186S	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	186										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACTCCATGTTGGACAGAAGCC	0.483000														35			83		0	0	0.003610	0	0
TRIM36	55521	broad.mit.edu	37	5	114483050	114483050	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:114483050G>A	uc003kqs.3	-	2	849	c.340C>T	c.(340-342)Cct>Tct	p.P114S	TRIM36_uc011cwc.2_Missense_Mutation_p.P102S|TRIM36_uc003kqt.3_5'UTR	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	114						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CCAGGGCAAGGGAAAACAGTT	0.413000														70			27		0	0	0.003271	0	0
OR10A6	390093	broad.mit.edu	37	11	7949784	7949784	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:7949784C>T	uc010rbh.2	-	0	426	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAATTAATTTCATAAAAACTC	0.358000														6			21		0	0	0.012319	0	0
SVOPL	136306	broad.mit.edu	37	7	138312121	138312121	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:138312121G>T	uc011kqh.2	-	10	1155	c.1155C>A	c.(1153-1155)ttC>ttA	p.F385L	SVOPL_uc003vue.3_Missense_Mutation_p.F233L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	385			F -> C (in dbSNP:rs2305816).			integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TGAGGAGAAGGAAGAATAAAG	0.413000														21			17		5.03518e-11	5.46602e-11	0.007413	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430749	37430749	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:37430749C>T	uc021ppc.1	+	6	855	c.756C>T	c.(754-756)ccC>ccT	p.P252P	ANKRD30A_uc001iza.1_Silent_p.P252P	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	308						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGCTGCACCCTTGGTGGAAA	0.498000														32			19		0	0	0.008871	0	0
PANX3	116337	broad.mit.edu	37	11	124481543	124481543	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:124481543G>A	uc001qah.3	+	0	91	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	31					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACTGCGTCTGGAACTGCCCCT	0.587000														11			29		0	0	0.010818	0	0
DNAH11	8701	broad.mit.edu	37	7	21695568	21695568	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:21695568C>A	uc003svc.3	+	28	5109	c.5078C>A	c.(5077-5079)cCa>cAa	p.P1693Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1693	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGTATGTCCCATTCCAAGCC	0.428000									Kartagener syndrome					50			18		8.34094e-07	9.02107e-07	0.008871	1	0
TAF3	83860	broad.mit.edu	37	10	8007004	8007004	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:8007004G>C	uc010qbd.2	+	2	1531	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	511	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.E511E(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGTGTATGAGGAGAAAACCAA	0.443000														69			45		0	0	0.003610	0	0
ABCA11P	79963	broad.mit.edu	37	4	436647	436647	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:436647C>T	uc003gaf.4	-	2	1931	c.1705G>A	c.(1705-1707)Gcc>Acc	p.A569T	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.A537T|ABCA11P_uc010ibe.3_Missense_Mutation_p.A525T	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TGTCTAAAGGCTTTGCCACAT	0.408000														116			4		0	0	0.009096	0	0
CPNE6	9362	broad.mit.edu	37	14	24546586	24546586	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:24546586G>A	uc010tnv.2	+	15	1834	c.1688G>A	c.(1687-1689)cGa>cAa	p.R563Q	CPNE6_uc001wlm.3_Missense_Mutation_p.R333Q|CPNE6_uc001wll.3_Missense_Mutation_p.R508Q|CPNE6_uc001wln.3_Missense_Mutation_p.R176Q	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	508					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTGCCCTTCCGAGACTTCAAG	0.617000														44			25		0	0	0.006320	0	0
PRKCE	5581	broad.mit.edu	37	2	46237610	46237610	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:46237610G>A	uc002rut.3	+	9	1588	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	464	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCTCTGGCACGGAAACACCCG	0.488000														42			24		0	0	0.003954	0	0
SPATA20	64847	broad.mit.edu	37	17	48628457	48628457	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:48628457G>A	uc002ird.3	+	11	1623	c.1482G>A	c.(1480-1482)cgG>cgA	p.R494R	SPATA20_uc002irc.3_Silent_p.R145R|SPATA20_uc002ire.3_Silent_p.R434R|SPATA20_uc002irf.3_Silent_p.R478R|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	478					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	p.V493L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGGCCGTGCGGACCTTGCTCA	0.642000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			14		0	0	0.003163	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499750	104499750	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:104499750G>A	uc004bbp.2	-	0	1113	c.512C>T	c.(511-513)tCg>tTg	p.S171L	GRIN3A_uc004bbq.1_Missense_Mutation_p.S171L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	171					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTCCATGGCGAACTAGGGGA	0.607000														11			13		0	0	0.003163	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555345	44555345	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:44555345G>A	uc010xdb.2	-	0	1105	c.869C>T	c.(868-870)gCc>gTc	p.A290V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGGTCATGGCCTCAAAAGC	0.622000														252			21		0	0	0.008361	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737657	62737657	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:62737657G>A	uc011abt.2	-	0	528	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	176						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCAGAACCAGGACCGTGACGC	0.662000														18			4		0	0	0.009096	0	0
BMP2	650	broad.mit.edu	37	20	6759539	6759539	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:6759539C>T	uc002wmu.1	+	2	1779	c.994C>T	c.(994-996)Cct>Tct	p.P332S		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	332					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ATGCCCTTTTCCTCTGGCTGA	0.507000														41			23		0	0	0.003330	0	0
abParts	0	broad.mit.edu	37	14	106354439	106354439	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:106354439C>T	uc021ser.1	-	3852		c.57923_splice	c.e3852-1		KIAA0125_uc001ysq.3_5'Flank|KIAA0125_uc001ysr.3_5'Flank					Parts of antibodies, mostly variable regions.																		AATATGCTCACAGTGACACGA	0.577000														17			9		0	0	0.008291	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515705	47515705	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:47515705G>A	uc001cqt.3	+	11	1639	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	CYP4X1_uc001cqr.3_Silent_p.E462E|CYP4X1_uc001cqs.3_Silent_p.E398E	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	463						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCATGATTGAGTTAAAGGTAA	0.428000														71			44		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179456111	179456111	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179456111G>A	uc021vsy.1	-	252	52862	c.52637C>T	c.(52636-52638)aCc>aTc	p.T17546I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11241I|TTN_uc021vta.1_Missense_Mutation_p.T11174I|TTN_uc021vtb.1_Missense_Mutation_p.T11049I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18473	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCCATCGGTTGTCCACTT	0.433000														233			127		0	0	0.003610	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526703	106526703	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:106526703G>A	uc003vdv.4	+	9	3081	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	PIK3CG_uc003vdu.3_Missense_Mutation_p.G999E|PIK3CG_uc003vdw.3_Missense_Mutation_p.G999E	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	999	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGAACTTCTGGAAAGAAGACA	0.478000														57			35		0	0	0.006999	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271902	15271902	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:15271902G>A	uc002nan.3	-	32	6613	c.6537C>T	c.(6535-6537)gcC>gcT	p.A2179A		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2179					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCCTGGAGGGGCAGGTGGGG	0.731000														0			2		0	0	0.004672	0	0
NLRP3	114548	broad.mit.edu	37	1	247582221	247582221	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:247582221C>A	uc001icr.3	+	2	263	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	NLRP3_uc001ics.3_Missense_Mutation_p.P42Q|NLRP3_uc001icu.3_Missense_Mutation_p.P42Q|NLRP3_uc001icw.3_Missense_Mutation_p.P42Q|NLRP3_uc001icv.3_Missense_Mutation_p.P42Q|NLRP3_uc010pyw.2_Missense_Mutation_p.P40Q|NLRP3_uc001ict.1_Missense_Mutation_p.P40Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P42Q(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCCCCCTCCCGAGGGGTCAG	0.557000														38			15		4.93089e-13	5.36878e-13	0.002450	1	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:108568024G>A	uc003dxi.1	+	4	370	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_uc010hpx.1_Missense_Mutation_p.E39K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	76					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000														20			18		0	0	0.008871	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822755	56822755	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:56822755G>A	uc001slf.2	-	10	1384	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	TIMELESS_uc001slg.2_Missense_Mutation_p.R405C	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	406					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGAAGGTACGGACACTGAGG	0.552000														42			21		0	0	0.002299	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49969058	49969058	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49969058C>T	uc002pnt.3	+	12	1748	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	ALDH16A1_uc010yar.2_Silent_p.S493S|ALDH16A1_uc010yas.2_Silent_p.S379S|ALDH16A1_uc010yat.2_Silent_p.S381S	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	544							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCGAAGCTCCAGGCCCATCC	0.662000														32			18		0	0	0.007413	0	0
CHST5	23563	broad.mit.edu	37	16	75563417	75563417	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:75563417C>T	uc002fej.1	-	4	1205	c.884G>A	c.(883-885)cGc>cAc	p.R295H	CHST5_uc002fei.3_Missense_Mutation_p.R289H|CHST5_uc021tlk.1_Missense_Mutation_p.R289H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	289					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CAGGCGGTAGCGGCCGCGCAG	0.716000														55			24		0	0	0.004656	0	0
OR51F1	256892	broad.mit.edu	37	11	4791139	4791139	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:4791139G>A	uc010qyl.2	-	0	9	c.9C>T	c.(7-9)atC>atT	p.I3I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	3						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTTGCTTAGGATTTCCATGG	0.388000														2			8		0	0	0.008291	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118021	118021	+	RNA	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrGL000205.1:118021G>A	uc002kgk.4	+	0		c.1399G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAATACGAGGGGCAGCCCTCG	0.567000														100			6		0	0	0.001168	0	0
KDM5C	8242	broad.mit.edu	37	X	53243945	53243945	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:53243945G>A	uc004drz.3	-	7	1581	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	KDM5C_uc022bxe.1_Missense_Mutation_p.H283Y|KDM5C_uc004dsa.3_Missense_Mutation_p.H349Y	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	350					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAGAAGATGTGGTAGTTGTCA	0.567000			"""N, F, S"""		clear cell renal carcinoma									5			38		0	0	0.008740	0	0
POU2F2	5452	broad.mit.edu	37	19	42600283	42600283	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:42600283T>C	uc002osp.3	-	7	676	c.614A>G	c.(613-615)cAa>cGa	p.Q205R	POU2F2_uc002osn.3_Missense_Mutation_p.Q189R|POU2F2_uc002osq.3_Missense_Mutation_p.Q189R|POU2F2_uc002osr.2_Missense_Mutation_p.Q205R	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	205	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGGGCGAATTGCTCCAGCTC	0.677000														13			10		0	0	0.008291	0	0
LRP1	4035	broad.mit.edu	37	12	57550673	57550673	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57550673A>G	uc001snd.3	+	9	1997	c.1531A>G	c.(1531-1533)Agc>Ggc	p.S511G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	511	EGF-like 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTCCGGCTTCAGCCTGGGCAG	0.637000														13			6		0	0	0.008291	0	0
GPR98	84059	broad.mit.edu	37	5	90124894	90124894	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:90124894C>T	uc003kju.3	+	76	16598	c.16502C>T	c.(16501-16503)tCt>tTt	p.S5501F	GPR98_uc003kjt.3_Missense_Mutation_p.S3207F|GPR98_uc003kjw.3_Missense_Mutation_p.S1162F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5501					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGTATTTTTCTGTGGGTTCT	0.438000														110			60		0	0	0.003610	0	0
SMYD2	56950	broad.mit.edu	37	1	214500988	214500988	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:214500988G>A	uc021pix.1	+	6	659	c.626G>A	c.(625-627)tGt>tAt	p.C209Y	SMYD2_uc021piw.1_Missense_Mutation_p.C117Y|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	209	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AATCATAGCTGTTGCCCCAAT	0.458000											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		151			46		0	0	0.003610	0	0
EVC2	132884	broad.mit.edu	37	4	5570324	5570324	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:5570324G>A	uc003gij.3	-	19	3458	c.3404C>T	c.(3403-3405)cCc>cTc	p.P1135L	EVC2_uc003gik.3_Missense_Mutation_p.P1055L|EVC2_uc011bwb.2_Missense_Mutation_p.P575L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1135						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CGTGGCCCCGGGCACCATGGC	0.622000														25			13		0	0	0.002450	0	0
TDRD6	221400	broad.mit.edu	37	6	46660228	46660228	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:46660228C>T	uc003oyj.3	+	0	4617	c.4363C>T	c.(4363-4365)Caa>Taa	p.Q1455*	TDRD6_uc010jze.3_Nonsense_Mutation_p.Q1455*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1455				Q -> R (in Ref. 3; CAI45997).	cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTTAAATTTCAAGACAGATG	0.373000														113			25		0	0	0.006320	0	0
GRIA3	2892	broad.mit.edu	37	X	122528859	122528859	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:122528859G>A	uc004etq.4	+	5	1083	c.791G>A	c.(790-792)gGa>gAa	p.G264E	GRIA3_uc004etr.4_Missense_Mutation_p.G264E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G248E	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	264					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G264E(4)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATGCATGGGGGAGCCAACATT	0.428000														10			82		0	0	0.003610	0	0
SSFA2	6744	broad.mit.edu	37	2	182767010	182767010	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:182767010T>C	uc002uoi.3	+	7	1552	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	SSFA2_uc002uoh.3_Silent_p.S410S|SSFA2_uc002uoj.3_Silent_p.S410S|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.S257S|SSFA2_uc002uol.3_Silent_p.S257S	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	410						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTGAGGAATCTGGTATTGTAG	0.358000														28			16		0	0	0.006122	0	0
KCTD20	222658	broad.mit.edu	37	6	36454878	36454878	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:36454878C>T	uc003ome.3	+	7	1577	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	KCTD20_uc011dtn.2_Missense_Mutation_p.P150S|KCTD20_uc010jwk.3_Missense_Mutation_p.P230S|KCTD20_uc011dto.2_Missense_Mutation_p.P150S|KCTD20_uc011dtm.2_Missense_Mutation_p.P251S	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	396						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AATGCATCACCCACCCCAAGT	0.498000														178			67		0	0	0.003610	0	0
CFHR1	3078	broad.mit.edu	37	1	196757423	196757423	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:196757423G>A	uc001gtl.3	+	3	595	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.E170K|CFHR1_uc010poy.2_Intron|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	171	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						tttaaataaagaaatacaata	0.294000														18			19		0	0	0.006122	0	0
GLYAT	10249	broad.mit.edu	37	11	58478113	58478113	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:58478113G>A	uc001nnb.3	-	4	593	c.438C>T	c.(436-438)ttC>ttT	p.F146F	GLYAT_uc001nnc.3_Silent_p.F146F	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	146					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATTTCAGCAGGAAAGGAGTCA	0.418000														24			92		0	0	0.003610	0	0
CELSR1	9620	broad.mit.edu	37	22	46794452	46794452	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:46794452G>A	uc003bhw.1	-	10	5495	c.5495C>T	c.(5494-5496)tCc>tTc	p.S1832F	CELSR1_uc011arc.1_Missense_Mutation_p.S153F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1832	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGCGCACGGAGACCTTGTC	0.682000														40			20		0	0	0.002299	0	0
COL6A2	1292	broad.mit.edu	37	21	47546096	47546096	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr21:47546096C>T	uc002zia.1	+	25	2449	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	COL6A2_uc002zhz.1_Silent_p.F789F|COL6A2_uc002zhy.1_Silent_p.F789F|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	789	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGACGCTGTTCTCCGACCTGG	0.627000														181			97		0	0	0.003610	0	0
PLEK	5341	broad.mit.edu	37	2	68622819	68622819	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:68622819G>C	uc002sen.4	+	8	1086	c.924G>C	c.(922-924)aaG>aaC	p.K308N	PLEK_uc010fde.3_3'UTR	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	308	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CAGGCAGGAAGAGTGAGGAAG	0.512000														78			36		0	0	0.006230	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546535	2546535	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:2546535C>T	uc002cql.3	+	1	526	c.386C>T	c.(385-387)tCc>tTc	p.S129F	TBC1D24_uc002cqk.3_Missense_Mutation_p.S129F|TBC1D24_uc002cqm.3_Missense_Mutation_p.S129F|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	129	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCCGACATCTCCTTCTGCCCC	0.667000														44			13		0	0	0.003163	0	0
ATP13A1	57130	broad.mit.edu	37	19	19767485	19767485	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:19767485G>C	uc002nnh.4	-	6	1095	c.1067C>G	c.(1066-1068)tCc>tGc	p.S356C	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Missense_Mutation_p.S238C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	356					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGTGGCACGGACTCCCCCGT	0.647000														16			6		0	0	0.001984	0	0
ADAM33	80332	broad.mit.edu	37	20	3655201	3655201	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:3655201G>A	uc002wit.3	-	5	637	c.550C>T	c.(550-552)Cct>Tct	p.P184S	ADAM33_uc002wir.1_Missense_Mutation_p.P184S|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.P184S|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.P196S|ADAM33_uc010zqh.1_Missense_Mutation_p.P184S	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	184					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGTTCCCAGGATCCCTGTGG	0.612000														57			32		0	0	0.004289	0	0
DAB2	1601	broad.mit.edu	37	5	39381627	39381627	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:39381627G>A	uc003jlx.3	-	10	1964	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	DAB2_uc003jlw.3_Missense_Mutation_p.A457V	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	478					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGCTGCAGGGCTGTAGGTTG	0.542000														68			35		0	0	0.003755	0	0
TCEB3	6924	broad.mit.edu	37	1	24080687	24080687	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:24080687C>T	uc001bho.3	+	5	1773	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	571	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGCCTATCTCCCTAAAATGA	0.453000														52			36		0	0	0.007835	0	0
GYPA	2993	broad.mit.edu	37	4	145038032	145038032	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:145038032G>A	uc003ijo.4	-	4	448	c.332C>T	c.(331-333)tCt>tTt	p.S111F	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.S78F|GYPA_uc003ijp.4_Missense_Mutation_p.S79F|GYPA_uc010ioq.3_Missense_Mutation_p.S98F|GYPA_uc010ior.3_Missense_Mutation_p.S46F|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	111					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AATACCGTAAGAAATTAAGAG	0.373000														94			57		0	0	0.003610	0	0
TTLL4	9654	broad.mit.edu	37	2	219617635	219617635	+	Silent	SNP	A	T	T	rs139732351		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:219617635A>T	uc002viy.3	+	16	3496	c.3126A>T	c.(3124-3126)ccA>ccT	p.P1042P	TTLL4_uc010zkl.1_Silent_p.P877P|TTLL4_uc010fvx.3_Silent_p.P978P|TTLL4_uc010zkm.1_Silent_p.P245P	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1042					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTGAGCAGCCACGATATTTCA	0.453000														98			12		0	0	0.003163	0	0
STAG2	10735	broad.mit.edu	37	X	123227933	123227933	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:123227933C>T	uc004eua.3	+	32	4048	c.3644C>T	c.(3643-3645)tCa>tTa	p.S1215L	STAG2_uc004etz.4_Missense_Mutation_p.S1178L|STAG2_uc004eub.3_Missense_Mutation_p.S1178L|STAG2_uc004euc.3_Missense_Mutation_p.S1215L|STAG2_uc004eud.3_Missense_Mutation_p.S1178L|STAG2_uc004eue.3_Missense_Mutation_p.S1178L	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	1178					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGATGTCCTCAGAAGGGAGG	0.373000														11			111		0	0	0.003610	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333888	37333888	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:37333888G>A	uc003aqa.4	+	13	2255	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R	CSF2RB_uc003aqc.4_Missense_Mutation_p.G686R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	680					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCTGCTCTTGGGCCAAGGGT	0.657000														16			14		0	0	0.002450	0	0
C12orf76	400073	broad.mit.edu	37	12	110495058	110495058	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:110495058G>A	uc001tqd.1	-	3	600	c.235C>T	c.(235-237)Cct>Tct	p.P79S	C12orf76_uc001tqe.1_Non-coding_Transcript|C12orf76_uc010sxx.1_Non-coding_Transcript|C12orf76_uc001tqf.1_Intron	NM_207435	NP_997318	Q8N812	CL076_HUMAN	Homo sapiens chromosome 12 open reading frame 76 (C12orf76), mRNA.	79										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGCTCTGCAGGGAGGATGTGC	0.502000														31			11		0	0	0.001368	0	0
ZNF434	54925	broad.mit.edu	37	16	3433091	3433091	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:3433091G>T	uc002cux.4	-	6	2111	c.1852C>A	c.(1852-1854)Cag>Aag	p.Q618K	ZNF434_uc010uwx.2_Missense_Mutation_p.Q330K|ZNF434_uc002cuy.4_Missense_Mutation_p.Q330K|ZNF434_uc002cuz.3_Missense_Mutation_p.Q407K	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q407E(1)|p.L61L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCACTGAACTGGGAACTGTTG	0.527000														61			18		1.00905e-13	1.1003e-13	0.008871	1	0
OPN4	94233	broad.mit.edu	37	10	88414668	88414668	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:88414668C>T	uc010qmk.1	+	0	355	c.128C>T	c.(127-129)cCa>cTa	p.P43L	OPN4_uc001kdp.3_Missense_Mutation_p.P43L|OPN4_uc001kdq.3_Missense_Mutation_p.P43L	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	43					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCCGGCTTCCATCCATCAGT	0.657000														22			21		0	0	0.012319	0	0
SYNPO	11346	broad.mit.edu	37	5	150028727	150028727	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:150028727G>A	uc003lsn.3	+	2	1996	c.1622G>A	c.(1621-1623)aGg>aAg	p.R541K	SYNPO_uc021yfu.1_Missense_Mutation_p.R541K|SYNPO_uc003lso.4_Missense_Mutation_p.R297K|SYNPO_uc003lsp.3_Missense_Mutation_p.R297K|SYNPO_uc021yfv.1_Missense_Mutation_p.R297K	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	541					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGTGGAAAGGAGGATGATG	0.642000														26			10		0	0	0.006214	0	0
TNK1	8711	broad.mit.edu	37	17	7290739	7290739	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7290739G>A	uc002ggi.4	+	9	1687	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R	TNK1_uc002ggj.4_Silent_p.R480R|TNK1_uc010cmf.3_Non-coding_Transcript	NM_001251902	NP_001238831	Q13470	TNK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA.	485					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCCCAGCACGGGGCCAGAGGA	0.572000														8			8		0	0	0.008291	0	0
C1orf87	127795	broad.mit.edu	37	1	60491080	60491080	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:60491080C>T	uc001czs.2	-	7	1228	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	374							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TACTTTATTTCATTTTGGTAA	0.378000														50			20		0	0	0.008871	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41680721	41680721	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:41680721C>T	uc001znx.3	-	4	1158	c.760_splice	c.e4-1	p.I254_splice	NDUFAF1_uc010bcf.3_Splice_Site	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA.	254					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AAAAAGGAATCTGAAAGAAGA	0.323000														35			12		0	0	0.001368	0	0
CILP	8483	broad.mit.edu	37	15	65490345	65490345	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:65490345C>T	uc002aon.2	-	8	2460	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	760					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547000														121			71		0	0	0.003610	0	0
MYBPC1	4604	broad.mit.edu	37	12	102023306	102023306	+	Silent	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:102023306A>T	uc001tii.3	+	3	338	c.198A>T	c.(196-198)ggA>ggT	p.G66G	MYBPC1_uc001tif.2_Silent_p.G79G|MYBPC1_uc001tig.3_Silent_p.G91G|MYBPC1_uc010svr.2_Silent_p.G66G|MYBPC1_uc010svs.2_Silent_p.G66G|MYBPC1_uc001tij.3_Silent_p.G66G|MYBPC1_uc010svt.2_Silent_p.G54G|MYBPC1_uc010svu.2_Silent_p.G66G|MYBPC1_uc001tik.3_Silent_p.G40G|MYBPC1_uc001tih.3_Silent_p.G91G|MYBPC1_uc010svq.2_Silent_p.G53G	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	66					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.T66A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AACCTCAAGGAGGAACAGTGA	0.488000														29			15		0	0	0.002450	0	0
EML2	24139	broad.mit.edu	37	19	46117952	46117952	+	Missense_Mutation	SNP	G	A	A	rs140164971	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:46117952G>A	uc010xxm.2	-	19	2280	c.2207C>T	c.(2206-2208)cCg>cTg	p.P736L	EML2_uc002pcn.3_Missense_Mutation_p.P535L|EML2_uc002pcp.3_Missense_Mutation_p.P419L|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.P682L	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	535					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACAGGTAGCCGGGTCCCCTGG	0.527000														69			36		0	0	0.004289	0	0
PLEC	5339	broad.mit.edu	37	8	145003928	145003928	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145003928G>A	uc003zaf.1	-	22	3390	c.3220C>T	c.(3220-3222)Ctg>Ttg	p.L1074L	PLEC_uc003zab.1_Silent_p.L937L|PLEC_uc003zac.1_Silent_p.L941L|PLEC_uc003zad.2_Silent_p.L937L|PLEC_uc003zae.1_Silent_p.L905L|PLEC_uc003zag.1_Silent_p.L915L|PLEC_uc003zah.2_Silent_p.L923L|PLEC_uc003zaj.2_Silent_p.L964L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1074	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGTCCCGCAGGAAGGCCTGG	0.692000														6			12		0	0	0.001855	0	0
TNPO3	23534	broad.mit.edu	37	7	128645162	128645162	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:128645162A>T	uc010lly.2	-	4	1007	c.604T>A	c.(604-606)Ttt>Att	p.F202I	TNPO3_uc003vol.2_Missense_Mutation_p.F202I|TNPO3_uc010llz.2_Missense_Mutation_p.F202I|TNPO3_uc003vom.2_Missense_Mutation_p.F136I	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	202					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.V201G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAACAGCGAAAAACCTTCATA	0.318000														62			48		0	0	0.003610	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53096930	53096930	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr13:53096930G>A	uc001vgw.3	+	11		c.1307_splice	c.e11+1							Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		TTTGTAGAAGGGTAAGTTTGA	0.353000														10			8		0	0	0.008291	0	0
ZAN	7455	broad.mit.edu	37	7	100348407	100348407	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:100348407G>A	uc003uwj.3	+	11	1574	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	ZAN_uc003uwk.3_Missense_Mutation_p.G470E|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	470	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCCTCCTGGGAAGTCCTGCG	0.622000														13			21		0	0	0.010504	0	0
DLG5	9231	broad.mit.edu	37	10	79570962	79570962	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:79570962G>A	uc001jzk.3	-	22	4423	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S	DLG5_uc001jzi.3_Silent_p.S206S|DLG5_uc001jzj.3_Silent_p.S866S|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1451					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGGAGAGTGGAGTGGGTAC	0.652000														54			19		0	0	0.010504	0	0
CCBE1	147372	broad.mit.edu	37	18	57136739	57136739	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:57136739C>T	uc002lib.3	-	3	436	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	122					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.R121L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TCCGGTGTCTCTCCCGGTCAT	0.527000														96			55		0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41172438	41172438	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:41172438C>T	uc003jmk.2	-	8	1390	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	C6_uc003jml.1_Missense_Mutation_p.E394K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	394	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGGCTTCTTCCTCGGTTAAA	0.423000														27			15		0	0	0.004990	0	0
RPL8	6132	broad.mit.edu	37	8	146017431	146017431	+	Silent	SNP	G	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:146017431G>C	uc003zeb.3	-	1	195	c.84C>G	c.(82-84)cgC>cgG	p.R28R	RPL8_uc003zec.3_Silent_p.R28R|RPL8_uc010mgc.3_Silent_p.R28R|RPL8_uc011lll.1_5'Flank	NM_033301	NP_150644	P62917	RL8_HUMAN	Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA.	28					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CGGCGCGCAGGCGCGCAGCGC	0.711000														9			21		0	0	0.010504	0	0
NCOR1	9611	broad.mit.edu	37	17	15973652	15973652	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:15973652C>T	uc002gpo.3	-	30	4609	c.4340G>A	c.(4339-4341)cGg>cAg	p.R1447Q	NCOR1_uc002gpn.3_Missense_Mutation_p.R1463Q|NCOR1_uc002gpp.1_Missense_Mutation_p.R1354Q|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_Missense_Mutation_p.R31Q|NCOR1_uc010coy.3_Missense_Mutation_p.R355Q|NCOR1_uc010vwc.2_Missense_Mutation_p.R258Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1447	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACGTGTGCCGGGAACGCAC	0.532000														64			38		0	0	0.006999	0	0
TTC21B	79809	broad.mit.edu	37	2	166786257	166786258	+	Splice_Site	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:166786257_166786258CC>TT	uc002udk.3	-	10	1221	c.1088_splice	c.e10-1	p.G363_splice	TTC21B_uc002udl.3_Splice_Site_p.G363_splice	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	363						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTGGATAAATCCTAAAATCAAA	0.386000														26			17		0	0	0.004672	0	0
IL27RA	9466	broad.mit.edu	37	19	14160061	14160061	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:14160061G>A	uc002mxx.3	+	9	1760	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	446	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CACCAGCTTCGAGGCCACCTC	0.642000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			16		0	0	0.004990	0	0
X97876	0	broad.mit.edu	37	9	66500836	66500836	+	RNA	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:66500836T>C	uc004aed.1	+	2		c.929T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		TGAAACCACCTGGTGCCCAGG	0.637000														17			3		0	0	0.004672	0	0
CILP2	148113	broad.mit.edu	37	19	19653722	19653722	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:19653722C>T	uc002nmw.4	+	5	1021	c.936C>T	c.(934-936)ggC>ggT	p.G312G	CILP2_uc002nmv.4_Silent_p.G306G	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	306	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GAGAGGCTGGCCAGAATGTGA	0.597000														88			45		0	0	0.003610	0	0
TET1	80312	broad.mit.edu	37	10	70441225	70441225	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:70441225C>T	uc001jok.4	+	8	5399	c.4894C>T	c.(4894-4896)Cca>Tca	p.P1632S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1632					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCAGTATGCTCCAGTAGCTTA	0.358000														23			16		0	0	0.008871	0	0
ABCB9	23457	broad.mit.edu	37	12	123444367	123444367	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:123444367G>A	uc001udm.4	-	1	726	c.416C>T	c.(415-417)aCc>aTc	p.T139I	ABCB9_uc021rfo.1_Missense_Mutation_p.T139I|ABCB9_uc021rfp.1_Missense_Mutation_p.T139I|ABCB9_uc001udo.4_Missense_Mutation_p.T139I|ABCB9_uc010taj.2_Missense_Mutation_p.T139I|ABCB9_uc001udq.3_5'UTR|ABCB9_uc021rfq.1_Missense_Mutation_p.T139I|ABCB9_uc001udr.3_Missense_Mutation_p.T139I	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	139					positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		TGGCCGCACGGTGGACAGCAG	0.716000														21			11		0	0	0.001368	0	0
DNAH2	146754	broad.mit.edu	37	17	7674702	7674702	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:7674702T>A	uc002giu.1	+	26	4431	c.4417T>A	c.(4417-4419)Ttt>Att	p.F1473I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1473	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGACCTTATTTGACCAGGT	0.527000														61			32		0	0	0.012213	0	0
TSHB	7252	broad.mit.edu	37	1	115576077	115576077	+	Missense_Mutation	SNP	G	A	A	rs121918669		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:115576077G>A	uc001efs.1	+	1	162	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	32					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	p.E32K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AATGCACATCGAAAGGAGAGA	0.423000														51			42		0	0	0.010771	0	0
STAB2	55576	broad.mit.edu	37	12	104015856	104015856	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:104015856G>A	uc001tjw.3	+	4	640	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	152				D -> A (in Ref. 5; BAD18723).	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACCTGTGCTGACGACAACTT	0.473000														37			17		0	0	0.008871	0	0
SLC17A3	10786	broad.mit.edu	37	6	25849654	25849654	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:25849654G>A	uc003nfk.4	-	10	1420	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	SLC17A3_uc003nfi.4_Missense_Mutation_p.S359L	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	359					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGCTATGCTCGAAAATCCTCT	0.443000														12			9		0	0	0.006214	0	0
UROC1	131669	broad.mit.edu	37	3	126226912	126226912	+	Silent	SNP	C	T	T	rs139167502	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:126226912C>T	uc010hsi.2	-	4	492	c.438G>A	c.(436-438)tcG>tcA	p.S146S	UROC1_uc003eiz.2_Silent_p.S146S	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	146					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGTCATCTTCGACAAGTAGA	0.587000														69			40		0	0	0.008740	0	0
ATG2A	23130	broad.mit.edu	37	11	64664943	64664943	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:64664943G>A	uc001obx.3	-	36	5206	c.5091C>T	c.(5089-5091)atC>atT	p.I1697I	ATG2A_uc001obw.3_Silent_p.I462I	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1697							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCCAGGCCGATGAGGAGGC	0.632000														4			9		0	0	0.006214	0	0
CCT6A	908	broad.mit.edu	37	7	56122096	56122097	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:56122096_56122097AG>TA	uc003trl.1	+	2	400_401	c.236_237AG>TA	c.(235-237)aag>aTA	p.K79I	PSPH_uc003trh.3_5'Flank|PSPH_uc003tri.3_5'Flank|PSPH_uc003trj.3_Intron|PSPH_uc003trk.1_5'Flank|CCT6A_uc003trm.1_Intron|CCT6A_uc011kcu.1_Missense_Mutation_p.K48I|SNORA22_uc022adt.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	79					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTAATAGCAAAGGTAGCAACAG	0.386000														150			77		0	0	0.004672	0	0
NDST4	64579	broad.mit.edu	37	4	115767138	115767138	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:115767138G>A	uc003ibu.3	-	9	2635	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	652	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGGTGTAGGGAAAAAGTCCA	0.358000														27			12		0	0	0.001855	0	0
ARHGAP6	395	broad.mit.edu	37	X	11160413	11160413	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:11160413C>T	uc004cup.1	-	11	3070	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Missense_Mutation_p.D530N|ARHGAP6_uc004cun.1_Missense_Mutation_p.D553N	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	733					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCCAGATATCGAAAGGCTCC	0.313000														14			59		0	0	0.003610	0	0
SNRPN	6638	broad.mit.edu	37	15	25223433	25223433	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:25223433C>T	uc021sgb.1	+	6	1704	c.662C>T	c.(661-663)cCg>cTg	p.P221L	SNRPN_uc001ywp.1_Missense_Mutation_p.P218L|SNRPN_uc001ywq.1_Missense_Mutation_p.P218L|SNRPN_uc001ywr.1_Missense_Mutation_p.P218L|SNRPN_uc001yws.1_Missense_Mutation_p.P218L|SNRPN_uc001ywt.1_Missense_Mutation_p.P218L|SNRPN_uc001ywy.1_Missense_Mutation_p.P218L|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P218L	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	218	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ATGCCGCCTCCGGGAATGAGA	0.567000									Prader-Willi syndrome					105			59		0	0	0.003610	0	0
SLC26A1	10861	broad.mit.edu	37	4	973225	973225	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:973225T>A	uc003gbx.3	-	2	807	c.644A>T	c.(643-645)gAa>gTa	p.E215V		NM_134425	NP_602297	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ttccagaagttcctgcgagtc	0.537000														14			10		0	0	0.008291	0	0
SCN5A	6331	broad.mit.edu	37	3	38622599	38622599	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:38622599C>T	uc021wvo.1	-	15	3103	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E	SCN5A_uc021wvk.1_Silent_p.E1017E|SCN5A_uc021wvl.1_Silent_p.E1017E|SCN5A_uc021wvm.1_Silent_p.E1017E|SCN5A_uc021wvn.1_Silent_p.E1017E|SCN5A_uc021wvp.1_Silent_p.E1017E|SCN5A_uc021wvq.1_Silent_p.E1017E|SCN5A_uc021wvr.1_Silent_p.E1017E|SCN5A_uc021wvs.1_Silent_p.E1017E|SCN5A_uc021wvt.1_Silent_p.E1017E|SCN5A_uc021wvu.1_Silent_p.E1017E|SCN5A_uc021wvv.1_Silent_p.E1017E|SCN5A_uc021wvj.1_Silent_p.E883E|SCN5A_uc021wvi.1_Silent_p.E883E|SCN5A_uc021wvw.1_Silent_p.E628E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1017					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGCACCTTCTCCGTCTCTG	0.697000														12			8		0	0	0.006214	0	0
TRIM58	25893	broad.mit.edu	37	1	248031359	248031359	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:248031359T>C	uc001ido.3	+	4	913	c.865T>C	c.(865-867)Ttc>Ctc	p.F289L	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	289	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTAAGGAAGTTCCAAGGTAG	0.512000														17			10		0	0	0.008291	0	0
TULP3	7289	broad.mit.edu	37	12	3018744	3018744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:3018744C>T	uc001qlj.2	+	1	172	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Nonsense_Mutation_p.Q31*|TULP3_uc010sei.1_5'UTR	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	31					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGGATTATCAGGTGAGCAG	0.403000														81			37		0	0	0.006230	0	0
DUSP22	56940	broad.mit.edu	37	6	311939	311939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:311939G>A	uc003msx.3	+	2	554	c.115G>A	c.(115-117)Gat>Aat	p.D39N	DUSP22_uc011dhn.1_Missense_Mutation_p.D39N|DUSP22_uc003msy.1_5'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	39					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTCTGTCCACGATAGTGCCAG	0.493000														64			8		0	0	0.003080	0	0
GYS1	2997	broad.mit.edu	37	19	49474231	49474231	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:49474231G>A	uc002plp.3	-	12	1840	c.1599C>T	c.(1597-1599)ggC>ggT	p.G533G	GYS1_uc010emm.3_Silent_p.G469G|GYS1_uc010xzz.2_Silent_p.G453G	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	533					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGCAGCCGAAGCCGGAGAGAT	0.592000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			28		0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179455117	179455117	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:179455117G>A	uc021vsy.1	-	252	53856	c.53631C>T	c.(53629-53631)ttC>ttT	p.F17877F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F11572F|TTN_uc021vta.1_Silent_p.F11505F|TTN_uc021vtb.1_Silent_p.F11380F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18804	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTATACGGAATCTGTACT	0.413000														55			27		0	0	0.008361	0	0
CRP	1401	broad.mit.edu	37	1	159683565	159683565	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:159683565C>T	uc001ftw.3	-	1	529	c.425G>A	c.(424-426)gGa>gAa	p.G142E	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	142	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CACAGTGTATCCCTTCTTCAG	0.552000														461			103		0	0	0.003610	0	0
LRFN1	57622	broad.mit.edu	37	19	39804764	39804764	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:39804764C>T	uc002okw.2	-	0	1213	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	405						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		p.R404H(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAGCCGGGCTCGGTGAGAGGC	0.706000														11			8		0	0	0.003080	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030529	129030529	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:129030529G>A	uc003kvb.1	+	18	2917	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	973	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAGTGCAATGAGCAACCATG	0.383000														37			31		0	0	0.004289	0	0
UPB1	51733	broad.mit.edu	37	22	24919669	24919670	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:24919669_24919670CC>TT	uc003aaf.3	+	8	2294_2295	c.999_1000CC>TT	c.(997-1002)agccgg>agTTgg	p.R334W	UPB1_uc003aae.3_Missense_Mutation_p.R266W|UPB1_uc021wnh.1_Non-coding_Transcript	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	334	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TGTCCCGTAGCCGGGATGGACT	0.545000														58			50		0	0	0.004672	0	0
PION	54103	broad.mit.edu	37	7	76942807	76942807	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr7:76942807G>A	uc003ugf.3	-	27	2348	c.2269C>T	c.(2269-2271)Ccg>Tcg	p.P757S	PION_uc011kgo.2_Missense_Mutation_p.P78S|PION_uc003ugd.3_Missense_Mutation_p.P151S	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	757					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	p.P757P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTATTACCGGAGGAAGCCGC	0.348000														12			9		0	0	0.004482	0	0
RXFP3	51289	broad.mit.edu	37	5	33937921	33937921	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:33937921T>A	uc003jic.2	+	0	1431	c.1076T>A	c.(1075-1077)tTc>tAc	p.F359Y		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	359						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCGGTGCCCTTCAGCCAGGAG	0.577000														54			35		0	0	0.002836	0	0
GORAB	92344	broad.mit.edu	37	1	170521292	170521292	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:170521292T>C	uc001gha.2	+	4	901	c.874T>C	c.(874-876)Ttg>Ctg	p.L292L	GORAB_uc009wvx.2_Silent_p.L112L|GORAB_uc001ghb.2_Silent_p.L112L|GORAB_uc001ghc.2_Silent_p.L112L|GORAB_uc001ghd.2_Silent_p.L85L	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	292	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCAAGAAGTTGGAGGAGTT	0.443000														40			62		0	0	0.003610	0	0
PDXDC1	23042	broad.mit.edu	37	16	15092243	15092243	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:15092243C>T	uc002dda.4	+	2	366	c.142C>T	c.(142-144)Cca>Tca	p.P48S	PDXDC1_uc010uzl.2_Missense_Mutation_p.P33S|PDXDC1_uc010uzm.2_Missense_Mutation_p.P33S|PDXDC1_uc010bvc.1_5'UTR|PDXDC1_uc002dcz.3_Missense_Mutation_p.P48S|PDXDC1_uc002ddb.4_Missense_Mutation_p.P48S|PDXDC1_uc010uzn.2_Missense_Mutation_p.P47S|PDXDC1_uc002ddc.3_Missense_Mutation_p.P48S	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	48					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGGAGATATTCCAGGCCCACT	0.398000														89			13		0	0	0.004990	0	0
PTH1R	5745	broad.mit.edu	37	3	46939393	46939393	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:46939393G>A	uc003cqm.3	+	5	565	c.362G>A	c.(361-363)gGg>gAg	p.G121E	PTH1R_uc021wxg.1_Missense_Mutation_p.G121E	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	121						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGGCCGCTGGGGGCACCAGGT	0.607000														14			13		0	0	0.001368	0	0
RASA2	5922	broad.mit.edu	37	3	141291471	141291471	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:141291471G>A	uc010huq.1	+	11	1190	c.1190G>A	c.(1189-1191)aGa>aAa	p.R397K	RASA2_uc003etz.1_Missense_Mutation_p.R397K|RASA2_uc003eua.1_Missense_Mutation_p.R397K|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	397	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACAATTTTTAGAGGAAATTCC	0.348000														29			15		0	0	0.004990	0	0
XDH	7498	broad.mit.edu	37	2	31591431	31591431	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:31591431T>C	uc002rnv.1	-	18	2155	c.2076A>G	c.(2074-2076)gaA>gaG	p.E692E		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	692					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGCTGGTAGTTCTTCATAGG	0.507000														36			17		0	0	0.007413	0	0
WDR49	151790	broad.mit.edu	37	3	167246950	167246950	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:167246950C>T	uc003fev.1	-	9	1544	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	WDR49_uc003feu.1_Missense_Mutation_p.E239K|WDR49_uc011bpd.1_Missense_Mutation_p.E478K|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	414										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCCAAAAATTCAGCCAGAAGT	0.383000														28			16		0	0	0.004007	0	0
GPD1L	23171	broad.mit.edu	37	3	32200531	32200531	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:32200531C>T	uc003cew.3	+	5	983	c.782C>T	c.(781-783)gCc>gTc	p.A261V		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	261					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	NAD binding|glycerol-3-phosphate dehydrogenase|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						TGCGGGGTGGCCGACCTGATC	0.622000														40			23		0	0	0.007291	0	0
CCNT2	905	broad.mit.edu	37	2	135711938	135711938	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:135711938C>T	uc002tuc.2	+	8	1946	c.1913C>T	c.(1912-1914)tCc>tTc	p.S638F	CCNT2_uc010zbf.2_Missense_Mutation_p.S463F|CCNT2_uc002tub.2_Missense_Mutation_p.S638F|CCNT2_uc002tud.2_Missense_Mutation_p.S301F	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	638	Poly-Ser.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGCAAAAGTTCCAAAAGTTCA	0.458000														66			36		0	0	0.006230	0	0
CTNND2	1501	broad.mit.edu	37	5	11199584	11199584	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:11199584G>T	uc003jfa.1	-	10	2096	c.1951C>A	c.(1951-1953)Ctg>Atg	p.L651M	CTNND2_uc010itt.2_Missense_Mutation_p.L560M|CTNND2_uc011cmy.1_Missense_Mutation_p.L314M|CTNND2_uc011cmz.1_Missense_Mutation_p.L218M|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L218M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	651					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.D650N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGGATCTCCAGGTCAGTCGTC	0.423000														87			43		2.0833e-19	2.28193e-19	0.003610	1	0
ABCA11P	79963	broad.mit.edu	37	4	436628	436628	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:436628A>T	uc003gaf.4	-	2	1950	c.1724T>A	c.(1723-1725)aTc>aAc	p.I575N	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.I543N|ABCA11P_uc010ibe.3_Missense_Mutation_p.I531N	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TACATAAAGGATTGCGGACTG	0.403000														117			4		0	0	0.009096	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000														44			9		0	0	0.004482	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776364	31776365	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:31776364_31776365GG>AA	uc001zfq.3	-	10	2006_2007	c.1913_1914CC>TT	c.(1912-1914)gcc>gTT	p.A638V	OTUD7A_uc001zfr.3_Missense_Mutation_p.A645V	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	638						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCAGCAGGCCGGCGAAGATGAA	0.668000														20			4		0	0	0.004672	0	0
C8A	731	broad.mit.edu	37	1	57378088	57378088	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:57378088C>T	uc001cyo.2	+	9	1525	c.1393C>T	c.(1393-1395)Cac>Tac	p.H465Y		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	465	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCAGCCTATCCACGAGGTGCT	0.617000														40			21		0	0	0.002299	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129668	150129669	+	Silent	DNP	CC	TT	TT			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:150129668_150129669CC>TT	uc001ett.3	+	4	791_792	c.513_514CC>TT	c.(511-516)caccta>caTTta	p.171_172HL>HL	PLEKHO1_uc001ets.3_Intron|PLEKHO1_uc001etu.3_5'UTR|PLEKHO1_uc021oyc.1_5'Flank	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	171	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGGGGACACCTAATGGCTGT	0.525000														36			66		0	0	0.004672	0	0
VPS28	51160	broad.mit.edu	37	8	145649393	145649393	+	Silent	SNP	G	A	A	rs149066828	byFrequency	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:145649393G>A	uc003zct.1	-	8	669	c.579C>T	c.(577-579)ccC>ccT	p.P193P	VPS28_uc003zcs.1_Intron	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	0	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGGGCACTGCGGGGCTCTGCC	0.701000														18			63		0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	73046126	73046126	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:73046126C>T	uc001sxa.3	+	15	2595	c.2565C>T	c.(2563-2565)atC>atT	p.I855I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	855					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.D854G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTAGAGACATCGTATACTGTA	0.353000														40			20		0	0	0.008871	0	0
PARP9	83666	broad.mit.edu	37	3	122274910	122274910	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:122274910G>A	uc010hri.3	-	3	358	c.213C>T	c.(211-213)ttC>ttT	p.F71F	PARP9_uc003eff.4_Silent_p.F36F|PARP9_uc011bjs.2_Silent_p.F36F|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Silent_p.F36F|PARP9_uc003efh.3_Silent_p.F71F|PARP9_uc003efj.2_Silent_p.F36F	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	71					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			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)		TTAAAATTTTGAAGTCATTGT	0.363000														24			10		0	0	0.002450	0	0
WDR11	55717	broad.mit.edu	37	10	122665387	122665388	+	Splice_Site	DNP	GG	AA	AA			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:122665387_122665388GG>AA	uc021pzt.1	+	27	3538	c.3292_splice	c.e27-1	p.V1098_splice	WDR11_uc010qte.2_Splice_Site_p.V700_splice|WDR11_uc001lfd.1_Splice_Site_p.V616_splice|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1098						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTCTTTCTCAGGTCCGTTTGAA	0.406000														53			25		0	0	0.004672	0	0
FCN1	2219	broad.mit.edu	37	9	137801781	137801781	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:137801781C>T	uc004cfi.3	-	8	933	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	282	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.A281T(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCATGACAGTCGGCGTACCAC	0.493000														32			55		0	0	0.003610	0	0
MAGIX	79917	broad.mit.edu	37	X	49021314	49021314	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:49021314T>C	uc010nin.1	+	3	440	c.393T>C	c.(391-393)ggT>ggC	p.G131G	MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Silent_p.G72G|MAGIX_uc004dmw.2_Silent_p.G64G	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	131	PDZ.																TGGTTCGCGGTTACGCAGGCT	0.617000														12			100		0	0	0.003610	0	0
ASTL	431705	broad.mit.edu	37	2	96789943	96789943	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:96789943C>T	uc010yui.2	-	8	942	c.942G>A	c.(940-942)gaG>gaA	p.E314E		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	314					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCGACAGTGCCTCCAAAAGCC	0.657000														20			12		0	0	0.001368	0	0
SORCS1	114815	broad.mit.edu	37	10	108434807	108434807	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:108434807G>A	uc001kyl.3	-	14	2122	c.1940_splice	c.e14+1	p.T647_splice	SORCS1_uc021pxw.1_Splice_Site_p.T647_splice|SORCS1_uc009xxs.3_Splice_Site_p.T647_splice|SORCS1_uc001kym.3_Splice_Site_p.T647_splice|SORCS1_uc001kyn.2_Splice_Site_p.T647_splice|SORCS1_uc001kyo.3_Splice_Site_p.T647_splice	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	647						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAACTTACGTCATGATGAG	0.403000														59			27		0	0	0.008361	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	G	G	rs115565146	by1000genomes	TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:32725596C>G	uc003obz.2	-	3	794	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000														19			3		0	0	0.001168	0	0
CRIM1	51232	broad.mit.edu	37	2	36668611	36668611	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:36668611G>A	uc002rpd.3	+	2	782	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	239					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGGAAGCCGGGAGAGTGCTGT	0.572000														59			33		0	0	0.006230	0	0
NBAS	51594	broad.mit.edu	37	2	15614372	15614372	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:15614372G>A	uc002rcc.1	-	14	1444	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	473										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCAGAATCAGAATCCTCTTC	0.418000														29			17		0	0	0.004007	0	0
FAT3	120114	broad.mit.edu	37	11	92086872	92086872	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:92086872G>A	uc001pdj.4	+	0	1611	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	532	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCACAACTGAAGAACTGGA	0.398000										TCGA Ovarian(4;0.039)				144			369		0	0	0.003610	0	0
OR4K2	390431	broad.mit.edu	37	14	20344738	20344738	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:20344738C>T	uc001vwh.1	+	0	312	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTCTTTCTCCACCTTTTCA	0.428000														49			26		0	0	0.007291	0	0
OR4F15	390649	broad.mit.edu	37	15	102359075	102359075	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:102359075C>T	uc010uts.2	+	0	686	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGGAAACATTCTTCTGGTGGT	0.458000														72			48		0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117709094	117709094	+	Silent	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:117709094T>C	uc003pxp.1	-	12	2062	c.1863A>G	c.(1861-1863)gaA>gaG	p.E621E	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	621	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TATGAGTGACTTCAGGAGGGT	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									17			44		0	0	0.003610	0	0
DAPP1	27071	broad.mit.edu	37	4	100756871	100756871	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:100756871G>A	uc003hvf.4	+	1	283	c.193G>A	c.(193-195)Gag>Aag	p.E65K	DAPP1_uc011cek.2_Missense_Mutation_p.E65K|DAPP1_uc010ilh.3_Missense_Mutation_p.E65K	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	65	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GGACAGCAATGAGACCACCGG	0.527000														37			31		0	0	0.008361	0	0
SPTA1	6708	broad.mit.edu	37	1	158639531	158639531	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:158639531C>T	uc001fst.1	-	12	1844	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	549					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTCTGAATCATAATGGTCA	0.413000														132			225		0	0	0.003610	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594957	41594957	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:41594957G>A	uc002opt.3	+	1	313	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	102					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAGCGGGCGAGGCGAGCAGGC	0.642000														25			12		0	0	0.004007	0	0
CABIN1	23523	broad.mit.edu	37	22	24456409	24456409	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:24456409C>T	uc002zzi.1	+	11	1549	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	CABIN1_uc021wnc.1_Silent_p.F424F|CABIN1_uc002zzj.1_Silent_p.F424F|CABIN1_uc002zzl.2_Silent_p.F474F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	474					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.F474L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCATGAGTTCCTGCTGGAGA	0.537000														37			16		0	0	0.007413	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39357541	39357541	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:39357541G>A	uc003awn.2	+	2	494	c.324G>A	c.(322-324)ggG>ggA	p.G108G	APOBEC3B_uc011aob.1_Silent_p.G90G|APOBEC3B_uc011aoc.1_Silent_p.G108G	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	291					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCTGTGCCGGGGAAGTGCGTG	0.562000														45			49		0	0	0.003610	0	0
MYO3A	53904	broad.mit.edu	37	10	26432494	26432494	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:26432494A>G	uc001isn.2	+	20	2740	c.2380A>G	c.(2380-2382)Agt>Ggt	p.S794G	MYO3A_uc009xko.1_Missense_Mutation_p.S794G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	794	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGATGAAGAAAGTAGATTTCC	0.403000														27			22		0	0	0.002780	0	0
DLG5	9231	broad.mit.edu	37	10	79590511	79590511	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:79590511G>A	uc001jzk.3	-	9	1939	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	DLG5_uc001jzj.3_Silent_p.F378F|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.F227F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	623	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.F623F(2)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTCCCTCTCGAACTCTACAA	0.557000														29			17		0	0	0.006122	0	0
HTR4	3360	broad.mit.edu	37	5	147889434	147889434	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:147889434C>T	uc021yfj.1	-	4	708	c.661G>A	c.(661-663)Gag>Aag	p.E221K	HTR4_uc021yfg.1_Missense_Mutation_p.E221K|HTR4_uc021yfh.1_Missense_Mutation_p.E221K|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.E221K|HTR4_uc011dby.1_Missense_Mutation_p.E221K|HTR4_uc003lpn.3_Missense_Mutation_p.E221K|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.E221K	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	221					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGGGCATGCTCCTTAGCTGTG	0.557000														28			12		0	0	0.001855	0	0
SALL3	27164	broad.mit.edu	37	18	76754424	76754424	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr18:76754424G>A	uc002lmt.3	+	1	2433	c.2433G>A	c.(2431-2433)ctG>ctA	p.L811L	SALL3_uc010dra.3_Silent_p.L418L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCTGAGCTGAAGGACGCGG	0.662000														13			7		0	0	0.004482	0	0
NDUFS4	4724	broad.mit.edu	37	5	52978999	52978999	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:52978999C>T	uc003jpe.2	+	4	504	c.476C>T	c.(475-477)tCt>tTt	p.S159F		NM_002495	NP_002486	O43181	NDUS4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (NDUFS4), nuclear gene encoding mitochondrial protein, mRNA.	159					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	AAGTCCAAGTCTTATGGTGCA	0.393000														82			47		0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51174325	51174325	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr16:51174325C>T	uc021tif.1	-	1	1839	c.1517G>A	c.(1516-1518)aGa>aAa	p.R506K	SALL1_uc021tid.1_Missense_Mutation_p.R506K|SALL1_uc021tie.1_Missense_Mutation_p.R603K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	603					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCTAGGTTTCTTGTGGCTGA	0.612000														24			18		0	0	0.008871	0	0
CLIC1	1192	broad.mit.edu	37	6	31700000	31700000	+	Silent	SNP	T	A	A	rs141018232		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr6:31700000T>A	uc003nwr.3	-	4	822	c.558A>T	c.(556-558)atA>atT	p.I186I	DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank	NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	186	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						ACACCTGTACTATGTGTAACT	0.512000														199			265		0	0	0.003610	0	0
TPPP2	122664	broad.mit.edu	37	14	21499185	21499185	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:21499185G>A	uc001vzh.3	+	2	376	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	NDRG2_uc010tll.2_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.	63						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGAACGCCCGAACCATCACG	0.483000														37			21		0	0	0.003954	0	0
EPHA10	284656	broad.mit.edu	37	1	38184483	38184483	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:38184483G>A	uc009vvi.3	-	15	2848	c.2762C>T	c.(2761-2763)cCc>cTc	p.P921L	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	921						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TAGTGGGGTGGGAGGCCTGCG	0.667000														15			6		0	0	0.003080	0	0
AKT1	207	broad.mit.edu	37	14	105241449	105241449	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:105241449G>A	uc001ypk.3	-	5	1085	c.531C>T	c.(529-531)gcC>gcT	p.A177A	AKT1_uc001ypl.3_Silent_p.A177A|AKT1_uc010axa.3_Silent_p.A177A|AKT1_uc001ypm.3_Silent_p.A177A|AKT1_uc001ypn.3_Silent_p.A177A|AKT1_uc010tyk.2_Silent_p.A115A	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	177	Protein kinase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GGATCTTCATGGCGTAGTAGC	0.612000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									66			25		0	0	0.003954	0	0
DUSP27	92235	broad.mit.edu	37	1	167064135	167064135	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:167064135G>A	uc001geb.1	+	0	65	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	17					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCAAGCGAGGAGGACGAAGC	0.572000														30			11		0	0	0.001368	0	0
GLB1L	79411	broad.mit.edu	37	2	220103065	220103065	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:220103065G>A	uc002vkm.3	-	13	1487	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	GLB1L_uc002vkk.3_Silent_p.Y173Y|GLB1L_uc010zkx.2_Silent_p.Y326Y|GLB1L_uc002vkn.3_Silent_p.Y416Y	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	416					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATAGGTTCGGTACAACATGA	0.448000														76			34		0	0	0.003271	0	0
ACAN	176	broad.mit.edu	37	15	89414652	89414652	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr15:89414652G>A	uc010upo.1	+	13	7360	c.6986G>A	c.(6985-6987)gGc>gAc	p.G2329D	ACAN_uc010upp.1_Missense_Mutation_p.G2291D|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2329					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTACCAGGGCCACTGTTAC	0.642000														30			19		0	0	0.010504	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:187698678G>A	uc002upu.1	-	5	863	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	275					apoptosis		zinc ion binding	p.R275C(4)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000														26			16		0	0	0.004990	0	0
DGKD	8527	broad.mit.edu	37	2	234357995	234357995	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:234357995C>T	uc002vui.1	+	14	1873	c.1861C>T	c.(1861-1863)Cgt>Tgt	p.R621C	DGKD_uc002vuj.1_Missense_Mutation_p.R577C|DGKD_uc010fyh.1_Missense_Mutation_p.R488C|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	621					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAAAGCAATTCGTCAGATCAT	0.582000											OREG0015296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			14		0	0	0.001855	0	0
AKNA	80709	broad.mit.edu	37	9	117139527	117139527	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr9:117139527G>A	uc004biq.3	-	1	695	c.560C>T	c.(559-561)tCc>tTc	p.S187F	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.S106F|AKNA_uc004bir.3_Missense_Mutation_p.S187F|AKNA_uc004bis.3_Missense_Mutation_p.S187F|AKNA_uc010mve.2_Missense_Mutation_p.S68F|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.S187F|AKNA_uc004biw.1_Missense_Mutation_p.S187F	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTTGACCTCGGAATGTTCAGA	0.592000														23			26		0	0	0.005443	0	0
GRAMD3	65983	broad.mit.edu	37	5	125820190	125820190	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:125820190G>A	uc011cwt.2	+	9	1225	c.989G>A	c.(988-990)gGa>gAa	p.G330E	GRAMD3_uc003ktu.3_Missense_Mutation_p.G315E|GRAMD3_uc011cwv.2_Missense_Mutation_p.G323E|GRAMD3_uc011cww.2_Missense_Mutation_p.G211E|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.G206E|GRAMD3_uc011cwz.2_Missense_Mutation_p.G299E|GRAMD3_uc011cwu.1_Missense_Mutation_p.G299E	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	315										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GTACCTGAAGGAAAAGCCAAG	0.453000														38			22		0	0	0.002780	0	0
TRPC6	7225	broad.mit.edu	37	11	101340233	101340233	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:101340233C>T	uc001pgk.4	-	10	2835	c.2410_splice	c.e10-1	p.I804_splice	TRPC6_uc009ywy.3_Splice_Site_p.I688_splice|TRPC6_uc009ywz.1_Splice_Site_p.I749_splice	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	804					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		cttcatttatcttttaaagat	0.274000														2			15		0	0	0.002450	0	0
HTR3C	170572	broad.mit.edu	37	3	183774074	183774074	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:183774074C>T	uc003fmk.3	+	4	423	c.389_splice	c.e4+1	p.S130_splice		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	130						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATCGTGGAATCGTGCGTATGC	0.502000														48			25		0	0	0.006320	0	0
OTUD5	55593	broad.mit.edu	37	X	48780999	48780999	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:48780999C>T	uc004dlu.3	-	7	1566	c.1505G>A	c.(1504-1506)gGg>gAg	p.G502E	OTUD5_uc004dlt.4_Missense_Mutation_p.G497E|OTUD5_uc004dlv.3_Missense_Mutation_p.G497E|OTUD5_uc011mmp.2_Missense_Mutation_p.G280E	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	502					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCGGTCGGCCCCTGCCGAGAA	0.612000														2			11		0	0	0.008291	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600423	3600423	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:3600423G>A	uc002lyg.2	-	1	597	c.210C>T	c.(208-210)ctC>ctT	p.L70L	TBXA2R_uc021umv.1_Silent_p.L70L	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	70					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGGTGAGGACGAGGCCGCAGA	0.711000														22			8		0	0	0.004482	0	0
RDH16	8608	broad.mit.edu	37	12	57348713	57348713	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:57348713C>T	uc001smi.4	-	1	721	c.549G>A	c.(547-549)gtG>gtA	p.V183V	RDH16_uc009zpa.3_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	183					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAAGGCTTCCACGCCATACT	0.582000														25			15		0	0	0.004007	0	0
FDX1L	112812	broad.mit.edu	37	19	10426573	10426573	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:10426573C>T	uc002mny.1	-	0	119	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	34					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			ACCCCCTCCCCCGACCCGGAA	0.701000														19			15		0	0	0.003163	0	0
AFMID	125061	broad.mit.edu	37	17	76202102	76202102	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76202102C>T	uc002juz.3	+	9	925	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	AFMID_uc002jva.3_Silent_p.L286L|AFMID_uc002jvb.3_Silent_p.I93I	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	286						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGTTGAGAATCTGACCCAGAA	0.552000														34			12		0	0	0.001855	0	0
SLC52A3	113278	broad.mit.edu	37	20	741707	741707	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr20:741707G>A	uc002wed.4	-	4	1712	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	SLC52A3_uc002wee.2_3'UTR	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	458					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GTCCGCGGACGAGAAGAGCCG	0.687000														6			4		0	0	0.000602	0	0
TLR1	7096	broad.mit.edu	37	4	38798375	38798375	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:38798375G>A	uc003gtl.3	-	3	2352	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	TLR1_uc021xnn.1_Missense_Mutation_p.S693F	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	693	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AACAAAGATGGACTTGTAACT	0.398000														69			38		0	0	0.009718	0	0
RGPD4	285190	broad.mit.edu	37	2	108487290	108487290	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr2:108487290G>A	uc010ywk.2	+	19	2912	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	RGPD4_uc002tdu.3_Missense_Mutation_p.D131N|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	944					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTTGAAAATGATACTGGCTT	0.413000														138			79		0	0	0.003610	0	0
MICAL3	57553	broad.mit.edu	37	22	18382276	18382276	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:18382276T>G	uc002zng.4	-	6	1239	c.886A>C	c.(886-888)Aca>Cca	p.T296P	MICAL3_uc011agl.2_Missense_Mutation_p.T296P|MICAL3_uc002znh.2_Missense_Mutation_p.T296P|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Missense_Mutation_p.T296P|MICAL3_uc002znl.1_Intron|MICAL3_uc010grf.3_Missense_Mutation_p.T296P|MICAL3_uc011agm.1_Missense_Mutation_p.T296P	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	296						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAATAGTGTGTGTCATCTTTG	0.433000														12			6		0	0	0.001168	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119242	18119242	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr19:18119242C>T	uc002nhv.3	+	0	266	c.123C>T	c.(121-123)gcC>gcT	p.A41A	ARRDC2_uc002nhu.3_Intron	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	41										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGTCAAGCGCCGCGCGTGTGG	0.751000														9			4		0	0	0.009096	0	0
SLC5A8	160728	broad.mit.edu	37	12	101551071	101551071	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:101551071C>T	uc001thz.4	-	14	2209	c.1819G>A	c.(1819-1821)Ggg>Agg	p.G607R		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	607					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACGAGTCCCATTGCTCTTG	0.368000														23			14		0	0	0.004990	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813480	106813480	+	Silent	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:106813480A>G	uc003ymd.3	+	7	1193	c.1170A>G	c.(1168-1170)aaA>aaG	p.K390K	ZFPM2_uc011lhs.2_Silent_p.K121K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	390					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTAGCGGCAAACTTCCCAGAG	0.517000														12			68		0	0	0.003610	0	0
OR8B4	283162	broad.mit.edu	37	11	124293956	124293956	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:124293956C>T	uc010sak.2	-	0	812	c.812G>A	c.(811-813)aGa>aAa	p.R271K		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGGCAAATCTGCCATGGTT	0.453000														5			35		0	0	0.003755	0	0
NRAP	4892	broad.mit.edu	37	10	115411667	115411667	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:115411667C>T	uc001lal.3	-	7	735	c.571_splice	c.e7-1	p.V191_splice	NRAP_uc001laj.3_Splice_Site_p.V191_splice|NRAP_uc001lak.3_Splice_Site_p.V191_splice	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	191						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TATACTCCACCTGATGAGAAG	0.552000														14			11		0	0	0.001855	0	0
EFTUD2	9343	broad.mit.edu	37	17	42929142	42929142	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:42929142G>A	uc002ihn.2	-	26	3020	c.2759C>T	c.(2758-2760)cCc>cTc	p.P920L	EFTUD2_uc010wje.1_Missense_Mutation_p.P885L|EFTUD2_uc010wjf.1_Missense_Mutation_p.P910L	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	920						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGGCTCCAAGGGGCGGATGAC	0.557000														21			6		0	0	0.004482	0	0
TRIML1	339976	broad.mit.edu	37	4	189068196	189068196	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr4:189068196G>A	uc003izm.1	+	5	1192	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	TRIML1_uc003izn.1_Silent_p.K83K	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	359	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCATCTGCAAGGACTCTGTGA	0.532000														48			25		0	0	0.003330	0	0
C10orf12	26148	broad.mit.edu	37	10	98742449	98742449	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:98742449C>T	uc001kmv.3	+	0	1409	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	C10orf12_uc009xvg.2_Silent_p.D744D	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	434										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TAAATGTCGACCCACTCTTGA	0.512000														137			79		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774388	140774388	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr5:140774388G>A	uc003lkd.2	+	0	2906	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E670K|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	672	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E670K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCCCCGAAGTCCTGAC	0.627000														21			15		0	0	0.003163	0	0
TCRA	0	broad.mit.edu	37	14	22363194	22363194	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr14:22363194T>C	uc021rpj.1	+	1	496	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		GGCTGAGTACTTCTGTGCTGT	0.483000														29			25		0	0	0.009535	0	0
MYOM3	127294	broad.mit.edu	37	1	24402693	24402693	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr1:24402693T>C	uc001bin.4	-	20	2820	c.2657A>G	c.(2656-2658)cAa>cGa	p.Q886R	MYOM3_uc001bim.4_Missense_Mutation_p.Q543R|MYOM3_uc001bio.3_Missense_Mutation_p.Q886R	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	886	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATGGACGGTTGCCCCAGACC	0.627000														58			28		0	0	0.002836	0	0
CACNA1D	776	broad.mit.edu	37	3	53787613	53787613	+	Silent	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:53787613C>T	uc003dgv.4	+	28	3853	c.3690C>T	c.(3688-3690)tcC>tcT	p.S1230S	CACNA1D_uc003dgu.4_Silent_p.S1250S|CACNA1D_uc003dgy.4_Silent_p.S1230S|CACNA1D_uc003dgw.4_Silent_p.S897S|CACNA1D_uc003dgx.1_Silent_p.S378S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1230					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACGAGCAGTCCAAGATGTTCA	0.517000														41			23		0	0	0.002780	0	0
ZNF488	118738	broad.mit.edu	37	10	48370805	48370805	+	Silent	SNP	G	A	A	rs145714764		TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:48370805G>A	uc001jex.3	+	1	435	c.273G>A	c.(271-273)ccG>ccA	p.P91P	ZNF488_uc021ppx.1_Silent_p.P91P	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CGCTGCCCCCGAAGACACGTG	0.687000														8			11		0	0	0.010729	0	0
MPST	4357	broad.mit.edu	37	22	37420687	37420687	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr22:37420687C>T	uc011amu.2	+	1	667	c.491C>T	c.(490-492)tCc>tTc	p.S164F	MPST_uc003aqi.1_Missense_Mutation_p.S144F|MPST_uc003aqm.3_Missense_Mutation_p.S144F|MPST_uc003aql.3_Missense_Mutation_p.S144F|MPST_uc003aqj.3_Missense_Mutation_p.S144F	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144					cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CCGCTCAGCTCCGGCAAGAGC	0.672000														20			5		0	0	0.001168	0	0
CANT1	124583	broad.mit.edu	37	17	76993529	76993529	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:76993529A>G	uc002jwj.3	-	1	671	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CANT1_uc002jwn.3_Missense_Mutation_p.L59P|CANT1_uc002jwk.3_Missense_Mutation_p.L59P|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	59					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GTGGGAGCAGAGCAGCCAGAG	0.687000			T	ETV4	prostate									15			18		0	0	0.006122	0	0
ADAM28	10863	broad.mit.edu	37	8	24170961	24170961	+	Silent	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr8:24170961G>A	uc003xdy.3	+	5	527	c.444G>A	c.(442-444)cgG>cgA	p.R148R	ADAM28_uc003xdx.3_Silent_p.R148R|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	148					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCATACATCGGGATGGACAGG	0.448000														8			39		0	0	0.004289	0	0
ECE2	9718	broad.mit.edu	37	3	184005631	184005631	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:184005631G>A	uc003fni.4	+	10	1662	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	ECE2_uc011brh.1_Missense_Mutation_p.V395M|ECE2_uc003fnl.4_Missense_Mutation_p.V470M|ECE2_uc003fnm.4_Missense_Mutation_p.V424M|ECE2_uc003fnk.4_Missense_Mutation_p.V395M|ECE2_uc011bri.1_Missense_Mutation_p.V457M|ECE2_uc010hxv.3_Missense_Mutation_p.V186M	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	542	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.I542I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAGTCCTGTGTGCCGAGGTG	0.572000														39			21		0	0	0.010504	0	0
TEX14	56155	broad.mit.edu	37	17	56665017	56665017	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:56665017C>T	uc010dcz.2	-	16	2849	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	TEX14_uc002iwr.2_Missense_Mutation_p.E905K|TEX14_uc002iws.2_Missense_Mutation_p.E905K|TEX14_uc010dda.2_Missense_Mutation_p.E685K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	911						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAACAGGTTCCACACTCATC	0.413000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			19		0	0	0.012319	0	0
ZNF148	7707	broad.mit.edu	37	3	124997999	124998000	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr3:124997999_124998000delAT	uc003ehx.4	-	5	1037_1038	c.551_552delAT	c.(550-552)tatfs	p.Y184fs	SLC12A8_uc003ehw.4_Frame_Shift_Del_p.I8fs|ZNF148_uc003ehz.4_Frame_Shift_Del_p.Y184fs|ZNF148_uc010hsa.3_Frame_Shift_Del_p.Y184fs|ZNF148_uc003eia.4_Frame_Shift_Del_p.Y184fs|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	184					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTGTAAGTGATAGTTCGTTCT	0.356													---	99	---	---	45	---					
C10orf54	64115	broad.mit.edu	37	10	73521670	73521672	+	In_Frame_Del	DEL	CAT	-	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr10:73521670_73521672delCAT	uc001jsd.3	-	1	335_337	c.194_196delATG	c.(193-198)gatgtg>gtg	p.D65del	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_5'UTR	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	65	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGAAGGTCACATCGTGCCCTTT	0.626													---	29	---	---	30	---					
CBL	867	broad.mit.edu	37	11	119148871	119148874	+	Splice_Site	DEL	CAAA	-	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr11:119148871_119148874delCAAA	uc001pwe.3	+	8	1234	c.1096_splice	c.e8-2	p.E366_splice		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	366	Asp/Glu-rich (acidic).|Linker.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTTTTTTAATCAAAGGAACAATAT	0.289			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	4	---	---	19	---					
ARID2	196528	broad.mit.edu	37	12	46246254	46246254	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:46246254delG	uc001ros.1	+	14	4348	c.4348delG	c.(4348-4350)ggafs	p.G1450fs	ARID2_uc001ror.3_Frame_Shift_Del_p.G1450fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.G906fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.G1077fs|ARID2_uc001rou.1_Frame_Shift_Del_p.G784fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1450					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTGCTTAATGGACCTCTAGC	0.428			"""N, S, F"""		hepatocellular carcinoma								---	68	---	---	37	---					
KRT5	3852	broad.mit.edu	37	12	52908747	52908749	+	In_Frame_Del	DEL	GGA	-	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr12:52908747_52908749delGGA	uc001san.3	-	8	1913_1915	c.1750_1752delTCC	c.(1750-1752)tccdel	p.S584del		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	584	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTCTTCCGGGAGGAGGAGGTG	0.591													---	65	---	---	25	---					
EVPL	2125	broad.mit.edu	37	17	74004880	74004895	+	Frame_Shift_Del	DEL	TCCAGCTTGACCACTT	-	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chr17:74004880_74004895delTCCAGCTTGACCACTT	uc010wss.1	-	21	4685_4700	c.4457_4472delAAGTGGTCAAGCTGGA	c.(4456-4473)gaagtggtcaagctggagfs	p.E1486fs	EVPL_uc002jqi.2_Frame_Shift_Del_p.E1464fs|EVPL_uc010wst.1_Frame_Shift_Del_p.E934fs	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1464	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGGTCCTTCTCCAGCTTGACCACTTCCTCCATGAT	0.611													---	163	---	---	28	---					
FAM58A	92002	broad.mit.edu	37	X	152858094	152858094	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1IC-06A-11D-A197-08	TCGA-DA-A1IC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6920fd0a-82bb-43a4-bc78-c29c42961148	759ea550-cc56-4f70-bd66-dceaffbd4b0d	g.chrX:152858094delT	uc011myr.2	-	4	626	c.515delA	c.(514-516)gacfs	p.D172fs	FAM58A_uc011mys.2_Frame_Shift_Del_p.D172fs	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	176					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTAGCTGTCCCGCAGCAG	0.677													---	7	---	---	17	---					
