Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRK7	131890	broad.mit.edu	37	3	141526599	141526599	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:141526599G>A	ENST00000264952.2	+	3	1300	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	388	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTGCTGGACGAACACCATTC	0.428000													17	46					0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9067930	9067930	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9067930C>T	ENST00000397910.4	-	3	19719	c.19516G>A	c.(19516-19518)Gaa>Aaa	p.E6506K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6508	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						CTGGTTTTTTCCACAGAGGGT	0.468000													7	20					0	0	8.12818e-05	0	0
C5orf42	65250	broad.mit.edu	37	5	37183485	37183485	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:37183485A>T	ENST00000274258.7	-	26	5028	c.1441T>A	c.(1441-1443)Tta>Ata	p.L481I	C5orf42_ENST00000508244.1_Missense_Mutation_p.L1600I|C5orf42_ENST00000425232.2_Missense_Mutation_p.L1600I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1600										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGTCGTTTTAATGTTGTATGT	0.358000													13	34					0	0	0.00010058	0	0
HECW2	57520	broad.mit.edu	37	2	197189721	197189721	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:197189721G>A	ENST00000260983.2	-	6	906	c.724C>T	c.(724-726)Cca>Tca	p.P242S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	242	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCCAAATTGGATTGGTGGTG	0.507000													32	141					0	0	0.000228196	0	0
WWC1	23286	broad.mit.edu	37	5	167833291	167833291	+	Missense_Mutation	SNP	G	G	A	rs78544296		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:167833291G>A	ENST00000265293.4	+	6	1181	c.679G>A	c.(679-681)Gct>Act	p.A227T	WWC1_ENST00000521089.1_Missense_Mutation_p.A227T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	227					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CATCAAAAAGGCTATTACCTG	0.428000													24	71					0	0	0.00047179	0	0
FLT3	2322	broad.mit.edu	37	13	28631575	28631575	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:28631575C>T	ENST00000380982.4	-	4	474	c.393G>A	c.(391-393)ttG>ttA	p.L131L	FLT3_ENST00000241453.7_Silent_p.L131L|FLT3_ENST00000537084.1_Silent_p.L131L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	131					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGTCATTTTCAAAATGACCA	0.323000			"""Mis, O"""		"""AML, ALL"""								13	47					0	0	0.000422831	0	0
KLK1	3816	broad.mit.edu	37	19	51323615	51323615	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51323615T>C	ENST00000301420.2	-	3	326	c.291A>G	c.(289-291)ccA>ccG	p.P97P	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	97	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAGGGTGTGGGAAGCTCT	0.567000													22	196					0	0	0.00047179	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215343	140215343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140215343G>A	ENST00000525929.1	+	1	1375	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	PCDHA7_ENST00000378125.3_Missense_Mutation_p.E459K|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCAGCCCGAGTATACGGT	0.672000													26	44					0	0	0.000227799	0	0
PPEF1	5475	broad.mit.edu	37	X	18836213	18836213	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:18836213G>A	ENST00000361511.4	+	16	1945	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	PPEF1_ENST00000544635.1_Missense_Mutation_p.R419Q|PPEF1_ENST00000349874.5_Missense_Mutation_p.R422Q|PPEF1_ENST00000543630.1_Silent_p.T374T|PPEF1_ENST00000359763.6_Missense_Mutation_p.R431Q	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	484	EF-hand 1.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GTGATTTCACGAAAAAGTGAC	0.343000													22	87					0	0	0.000375601	0	0
MROH5	389690	broad.mit.edu	37	8	142506556	142506556	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:142506556C>T	ENST00000430863.1	-	0	206					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGTGTACCTTCATGCAAGATG	0.567000													18	25					0	0	0.000566183	0	0
DSC1	1823	broad.mit.edu	37	18	28710796	28710796	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:28710796G>A	ENST00000257197.3	-	16	2754	c.2493C>T	c.(2491-2493)tcC>tcT	p.S831S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Intron	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	0					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTCCTCTAATGGATTCCTATA	0.249000													8	47					0	0	0.000274275	0	0
NLRP8	126205	broad.mit.edu	37	19	56459471	56459471	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:56459471C>T	ENST00000291971.3	+	1	274	c.203C>T	c.(202-204)aCc>aTc	p.T68I	NLRP8_ENST00000590542.1_Missense_Mutation_p.T68I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	68	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTACTGGCACCATGCCCATC	0.547000													12	20					0	0	0.000151284	0	0
LYST	1130	broad.mit.edu	37	1	235907411	235907411	+	Silent	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:235907411T>G	ENST00000389794.3	-	30	8193	c.8019A>C	c.(8017-8019)gtA>gtC	p.V2673V	LYST_ENST00000389793.2_Silent_p.V2673V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2673					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTTTGAGTTACATTTTCTG	0.299000													17	138					0	0	0.000132079	0	0
FBXO10	26267	broad.mit.edu	37	9	37541368	37541368	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:37541368C>T	ENST00000432825.2	-	2	446	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR|RP11-613M10.8_ENST00000537239.2_3'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	133						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)		GAGCACAATTCGGTCATACAG	0.577000													31	111					0	0	0.000409698	0	0
RNH1	6050	broad.mit.edu	37	11	502099	502099	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:502099C>G	ENST00000534797.1	-	1	1471	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	RNH1_ENST00000533592.1_5'UTR|RNH1_ENST00000397614.1_Missense_Mutation_p.E22Q|RNH1_ENST00000533410.1_Missense_Mutation_p.E22Q|RNH1_ENST00000397615.2_Missense_Mutation_p.E22Q|RNH1_ENST00000397604.3_Missense_Mutation_p.E22Q|RNH1_ENST00000354420.2_Missense_Mutation_p.E22Q|RNH1_ENST00000356187.5_Missense_Mutation_p.E22Q|RNH1_ENST00000438658.2_Missense_Mutation_p.E22Q			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	22					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGGAGCTCGGCCCATCTA	0.667000													8	22					0	0	0.000673444	0	0
FAM107B	83641	broad.mit.edu	37	10	14816510	14816510	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:14816510G>A	ENST00000181796.2	-	1	386	c.153C>T	c.(151-153)acC>acT	p.T51T		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCACACGGACGGTGGAATGAG	0.562000													8	43					0	0	0.000442599	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954580	12954580	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:12954580G>A	ENST00000235347.4	-	3	782	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	235										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGTTCACGAAGATTGCTC	0.483000													29	65					0	0	0.000228196	0	0
SPIC	121599	broad.mit.edu	37	12	101880332	101880332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:101880332G>A	ENST00000551346.1	+	6	689	c.530G>A	c.(529-531)gGa>gAa	p.G177E	SPIC_ENST00000299272.5_Missense_Mutation_p.G177E			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AGAAATTACGGAAGAAGTGGG	0.453000													18	54					0	0	0.000958276	0	0
ZNF208	7757	broad.mit.edu	37	19	22171599	22171599	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:22171599T>C	ENST00000397126.4	-	2	264	c.116A>G	c.(115-117)aAc>aGc	p.N39S	ZNF208_ENST00000601773.1_Missense_Mutation_p.N39S|ZNF208_ENST00000597040.1_Missense_Mutation_p.N7S|ZNF208_ENST00000599916.1_Missense_Mutation_p.N39S	NM_007153.3	NP_009084.2			zinc finger protein 208											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)				GAAGACCAGGTTTCTGTAGTT	0.418000													19	95					0	0	0.000295444	0	0
SUPT4H1	6827	broad.mit.edu	37	17	56423632	56423632	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:56423632G>A	ENST00000577396.1	-	5	618	c.206C>T	c.(205-207)tCc>tTc	p.S69F	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000225504.3_Missense_Mutation_p.S110F|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|SUPT4H1_ENST00000581540.1_Missense_Mutation_p.S101F|BZRAP1-AS1_ENST00000583826.1_RNA|SUPT4H1_ENST00000580947.1_Missense_Mutation_p.S110F			P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	110					chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGTCTCTGGATTTGTAGGC	0.468000													7	63					0	0	0.000274275	0	0
TMEM246	84302	broad.mit.edu	37	9	104238208	104238208	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:104238208C>T	ENST00000374851.1	-	4	2314	c.1167G>A	c.(1165-1167)ggG>ggA	p.G389G	TMEM246_ENST00000374847.1_Silent_p.G389G|TMEM246_ENST00000374848.3_Silent_p.G389G|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	389						integral to membrane											TGGAGAAGAGCCCGATGTGTT	0.517000													24	71					0	0	0.00047179	0	0
BASP1	10409	broad.mit.edu	37	5	17275434	17275434	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:17275434C>T	ENST00000322611.3	+	2	369	c.109C>T	c.(109-111)Ccg>Tcg	p.P37S		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	37					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						GGAGGGGACCCCGAAGGAGAG	0.642000													6	12					0	0	0.000274275	0	0
NEB	4703	broad.mit.edu	37	2	152553955	152553955	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:152553955G>A	ENST00000397345.3	-	15	1476	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	NEB_ENST00000603639.1_Missense_Mutation_p.S425F|NEB_ENST00000172853.10_Missense_Mutation_p.S425F|NEB_ENST00000604864.1_Missense_Mutation_p.S425F|NEB_ENST00000409198.1_Missense_Mutation_p.S425F|NEB_ENST00000427231.2_Missense_Mutation_p.S425F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	425					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTAAGTAGGAATCTTTATA	0.333000													42	108					0	0	0.000319135	0	0
OR5M11	219487	broad.mit.edu	37	11	56310479	56310479	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:56310479G>A	ENST00000528616.2	-	1	278	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCAGATACGATATTAGTCG	0.448000													19	35					0	0	0.000175454	0	0
PDHA2	5161	broad.mit.edu	37	4	96761521	96761521	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:96761521T>C	ENST00000295266.4	+	1	283	c.220T>C	c.(220-222)Ttg>Ctg	p.L74L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	74					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCGCATGGAATTGAAGGCAGA	0.512000													15	45					0	0	0.000219431	0	0
INSR	3643	broad.mit.edu	37	19	7166349	7166349	+	Silent	SNP	T	T	A	rs77792535	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:7166349T>A	ENST00000341500.5	-	8	1716	c.1677A>T	c.(1675-1677)gtA>gtT	p.V559V	INSR_ENST00000302850.5_Silent_p.V559V	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	559					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTCAATGTCTACCACCGTCC	0.552000													25	229					0	0	0.00106085	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565507	24565507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:24565507G>A	ENST00000376862.3	+	3	1129	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	166					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.D166N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTACTCAAGCGACACAGAGAG	0.567000													26	65					0	0	0.000720815	0	0
EVX1	2128	broad.mit.edu	37	7	27284924	27284924	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:27284924G>A	ENST00000496902.4	+	2	1170		c.e2+1		EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_Splice_Site|EVX1_ENST00000222761.3_Splice_Site			P49640	EVX1_HUMAN	even-skipped homeobox 1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CACCATCAAGGTATGCGGGGT	0.607000													20	44					0	0	0.00047179	0	0
DPYSL4	10570	broad.mit.edu	37	10	134010400	134010400	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:134010400G>A	ENST00000338492.4	+	5	678	c.514G>A	c.(514-516)Gac>Aac	p.D172N	DPYSL4_ENST00000368627.1_Missense_Mutation_p.D95N|DPYSL4_ENST00000368629.1_Missense_Mutation_p.D95N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	172					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-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;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGCATACAAGGACCGGTGCCA	0.627000													23	80					0	0	0.000279167	0	0
MYH7	4625	broad.mit.edu	37	14	23888777	23888777	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:23888777C>T	ENST00000355349.3	-	28	3930	c.3768G>A	c.(3766-3768)atG>atA	p.M1256I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1256					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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)		GGTGCTCATTCATCTGGTCTT	0.572000													40	124					0	0	0.000589545	0	0
KCTD19	146212	broad.mit.edu	37	16	67327569	67327569	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:67327569G>A	ENST00000304372.5	-	12	2151	c.2096C>T	c.(2095-2097)cCa>cTa	p.P699L		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	699						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCCTGCCTGTGGTCCTGGATC	0.617000													11	68					0	0	0.000151284	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788911	3788911	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:3788911T>A	ENST00000381771.2	-	2	218	c.71A>T	c.(70-72)gAt>gTt	p.D24V	CAMKK1_ENST00000158166.5_Missense_Mutation_p.D24V|CAMKK1_ENST00000348335.2_Missense_Mutation_p.D24V|CAMKK1_ENST00000381769.2_Missense_Mutation_p.D51V			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	24					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTGAGTCACATCGATGGCTGC	0.617000													7	40					0	0	8.12818e-05	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639400	146639400	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:146639400A>G	ENST00000254101.3	-	3	407	c.269T>C	c.(268-270)gTc>gCc	p.V90A	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	90					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	AGAGATGAAGACCTCCTTGCC	0.502000													65	97					0	0	0.000781405	0	0
C12orf40	283461	broad.mit.edu	37	12	40040150	40040150	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:40040150C>T	ENST00000324616.5	+	4	376	c.222C>T	c.(220-222)acC>acT	p.T74T	C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Silent_p.T74T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	74										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GAAAACCAACCCATGTGAACA	0.274000													7	25					0	0	8.12818e-05	0	0
TMEM45A	55076	broad.mit.edu	37	3	100295801	100295801	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:100295801C>T	ENST00000403410.1	+	8	1435	c.815C>T	c.(814-816)tCc>tTc	p.S272F	TMEM45A_ENST00000323523.4_Missense_Mutation_p.S256F			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	256						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AGGCTCTGCTCCTCAGAAGTT	0.383000													26	77					0	0	0.00106085	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774016	52774016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:52774016G>A	ENST00000216862.3	-	10	1738	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	CYP24A1_ENST00000395954.3_Missense_Mutation_p.P307S|CYP24A1_ENST00000395955.3_Intron	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	449					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGCGCAAAAGGATTAATTTTT	0.418000													19	54					0	0	0.000132079	0	0
CCBE1	147372	broad.mit.edu	37	18	57147471	57147471	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:57147471C>T	ENST00000439986.4	-	3	250		c.e3-1		CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1						lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			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)				GCACTTTTTCCTAAGAGACAA	0.284000													17	32					0	0	0.000958276	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948513	82948513	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:82948513G>A	ENST00000274341.4	-	3	1081	c.231C>T	c.(229-231)atC>atT	p.I77I	HAPLN1_ENST00000514416.1_Silent_p.I77I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	77	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACTTAATTCGGATTTTATGGA	0.433000													12	63					0	0	0.000151284	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885107	24885107	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:24885107C>T	ENST00000382554.3	+	9	4470	c.4152C>T	c.(4150-4152)ctC>ctT	p.L1384L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1384					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						TCTTCAGCCTCCTGTGGGAGC	0.627000													20	59					0	0	0.000958276	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137202	121137202	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:121137202G>A	ENST00000273666.6	+	27	3588	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G1082E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1106					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCTTCGGCAGGAAAAGCATCC	0.473000													10	20					0	0	0.000673444	0	0
FARP1	10160	broad.mit.edu	37	13	99020412	99020412	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:99020412C>A	ENST00000376586.2	+	5	697	c.361C>A	c.(361-363)Ccg>Acg	p.P121T	FARP1_ENST00000319562.6_Missense_Mutation_p.P121T|FARP1_ENST00000595437.1_Missense_Mutation_p.P121T			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	121	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAAATTCTTTCCGCCTGACCA	0.368000													12	44					4.14922e-12	4.4675e-11	0.000422831	1	0
SMOC2	64094	broad.mit.edu	37	6	168910607	168910607	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:168910607G>A	ENST00000354536.5	+	2	317	c.97G>A	c.(97-99)Gat>Aat	p.D33N	SMOC2_ENST00000356284.2_Missense_Mutation_p.D33N	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	33					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTTGAGAGTGGATCAAGATAA	0.458000													17	47					0	0	0.000175454	0	0
GATSL3	652968	broad.mit.edu	37	22	30683225	30683225	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:30683225C>T	ENST00000407689.3	-	4	553	c.424G>A	c.(424-426)Gac>Aac	p.D142N	GATSL3_ENST00000459785.1_5'UTR|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Missense_Mutation_p.D142N	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						CGGTAAATGTCGAACTCCTGG	0.627000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	30					0	0	0.000442599	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448623	142448623	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142448623G>A	ENST00000422143.2	+	0	284																											GGCCACATATGAGAGTGGATT	0.493000													5	15					0	0	0.000602214	0	0
BCR	613	broad.mit.edu	37	22	23615833	23615833	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:23615833C>T	ENST00000305877.8	+	8	2738	c.1987C>T	c.(1987-1989)Cac>Tac	p.H663Y	BCR_ENST00000359540.3_Missense_Mutation_p.H663Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	663	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTTGCTGAAGCACACTCCTGC	0.577000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								7	130					0	0	0.000274275	0	0
GPR17	2840	broad.mit.edu	37	2	128408726	128408726	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:128408726C>T	ENST00000544369.1	+	4	1112	c.501C>T	c.(499-501)tcC>tcT	p.S167S	GPR17_ENST00000272644.3_Silent_p.S167S|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Silent_p.S167S|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	167						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CGGTCAAGTCCCTCAAGCTCC	0.632000													24	100					0	0	0.000878237	0	0
ZIM3	114026	broad.mit.edu	37	19	57646923	57646923	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:57646923G>A	ENST00000269834.1	-	5	1167	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	261					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)		TGATTTCCAGGAAAAGGCTTT	0.378000													44	92					0	0	0.000437636	0	0
CPA6	57094	broad.mit.edu	37	8	68430177	68430177	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:68430177C>T	ENST00000297770.4	-	3	513	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.E100K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	100					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATGTTGGCTTCCTGTAAGAAG	0.413000													12	72					0	0	0.000151284	0	0
KCNT1	57582	broad.mit.edu	37	9	138683645	138683645	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:138683645G>A	ENST00000298480.5	+	31	3642	c.3568G>A	c.(3568-3570)Gag>Aag	p.E1190K	KCNT1_ENST00000491806.2_Missense_Mutation_p.E1155K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E1169K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E1164K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E1168K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E1145K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E1169K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E1147K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1169						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTTTGCAGACGAGATGAACGA	0.642000													21	60					0	0	0.000295444	0	0
COL4A4	1286	broad.mit.edu	37	2	227985809	227985809	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:227985809C>T	ENST00000396625.3	-	5	455	c.248G>A	c.(247-249)gGa>gAa	p.G83E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G83E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	83	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCAATGGGTCCTGGGGCTCC	0.542000													19	28					0	0	0.000229342	0	0
MUC16	94025	broad.mit.edu	37	19	9060338	9060338	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9060338C>T	ENST00000397910.4	-	3	27311	c.27108G>A	c.(27106-27108)atG>atA	p.M9036I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9038	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						TGACTTGTGTCATGGAGTCCT	0.532000													7	46					0	0	8.12818e-05	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19197496	19197496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:19197496C>T	ENST00000446113.2	+	17	1979	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.R490C	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	620					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGGTTCTTCGCTCAGTATG	0.423000													33	128					0	0	0.000374591	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171806	102171806	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:102171806G>A	ENST00000306176.1	+	3	298	c.198G>A	c.(196-198)acG>acA	p.T66T	ZPLD1_ENST00000466937.1_Silent_p.T50T|ZPLD1_ENST00000491959.1_Silent_p.T50T	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	50	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AGGCTATTACGATGAAGATTA	0.383000													17	46					0	0	0.000958276	0	0
RELB	5971	broad.mit.edu	37	19	45515359	45515359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:45515359C>T	ENST00000221452.8	+	4	479	c.329C>T	c.(328-330)cCc>cTc	p.P110L	RELB_ENST00000540120.1_Missense_Mutation_p.P110L|RELB_ENST00000505236.1_Missense_Mutation_p.P107L	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	110						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGGGGCTGCCCCCTGGGCCGA	0.761000													12	35					0	0	0.000308642	0	0
EPHA10	284656	broad.mit.edu	37	1	38227363	38227363	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:38227363G>A	ENST00000373048.4	-	3	563	c.564C>T	c.(562-564)ttC>ttT	p.F188F	EPHA10_ENST00000319637.6_Silent_p.F188F|EPHA10_ENST00000427468.2_Silent_p.F188F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	188						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)				AGGCCAGGTGGAAACCCCGCC	0.677000													14	41					0	0	0.000958276	0	0
ZNF566	84924	broad.mit.edu	37	19	36940055	36940055	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:36940055G>A	ENST00000454319.1	-	5	1218	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	ZNF566_ENST00000434377.2_Missense_Mutation_p.H361Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H361Y|ZNF566_ENST00000392170.2_Missense_Mutation_p.H362Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H257Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCCCCAGTATGAATTCTCTGA	0.383000													13	33					0	0	0.000219431	0	0
PAPD4	167153	broad.mit.edu	37	5	78952792	78952792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:78952792C>T	ENST00000453514.1	+	11	1732	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	PAPD4_ENST00000428308.2_Missense_Mutation_p.P347S|PAPD4_ENST00000423041.2_Missense_Mutation_p.P343S|PAPD4_ENST00000296783.3_Missense_Mutation_p.P347S|PAPD4_ENST00000504233.1_Missense_Mutation_p.P304S	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	347					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCTACCTGAACCCATCCTTCC	0.323000													8	39					0	0	0.000442599	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513847	95513847	+	RNA	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:95513847G>C	ENST00000432432.2	-	0	764					NR_040113.1																						TGCTTAAGAAGGATACTGACA	0.353000													51	571					0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	168100993	168100993	+	Missense_Mutation	SNP	G	G	A	rs143502096	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:168100993G>A	ENST00000409195.1	+	9	3180	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E809K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1031K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	856					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAGTTTGATGAAAGCATTCA	0.368000													10	24					0	0	0.000673444	0	0
OR5L1	219437	broad.mit.edu	37	11	55579695	55579695	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55579695C>T	ENST00000333973.2	+	1	842	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCACTGTCTTCCATGGAACAG	0.517000													20	48					0	0	0.000295444	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688822	131688822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:131688822G>A	ENST00000409359.1	+	3	4058	c.2860G>A	c.(2860-2862)Gga>Aga	p.G954R	ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G98R|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G98R|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.G98R|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.G98R|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G98R			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	98					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCACAAAGATGGAGTCAAGGT	0.557000													4	9					0	0	0.00024832	0	0
ATG2B	55102	broad.mit.edu	37	14	96792033	96792033	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:96792033G>A	ENST00000359933.4	-	15	3283	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	797										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTGGGGTTGATCCTCCTAT	0.353000													12	26					0	0	0.000151284	0	0
WFS1	7466	broad.mit.edu	37	4	6302805	6302805	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:6302805C>T	ENST00000226760.1	+	8	1453	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	WFS1_ENST00000503569.1_Missense_Mutation_p.P428L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	428					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GACTGCATCCCCTGCTCGGAG	0.607000													31	278					0	0	0.000491102	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631291	51631291	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51631291C>T	ENST00000440804.3	+	5	1168	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	SIGLEC9_ENST00000250360.3_Silent_p.F367F	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	367					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTCATCTTCGTTGTGTAAG	0.612000													54	100					0	0	0.000781405	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590850	125590850	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:125590850A>G	ENST00000504087.1	-	4	4619	c.3582T>C	c.(3580-3582)acT>acC	p.T1194T	ANKRD50_ENST00000515641.1_Silent_p.T1015T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1194	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TAGATGAAGTAGTTCTCAAAG	0.388000													8	30					0	0	0.000157383	0	0
SEMG2	6407	broad.mit.edu	37	20	43851116	43851116	+	Silent	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:43851116G>C	ENST00000372769.3	+	2	933	c.843G>C	c.(841-843)cgG>cgC	p.R281R		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	281	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGCATGGCCGGAAGGCACATA	0.398000													15	38					0	0	0.000422831	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300637	103300637	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:103300637C>T	ENST00000233969.2	+	5	1409	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	423						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCGGACCATTCCCCTGACCTT	0.463000													25	53					0	0	0.000184323	0	0
NWD1	284434	broad.mit.edu	37	19	16902224	16902224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:16902224C>T	ENST00000524140.2	+	14	3422	c.3004C>T	c.(3004-3006)Cct>Tct	p.P1002S	NWD1_ENST00000552788.1_Missense_Mutation_p.P1002S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1002S|NWD1_ENST00000523826.1_Missense_Mutation_p.P796S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1002S|NWD1_ENST00000339803.6_Missense_Mutation_p.P867S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1002							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCCTCTGATCCTTGGATGTG	0.522000													24	71					0	0	0.000295444	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468108	61468108	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:61468108G>A	ENST00000398019.2	+	7	931	c.606G>A	c.(604-606)ggG>ggA	p.G202G	SERPINB7_ENST00000546027.1_Silent_p.G202G|SERPINB7_ENST00000336429.2_Silent_p.G202G|SERPINB7_ENST00000540675.1_Silent_p.G185G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	202					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGTGCTCTGGGAAGGCAGTCG	0.363000													10	54					0	0	0.000673444	0	0
MED13	9969	broad.mit.edu	37	17	60030357	60030357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:60030357G>A	ENST00000397786.2	-	27	6162	c.6086C>T	c.(6085-6087)tCt>tTt	p.S2029F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2029					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGTAATGAGATCCTGGAGA	0.463000													16	91					0	0	0.000422831	0	0
SYN3	8224	broad.mit.edu	37	22	33265107	33265107	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:33265107G>A	ENST00000358763.2	-	5	709	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SYN3_ENST00000332840.5_Missense_Mutation_p.S156F	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	156	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGCTTGAAGGATCTGCTGAG	0.577000													10	30					0	0	0.000978159	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004755	102004755	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:102004755A>G	ENST00000372735.1	+	4	1417	c.832A>G	c.(832-834)Atc>Gtc	p.I278V	BHLHB9_ENST00000361229.4_Missense_Mutation_p.I278V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.I278V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.I278V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.I278V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	278						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCACAGCCTATCCCTGAGTG	0.483000													20	68					0	0	0.000175454	0	0
MUC20	200958	broad.mit.edu	37	3	195453210	195453210	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:195453210C>T	ENST00000320736.6	+	3	1349	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	MUC20_ENST00000447234.2_Missense_Mutation_p.A579V|MUC20_ENST00000436408.1_Missense_Mutation_p.A579V|MUC20_ENST00000445522.2_Missense_Mutation_p.A544V	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	579					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCCTCGGAAGCCGCCCTCAAG	0.607000													4	28					0	0	0.000602214	0	0
PDDC1	347862	broad.mit.edu	37	11	772450	772450	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:772450A>G	ENST00000319863.8	-	5	448	c.427T>C	c.(427-429)Ttc>Ctc	p.F143L	PDDC1_ENST00000442059.2_Missense_Mutation_p.F93L|PDDC1_ENST00000397472.2_Missense_Mutation_p.F143L|PDDC1_ENST00000524550.1_Missense_Mutation_p.F107L|PDDC1_ENST00000526325.1_Missense_Mutation_p.F143L|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	143						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGCTGTCGAACACCCAGGAT	0.647000													22	68					0	0	0.000586117	0	0
PKD2L1	9033	broad.mit.edu	37	10	102058345	102058345	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:102058345G>A	ENST00000318222.3	-	4	1087	c.705C>T	c.(703-705)ctC>ctT	p.L235L	PKD2L1_ENST00000338519.3_Silent_p.L235L|PKD2L1_ENST00000353274.3_Silent_p.L235L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	235					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)		GCCCAAAGGGGAGTTGTTCTT	0.527000													40	54					0	0	0.000437636	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156715051	156715051	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:156715051T>G	ENST00000264424.8	+	6	621	c.539T>G	c.(538-540)tTa>tGa	p.L180*	GUCY1B3_ENST00000505154.1_Nonsense_Mutation_p.L112*|GUCY1B3_ENST00000502959.1_Nonsense_Mutation_p.L202*|GUCY1B3_ENST00000507146.1_Nonsense_Mutation_p.L112*|GUCY1B3_ENST00000513437.1_Nonsense_Mutation_p.L112*|GUCY1B3_ENST00000505764.1_Nonsense_Mutation_p.L160*|GUCY1B3_ENST00000503520.1_Nonsense_Mutation_p.L180*	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	180					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACTCAATTTTTAATTGAAGAA	0.323000													5	61					0	0	0.000274275	0	0
CLVS1	157807	broad.mit.edu	37	8	62366804	62366804	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:62366804G>A	ENST00000519846.1	+	5	1207	c.735G>A	c.(733-735)agG>agA	p.R245R	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Silent_p.R245R			Q8IUQ0	CLVS1_HUMAN	clavesin 1	245	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACAAGACCAGGAAACGGGTAA	0.458000													30	92					0	0	0.000339439	0	0
FSD1	79187	broad.mit.edu	37	19	4323568	4323568	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:4323568G>A	ENST00000221856.6	+	13	1566	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	FSD1_ENST00000597590.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	473	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCTGCAGGTCCCCAGTG	0.677000													5	25					0	0	3.59834e-05	0	0
FBN2	2201	broad.mit.edu	37	5	127654673	127654673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:127654673G>A	ENST00000508053.1	-	41	5466	c.4492C>T	c.(4492-4494)Caa>Taa	p.Q1498*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.Q1498*			P35556	FBN2_HUMAN	fibrillin 2	1498	EGF-like 25; 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)		CAAATGTTTTGGAAGGAGCAT	0.323000													14	52					0	0	0.000219431	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55798785G>A	ENST00000313555.1	+	1	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000													25	50					0	0	0.000375601	0	0
AKAP9	10142	broad.mit.edu	37	7	91630784	91630784	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:91630784T>C	ENST00000359028.2	+	9	1814	c.1589T>C	c.(1588-1590)cTa>cCa	p.L530P	AKAP9_ENST00000356239.3_Missense_Mutation_p.L518P|AKAP9_ENST00000358100.2_Missense_Mutation_p.L530P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	530	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	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)			GAACTAGGACTAATTTTAGAA	0.343000			T	BRAF	papillary thyroid								7	79					0	0	0.000157383	0	0
TUBB6	84617	broad.mit.edu	37	18	12325656	12325656	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:12325656A>G	ENST00000317702.5	+	4	1102	c.868A>G	c.(868-870)Acc>Gcc	p.T290A	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	290					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCCCGAGCTCACCCAGCAGAT	0.687000													18	44					0	0	0.000566183	0	0
ADAM29	11086	broad.mit.edu	37	4	175898183	175898183	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:175898183G>A	ENST00000359240.3	+	5	2177	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	ADAM29_ENST00000445694.1_Missense_Mutation_p.E503K|ADAM29_ENST00000514159.1_Missense_Mutation_p.E503K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E503K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	503	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E503K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGACCGCAATGAACAGTGTAG	0.458000													16	67					0	0	0.000132079	0	0
HK3	3101	broad.mit.edu	37	5	176308425	176308425	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:176308425C>T	ENST00000292432.5	-	18	2596	c.2505G>A	c.(2503-2505)agG>agA	p.R835R		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	835	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGGGCAGCCCTCTGGGACA	0.652000													7	23					0	0	0.000157383	0	0
MYH14	79784	broad.mit.edu	37	19	50713817	50713817	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:50713817C>T	ENST00000440075.2	+	2	242	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MYH14_ENST00000425460.1_Silent_p.F65F|MYH14_ENST00000262269.8_Silent_p.F65F|MYH14_ENST00000598205.1_Silent_p.F65F|MYH14_ENST00000596571.1_Silent_p.F65F|MYH14_ENST00000601313.1_Silent_p.F65F|MYH14_ENST00000376970.2_Silent_p.F65F			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	65	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP 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)		TTCACGGGTTCGAGGCGGCGG	0.761000													4	3					0	0	0.000602214	0	0
LTF	4057	broad.mit.edu	37	3	46490500	46490500	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:46490500C>T	ENST00000231751.4	-	9	1361	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	LTF_ENST00000426532.2_Missense_Mutation_p.E312K|LTF_ENST00000417439.1_Missense_Mutation_p.E356K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	356					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCAGCCACTTCCTCCTCACCT	0.662000													6	25					0	0	8.12818e-05	0	0
ZNF728	388523	broad.mit.edu	37	19	23159845	23159845	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:23159845C>T	ENST00000594710.1	-	4	439	c.294G>A	c.(292-294)gtG>gtA	p.V98V		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TTCTCAATATCACTTTTTGGA	0.328000													7	21					0	0	8.12818e-05	0	0
FOXR2	139628	broad.mit.edu	37	X	55650610	55650610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:55650610G>A	ENST00000339140.3	+	1	778	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	156					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGAGCTCACAGAAGAGGAGGC	0.498000													4	17					0	0	0.00024832	0	0
GBA3	57733	broad.mit.edu	37	4	22820418	22820418	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:22820418G>A	ENST00000503442.1	+	0	452				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGAACCAGGGATACAGCAG	0.418000													3	9					0	0	6.4e-05	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880517	89880517	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:89880517C>T	ENST00000534061.1	+	3	444	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	NAALAD2_ENST00000321955.4_Missense_Mutation_p.H72Y|NAALAD2_ENST00000375944.3_Missense_Mutation_p.H72Y|NAALAD2_ENST00000525171.1_Missense_Mutation_p.H72Y	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	72					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAGCTTCCTCATCTGGCAGG	0.363000													12	38					0	0	0.000151284	0	0
CCL11	6356	broad.mit.edu	37	17	32614124	32614124	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:32614124C>A	ENST00000305869.3	+	2	227	c.86C>A	c.(85-87)cCa>cAa	p.P29Q		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	29					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCTTCTGTCCCAACCACCTGC	0.433000													5	47					5.18039e-06	5.52021e-05	0.000157383	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698023	111698023	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:111698023C>T	ENST00000340433.2	+	1	297	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	23							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCAGAGAATCTGATTCTGCG	0.498000													21	75					0	0	0.000175454	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577010	67577010	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:67577010C>G	ENST00000310421.4	-	1	2442	c.2184G>C	c.(2182-2184)caG>caC	p.Q728H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	728					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTTCCGTTTCTGCATTACAG	0.413000													12	84					0	0	0.000978159	0	0
SCEL	8796	broad.mit.edu	37	13	78177246	78177246	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:78177246C>T	ENST00000535157.1	+	17	1177	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.P338L|SCEL_ENST00000349847.3_Missense_Mutation_p.P358L	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	358	16 X approximate tandem repeats.		V -> L (in dbSNP:rs34164479).		embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAAGTAAATCCCAAAGGACAT	0.279000													13	46					0	0	0.000422831	0	0
NANOS3	342977	broad.mit.edu	37	19	13988132	13988132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:13988132G>A	ENST00000397555.2	+	1	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K	NANOS3_ENST00000339133.5_Missense_Mutation_p.E24K|NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	24					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGTGGGAAAGAGGGTCCTGA	0.627000													33	101					0	0	0.000491102	0	0
COIL	8161	broad.mit.edu	37	17	55027336	55027336	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:55027336C>T	ENST00000240316.4	-	2	1301	c.1267G>A	c.(1267-1269)Gtt>Att	p.V423I		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	423	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ACACAGGAAACAGGATGCCCT	0.443000													16	55					0	0	0.000958276	0	0
RXFP1	59350	broad.mit.edu	37	4	159560435	159560435	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:159560435C>T	ENST00000307765.5	+	14	1318	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	RXFP1_ENST00000460056.2_Missense_Mutation_p.S275L|RXFP1_ENST00000343542.5_Missense_Mutation_p.S308L|RXFP1_ENST00000470033.1_Missense_Mutation_p.S323L|RXFP1_ENST00000448688.2_Missense_Mutation_p.S251L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	356						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTGAAATTTCAAATATCCAA	0.284000													8	49					0	0	0.000274275	0	0
GPX6	257202	broad.mit.edu	37	6	28472261	28472261	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:28472261C>T	ENST00000474923.1	-	4	417	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	GPX6_ENST00000361902.1_Silent_p.P158P			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	24					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)	GATCAGAGGTCGGAGGGCAGG	0.443000													23	40					0	0	0.000878237	0	0
CIITA	4261	broad.mit.edu	37	16	10997685	10997685	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:10997685C>T	ENST00000324288.8	+	9	1003	c.870C>T	c.(868-870)ttC>ttT	p.F290F	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.F241F	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	290					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGCCCCTTCGCTCCATCAG	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								20	59					0	0	0.000132079	0	0
PRF1	5551	broad.mit.edu	37	10	72357828	72357828	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:72357828C>T	ENST00000441259.1	-	3	1809	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				14	21					0	0	0.000308642	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907329	12907329	+	Missense_Mutation	SNP	C	C	T	rs2359490		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:12907329C>T	ENST00000317869.6	-	2	1039	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTTTCATCATCCTTGATCAAC	0.507000													13	160					0	0	0.000308642	0	0
LRRC26	389816	broad.mit.edu	37	9	140063403	140063403	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:140063403C>G	ENST00000371542.3	-	2	1015	c.908G>C	c.(907-909)cGc>cCc	p.R303P	RP11-350O14.18_ENST00000568665.1_RNA	NM_001013653.2	NP_001013675.1	Q2I0M4	LRC26_HUMAN	leucine rich repeat containing 26	303						cytoplasm|cytoskeleton|voltage-gated potassium channel complex	ion channel activity|potassium channel regulator activity|protein binding					all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCTcggcgggcggagggcggc	0.796000													3	0					0	0	0.000602214	0	0
DST	667	broad.mit.edu	37	6	56473826	56473826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:56473826G>A	ENST00000370754.5	-	39	5500	c.5501C>T	c.(5500-5502)tCc>tTc	p.S1834F	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S1330F|DST_ENST00000370769.4_Missense_Mutation_p.S1656F|DST_ENST00000361203.3_Missense_Mutation_p.S1656F|DST_ENST00000312431.6_Missense_Mutation_p.S1656F			Q03001	DYST_HUMAN	dystonin	1656					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGGCCATGGATTCTGTTAT	0.438000													62	251					0	0	0.000781405	0	0
RFX3	5991	broad.mit.edu	37	9	3248151	3248151	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:3248151C>T	ENST00000382004.3	-	16	2160	c.1849G>A	c.(1849-1851)Gct>Act	p.A617T	RFX3_ENST00000358730.2_Missense_Mutation_p.A617T|RFX3_ENST00000302303.1_Missense_Mutation_p.A617T	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	617					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAGCTAGCAGCACTGCGTAAG	0.423000													6	27					0	0	8.12818e-05	0	0
DSP	1832	broad.mit.edu	37	6	7583627	7583627	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:7583627C>T	ENST00000379802.3	+	24	6473	c.6132C>T	c.(6130-6132)tcC>tcT	p.S2044S	DSP_ENST00000418664.2_Silent_p.S1445S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2044	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCCAGAATCCACAGTCATGC	0.502000													42	74					0	0	0.000437636	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303172	151303172	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:151303172C>T	ENST00000370323.4	-	4	1237	c.921G>A	c.(919-921)agG>agA	p.R307R	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.R307R	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	307	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498000													39	135					0	0	0.000319135	0	0
NFIX	4784	broad.mit.edu	37	19	13186433	13186433	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:13186433C>T	ENST00000358552.3	+	5	900	c.900C>T	c.(898-900)tcC>tcT	p.S300S	NFIX_ENST00000587260.1_Silent_p.S300S|NFIX_ENST00000397661.2_Silent_p.S301S|NFIX_ENST00000588228.1_Silent_p.S254S|NFIX_ENST00000585575.1_Silent_p.S293S|NFIX_ENST00000587760.1_Silent_p.S293S|NFIX_ENST00000592199.1_Silent_p.S301S|NFIX_ENST00000360105.4_Silent_p.S304S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	301					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAGGCCGTTCCCCAGCAGCTG	0.612000													6	18					0	0	3.59834e-05	0	0
S1PR1	1901	broad.mit.edu	37	1	101705320	101705320	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:101705320C>T	ENST00000305352.6	+	2	1155	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	260					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I260I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCGTAATTATCGTCCTGAGCG	0.597000													30	74					0	0	0.00106085	0	0
ARID3C	138715	broad.mit.edu	37	9	34621491	34621491	+	Silent	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:34621491T>G	ENST00000378909.2	-	7	1295	c.1203A>C	c.(1201-1203)ccA>ccC	p.P401P		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	401	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTGTGGAGGGTGGGGGTGCAG	0.617000													6	40					0	0	0.000157383	0	0
OR4C12	283093	broad.mit.edu	37	11	50003196	50003196	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:50003196T>A	ENST00000335238.4	-	1	875	c.842A>T	c.(841-843)aAt>aTt	p.N281I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GACCACGGGATTTAACATTGG	0.388000													11	27					0	0	0.000978159	0	0
IGHD	3495	broad.mit.edu	37	14	106311869	106311869	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:106311869C>T	ENST00000390556.2	-	0	141																											CTGGGGCTGGCTCTGTGTCCC	0.582000													8	48					0	0	0.000442599	0	0
NPHP3	27031	broad.mit.edu	37	3	132407684	132407684	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:132407684G>A	ENST00000337331.5	-	21	3021	c.2935C>T	c.(2935-2937)Ccc>Tcc	p.P979S	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	979					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGTGATCGGGATCTAAAGCT	0.478000													22	65					0	0	0.000295444	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429862	80429862	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:80429862C>T	ENST00000261749.6	+	7	941	c.519C>T	c.(517-519)caC>caT	p.H173H	ZFAND6_ENST00000558087.1_Silent_p.H173H|ZFAND6_ENST00000558494.1_Silent_p.H173H|ZFAND6_ENST00000559157.1_Silent_p.H161H|ZFAND6_ENST00000561060.1_Silent_p.H173H|ZFAND6_ENST00000559775.1_Silent_p.H173H|ZFAND6_ENST00000559835.1_Silent_p.H173H	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	173							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GTGGTGTACACCGTTACTCAG	0.383000													16	50					0	0	0.000422831	0	0
CST1	1469	broad.mit.edu	37	20	23729711	23729711	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:23729711G>A	ENST00000304749.2	-	2	354	c.284C>T	c.(283-285)aCc>aTc	p.T95I	CST1_ENST00000398402.1_Missense_Mutation_p.T95I	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	95						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CTGGGACTTGGTACATATGGT	0.567000													26	91					0	0	0.00058488	0	0
RIF1	55183	broad.mit.edu	37	2	152293404	152293404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:152293404G>A	ENST00000243326.4	+	11	1742	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E	RIF1_ENST00000444746.2_Missense_Mutation_p.G420E|RIF1_ENST00000453091.2_Missense_Mutation_p.G420E|RIF1_ENST00000428287.2_Missense_Mutation_p.G420E|RIF1_ENST00000430328.2_Missense_Mutation_p.G420E|RIF1_ENST00000433166.2_3'UTR			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	420					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTTAGGTGGAATGGCCACA	0.423000													16	43					0	0	0.000958276	0	0
ZNF530	348327	broad.mit.edu	37	19	58117462	58117462	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:58117462C>T	ENST00000332854.6	+	3	789	c.569C>T	c.(568-570)cCc>cTc	p.P190L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	190					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)		CAGGTGACTCCCACCATTGAG	0.488000													25	92					0	0	0.000184323	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518025	84518025	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:84518025G>A	ENST00000331369.5	+	0	219																											CAGCCGTGGTGGCGTAAGCTG	0.522000													20	20					0	0	0.000958276	0	0
DENND2C	163259	broad.mit.edu	37	1	115161026	115161026	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:115161026C>T	ENST00000393274.1	-	8	1930	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	DENND2C_ENST00000393277.1_Silent_p.K435K|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.K378K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	435										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTAATTCCTTTCCAGTGT	0.343000													30	54					0	0	0.000339439	0	0
PDPR	55066	broad.mit.edu	37	16	70166093	70166093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:70166093G>A	ENST00000288050.4	+	9	1844	c.887G>A	c.(886-888)tGg>tAg	p.W296*	PDPR_ENST00000568530.1_Nonsense_Mutation_p.W296*|PDPR_ENST00000398122.3_Nonsense_Mutation_p.W196*|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	296					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATTCGGAACTGGCAGGGTGGC	0.478000													6	38					0	0	3.59834e-05	0	0
EIF4G2	1982	broad.mit.edu	37	11	10822178	10822178	+	Missense_Mutation	SNP	T	T	C	rs141188640	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:10822178T>C	ENST00000526148.1	-	17	2171	c.1661A>G	c.(1660-1662)gAa>gGa	p.E554G	EIF4G2_ENST00000339995.5_Missense_Mutation_p.E554G|EIF4G2_ENST00000396525.2_Missense_Mutation_p.E516G|EIF4G2_ENST00000525681.1_Missense_Mutation_p.E554G|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	554	MI.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTTAGATATTCAGTCACAAC	0.343000													26	59					0	0	0.000184323	0	0
KEL	3792	broad.mit.edu	37	7	142639971	142639971	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142639971G>A	ENST00000355265.2	-	17	2406	c.1932C>T	c.(1930-1932)atC>atT	p.I644I		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	644					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTGCAGCGCGATGGCTAGCC	0.488000													17	64					0	0	0.000132079	0	0
OR8K3	219473	broad.mit.edu	37	11	56085890	56085890	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:56085890G>A	ENST00000312711.1	+	1	108	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGATCTATGTGATCTCAGTGA	0.433000													45	65					0	0	0.000589545	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425637	74425637	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:74425637C>T	ENST00000429990.1	+	7	1087	c.991C>T	c.(991-993)Cct>Tct	p.P331S						nuclear pore complex interacting protein family, member B15																		TCCACCCTCTCCTCTTCCACC	0.537000													5	87					0	0	3.59834e-05	0	0
PHEX	5251	broad.mit.edu	37	X	22065203	22065203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:22065203G>A	ENST00000379374.4	+	3	788	c.223G>A	c.(223-225)Gat>Aat	p.D75N	PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.D75N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	75					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCTGTCTGTGGATCCTTGTGA	0.388000													24	97					0	0	0.000720815	0	0
ZFAND6	54469	broad.mit.edu	37	15	80414107	80414107	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:80414107A>G	ENST00000261749.6	+	4	630	c.208A>G	c.(208-210)Agt>Ggt	p.S70G	ZFAND6_ENST00000558087.1_Missense_Mutation_p.S70G|ZFAND6_ENST00000558494.1_Missense_Mutation_p.S70G|ZFAND6_ENST00000559157.1_Missense_Mutation_p.S58G|ZFAND6_ENST00000561060.1_Missense_Mutation_p.S70G|ZFAND6_ENST00000559775.1_Missense_Mutation_p.S70G|ZFAND6_ENST00000558688.1_Missense_Mutation_p.S70G|ZFAND6_ENST00000559835.1_Missense_Mutation_p.S70G	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	70	Ser-rich.						DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CACAGATGGCAGTGTGCCAGA	0.418000													5	35					0	0	0.000602214	0	0
UBR1	197131	broad.mit.edu	37	15	43317039	43317039	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:43317039C>T	ENST00000290650.4	-	25	2805	c.2727G>A	c.(2725-2727)ggG>ggA	p.G909G	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	909					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTGGAGCATCCCTTCGGTCC	0.423000													38	115					0	0	0.000270559	0	0
PLCB4	5332	broad.mit.edu	37	20	9391708	9391708	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:9391708G>A	ENST00000378501.2	+	21	2003	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	PLCB4_ENST00000414679.2_Missense_Mutation_p.G675E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.G663E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G675E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G663E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G663E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	663	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGAATCAGGGAAAATTTGAG	0.368000													12	45					0	0	0.000219431	0	0
ABCB10	23456	broad.mit.edu	37	1	229678046	229678046	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:229678046A>G	ENST00000344517.4	-	4	1036	c.994T>C	c.(994-996)Tat>Cat	p.Y332H		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	332	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TATCGCCCATAAATTACAGCA	0.463000													19	12					0	0	0.000229342	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142557655	142557655	+	Missense_Mutation	SNP	C	C	T	rs139818603		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:142557655C>T	ENST00000295992.3	-	5	973	c.667G>A	c.(667-669)Gat>Aat	p.D223N	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.D223N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	223	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.D223N(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTTCTAGCATCGTTGACTTCC	0.373000													11	41					0	0	0.000978159	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698282	111698282	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:111698282G>A	ENST00000340433.2	+	1	556	c.326G>A	c.(325-327)aGt>aAt	p.S109N		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	109							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGTTAGAAAGTTGTGGGATC	0.408000													26	54					0	0	0.000720815	0	0
ABI3BP	25890	broad.mit.edu	37	3	100621520	100621520	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:100621520C>T	ENST00000471714.1	-	3	400	c.291G>A	c.(289-291)ccG>ccA	p.P97P	ABI3BP_ENST00000284322.5_Silent_p.P97P|ABI3BP_ENST00000495063.1_Silent_p.P97P|ABI3BP_ENST00000532144.1_5'UTR			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	97						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCAGATATTTCGGCTCTGCAT	0.418000													11	30					0	0	0.00010058	0	0
MTUS2	23281	broad.mit.edu	37	13	29599311	29599311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:29599311C>T	ENST00000431530.3	+	1	564	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	159						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGGCATGTTCCCAAGGATAAA	0.507000													21	73					0	0	0.000586117	0	0
CBLB	868	broad.mit.edu	37	3	105422976	105422976	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:105422976G>A	ENST00000264122.4	-	11	1770	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	CBLB_ENST00000403724.1_Silent_p.S483S|CBLB_ENST00000394027.3_Silent_p.S505S|CBLB_ENST00000405772.1_Silent_p.S483S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	483	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CAAGGGGAGAGGATCCTGGTG	0.517000			Mis S		AML								22	91					0	0	0.000184323	0	0
UNC79	57578	broad.mit.edu	37	14	94158199	94158199	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:94158199G>A	ENST00000553484.1	+	48	7714	c.7560G>A	c.(7558-7560)caG>caA	p.Q2520Q	UNC79_ENST00000393151.2_Silent_p.Q2498Q|UNC79_ENST00000256339.4_Silent_p.Q2321Q|UNC79_ENST00000555664.1_Silent_p.Q2459Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2498						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCAAAATCAGAATGAATTCA	0.488000													28	58					0	0	0.000184323	0	0
USP17L2	377630	broad.mit.edu	37	8	11994895	11994895	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:11994895G>A	ENST00000333796.3	-	1	1691	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	459					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGGGAGGCAGGGTACCTTCG	0.468000													19	107					0	0	0.00074312	0	0
YLPM1	56252	broad.mit.edu	37	14	75249025	75249025	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:75249025C>T	ENST00000325680.7	+	4	2403	c.2279C>T	c.(2278-2280)cCa>cTa	p.P760L	YLPM1_ENST00000552421.1_Missense_Mutation_p.P760L|YLPM1_ENST00000238571.3_Missense_Mutation_p.P565L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAAGAGGCCCAAGGTAGGTC	0.413000													12	65					0	0	0.000151284	0	0
PAICS	10606	broad.mit.edu	37	4	57325560	57325560	+	Silent	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:57325560T>G	ENST00000514888.1	+	10	1373	c.858T>G	c.(856-858)ctT>ctG	p.L286L	PAICS_ENST00000399688.3_Silent_p.L385L|PAICS_ENST00000512576.1_Silent_p.L378L|PAICS_ENST00000264221.2_Silent_p.L378L			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	378	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	CAACCGTACTTTCTCCAGAAG	0.373000													9	31					0	0	0.000673444	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396267	1396267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:1396267G>A	ENST00000324385.5	+	25	2661	c.2503G>A	c.(2503-2505)Ggg>Agg	p.G835R	BAIAP3_ENST00000562208.1_Missense_Mutation_p.G777R|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G764R|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G817R|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G800R|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G772R|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G817R	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	835					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GGGGCCCGAGGGGGTGCTCCC	0.682000													13	24					0	0	0.00010058	0	0
TAF1A	9015	broad.mit.edu	37	1	222750876	222750876	+	Missense_Mutation	SNP	C	C	A	rs145721552	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:222750876C>A	ENST00000350027.4	-	5	668	c.515G>T	c.(514-516)cGg>cTg	p.R172L	TAF1A_ENST00000366890.1_Missense_Mutation_p.R58L|TAF1A_ENST00000352967.4_Missense_Mutation_p.R172L|TAF1A_ENST00000543857.1_Missense_Mutation_p.R172L|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000391882.1_Missense_Mutation_p.R58L	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TAATATTTCCCGGGAAGACGT	0.383000													11	538					0.00010058	0.00106567	0.00010058	1	0
CCDC74B	91409	broad.mit.edu	37	2	130899916	130899916	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:130899916G>A	ENST00000392984.3	-	2	1383	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000310463.6_Missense_Mutation_p.P112S			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	112										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCGCCCAAGGGAGCAGAGGCC	0.647000													5	30					0	0	0.000219431	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890327	156890327	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:156890327G>A	ENST00000311946.7	+	2	565	c.449G>A	c.(448-450)gGa>gAa	p.G150E	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.G150E	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	150						integral to membrane	receptor activity	p.G88A(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GTGGCCACGGGAGCCACTCGA	0.612000													4	27					0	0	3.59834e-05	0	0
RYR1	6261	broad.mit.edu	37	19	38994938	38994938	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:38994938G>A	ENST00000355481.4	+	50	8136	c.8005G>A	c.(8005-8007)Gag>Aag	p.E2669K	RYR1_ENST00000359596.3_Missense_Mutation_p.E2669K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2669K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2669	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTCACCTCAGAGGAGGAGCT	0.587000													4	38					0	0	8.12818e-05	0	0
MYLK2	85366	broad.mit.edu	37	20	30408279	30408279	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:30408279G>A	ENST00000375994.2	+	2	676	c.403G>A	c.(403-405)Ggc>Agc	p.G135S	MYLK2_ENST00000375985.4_Missense_Mutation_p.G135S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	135					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCAGCAGAGGGCCAAGCAGC	0.632000													11	44					0	0	0.000978159	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533840	24533840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:24533840C>T	ENST00000357578.3	+	10	1653	c.1508C>T	c.(1507-1509)cCt>cTt	p.P503L	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P415L|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P475L|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P516L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	503					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GTGGAGTGCCCTTTTGGTGGA	0.527000													35	133					0	0	0.000814825	0	0
AK7	122481	broad.mit.edu	37	14	96917817	96917817	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:96917817G>A	ENST00000267584.4	+	10	1052	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	336					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTGTGAAGGAGAATTTTAATA	0.373000													16	37					0	0	0.000958276	0	0
KIF23	9493	broad.mit.edu	37	15	69730701	69730701	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69730701A>C	ENST00000260363.4	+	15	1787	c.1670A>C	c.(1669-1671)gAa>gCa	p.E557A	KIF23_ENST00000395392.2_Missense_Mutation_p.E557A|KIF23_ENST00000558585.1_Missense_Mutation_p.E374A|KIF23_ENST00000537891.1_Missense_Mutation_p.E374A|KIF23_ENST00000352331.4_Missense_Mutation_p.E557A|KIF23_ENST00000559279.1_Missense_Mutation_p.E557A	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	557					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CAGAAATTGGAAATAGAACGA	0.323000													21	68					0	0	0.00047179	0	0
OR6K2	81448	broad.mit.edu	37	1	158670152	158670152	+	Silent	SNP	G	G	A	rs142441693	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:158670152G>A	ENST00000359610.2	-	1	334	c.291C>T	c.(289-291)ctC>ctT	p.L97L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACATCTGCAGGAGACAACCAT	0.478000													20	24					0	0	0.000229342	0	0
KIF26B	55083	broad.mit.edu	37	1	245851523	245851523	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:245851523C>T	ENST00000366518.4	+	9	4199	c.4095C>T	c.(4093-4095)cgC>cgT	p.R1365R	KIF26B_ENST00000407071.2_Silent_p.R1746R			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1746					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCAGAGCGCGCGGCCCGTCCG	0.736000													6	28					0	0	8.12818e-05	0	0
LRIG3	121227	broad.mit.edu	37	12	59307766	59307766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:59307766G>A	ENST00000320743.3	-	3	666	c.380C>T	c.(379-381)tCc>tTc	p.S127F	LRIG3_ENST00000379141.4_Missense_Mutation_p.S67F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	127						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CACTTACAAGGAGAGAAGTGT	0.378000			T	ROS1	NSCLC								12	85					0	0	0.000151284	0	0
OTOA	146183	broad.mit.edu	37	16	21698898	21698898	+	Silent	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:21698898A>T	ENST00000388958.3	+	7	565	c.564A>T	c.(562-564)tcA>tcT	p.S188S	OTOA_ENST00000388956.4_Silent_p.S109S|OTOA_ENST00000286149.4_Silent_p.S188S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	188					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGGGGTCCTCAGGGAGCTTTC	0.552000													14	39					0	0	0.000308642	0	0
TENM1	10178	broad.mit.edu	37	X	124028169	124028169	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:124028169C>T	ENST00000422452.2	-	3	574	c.511G>A	c.(511-513)Gag>Aag	p.E171K	TENM1_ENST00000371130.3_Missense_Mutation_p.E171K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCTTGAGCCTCCATGTCACAA	0.418000													9	41					0	0	0.000673444	0	0
MBTPS1	8720	broad.mit.edu	37	16	84092977	84092977	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:84092977G>C	ENST00000343411.3	-	21	3256	c.2761C>G	c.(2761-2763)Cct>Gct	p.P921A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	921					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAGGCCGAGGTTTTGGGTCT	0.527000													4	47					0	0	0.00024832	0	0
SYT5	6861	broad.mit.edu	37	19	55687094	55687094	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:55687094C>T	ENST00000354308.3	-	5	892	c.523G>A	c.(523-525)Gag>Aag	p.E175K	SYT5_ENST00000590851.1_Missense_Mutation_p.E172K|SYT5_ENST00000537500.1_Missense_Mutation_p.E175K|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	175	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCGAAGGTCTCCCCAAAGTGA	0.622000													35	68					0	0	0.000374591	0	0
HCP5	10866	broad.mit.edu	37	6	31431623	31431623	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:31431623G>A	ENST00000414046.2	+	0	695					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						aggcccccaaggggatccctg	0.577000													31	67					0	0	0.000339439	0	0
OR4C15	81309	broad.mit.edu	37	11	55322663	55322663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55322663G>A	ENST00000314644.2	+	1	881	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCCACCTGTGGATCTCACATT	0.433000										HNSCC(20;0.049)			13	56					0	0	0.000151284	0	0
RNF128	79589	broad.mit.edu	37	X	106016362	106016362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:106016362G>A	ENST00000255499.2	+	2	954	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	RNF128_ENST00000324342.3_Missense_Mutation_p.R209Q	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	235						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CGAAGGCTACGGAATGCAAGA	0.373000													19	60					0	0	0.000175454	0	0
KMT2D	8085	broad.mit.edu	37	12	49434137	49434137	+	Silent	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:49434137G>C	ENST00000301067.7	-	31	7415	c.7416C>G	c.(7414-7416)ccC>ccG	p.P2472P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGGGGGCTGGGGTCGGGGTG	0.662000													20	79					0	0	0.000132079	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759016	121759016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:121759016G>A	ENST00000261367.7	+	6	2153	c.725G>A	c.(724-726)gGa>gAa	p.G242E	SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G195E|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G242E|SNCAIP_ENST00000503116.2_Missense_Mutation_p.G242E|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G195E|SNCAIP_ENST00000414317.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	195					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGCTCTACAGGAAGTTCTGAG	0.463000													22	55					0	0	0.000375601	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881856	15881856	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:15881856G>A	ENST00000587443.2	-	0	1041					NR_033864.1																						TGTTCTTGAGGAAATCACAAT	0.527000													8	30					0	0	0.000157383	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515368	140515368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140515368C>T	ENST00000231134.5	+	1	569	c.352C>T	c.(352-354)Caa>Taa	p.Q118*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTTTTTTCAAACTGATCT	0.468000													16	58					0	0	0.000958276	0	0
CLASP1	23332	broad.mit.edu	37	2	122202528	122202528	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:122202528G>A	ENST00000397587.3	-	20	2312	c.1923C>T	c.(1921-1923)acC>acT	p.T641T	CLASP1_ENST00000263710.4_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000545861.1_Silent_p.T409T|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000409078.3_Intron	NM_001142273.1|NM_001142274.1	NP_001135745.1|NP_001135746.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	637	Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCGCTTTAGTGGTAGTACCAT	0.413000													6	13					0	0	0.000157383	0	0
OR51E2	81285	broad.mit.edu	37	11	4703875	4703875	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4703875G>A	ENST00000396950.3	-	2	306	c.67C>T	c.(67-69)Cat>Tat	p.H23Y		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACCCAGAAATGGGCTTTCTCT	0.517000													14	38					0	0	0.000308642	0	0
USP9X	8239	broad.mit.edu	37	X	41075484	41075484	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:41075484T>C	ENST00000324545.7	+	35	6297	c.5664T>C	c.(5662-5664)aaT>aaC	p.N1888N	USP9X_ENST00000378308.2_Silent_p.N1888N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1888					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCCAAAGGAATGGTGGAGATG	0.418000													19	60					0	0	0.000958276	0	0
CYLC2	1539	broad.mit.edu	37	9	105767653	105767653	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:105767653G>A	ENST00000374798.3	+	5	810	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CYLC2_ENST00000487798.1_Missense_Mutation_p.G247E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	247	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATGAGGATGGAAAAAAAGAT	0.363000													16	41					0	0	0.000566183	0	0
B4GALT4	8702	broad.mit.edu	37	3	118935088	118935088	+	Missense_Mutation	SNP	G	G	A	rs145839681		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:118935088G>A	ENST00000467604.1	-	7	1292	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	B4GALT4_ENST00000359213.3_Splice_Site_p.R301_splice|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000393765.2_Splice_Site_p.R301_splice|B4GALT4_ENST00000483209.1_Splice_Site_p.R301_splice|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	301					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AGGACTTACCGTTCTGCGTTC	0.468000													21	50					0	0	0.000175454	0	0
MEPE	56955	broad.mit.edu	37	4	88766239	88766239	+	Silent	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:88766239C>A	ENST00000497649.2	+	6	525	c.147C>A	c.(145-147)tcC>tcA	p.S49S	MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000395102.4_Silent_p.S104S|MEPE_ENST00000361056.3_Silent_p.S73S|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Silent_p.S73S|MEPE_ENST00000560249.1_5'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	73					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGATTTGTCCCTTTCTGAAG	0.313000													16	38					3.52763e-06	3.76335e-05	0.000566183	1	0
MMP26	56547	broad.mit.edu	37	11	5010886	5010886	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5010886C>T	ENST00000380390.1	+	3	324	c.108C>T	c.(106-108)ttC>ttT	p.F36F	MMP26_ENST00000300762.1_Silent_p.F36F|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	36					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGGCTATTTCCATCAATTTT	0.468000													5	5					0	0	0.000602214	0	0
GCNT1	2650	broad.mit.edu	37	9	79117979	79117979	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:79117979G>A	ENST00000442371.1	+	3	1621	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	GCNT1_ENST00000536223.1_Missense_Mutation_p.E228K|GCNT1_ENST00000376730.4_Missense_Mutation_p.E228K|GCNT1_ENST00000444201.2_Missense_Mutation_p.E228K	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	228	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AACCAACCTAGAAATTGTCAG	0.423000													16	57					0	0	0.00074312	0	0
DRG2	1819	broad.mit.edu	37	17	18004832	18004832	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:18004832C>T	ENST00000225729.3	+	8	795	c.657C>T	c.(655-657)ttC>ttT	p.F219F	DRG2_ENST00000395726.4_Silent_p.F219F|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	219					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					AAGTGCTTTTCCGAGAAGACT	0.597000													9	62					0	0	0.000274275	0	0
TEKT4	150483	broad.mit.edu	37	2	95539828	95539828	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:95539828C>T	ENST00000295201.4	+	3	825	c.688C>T	c.(688-690)Ccg>Tcg	p.P230S	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCAGGCTCATCCGTACTCCAC	0.667000													11	46					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179474701	179474701	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179474701G>A	ENST00000589042.1	-	272	51673	c.51449C>T	c.(51448-51450)cCa>cTa	p.P17150L	TTN_ENST00000359218.5_Missense_Mutation_p.P8210L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15509L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P8277L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14582L|TTN_ENST00000460472.2_Missense_Mutation_p.P8085L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15509	Fibronectin type-III 24.						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)			ATCTACAGGTGGATCAGGGGG	0.403000													10	26					0	0	0.000673444	0	0
TTC21A	199223	broad.mit.edu	37	3	39150695	39150695	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:39150695C>T	ENST00000301819.6	+	2	324	c.147C>T	c.(145-147)gtC>gtT	p.V49V	TTC21A_ENST00000440121.1_Silent_p.V49V|TTC21A_ENST00000431162.2_Silent_p.V49V	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	49							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTATGGAGTCCTCAAAGAAG	0.517000													14	40					0	0	0.000151284	0	0
MIR520B	574473	broad.mit.edu	37	19	54204491	54204491	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:54204491G>A	ENST00000384989.1	+	0	11					NR_030195.1																						CCCTCTACAGGGAAGCGCTTT	0.423000													15	38					0	0	0.00074312	0	0
MECR	51102	broad.mit.edu	37	1	29542575	29542575	+	Silent	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:29542575G>C	ENST00000373791.3	-	3	492	c.120C>G	c.(118-120)ggC>ggG	p.G40G	MECR_ENST00000263702.6_Silent_p.G116G|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	116					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	p.G116G(1)		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)		TCACATTGCTGCCCACCGCTA	0.532000													11	60					0	0	0.000219431	0	0
BCL9L	283149	broad.mit.edu	37	11	118771497	118771497	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:118771497G>A	ENST00000334801.3	-	6	3919	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	985	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGTGAACGGACACTGAGGG	0.647000													21	42					0	0	0.000175454	0	0
MYH2	4620	broad.mit.edu	37	17	10435026	10435026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:10435026G>A	ENST00000245503.5	-	22	3005	c.2621C>T	c.(2620-2622)gCa>gTa	p.A874V	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A874V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	874					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						CTTCCTTTTTGCCTCTGACTT	0.428000													28	51					0	0	0.000339439	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:55539794C>T	ENST00000220676.1	+	4	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1118					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)			TGTTCCCTTTCATTCTGCAAT	0.423000													32	30					0	0	0.000227799	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328615	42328615	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:42328615G>A	ENST00000262418.6	-	19	2722	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	856	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGGCCAGGGAGGCCGGCGT	0.637000													5	18					0	0	3.59834e-05	0	0
DNER	92737	broad.mit.edu	37	2	230231737	230231737	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:230231737G>A	ENST00000341772.4	-	12	2088	c.1954C>T	c.(1954-1956)Ctt>Ttt	p.L652F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	652					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATCAGCATAAGGATGAAGGCC	0.562000													8	29					0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13830235	13830235	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:13830235G>A	ENST00000265104.4	-	37	6253	c.6149C>T	c.(6148-6150)tCc>tTc	p.S2050F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2050	AAA 1 (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)					CAGAATAATGGAAATTTGCTG	0.398000									Kartagener syndrome				17	55					0	0	0.000958276	0	0
UTP14A	10813	broad.mit.edu	37	X	129060060	129060060	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:129060060C>T	ENST00000394422.3	+	13	1943	c.1915C>T	c.(1915-1917)Cta>Tta	p.L639L	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.L585L|UTP14A_ENST00000425117.2_Silent_p.L587L|UTP14A_ENST00000371042.3_Silent_p.L471L	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	639					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGGTGTGGGCCTAAAGCCCAG	0.577000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9065219	9065219	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9065219G>A	ENST00000397910.4	-	3	22430	c.22227C>T	c.(22225-22227)tcC>tcT	p.S7409S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7411	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						CTGGTAATGTGGAAGAAACAG	0.522000													7	23					0	0	8.12818e-05	0	0
ITGAM	3684	broad.mit.edu	37	16	31284749	31284749	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:31284749C>T	ENST00000544665.3	+	8	839	c.768C>T	c.(766-768)atC>atT	p.I256I	ITGAM_ENST00000287497.8_Silent_p.I256I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	256	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						TAGTTGTCATCACGGATGGAG	0.493000													11	72					0	0	0.000978159	0	0
LILRA1	11024	broad.mit.edu	37	19	55107358	55107358	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:55107358G>A	ENST00000251372.3	+	6	1098	c.916G>A	c.(916-918)Gag>Aag	p.E306K	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	306	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.E306K(1)		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)		CCTCTCCTCCGAGTGGTCGGC	0.687000													13	70					0	0	0.000219431	0	0
POTEE	445582	broad.mit.edu	37	2	132021467	132021467	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:132021467G>A	ENST00000356920.5	+	15	2533	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	813	Actin-like.						ATP binding										TGAACCCCAAGGCCAACCGCG	0.607000													35	109					0	0	0.000589545	0	0
EPHA1	2041	broad.mit.edu	37	7	143095466	143095466	+	Missense_Mutation	SNP	C	C	T	rs143535859	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:143095466C>T	ENST00000275815.3	-	7	1498	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	471	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTTCGGGGCCGGGACCCCGC	0.602000													15	38					0	0	0.000219431	0	0
TPTE	7179	broad.mit.edu	37	21	10933874	10933874	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr21:10933874C>T	ENST00000298232.7	-	16	1318	c.951G>A	c.(949-951)gcG>gcA	p.A317A	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.A335A|TPTE_ENST00000342420.5_Silent_p.A297A	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	335	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAGTGAATCGCTACGATGT	0.318000													26	378					0	0	0.00106085	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737736	62737736	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:62737736A>T	ENST00000369768.1	-	1	788	c.449T>A	c.(448-450)gTg>gAg	p.V150E		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	150						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)					GCGGGACCTCACGGTGGCCAG	0.632000													7	16					0	0	8.12818e-05	0	0
LPAR1	1902	broad.mit.edu	37	9	113704021	113704021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:113704021C>T	ENST00000374431.3	-	4	856	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	LPAR1_ENST00000538760.1_Missense_Mutation_p.R159Q|LPAR1_ENST00000541779.1_Missense_Mutation_p.R159Q|LPAR1_ENST00000358883.4_Missense_Mutation_p.R158Q|LPAR1_ENST00000374430.2_Missense_Mutation_p.R158Q	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTTGCTCATCCGTGTGTGGAG	0.542000													18	56					0	0	0.00074312	0	0
KLHL2	11275	broad.mit.edu	37	4	166239029	166239029	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:166239029C>T	ENST00000226725.6	+	14	1920	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	KLHL2_ENST00000514860.1_Missense_Mutation_p.S558F|KLHL2_ENST00000421009.2_Missense_Mutation_p.S457F|KLHL2_ENST00000538127.1_Missense_Mutation_p.S466F|KLHL2_ENST00000506761.1_Missense_Mutation_p.S388F|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	554					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GATGATGGTTCCTGTAACTTG	0.368000													7	67					0	0	0.000157383	0	0
SMAGP	57228	broad.mit.edu	37	12	51639802	51639802	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:51639802C>T	ENST00000603798.1	-	4	889	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SMAGP_ENST00000398453.3_Missense_Mutation_p.E73K|DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000603864.1_Missense_Mutation_p.E73K|DAZAP2_ENST00000425012.2_Intron|SMAGP_ENST00000605627.1_Missense_Mutation_p.E59K	NM_001031628.1	NP_001026798.1	Q0VAQ4	SMAGP_HUMAN	small cell adhesion glycoprotein	73						cytoplasmic vesicle membrane|integral to membrane|plasma membrane											GGCTCACCTTCTGTAGGTTCA	0.502000													20	53					0	0	0.000229342	0	0
DNAH5	1767	broad.mit.edu	37	5	13759047	13759047	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:13759047C>T	ENST00000265104.4	-	61	10431	c.10327G>A	c.(10327-10329)Gat>Aat	p.D3443N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3443	Stalk (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)					TTCTGCAGATCCTGCATGGCC	0.547000									Kartagener syndrome				59	112					0	0	0.000781405	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242418	87242418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:87242418C>T	ENST00000297524.3	-	1	192	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G30E|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	30						integral to membrane	amino acid transmembrane transporter activity	p.G30E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACAAAAATTCCTGCACCAAT	0.453000													7	83					0	0	0.000274275	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209737	140209737	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140209737G>A	ENST00000529310.1	+	1	2175	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGCCGCGGGCCCAGAGG	0.672000													4	43					0	0	3.59834e-05	0	0
SPTLC2	9517	broad.mit.edu	37	14	78043202	78043202	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:78043202C>G	ENST00000216484.2	-	4	732	c.539G>C	c.(538-540)gGa>gCa	p.G180A		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	180						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCGTGCAAATCCAAGATAGTT	0.413000													28	196					0	0	0.00106085	0	0
PPM1K	152926	broad.mit.edu	37	4	89186164	89186164	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:89186164C>A	ENST00000295908.6	-	6	1365	c.976G>T	c.(976-978)Gtg>Ttg	p.V326L		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	326	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TGTTCAGTCACCGCATGGGCT	0.478000													7	104					2.17888e-05	0.000231649	0.000442599	1	0
GID8	54994	broad.mit.edu	37	20	61574343	61574343	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:61574343C>T	ENST00000266069.3	+	3	270	c.123C>T	c.(121-123)ggC>ggT	p.G41G		NM_017896.2	NP_060366.1			GID complex subunit 8																		ATTCAGAGGGCTTTAAGGAAG	0.408000													19	52					0	0	0.000132079	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197517	32197517	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:32197517A>G	ENST00000375250.5	-	3	508	c.267T>C	c.(265-267)aaT>aaC	p.N89N	ARHGAP12_ENST00000311380.4_Silent_p.N89N|ARHGAP12_ENST00000375245.4_Silent_p.N89N|ARHGAP12_ENST00000344936.2_Silent_p.N89N|ARHGAP12_ENST00000396144.4_Silent_p.N89N	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	89					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCGTGGAGTTATTTGGCAGAC	0.448000													16	40					0	0	0.000566183	0	0
TMCO4	255104	broad.mit.edu	37	1	20072026	20072026	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:20072026G>A	ENST00000294543.6	-	10	1117	c.877_splice	c.e10+1	p.Y292_splice	TMCO4_ENST00000375127.1_Splice_Site_p.Y292_splice|TMCO4_ENST00000375122.2_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	292						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGTCCTCACGGTATTTGCCAG	0.612000													20	92					0	0	0.000375601	0	0
AMHR2	269	broad.mit.edu	37	12	53823689	53823689	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:53823689C>T	ENST00000257863.4	+	9	1295	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L	AMHR2_ENST00000550311.1_Silent_p.L405L|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	405	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCATGGCCCTCCGACGAGCTG	0.577000													13	45					0	0	0.00010058	0	0
LRP1B	53353	broad.mit.edu	37	2	141625352	141625352	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:141625352G>A	ENST00000389484.3	-	27	5357	c.4386C>T	c.(4384-4386)atC>atT	p.I1462I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1462					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)		GACCTCGGATGATTTCTATCA	0.408000										TSP Lung(27;0.18)			10	35					0	0	0.000442599	0	0
OR5F1	338674	broad.mit.edu	37	11	55761208	55761208	+	Silent	SNP	C	C	T	rs149961467		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55761208C>T	ENST00000278409.1	-	1	893	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTAAAGCCTTCTTTACTTCCT	0.403000													9	41					0	0	0.000442599	0	0
KCTD18	130535	broad.mit.edu	37	2	201371664	201371664	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:201371664G>A	ENST00000359878.3	-	2	586	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.R26W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	26	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GACTCCCGCCGGGCTGTGTAA	0.498000													25	24					0	0	0.000339439	0	0
CACNG2	10369	broad.mit.edu	37	22	37098496	37098496	+	Silent	SNP	G	G	A	rs147878619		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:37098496G>A	ENST00000300105.6	-	1	1107	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	42					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGACACTTTTGGTCTTGCAAA	0.478000													41	246					0	0	0.000509022	0	0
PIP	5304	broad.mit.edu	37	7	142836720	142836720	+	Silent	SNP	C	C	T	rs147384445	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142836720C>T	ENST00000291009.3	+	4	466	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	142						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTATTGAAATCCTAAAGGTAG	0.413000													30	135					0	0	0.000409698	0	0
HMCN1	83872	broad.mit.edu	37	1	185892709	185892709	+	Silent	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:185892709C>A	ENST00000271588.4	+	8	1438	c.1209C>A	c.(1207-1209)ctC>ctA	p.L403L	HMCN1_ENST00000367492.2_Silent_p.L403L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	403					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTCTTTCTCAAAGTAACAG	0.348000													5	66					0.000602214	0.00633006	0.000602214	1	0
FAM41C	284593	broad.mit.edu	37	1	809511	809511	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:809511G>A	ENST00000446136.1	-	0	1182					NR_027055.1																						GAATAATACGGCCATCCAGGA	0.512000													8	66					0	0	0.000274275	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510274	41510274	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:41510274G>A	ENST00000324071.4	+	3	414	c.407G>A	c.(406-408)gGg>gAg	p.G136E	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.G96E|CYP2B6_ENST00000593831.1_Missense_Mutation_p.G60E	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	136					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AGGGACTTCGGGATGGGAAAG	0.567000													14	28					0	0	0.000422831	0	0
KLRC1	3821	broad.mit.edu	37	12	10603144	10603144	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:10603144C>T	ENST00000544822.1	-	4	609	c.222G>A	c.(220-222)ggG>ggA	p.G74G	KLRC1_ENST00000408006.3_Silent_p.G74G|KLRC1_ENST00000536188.1_Silent_p.G74G|KLRC1_ENST00000359151.3_Silent_p.G74G|KLRC1_ENST00000347831.5_Silent_p.G74G	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	74					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TTCCCAGGATCCCAACAATGA	0.428000													32	81					0	0	0.000692331	0	0
MYLK	4638	broad.mit.edu	37	3	123333127	123333127	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:123333127A>G	ENST00000360772.3	-	34	5795	c.5417T>C	c.(5416-5418)aTa>aCa	p.I1806T	MYLK_ENST00000346322.5_Missense_Mutation_p.I1788T|MYLK_ENST00000359169.1_Missense_Mutation_p.I1806T|MYLK_ENST00000354792.5_Missense_Mutation_p.I657T|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.I1857T|MYLK_ENST00000360304.3_Missense_Mutation_p.I1857T|MYLK_ENST00000578202.1_Missense_Mutation_p.I96T|MYLK_ENST00000418370.2_Missense_Mutation_p.I97T|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.I97T			Q15746	MYLK_HUMAN	myosin light chain kinase	1857					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATCGTAGTCTATCTGGAAGTG	0.502000													29	70					0	0	0.000279167	0	0
DOCK3	1795	broad.mit.edu	37	3	51264789	51264789	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:51264789C>T	ENST00000266037.9	+	16	1476	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	485	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGTAATAGTCCTCGCTGGGG	0.468000													26	98					0	0	0.000720815	0	0
LOC401242	401242	broad.mit.edu	37	6	28829563	28829563	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:28829563C>T	ENST00000440244.1	-	0	296					NR_033379.1																						TCATCCTCTTCCCCAGAAAGC	0.542000													3	3					0	0	6.4e-05	0	0
FZD8	8325	broad.mit.edu	37	10	35929461	35929461	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:35929461G>A	ENST00000374694.1	-	1	901	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	299					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGTCGATAAGGAAGGTGGAGA	0.612000													9	14					0	0	0.000151284	0	0
USP8	9101	broad.mit.edu	37	15	50782595	50782595	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:50782595C>T	ENST00000433963.1	+	15	2607	c.2107C>T	c.(2107-2109)Cct>Tct	p.P703S	USP8_ENST00000425032.3_Missense_Mutation_p.P597S|USP8_ENST00000307179.4_Missense_Mutation_p.P703S|USP8_ENST00000396444.3_Missense_Mutation_p.P703S	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	703					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCCACAGATTCCTGCTGAGCG	0.512000													30	70					0	0	0.000279167	0	0
CMPK2	129607	broad.mit.edu	37	2	7001510	7001510	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:7001510G>A	ENST00000256722.5	-	3	796	c.797C>T	c.(796-798)aCc>aTc	p.T266I	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Missense_Mutation_p.T266I|CMPK2_ENST00000404168.1_Missense_Mutation_p.T266I	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	266					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTCACCGTGGTTTTACCTGC	0.443000													11	8					0	0	0.000673444	0	0
ZNF835	90485	broad.mit.edu	37	19	57175842	57175842	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:57175842C>G	ENST00000537055.2	-	2	956	c.725G>C	c.(724-726)cGc>cCc	p.R242P		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGTGGATGCGCTGGTGCTC	0.692000													9	14					0	0	0.000673444	0	0
DGKA	1606	broad.mit.edu	37	12	56334205	56334205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:56334205G>A	ENST00000331886.5	+	11	1360	c.906G>A	c.(904-906)tgG>tgA	p.W302*	DGKA_ENST00000394147.1_Nonsense_Mutation_p.W302*|DGKA_ENST00000551156.1_Nonsense_Mutation_p.W302*|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	302					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATTGTGTATGGTGCCACCTAG	0.612000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	69					0	0	0.000339439	0	0
PRB2	653247	broad.mit.edu	37	12	11546815	11546815	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:11546815T>C	ENST00000389362.4	-	3	232	c.197A>G	c.(196-198)aAc>aGc	p.N66S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGAGGCTGGTTGCCTCCTTG	0.597000													10	101					0	0	0.000958276	0	0
PMEL	6490	broad.mit.edu	37	12	56349168	56349168	+	Splice_Site	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:56349168T>A	ENST00000360714.4	-	11	1850		c.e11-2		PMEL_ENST00000550464.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000552882.1_Intron|PMEL_ENST00000449260.2_Splice_Site|PMEL_ENST00000548747.1_Intron|PMEL_ENST00000536427.1_Splice_Site|PMEL_ENST00000548493.1_Intron	NM_006928.4	NP_008859.1	P40967	PMEL_HUMAN	premelanosome protein						melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCCAGGCACTGCTTCACTCA	0.557000													21	75					0	0	0.000175454	0	0
UBN1	29855	broad.mit.edu	37	16	4909162	4909162	+	Splice_Site	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:4909162T>C	ENST00000396658.4	+	4	1270		c.e4+2		UBN1_ENST00000545171.1_Splice_Site|UBN1_ENST00000590769.1_Splice_Site|UBN1_ENST00000262376.6_Splice_Site	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1						chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCTCCAAAGGTTAGAATGTGC	0.423000													21	40					0	0	0.000132079	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210286	3210286	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:3210286G>A	ENST00000380059.3	-	14	1856	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	SLC4A11_ENST00000539553.1_Silent_p.A542A|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.A558A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	558	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCGTGGGGCTGGCGAGGAAGC	0.647000													14	35					0	0	0.000219431	0	0
NPR3	4883	broad.mit.edu	37	5	32774912	32774912	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:32774912G>A	ENST00000265074.8	+	4	1501	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	NPR3_ENST00000415685.2_Silent_p.G170G|NPR3_ENST00000434067.2_Silent_p.G170G|NPR3_ENST00000415167.2_Silent_p.G386G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	386					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGGATGGAGGGAAAATTATAC	0.443000													32	114					0	0	0.000339439	0	0
TFDP1	7027	broad.mit.edu	37	13	114287495	114287495	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:114287495C>T	ENST00000375370.5	+	6	581	c.369C>T	c.(367-369)gtC>gtT	p.V123V	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Silent_p.V28V|TFDP1_ENST00000538138.1_Silent_p.V28V	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	123					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CCATGAAGGTCTGCGAGAAGG	0.517000										TSP Lung(29;0.18)			9	27					0	0	0.000442599	0	0
ARMC2	84071	broad.mit.edu	37	6	109286209	109286209	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:109286209G>C	ENST00000392644.4	+	17	2480	c.2312G>C	c.(2311-2313)gGt>gCt	p.G771A	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Missense_Mutation_p.G606A	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	771							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGAGATTTGGGTCCTACTGAT	0.343000													63	151					0	0	0.000781405	0	0
SYNE1	23345	broad.mit.edu	37	6	152644785	152644785	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:152644785T>A	ENST00000367255.5	-	82	16346	c.15745A>T	c.(15745-15747)Act>Tct	p.T5249S	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5178S|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4942S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5178S|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5249S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5249					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAGAAGAGTTAAGAGCTCT	0.498000										HNSCC(10;0.0054)			28	30					0	0	0.00106085	0	0
OR51E2	81285	broad.mit.edu	37	11	4703390	4703390	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4703390C>T	ENST00000396950.3	-	2	791	c.552G>A	c.(550-552)atG>atA	p.M184I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M184I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCCAACTTCATTACATCCT	0.498000													23	78					0	0	0.00047179	0	0
SAFB	6294	broad.mit.edu	37	19	5668275	5668275	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:5668275C>T	ENST00000292123.5	+	21	2828	c.2721C>T	c.(2719-2721)agC>agT	p.S907S	SAFB_ENST00000592224.1_Silent_p.S908S|SAFB_ENST00000538656.1_Silent_p.S751S|SAFB_ENST00000588852.1_Silent_p.S909S|SAFB_ENST00000454510.1_Silent_p.S840S|SAFB_ENST00000433404.1_Silent_p.S739S	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	907	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCAGGCCCAGCGATGCCCGCT	0.627000													12	42					0	0	0.000151284	0	0
LRP2	4036	broad.mit.edu	37	2	170088331	170088331	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:170088331G>A	ENST00000263816.3	-	31	5405	c.5120C>T	c.(5119-5121)tCc>tTc	p.S1707F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1707	EGF-like 7.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	GCTGCAGCGGGAAAAGGCACA	0.473000													12	17					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179584176	179584176	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179584176G>A	ENST00000589042.1	-	83	24165	c.23941C>T	c.(23941-23943)Cgg>Tgg	p.R7981W	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7664W|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R6737W|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7664	Ig-like 62.						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)			GGCACAATCCGATCTATGTGG	0.478000													12	45					0	0	0.000978159	0	0
OR51S1	119692	broad.mit.edu	37	11	4869963	4869963	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4869963C>T	ENST00000322101.2	-	1	551	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCAGGCATCGAAAAGAAAT	0.542000													27	101					0	0	0.000878237	0	0
ADTRP	84830	broad.mit.edu	37	6	11735912	11735912	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:11735912G>A	ENST00000414691.3	-	4	805	c.395C>T	c.(394-396)aCt>aTt	p.T132I	ADTRP_ENST00000229583.5_Missense_Mutation_p.T150I|ADTRP_ENST00000379413.2_Missense_Mutation_p.T132I|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	132						integral to membrane											GAATATGAAAGTGTGCTGCAG	0.512000													22	30					0	0	0.000295444	0	0
DGCR2	9993	broad.mit.edu	37	22	19035969	19035969	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:19035969G>A	ENST00000263196.7	-	7	1237	c.990C>T	c.(988-990)ttC>ttT	p.F330F	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.F289F	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	330	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCAGACACATGAACTTGCAGC	0.597000													40	113					0	0	0.000319135	0	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:22134223G>A	ENST00000408935.1	+	1	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393000													6	20					0	0	0.000157383	0	0
OR1J4	26219	broad.mit.edu	37	9	125282298	125282298	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:125282298G>A	ENST00000340750.1	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATAGCCTAAGGAACAGGGACA	0.458000													14	40					0	0	0.000422831	0	0
CCDC30	728621	broad.mit.edu	37	1	43108260	43108260	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:43108260G>A	ENST00000428554.2	+	19	2898	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	CCDC30_ENST00000340612.4_Silent_p.T585T|CCDC30_ENST00000342022.4_Silent_p.T585T|CCDC30_ENST00000390640.4_Silent_p.T374T|CCDC30_ENST00000507855.1_Silent_p.T374T			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	585										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ACAAATGGACGATATCTTCCA	0.458000													14	83					0	0	0.000566183	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045023	55045023	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:55045023C>T	ENST00000335056.3	+	3	181	c.143C>T	c.(142-144)tCc>tTc	p.S48F																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTGACTCTCTCCTGTCATTCC	0.537000													16	44					0	0	0.000422831	0	0
IPO9	55705	broad.mit.edu	37	1	201839936	201839936	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:201839936C>T	ENST00000361565.4	+	18	2428	c.2359C>T	c.(2359-2361)Cgt>Tgt	p.R787C		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	787					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCAGATTCTTCGTGCCATCCT	0.572000													35	35					0	0	0.000814825	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862105	128862105	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:128862105G>A	ENST00000274487.4	+	4	1169	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	342	Peptidase M12B.				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)		TTCCTATCATGGAGCAGATGC	0.393000													18	51					0	0	0.00074312	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488888	20488888	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:20488888G>A	ENST00000555186.1	+	0	371					NR_038836.1																						GACTGCTGGAGTTTAGGAGTT	0.433000													7	97					0	0	0.000274275	0	0
BBX	56987	broad.mit.edu	37	3	107491930	107491930	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:107491930G>A	ENST00000415149.2	+	11	1689	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	BBX_ENST00000325805.8_Silent_p.K454K|BBX_ENST00000402543.1_Silent_p.K454K|BBX_ENST00000406780.1_Silent_p.K454K|BBX_ENST00000416476.2_Intron	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	454	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAAAGAAAAAGAAGAAAAGCA	0.393000													13	51					0	0	0.000151284	0	0
SIDT1	54847	broad.mit.edu	37	3	113327014	113327014	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:113327014C>T	ENST00000264852.4	+	16	2278	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	SIDT1_ENST00000393830.3_Missense_Mutation_p.R518C|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	518						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGTCTTGCGCCGCGACATCCT	0.537000													7	99					0	0	0.000157383	0	0
CSMD1	64478	broad.mit.edu	37	8	3165261	3165261	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:3165261G>A	ENST00000520002.1	-	26	4464	c.3909C>T	c.(3907-3909)ctC>ctT	p.L1303L	CSMD1_ENST00000602723.1_Silent_p.L1303L|CSMD1_ENST00000542608.1_Silent_p.L1302L|CSMD1_ENST00000400186.3_Silent_p.L1303L|CSMD1_ENST00000537824.1_Silent_p.L1302L|CSMD1_ENST00000539096.1_Silent_p.L1302L|CSMD1_ENST00000602557.1_Silent_p.L1303L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1303	CUB 8.					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)		AGGTGCAGTGGAGGTTGTTGT	0.453000													58	83					0	0	0.000781405	0	0
KCNA4	3739	broad.mit.edu	37	11	30033394	30033394	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:30033394C>T	ENST00000328224.6	-	2	2065	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	278						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCTTCCTCTTCTCTCACAAAG	0.502000													11	53					0	0	0.000978159	0	0
INADL	10207	broad.mit.edu	37	1	62393461	62393461	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:62393461T>A	ENST00000371158.2	+	27	3744	c.3630T>A	c.(3628-3630)gaT>gaA	p.D1210E	INADL_ENST00000316485.6_Missense_Mutation_p.D1210E	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1210					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTCTGACTGATGACAGTGATG	0.403000													22	60					0	0	0.000878237	0	0
FAM183B	340286	broad.mit.edu	37	7	38725305	38725305	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:38725305C>T	ENST00000409072.3	-	2	1235	c.301G>A	c.(301-303)Gac>Aac	p.D101N						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CGTTCTGGGTCGACCAAGGCT	0.522000													45	120					0	0	0.000781405	0	0
PRAME	23532	broad.mit.edu	37	22	22890787	22890787	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:22890787A>G	ENST00000543184.1	-	5	2094	c.1232T>C	c.(1231-1233)tTa>tCa	p.L411S	PRAME_ENST00000405655.3_Missense_Mutation_p.L411S|PRAME_ENST00000539862.1_Missense_Mutation_p.L395S|PRAME_ENST00000402697.1_Missense_Mutation_p.L411S|PRAME_ENST00000398743.2_Missense_Mutation_p.L411S|PRAME_ENST00000398741.1_Missense_Mutation_p.L411S|PRAME_ENST00000424204.2_Missense_Mutation_p.L395S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	411					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTAGAAGCTTAAGGTTGTAAG	0.567000													19	63					0	0	0.000958276	0	0
CFTR	1080	broad.mit.edu	37	7	117243607	117243607	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:117243607G>A	ENST00000003084.6	+	17	2811	c.2679G>A	c.(2677-2679)ggG>ggA	p.G893G	CFTR_ENST00000454343.1_Silent_p.G832G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	893	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.G893G(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGACAAAGGGAATAGTACTC	0.378000									Cystic Fibrosis				9	32					0	0	0.000442599	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000													35	61					0	0	0.000953801	0	0
ASB5	140458	broad.mit.edu	37	4	177190076	177190076	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:177190076T>C	ENST00000296525.3	-	1	297	c.184A>G	c.(184-186)Acc>Gcc	p.T62A		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	62					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGTCCTTGGGTTACTCCATAA	0.393000													3	30					0	0	0.000602214	0	0
CUL4B	8450	broad.mit.edu	37	X	119708441	119708441	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:119708441C>T	ENST00000404115.3	-	2	433	c.32G>A	c.(31-33)gGg>gAg	p.G11E	CUL4B_ENST00000486604.1_5'UTR	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	11	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCATCATTCCCATCTCCTGA	0.433000													26	92					0	0	0.000409698	0	0
TPRG1L	127262	broad.mit.edu	37	1	3542403	3542403	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:3542403A>G	ENST00000378344.2	+	3	491	c.420A>G	c.(418-420)gtA>gtG	p.V140V	TPRG1L_ENST00000344579.5_Intron	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	140						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		TCAACGCAGTAGACACCATTT	0.527000													10	32					0	0	0.000442599	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650068	51650068	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51650068C>T	ENST00000317643.6	+	5	1154	c.1085C>T	c.(1084-1086)aCa>aTa	p.T362I	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.T269I|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	362					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCTGGAGCCACAGCCCTGGTC	0.572000													26	82					0	0	0.000339439	0	0
LTB4R	1241	broad.mit.edu	37	14	24785488	24785488	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:24785488C>G	ENST00000396789.4	+	2	2356	c.631C>G	c.(631-633)Cgg>Ggg	p.R211G	LTB4R_ENST00000396782.2_Missense_Mutation_p.R211G|LTB4R_ENST00000345363.3_Missense_Mutation_p.R211G	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	211					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCTACAGGCCCGGCGCTTCCG	0.672000													8	34					0	0	0.000157383	0	0
PSG11	5680	broad.mit.edu	37	19	43519471	43519471	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:43519471C>T	ENST00000401740.1	-	4	864	c.761G>A	c.(760-762)gGa>gAa	p.G254E	PSG11_ENST00000403486.1_Missense_Mutation_p.G132E|PSG11_ENST00000306322.7_Missense_Mutation_p.G132E|PSG11_ENST00000320078.7_Missense_Mutation_p.G254E			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	254	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GAGGTTCTCTCCTGAATAGTA	0.463000													34	105					0	0	0.000692331	0	0
IKZF1	10320	broad.mit.edu	37	7	50459558	50459558	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:50459558C>T	ENST00000331340.3	+	7	1002	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196F|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.L241F|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241F|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196F	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	283					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	16					0	0	0.00024832	0	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333000													4	26					0	0	0.00024832	0	0
DLX5	1749	broad.mit.edu	37	7	96651668	96651668	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:96651668G>A	ENST00000222598.4	-	2	842	c.369C>T	c.(367-369)acC>acT	p.T123T	DLX5_ENST00000486603.2_Silent_p.T123T|DLX5_ENST00000493764.1_Intron	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	123					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCTCGGGCTCGGTCACTTCTT	0.448000													11	64					0	0	0.000673444	0	0
FZD8	8325	broad.mit.edu	37	10	35930060	35930060	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:35930060A>T	ENST00000374694.1	-	1	302	c.298T>A	c.(298-300)Tac>Aac	p.Y100N		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	100	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGCTTCTTGTAGTCCTCTAGG	0.667000													10	26					0	0	0.000151284	0	0
SYT1	6857	broad.mit.edu	37	12	79689912	79689912	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:79689912C>T	ENST00000261205.4	+	7	1195	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYT1_ENST00000393240.3_Missense_Mutation_p.P180S|SYT1_ENST00000457153.2_Missense_Mutation_p.P177S|SYT1_ENST00000552744.1_Missense_Mutation_p.P180S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	180	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P180S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACATCTGATCCTTACGTGAA	0.423000													18	46					0	0	0.000958276	0	0
REG1B	5968	broad.mit.edu	37	2	79314715	79314715	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:79314715G>A	ENST00000305089.3	-	2	104	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	8					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGATCAGCATGAAGAACGAGT	0.493000													6	36					0	0	0.000157383	0	0
NYAP2	57624	broad.mit.edu	37	2	226378250	226378250	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:226378250G>A	ENST00000272907.6	+	3	798	c.385G>A	c.(385-387)Gat>Aat	p.D129N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	129																	GGGCACAGACGATGACAGCAG	0.572000													8	31					0	0	0.000274275	0	0
SERPINB6	5269	broad.mit.edu	37	6	2949198	2949198	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:2949198C>T	ENST00000380520.1	-	5	2673	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SERPINB6_ENST00000335686.5_Missense_Mutation_p.E227K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E227K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E227K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E227K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E227K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	227					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	ATATTCAGTTCCTTGCCAACA	0.453000													57	61					0	0	0.000781405	0	0
IL36A	27179	broad.mit.edu	37	2	113765409	113765409	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:113765409G>A	ENST00000259211.6	+	4	676	c.264_splice	c.e4-1	p.E89_splice		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	89					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CACCCTTCAGGAAAAGGATAT	0.463000													22	82					0	0	0.000375601	0	0
EPPK1	83481	broad.mit.edu	37	8	144941965	144941965	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:144941965G>A	ENST00000525985.1	-	2	5528	c.5457C>T	c.(5455-5457)gcC>gcT	p.A1819A				P58107	EPIPL_HUMAN	epiplakin 1	1819						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCACTCTGGGCTCCATACT	0.547000													79	82					0	0	0.000781405	0	0
DDX42	11325	broad.mit.edu	37	17	61886300	61886300	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:61886300T>A	ENST00000578681.1	+	11	1745	c.1144T>A	c.(1144-1146)Tgt>Agt	p.C382S	DDX42_ENST00000583590.1_Missense_Mutation_p.C382S|DDX42_ENST00000457800.2_Missense_Mutation_p.C382S|DDX42_ENST00000389924.2_Missense_Mutation_p.C382S|DDX42_ENST00000359353.5_Missense_Mutation_p.C263S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	382	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATTGTTGTGTGTACCCCAGT	0.473000													28	58					0	0	0.000227799	0	0
KCNA4	3739	broad.mit.edu	37	11	30033883	30033883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:30033883C>T	ENST00000328224.6	-	2	1576	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	115						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGGATCTTCTCCTCAGAGCCA	0.552000													5	21					0	0	0.000602214	0	0
ARID1A	8289	broad.mit.edu	37	1	27057924	27057924	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:27057924C>T	ENST00000324856.7	+	3	2003	c.1632C>T	c.(1630-1632)caC>caT	p.H544H	ARID1A_ENST00000457599.2_Silent_p.H544H|ARID1A_ENST00000374152.2_Silent_p.H161H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	544					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	nBAF complex|npBAF complex|SWI/SNF 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)		CACAGCAGCACCCCCAGAGCC	0.647000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								33	80					0	0	0.000339439	0	0
GRIA2	2891	broad.mit.edu	37	4	158254046	158254046	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:158254046G>A	ENST00000296526.7	+	7	1283	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	GRIA2_ENST00000393815.2_Missense_Mutation_p.E273K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E273K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E273K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E320K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	320					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E320Q(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCAAAGAATTGAAATCTCCCG	0.483000													7	21					0	0	8.12818e-05	0	0
FN1	2335	broad.mit.edu	37	2	216249597	216249597	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:216249597G>C	ENST00000354785.4	-	29	5084	c.4715C>G	c.(4714-4716)aCt>aGt	p.T1572S	FN1_ENST00000446046.1_Missense_Mutation_p.T1481S|FN1_ENST00000443816.1_Missense_Mutation_p.T1481S|FN1_ENST00000432072.2_Missense_Mutation_p.T1572S|FN1_ENST00000421182.1_Missense_Mutation_p.T1481S|FN1_ENST00000359671.1_Missense_Mutation_p.T1481S|FN1_ENST00000357867.4_Missense_Mutation_p.T1481S|FN1_ENST00000357009.2_Missense_Mutation_p.T1481S|FN1_ENST00000356005.4_Missense_Mutation_p.T1481S|FN1_ENST00000346544.3_Missense_Mutation_p.T1481S|FN1_ENST00000345488.5_Missense_Mutation_p.T1481S|FN1_ENST00000336916.4_Missense_Mutation_p.T1481S|FN1_ENST00000323926.6_Missense_Mutation_p.T1572S			P02751	FINC_HUMAN	fibronectin 1	1575	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCGTAAGTGATCCTGTA	0.458000													4	66					0	0	0.000602214	0	0
DGKB	1607	broad.mit.edu	37	7	14647102	14647102	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:14647102G>A	ENST00000403951.2	-	17	1812	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	DGKB_ENST00000407950.1_Missense_Mutation_p.P457S|DGKB_ENST00000406247.3_Missense_Mutation_p.P465S|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.P465S|DGKB_ENST00000402815.1_Missense_Mutation_p.P464S|DGKB_ENST00000399322.3_Missense_Mutation_p.P465S|DGKB_ENST00000444700.2_Missense_Mutation_p.P446S			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	465	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACCTGACGAGGATTTAATAGA	0.279000													10	43					0	0	0.000151284	0	0
USHBP1	83878	broad.mit.edu	37	19	17361183	17361183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:17361183C>T	ENST00000252597.3	-	13	2136	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	AC010646.3_ENST00000594059.1_Intron|USHBP1_ENST00000431146.2_Missense_Mutation_p.E591K	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	655							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CGTTGCTCTTCCTGCTTCCGG	0.672000													10	46					0	0	0.000673444	0	0
ZNF142	7701	broad.mit.edu	37	2	219508822	219508822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:219508822G>A	ENST00000411696.2	-	7	3196	c.2417C>T	c.(2416-2418)gCc>gTc	p.A806V	ZNF142_ENST00000449707.1_Missense_Mutation_p.A806V			P52746	ZN142_HUMAN	zinc finger protein 142	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTCCTTAGGGCCTTGAGTAA	0.567000													51	167					0	0	0.000781405	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376702	8376702	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:8376702C>T	ENST00000538603.1	-	5	791	c.233G>A	c.(232-234)gGg>gAg	p.G78E	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G78E	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	78							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTTTTCCTTCCCTTCCTTTTC	0.547000													17	177					0	0	0.000566183	0	0
TNIP3	79931	broad.mit.edu	37	4	122063913	122063913	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:122063913C>T	ENST00000454328.1	-	10	981	c.754G>A	c.(754-756)Gag>Aag	p.E252K	TNIP3_ENST00000507879.1_Missense_Mutation_p.E322K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E252K|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.E329K			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	252										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTTTCTTTCTCCATCTGACAA	0.323000													12	73					0	0	0.00010058	0	0
RTTN	25914	broad.mit.edu	37	18	67727214	67727214	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:67727214T>C	ENST00000255674.6	-	36	5098	c.4812A>G	c.(4810-4812)aaA>aaG	p.K1604K	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1604							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAACACACAGTTTGGGCAGGG	0.428000													14	18					0	0	0.000132079	0	0
TMEM37	140738	broad.mit.edu	37	2	120194936	120194936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:120194936G>A	ENST00000306406.4	+	2	528	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.E177K	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	165						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTTTTGGTGCGAATTCACTGC	0.552000													64	229					0	0	0.000781405	0	0
F8	2157	broad.mit.edu	37	X	154194290	154194290	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:154194290T>C	ENST00000360256.4	-	9	1598	c.1398A>G	c.(1396-1398)ggA>ggG	p.G466G	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	466	F5/8 type A 2.|Plastocyanin-like 3.		G -> E (in HEMA; severe sporadic).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCCCAAGATTCCTGATTCAT	0.403000													33	108					0	0	0.000228196	0	0
NOL6	65083	broad.mit.edu	37	9	33463377	33463377	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:33463377G>A	ENST00000455041.2	-	23	2960	c.2901C>T	c.(2899-2901)atC>atT	p.I967I	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1019					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTGCCGCGGGATATGGCGAG	0.662000													10	18					0	0	0.000978159	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000													20	48					0	0	0.000175454	0	0
NVL	4931	broad.mit.edu	37	1	224482016	224482016	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:224482016G>A	ENST00000281701.6	-	12	1537	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	NVL_ENST00000391875.2_Silent_p.F320F|NVL_ENST00000340871.4_Silent_p.F237F|NVL_ENST00000482491.1_Silent_p.F150F|NVL_ENST00000361463.3_Silent_p.F320F|NVL_ENST00000469075.1_Silent_p.F335F	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	426						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTTCTCGGTCGAACCTTCCCG	0.448000													26	28					0	0	0.000720815	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093586	30093586	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:30093586C>T	ENST00000567636.1	+	0	1961					NR_003558.1																						GAGAGTACGTCGGGAGAATAA	0.493000													12	89					0	0	0.000151284	0	0
XDH	7498	broad.mit.edu	37	2	31620595	31620595	+	Splice_Site	SNP	C	C	T	rs149508779		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:31620595C>T	ENST00000379416.3	-	6	482	c.433_splice	c.e6-1	p.G145_splice		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	145					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	p.G145E(1)		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)	GCACAGATTTCCTGTGGGCCA	0.542000													31	58					0	0	0.000409698	0	0
NPAP1	23742	broad.mit.edu	37	15	24922598	24922598	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:24922598C>T	ENST00000329468.2	+	1	2058	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCCTCTTTCCTTCCTGACTC	0.532000													34	115					0	0	0.000692331	0	0
TBX5	6910	broad.mit.edu	37	12	114793661	114793661	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:114793661G>A	ENST00000310346.4	-	9	1899	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	TBX5_ENST00000405440.2_Silent_p.T411T|TBX5_ENST00000349716.5_Silent_p.T361T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	411					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CGGTGGTGACGGTGCAGCTGC	0.652000													12	42					0	0	0.00010058	0	0
MYNN	55892	broad.mit.edu	37	3	169497339	169497339	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:169497339A>T	ENST00000349841.5	+	3	1713	c.1050A>T	c.(1048-1050)agA>agT	p.R350S	MYNN_ENST00000356716.4_Missense_Mutation_p.R350S|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.R350S|MYNN_ENST00000392733.1_Missense_Mutation_p.R350S	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CGCATGTAAGAACTCATACAG	0.388000													17	43					0	0	0.00074312	0	0
SDC1	6382	broad.mit.edu	37	2	20402885	20402885	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:20402885G>A	ENST00000381150.1	-	5	1116	c.726C>T	c.(724-726)gcC>gcT	p.A242A	SDC1_ENST00000254351.4_Silent_p.A242A|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	242		Cleavage (By similarity).			lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGCCCTGTGAGGCCCCCGTGG	0.622000													22	51					0	0	0.00047179	0	0
KLHL1	57626	broad.mit.edu	37	13	70371071	70371071	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:70371071C>T	ENST00000377844.4	-	7	2197	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D287N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	480					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTCTCAGATCATATTTCTCT	0.388000													22	100					0	0	0.000375601	0	0
NRK	203447	broad.mit.edu	37	X	105137833	105137833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:105137833G>A	ENST00000428173.2	+	6	690	c.387G>A	c.(385-387)atG>atA	p.M129I	NRK_ENST00000243300.9_Missense_Mutation_p.M129I|NRK_ENST00000536164.1_Missense_Mutation_p.M129I			Q7Z2Y5	NRK_HUMAN	Nik related kinase	129	Protein kinase.						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						AGATGGTGATGGAGTTATGTG	0.378000										HNSCC(51;0.14)			12	24					0	0	0.000308642	0	0
TBL1X	6907	broad.mit.edu	37	X	9622287	9622287	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:9622287C>T	ENST00000217964.7	+	5	776	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1X_ENST00000536365.1_5'UTR|TBL1X_ENST00000424279.1_5'UTR|TBL1X_ENST00000407597.2_Missense_Mutation_p.P46S|TBL1X_ENST00000380961.1_5'UTR	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	46					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CACCTCATCGCCGCGAGGTGA	0.443000													20	56					0	0	0.000958276	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													8	30					0	0	0.000673444	0	0
ZNF534	147658	broad.mit.edu	37	19	52938438	52938438	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:52938438G>A	ENST00000332323.6	+	3	347	c.286G>A	c.(286-288)Gag>Aag	p.E96K	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Missense_Mutation_p.E83K|ZNF534_ENST00000433050.1_Missense_Mutation_p.E83K	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGATGGCAGGGAGTGCATCAA	0.483000													6	31					0	0	0.000157383	0	0
HCN3	57657	broad.mit.edu	37	1	155254528	155254528	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:155254528C>T	ENST00000368358.3	+	4	1077	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	357						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)			GGACTCTTCCCGGCGTCAGTA	0.597000													20	22					0	0	0.000175454	0	0
NLRP5	126206	broad.mit.edu	37	19	56565173	56565173	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:56565173G>A	ENST00000390649.3	+	13	3298	c.3299_splice	c.e13+1	p.G1100_splice		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1100						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)		GGCGAGACTCGGGTAACTTCC	0.602000													11	49					0	0	0.000308642	0	0
FER1L5	90342	broad.mit.edu	37	2	97364781	97364781	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:97364781G>A	ENST00000457909.1	+	0	4021							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCTGACCCCAGTGTGACCCTT	0.572000													4	10					0	0	0.00024832	0	0
SAFB	6294	broad.mit.edu	37	19	5648043	5648043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:5648043C>T	ENST00000292123.5	+	6	733	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SAFB_ENST00000592224.1_Missense_Mutation_p.S209F|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Missense_Mutation_p.S52F|SAFB_ENST00000588852.1_Missense_Mutation_p.S209F|SAFB_ENST00000454510.1_Missense_Mutation_p.S140F|SAFB_ENST00000433404.1_Missense_Mutation_p.S39F	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	209					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAAGAGCCATCCCTGGAGCCA	0.363000													19	38					0	0	0.000229342	0	0
ABCC6	368	broad.mit.edu	37	16	16271311	16271311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:16271311C>T	ENST00000205557.7	-	19	2617	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	863					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCTAGTACCTCCTTCTCCTCT	0.582000													14	68					0	0	0.000308642	0	0
CACNA1B	774	broad.mit.edu	37	9	140952615	140952615	+	Silent	SNP	C	C	T	rs35538393		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:140952615C>T	ENST00000277549.5	+	29	4378	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	CACNA1B_ENST00000371363.1_Silent_p.F1407F|CACNA1B_ENST00000371372.1_Silent_p.F1407F|CACNA1B_ENST00000277551.2_Silent_p.F1407F|CACNA1B_ENST00000371355.4_Silent_p.F1408F|CACNA1B_ENST00000371357.1_Silent_p.F1408F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1407					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTTCTTCTTCGTCAACATCT	0.537000													29	106					0	0	0.000227799	0	0
GPR179	440435	broad.mit.edu	37	17	36484409	36484409	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:36484409C>T	ENST00000342292.4	-	11	5063	c.5043G>A	c.(5041-5043)gtG>gtA	p.V1681V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1681						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTTGCTTCCCACACTGCCTG	0.587000													35	78					0	0	0.00111076	0	0
MSL3	10943	broad.mit.edu	37	X	11783870	11783870	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:11783870C>T	ENST00000337339.2	+	9	1220	c.1193C>T	c.(1192-1194)cCc>cTc	p.P398L	MSL3_ENST00000398527.2_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000312196.4_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000380693.3_Intron	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	0					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CTCGGGTGCCCCAGGCCGGGG	0.582000													25	100					0	0	0.000878237	0	0
PVRL2	5819	broad.mit.edu	37	19	45375346	45375346	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:45375346A>G	ENST00000252483.5	+	3	715	c.715A>G	c.(715-717)Aaa>Gaa	p.K239E	PVRL2_ENST00000252485.4_Missense_Mutation_p.K239E	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	239	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGTCACCTGCAAAGTGGAGCA	0.602000													98	223					0	0	0.000781405	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166442	9166442	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:9166442G>A	ENST00000383836.3	-	2	654	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.S76F	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	76	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCGGATTTTGGAGGAGAAGCG	0.587000			T	RAF1	pilocytic astrocytoma								17	67					0	0	0.000132079	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917927	94917927	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:94917927C>T	ENST00000289495.5	+	17	3791	c.3575C>T	c.(3574-3576)tCt>tTt	p.S1192F	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S1270F|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S994F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S994F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	994						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGCAGGTTTCTCACTGGTTA	0.448000										HNSCC(28;0.073)			18	62					0	0	0.000958276	0	0
COL3A1	1281	broad.mit.edu	37	2	189850505	189850505	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:189850505G>A	ENST00000304636.3	+	4	617		c.e4+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCAGGTATAACAATT	0.433000													7	9					0	0	0.000157383	0	0
OR6T1	219874	broad.mit.edu	37	11	123814341	123814341	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:123814341G>A	ENST00000321252.2	-	1	239	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AACAGCTCCAGGAAGGAGAAA	0.493000													15	32					0	0	0.000308642	0	0
MCTP2	55784	broad.mit.edu	37	15	94841934	94841934	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:94841934G>A	ENST00000357742.4	+	1	440	c.440G>A	c.(439-441)gGa>gAa	p.G147E	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.G147E|MCTP2_ENST00000543482.1_Missense_Mutation_p.G147E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	147					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ACTTCCCTTGGAGGGGATGCA	0.527000													18	65					0	0	0.000958276	0	0
NEBL	10529	broad.mit.edu	37	10	21134200	21134200	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:21134200T>C	ENST00000377122.4	-	12	1610	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	405					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTCAGAAGGTTGGTGATGTA	0.328000													13	25					0	0	0.000151284	0	0
GATA4	2626	broad.mit.edu	37	8	11607646	11607646	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:11607646C>T	ENST00000335135.4	+	4	1368	c.810C>T	c.(808-810)tcC>tcT	p.S270S	GATA4_ENST00000528712.1_Silent_p.S64S|GATA4_ENST00000532059.1_Silent_p.S271S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	270					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.S270S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TGGGCCTCTCCTGTGCCAACT	0.627000													21	28					0	0	0.00047179	0	0
SLC18A1	6570	broad.mit.edu	37	8	20028641	20028641	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:20028641G>C	ENST00000440926.1	-	9	1301	c.831C>G	c.(829-831)atC>atG	p.I277M	SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000381608.4_Missense_Mutation_p.I277M|SLC18A1_ENST00000276373.5_Missense_Mutation_p.I277M|SLC18A1_ENST00000519026.1_Missense_Mutation_p.I277M|SLC18A1_ENST00000265808.7_Missense_Mutation_p.I277M|SLC18A1_ENST00000437980.1_Missense_Mutation_p.I277M	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	277					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AAGGCTGTAGGATGCAAAGCT	0.493000													47	40					0	0	0.000781405	0	0
NRXN2	9379	broad.mit.edu	37	11	64417920	64417920	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:64417920C>T	ENST00000265459.6	-	15	3570	c.3109_splice	c.e15+1	p.G1037_splice	NRXN2_ENST00000409571.1_Splice_Site_p.G1030_splice|NRXN2_ENST00000377559.3_Splice_Site_p.G997_splice|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Splice_Site_p.G1037_splice	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1037	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGCCCCACCTTTGAGATCG	0.637000													22	59					0	0	0.000878237	0	0
DNAH8	1769	broad.mit.edu	37	6	38885052	38885052	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:38885052T>A	ENST00000359357.3	+	67	9781	c.9527T>A	c.(9526-9528)cTt>cAt	p.L3176H	DNAH8_ENST00000449981.2_Missense_Mutation_p.L3393H|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3140H					dynein, axonemal, heavy chain 8											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						GTCAGGAAACTTGCAAAACCA	0.328000													8	70					0	0	0.000673444	0	0
UNC45B	146862	broad.mit.edu	37	17	33513459	33513459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:33513459G>A	ENST00000268876.5	+	20	2774	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	UNC45B_ENST00000591048.1_Missense_Mutation_p.E812K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E812K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E891K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E891K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	893					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGAGCTGCTGGAGATCCTGAC	0.552000													14	35					0	0	0.000219431	0	0
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:70446077C>T	ENST00000310961.5	+	10	1046	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.Q205*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205						centrosome|focal adhesion|nucleolus	protein binding	p.Q205K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTCTGGATCAAATACAAAA	0.328000													26	147					0	0	0.000339439	0	0
TBX4	9496	broad.mit.edu	37	17	59557581	59557581	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:59557581G>A	ENST00000393853.4	+	8	1085	c.922G>A	c.(922-924)Ggg>Agg	p.G308R	TBX4_ENST00000240335.1_Missense_Mutation_p.G308R|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	308					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCACGAGAACGGGGCACACTC	0.647000													18	43					0	0	0.000295444	0	0
TTN	7273	broad.mit.edu	37	2	179666903	179666903	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179666903G>C	ENST00000589042.1	-	3	481	c.257C>G	c.(256-258)tCt>tGt	p.S86C	TTN_ENST00000359218.5_Missense_Mutation_p.S86C|TTN_ENST00000591111.1_Missense_Mutation_p.S86C|TTN_ENST00000342175.6_Missense_Mutation_p.S86C|TTN_ENST00000342992.6_Missense_Mutation_p.S86C|TTN_ENST00000360870.5_Missense_Mutation_p.S86C|TTN_ENST00000460472.2_Missense_Mutation_p.S86C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	86	Ig-like 1.						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)			CGCTTGTCCAGATCCATTGGT	0.557000													8	100					0	0	0.000673444	0	0
FCAMR	83953	broad.mit.edu	37	1	207135760	207135760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:207135760C>T	ENST00000324852.4	-	5	924	c.450G>A	c.(448-450)tgG>tgA	p.W150*	FCAMR_ENST00000450945.2_Nonsense_Mutation_p.W150*|FCAMR_ENST00000400962.3_Nonsense_Mutation_p.W150*	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	105	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTGGCAGATCCATCTTGGGG	0.567000													36	22					0	0	0.000374591	0	0
TRIO	7204	broad.mit.edu	37	5	14482854	14482854	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:14482854C>T	ENST00000344204.4	+	46	6653	c.6629C>T	c.(6628-6630)cCg>cTg	p.P2210L	TRIO_ENST00000537187.1_Missense_Mutation_p.P2210L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2210	PH 2.				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|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			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)					TTCTCCATGCCGGGATTCCTG	0.488000													10	86					0	0	0.000442599	0	0
NPL	80896	broad.mit.edu	37	1	182794924	182794924	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:182794924C>T	ENST00000367554.3	+	10	1008	c.690C>T	c.(688-690)atC>atT	p.I230I	NPL_ENST00000367553.1_Silent_p.I249I|NPL_ENST00000367552.2_Silent_p.I205I|NPL_ENST00000367555.1_Silent_p.I205I|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000258317.2_Silent_p.I249I	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	249					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AGTTTTGTATCCAGAGATTTA	0.328000													36	62					0	0	0.00111076	0	0
ZNF85	7639	broad.mit.edu	37	19	21117843	21117843	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:21117843C>T	ENST00000328178.8	+	3	332	c.219C>T	c.(217-219)gcC>gcT	p.A73A	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000596476.1_Silent_p.A41A|ZNF85_ENST00000300540.3_Silent_p.A73A|ZNF85_ENST00000345030.6_Intron	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	73	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCATGGTGGCCAAACCCACAG	0.428000													8	10					0	0	0.000157383	0	0
SERPINB10	5273	broad.mit.edu	37	18	61600313	61600313	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:61600313T>G	ENST00000238508.3	+	7	724	c.665T>G	c.(664-666)aTg>aGg	p.M222R		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ATGATGTTTATGAAGAAAAAG	0.368000													6	67					0	0	3.59834e-05	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87453455	87453455	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:87453455A>G	ENST00000268616.4	-	6	785	c.568T>C	c.(568-570)Ttg>Ctg	p.L190L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	190					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)		TCATTTTTCAACACGTGAGAA	0.383000													10	64					0	0	0.000442599	0	0
PCDH15	65217	broad.mit.edu	37	10	55568492	55568492	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:55568492G>A	ENST00000395445.1	-	36	5712	c.5318C>T	c.(5317-5319)tCg>tTg	p.S1773L	PCDH15_ENST00000395440.1_Missense_Mutation_p.S707L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.S638L|PCDH15_ENST00000395446.1_Missense_Mutation_p.S969L|PCDH15_ENST00000395438.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTCCTGGCGACTTCTTTTG	0.478000										HNSCC(58;0.16)			7	5					0	0	0.000274275	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376701	8376701	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:8376701C>T	ENST00000538603.1	-	5	792	c.234G>A	c.(232-234)ggG>ggA	p.G78G	FAM90A1_ENST00000307435.6_Silent_p.G78G	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	78							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGTTTTCCTTCCCTTCCTTTT	0.552000													18	180					0	0	0.00074312	0	0
DNAH3	55567	broad.mit.edu	37	16	21078638	21078638	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:21078638C>T	ENST00000261383.3	-	24	3483	c.3484G>A	c.(3484-3486)Gat>Aat	p.D1162N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1162N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1162	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCAAGTAATCATTCAGCCCT	0.433000													14	46					0	0	0.000219431	0	0
HMGCS2	3158	broad.mit.edu	37	1	120300003	120300003	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:120300003G>A	ENST00000369406.3	-	5	958	c.909C>T	c.(907-909)ccC>ccT	p.P303P	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.P261P	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	303					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)		TCTTGCAAAAGGGTGTATGAA	0.522000													191	208					0	0	0.000781405	0	0
NEBL	10529	broad.mit.edu	37	10	21169773	21169773	+	Missense_Mutation	SNP	C	C	T	rs147430943		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:21169773C>T	ENST00000377122.4	-	5	826	c.430G>A	c.(430-432)Gag>Aag	p.E144K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.E144K|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	144					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAGGGGGCTCCTTCATGTGG	0.413000													17	81					0	0	0.00074312	0	0
AQR	9716	broad.mit.edu	37	15	35192853	35192853	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:35192853T>C	ENST00000156471.5	-	20	2438	c.2213A>G	c.(2212-2214)gAa>gGa	p.E738G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	738						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGCAGGGTCTTCTACAGTTAC	0.428000													16	48					0	0	0.000308642	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46926728	46926728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:46926728C>T	ENST00000258947.3	+	5	633	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	CALCOCO2_ENST00000508679.1_Nonsense_Mutation_p.Q106*|CALCOCO2_ENST00000448105.2_Nonsense_Mutation_p.Q202*|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000509507.1_Nonsense_Mutation_p.Q199*	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	178					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GGCTGAGCTCCAAAAGAAGCA	0.488000													15	90					0	0	0.000958276	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411075	32411075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:32411075C>T	ENST00000395388.2	+	3	551	c.442C>T	c.(442-444)Cga>Tga	p.R148*	HLA-DRA_ENST00000374982.5_Nonsense_Mutation_p.R123*	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	148	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CACGTGGCTTCGAAATGGAAA	0.527000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				18	88					0	0	0.000566183	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517829	158517829	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:158517829G>A	ENST00000302617.3	-	1	66	c.67C>T	c.(67-69)Cca>Tca	p.P23S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTCGTGTTGGAAACCCCAGA	0.448000													22	21					0	0	0.000375601	0	0
OR8K5	219453	broad.mit.edu	37	11	55927748	55927748	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55927748C>T	ENST00000313447.1	-	1	45	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTTGTGAGTTCCATCAGAATG	0.438000													30	74					0	0	0.000409698	0	0
EVC	2121	broad.mit.edu	37	4	5721001	5721001	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:5721001G>C	ENST00000382674.2	+	2	385	c.201G>C	c.(199-201)aaG>aaC	p.K67N	EVC_ENST00000509451.1_Missense_Mutation_p.K67N|EVC_ENST00000264956.6_Missense_Mutation_p.K67N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	67					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATCTGCTCAAGAATTTGGAGT	0.517000													20	127					0	0	0.000229342	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522594	96522594	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:96522594G>A	ENST00000371321.3	+	1	214	c.132G>A	c.(130-132)caG>caA	p.Q44Q	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	44					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATATCCTACAGATAGATATTA	0.408000													24	36					0	0	0.00106085	0	0
BRDT	676	broad.mit.edu	37	1	92457852	92457852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:92457852G>A	ENST00000370389.2	+	14	2801	c.1877G>A	c.(1876-1878)gGa>gAa	p.G626E	BRDT_ENST00000394530.3_Missense_Mutation_p.G653E|BRDT_ENST00000402388.1_Missense_Mutation_p.G699E|BRDT_ENST00000362005.3_Missense_Mutation_p.G699E|BRDT_ENST00000399546.2_Missense_Mutation_p.G699E	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CCGCCTGAAGGAAGAACAGGC	0.289000													8	21					0	0	0.000673444	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290861	141290861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:141290861C>T	ENST00000247452.3	-	3	1260	c.913G>A	c.(913-915)Gcc>Acc	p.A305T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	305	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGAATGGGCTCTCGGACCC	0.473000										HNSCC(46;0.14)			18	78					0	0	0.000566183	0	0
OAS3	4940	broad.mit.edu	37	12	113403667	113403667	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:113403667C>T	ENST00000228928.7	+	12	2701	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	841	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGATCATCTCCGAGATCCGA	0.597000													5	19					0	0	3.59834e-05	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720842	135720842	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:135720842G>A	ENST00000264977.3	+	2	1119	c.502G>A	c.(502-504)Gat>Aat	p.D168N	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	168					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTATAACAACGATGGGAACGC	0.433000													15	68					0	0	0.000422831	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142168486G>A	ENST00000454561.2	-	0	437																											ATCTAGGAGGGAAGTTTCCTC	0.527000													20	80					0	0	0.000295444	0	0
CEPT1	10390	broad.mit.edu	37	1	111725439	111725439	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:111725439C>T	ENST00000545121.1	+	7	1073	c.865C>T	c.(865-867)Cct>Tct	p.P289S	CEPT1_ENST00000357172.4_Missense_Mutation_p.P289S|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	289						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGTCCTTTCTCCTTTTCTCCA	0.383000													16	64					0	0	0.000175454	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43800282	43800282	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr21:43800282T>C	ENST00000291532.3	-	10	1947	c.992A>G	c.(991-993)aAc>aGc	p.N331S	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.N331S|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.N329S|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.N415S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	331	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ATCGGGGAAGTTCTCTTCAGA	0.522000													12	18					0	0	0.000308642	0	0
DDX60L	91351	broad.mit.edu	37	4	169374306	169374306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:169374306C>T	ENST00000511577.1	-	8	1212	c.965G>A	c.(964-966)tGg>tAg	p.W322*	DDX60L_ENST00000260184.7_Nonsense_Mutation_p.W322*|DDX60L_ENST00000505890.1_Nonsense_Mutation_p.W322*			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	322							ATP binding|ATP-dependent helicase activity|RNA binding	p.W322_L330delWIRNSDSFL(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCCTAATCCAAGAGCATGT	0.388000													6	40					0	0	0.000274275	0	0
ATXN7	6314	broad.mit.edu	37	3	63973764	63973764	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:63973764C>T	ENST00000398590.3	+	9	1678	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	ATXN7_ENST00000538065.1_Silent_p.V375V|ATXN7_ENST00000487717.1_Silent_p.V375V|ATXN7_ENST00000484332.1_Silent_p.V230V|ATXN7_ENST00000295900.6_Silent_p.V375V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	375	SCA7.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCAGGGCTGTCCAGGGTAGAA	0.433000													34	129					0	0	0.000814825	0	0
ASXL3	80816	broad.mit.edu	37	18	31320396	31320396	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:31320396C>T	ENST00000269197.5	+	11	3028	c.3028C>T	c.(3028-3030)Ccc>Tcc	p.P1010S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1010					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						ACCAAGGGTTCCCCCTCTCAA	0.413000													4	11					0	0	0.00024832	0	0
CYTIP	9595	broad.mit.edu	37	2	158272369	158272369	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:158272369C>T	ENST00000264192.3	-	8	1021	c.900G>A	c.(898-900)agG>agA	p.R300R	CYTIP_ENST00000540637.1_Silent_p.R194R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	300	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCCGGTTCCTCCTTGAAGATG	0.547000													17	73					0	0	0.000132079	0	0
SYNE1	23345	broad.mit.edu	37	6	152644784	152644784	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:152644784G>A	ENST00000367255.5	-	82	16347	c.15746C>T	c.(15745-15747)aCt>aTt	p.T5249I	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5178I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4942I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5178I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5249I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5249					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAAGAAGAGTTAAGAGCTC	0.493000										HNSCC(10;0.0054)			28	32					0	0	0.000184323	0	0
MAML2	84441	broad.mit.edu	37	11	95826434	95826434	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:95826434C>G	ENST00000524717.1	-	2	2045	c.761G>C	c.(760-762)gGc>gCc	p.G254A		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	254					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAGGCCATTGCCAGGAGAATG	0.473000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								21	33					0	0	0.000229342	0	0
TPRG1L	127262	broad.mit.edu	37	1	3542404	3542404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:3542404G>A	ENST00000378344.2	+	3	492	c.421G>A	c.(421-423)Gac>Aac	p.D141N	TPRG1L_ENST00000344579.5_Intron	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	141						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CAACGCAGTAGACACCATTTC	0.532000													11	33					0	0	0.000673444	0	0
COPS2	9318	broad.mit.edu	37	15	49426144	49426144	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:49426144G>A	ENST00000388901.5	-	8	950	c.877C>T	c.(877-879)Cca>Tca	p.P293S	COPS2_ENST00000542928.1_Missense_Mutation_p.P229S|COPS2_ENST00000299259.6_Missense_Mutation_p.P300S	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	293	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GAGTCAAATGGATTTATTCCC	0.313000													11	48					0	0	0.00010058	0	0
TECRL	253017	broad.mit.edu	37	4	65147222	65147222	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:65147222G>A	ENST00000381210.3	-	10	998	c.888C>T	c.(886-888)ttC>ttT	p.F296F	TECRL_ENST00000507440.1_Silent_p.F296F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	296					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						ATGAAACCAGGAAAAACATCC	0.333000													10	23					0	0	0.000151284	0	0
MUC16	94025	broad.mit.edu	37	19	9065230	9065230	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9065230G>A	ENST00000397910.4	-	3	22419	c.22216C>T	c.(22216-22218)Cct>Tct	p.P7406S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7408	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						GAAGAAACAGGAGAAGGTGAG	0.527000													6	22					0	0	3.59834e-05	0	0
KMT2A	4297	broad.mit.edu	37	11	118343920	118343920	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:118343920C>T	ENST00000534358.1	+	3	2069	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	KMT2A_ENST00000389506.5_Silent_p.L682L|KMT2A_ENST00000354520.4_Silent_p.L682L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTTCGCCACTCCATTCTGGAA	0.473000													24	21					0	0	0.000375601	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238124	26238124	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:26238124C>T	ENST00000519902.1	-	0	1824																											AGTTAAACACCTCTGGTTTTT	0.388000													10	17					0	0	0.000673444	0	0
AOC4P	90586	broad.mit.edu	37	17	41020068	41020068	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:41020068G>A	ENST00000585538.1	+	0	907					NR_002773.1																						CCTGCCCGCTGGACTATCCAG	0.587000													6	23					0	0	0.000157383	0	0
NOX5	79400	broad.mit.edu	37	15	69318985	69318985	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69318985G>A	ENST00000260364.5	+	3	415	c.114G>A	c.(112-114)gtG>gtA	p.V38V	NOX5_ENST00000455873.3_Silent_p.V49V|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000388866.3_Silent_p.V56V|NOX5_ENST00000448182.3_Silent_p.V38V|NOX5_ENST00000530406.2_Silent_p.V56V			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	56	EF-hand 1.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTCTGCATGTGAAAGAGGCAA	0.537000													15	54					0	0	0.00074312	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737564	62737564	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:62737564G>A	ENST00000369768.1	-	1	960	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	207						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)					CCTTGAACCAGACCTGCTCGG	0.627000													7	40					0	0	0.000157383	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631733	22631733	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:22631733G>A	ENST00000390458.3	+	0	436																											CTCCCAGCCTGGAGACTCTGC	0.498000													8	26					0	0	0.000673444	0	0
ABCA4	24	broad.mit.edu	37	1	94546147	94546147	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:94546147C>T	ENST00000370225.3	-	8	1072	c.986G>A	c.(985-987)gGa>gAa	p.G329E	ABCA4_ENST00000535735.1_Missense_Mutation_p.G329E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	329					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)		AGAGCCACCTCCCTCGGGGTA	0.517000													27	56					0	0	0.000339439	0	0
CFHR1	3078	broad.mit.edu	37	1	196796039	196796039	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:196796039A>G	ENST00000320493.5	+	3	422	c.334A>G	c.(334-336)Att>Gtt	p.I112V	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.I112V|CFHR1_ENST00000498248.1_3'UTR	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	112	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TACTGTGCAAATTATTTGCAA	0.423000													8	90					0	0	0.000274275	0	0
MYOM3	127294	broad.mit.edu	37	1	24384029	24384029	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:24384029C>T	ENST00000330966.7	-	37	4310	c.4148G>A	c.(4147-4149)cGa>cAa	p.R1383Q	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.R1380Q|MYOM3_ENST00000338909.5_Missense_Mutation_p.R273Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	1380	Ig-like C2-type 4.									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)		CATGCGGTATCGGTCAAGGAA	0.527000													7	26					0	0	8.12818e-05	0	0
TLR7	51284	broad.mit.edu	37	X	12905004	12905004	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:12905004C>T	ENST00000380659.3	+	3	1516	c.1377C>T	c.(1375-1377)gtC>gtT	p.V459V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	459					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AACCCCAGGTCCTGGAACAAT	0.368000													30	134					0	0	0.000409698	0	0
MEPE	56955	broad.mit.edu	37	4	88766238	88766238	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:88766238C>T	ENST00000497649.2	+	6	524	c.146C>T	c.(145-147)tCc>tTc	p.S49F	MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S104F|MEPE_ENST00000361056.3_Missense_Mutation_p.S73F|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.S73F|MEPE_ENST00000560249.1_5'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	73					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAGATTTGTCCCTTTCTGAA	0.313000													14	39					0	0	0.000308642	0	0
NOX5	79400	broad.mit.edu	37	15	69335023	69335023	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69335023C>T	ENST00000260364.5	+	11	1772	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.R474W|NOX5_ENST00000388866.3_Missense_Mutation_p.R509W|NOX5_ENST00000448182.3_Missense_Mutation_p.R463W|NOX5_ENST00000530406.2_Missense_Mutation_p.R481W			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	509	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTGCACATTCGGTCCCAAGG	0.567000													7	31					0	0	0.000157383	0	0
TRIM33	51592	broad.mit.edu	37	1	114952902	114952902	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:114952902G>A	ENST00000358465.2	-	12	2181	c.2098C>T	c.(2098-2100)Cta>Tta	p.L700L	TRIM33_ENST00000369543.2_Silent_p.L700L|TRIM33_ENST00000450349.2_Silent_p.L332L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	700					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCTACTTAGTAGATTATCT	0.413000			T	RET	papillary thyroid								16	43					0	0	0.000566183	0	0
DGAT1	8694	broad.mit.edu	37	8	145540765	145540765	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:145540765A>G	ENST00000332324.4	-	15	1441	c.1168T>C	c.(1168-1170)Tac>Cac	p.Y390H	DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	390					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ATGGGCTTGTAGAAGTGTCTG	0.592000													36	42					0	0	0.000814825	0	0
CYTH4	27128	broad.mit.edu	37	22	37688692	37688692	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:37688692A>G	ENST00000248901.6	+	2	237	c.50A>G	c.(49-51)gAa>gGa	p.E17G	CYTH4_ENST00000405206.3_Missense_Mutation_p.E17G|CYTH4_ENST00000402997.1_Missense_Mutation_p.E17G|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	17					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGGGAGACGGAAGAGTTACAG	0.607000													48	74					0	0	0.000781405	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079556	1079556	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:1079556G>A	ENST00000264930.5	-	10	1396	c.1353C>T	c.(1351-1353)atC>atT	p.I451I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	451					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGTGGGGATGGACTTCT	0.587000													22	76					0	0	0.000184323	0	0
TTN	7273	broad.mit.edu	37	2	179584511	179584511	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179584511C>T	ENST00000589042.1	-	82	23932	c.23708G>A	c.(23707-23709)gGa>gAa	p.G7903E	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7586E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G6659E|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7586	Ig-like 61.						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)			AAAAGGATTTCCAGTAGTGAC	0.408000													16	23					0	0	0.000422831	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266932	18266932	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:18266932G>A	ENST00000377369.2	+	5	1126	c.853G>A	c.(853-855)Gat>Aat	p.D285N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.D285N|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D285N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D151N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	285					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATAACCCATGATCAGGACTA	0.378000													18	64					0	0	0.000566183	0	0
SETD3	84193	broad.mit.edu	37	14	99879362	99879362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:99879362G>A	ENST00000331768.5	-	8	934	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	SETD3_ENST00000436070.2_Missense_Mutation_p.P259S|SETD3_ENST00000329331.3_Missense_Mutation_p.P259S	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	259	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCCTCTGTGGGAATTTGGTTT	0.463000													8	54					0	0	0.000274275	0	0
ASPH	444	broad.mit.edu	37	8	62479730	62479730	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:62479730G>A	ENST00000541428.1	-	17	1370	c.1210C>T	c.(1210-1212)Cta>Tta	p.L404L	ASPH_ENST00000379454.4_Silent_p.L433L	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	433					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ATCTTACCTAGAAATTGTTGC	0.453000													4	42					0	0	0.00024832	0	0
OR51V1	283111	broad.mit.edu	37	11	5221880	5221880	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5221880C>T	ENST00000321255.1	-	1	50	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T17T(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGAATTCGTGCTGGTGC	0.428000													21	52					0	0	0.000229342	0	0
PMS2	5395	broad.mit.edu	37	7	6017358	6017358	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:6017358G>A	ENST00000265849.7	-	14	2411	c.2306C>T	c.(2305-2307)tCc>tTc	p.S769F	PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.S663F|PMS2_ENST00000382321.4_Missense_Mutation_p.S368F	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	769					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTGGCAAGGAAATCAGTTT	0.463000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	28					0	0	0.000375601	0	0
TPR	7175	broad.mit.edu	37	1	186332521	186332521	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:186332521G>C	ENST00000367478.3	-	5	780	c.484C>G	c.(484-486)Ctt>Gtt	p.L162V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	162					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTAACTGAAGTTCACCCTTT	0.299000			T	NTRK1	papillary thyroid								5	44					0	0	3.59834e-05	0	0
OR2F2	135948	broad.mit.edu	37	7	143633249	143633249	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:143633249C>T	ENST00000408955.2	+	1	991	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TAGAGAAATTCTCTGGGTTAA	0.423000													12	27					0	0	0.000219431	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471470	146471470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:146471470G>A	ENST00000361727.3	+	2	721	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	69	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAACAAGAGAGGAGGTAAGCC	0.388000										HNSCC(39;0.1)			12	35					0	0	0.00010058	0	0
MYH9	4627	broad.mit.edu	37	22	36737465	36737465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:36737465G>A	ENST00000216181.5	-	3	670	c.440C>T	c.(439-441)cCc>cTc	p.P147L	MYH9_ENST00000401701.1_Missense_Mutation_p.P147L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	147	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GATGTGAGGGGGCATCTCGTG	0.532000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				17	123					0	0	0.000566183	0	0
UTRN	7402	broad.mit.edu	37	6	144759887	144759887	+	Silent	SNP	C	C	T	rs114118949	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:144759887C>T	ENST00000367545.3	+	11	1248	c.1248C>T	c.(1246-1248)caC>caT	p.H416H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	416	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)		ACAGGCTGCACGATGTGCTGA	0.517000													16	49					0	0	0.000958276	0	0
PON1	5444	broad.mit.edu	37	7	94937327	94937327	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:94937327C>T	ENST00000222381.3	-	6	925	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	PON1_ENST00000542556.1_Missense_Mutation_p.G232S	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	232					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACATACTTGCCATCGGGTGAA	0.363000													9	27					0	0	0.000442599	0	0
ZC3H6	376940	broad.mit.edu	37	2	113069452	113069452	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:113069452G>A	ENST00000409871.1	+	5	1086	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	ZC3H6_ENST00000343936.4_Missense_Mutation_p.E229K	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	229							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAACGAAAAGAACGTGGGGG	0.368000													12	30					0	0	0.00010058	0	0
TJP3	27134	broad.mit.edu	37	19	3736220	3736220	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:3736220G>A	ENST00000541714.2	+	11	1647	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	TJP3_ENST00000589378.1_Silent_p.R404R|TJP3_ENST00000262968.9_Silent_p.R428R|TJP3_ENST00000539908.2_Silent_p.R359R|TJP3_ENST00000382008.3_Silent_p.R409R|TJP3_ENST00000587686.1_Silent_p.R414R	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	409	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGCTGCGGCTGGCAGGGG	0.677000													9	17					0	0	0.000673444	0	0
SALL4	57167	broad.mit.edu	37	20	50408030	50408030	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:50408030G>A	ENST00000217086.4	-	2	1103	c.992C>T	c.(991-993)cCg>cTg	p.P331L	SALL4_ENST00000395997.3_Missense_Mutation_p.P331L|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	331					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAAGCGCTCGGGAGGCGGGA	0.642000													6	25					0	0	8.12818e-05	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98369571	98369571	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:98369571C>T	ENST00000339364.5	-	14	2187	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E289K|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E512K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	690						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTCCAAACTCCACTTTTGCA	0.532000													106	137					0	0	0.000781405	0	0
TBP	6908	broad.mit.edu	37	6	170871049	170871049	+	Silent	SNP	G	G	A	rs10592951		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:170871049G>A	ENST00000392092.2	+	3	504	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TBP_ENST00000230354.6_Silent_p.Q75Q|TBP_ENST00000540980.1_Silent_p.Q55Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	75	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcaacagcagcagcagc	0.567000													4	20					0	0	0.000602214	0	0
GNAS	2778	broad.mit.edu	37	20	57429122	57429122	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:57429122C>T	ENST00000371100.4	+	1	1354	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P268S|GNAS_ENST00000371102.4_Missense_Mutation_p.P268S|GNAS_ENST00000306120.3_Silent_p.L204L|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCCTCACTCCCGCCGCGAA	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	14					0	0	0.000602214	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764874	92764874	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:92764874C>T	ENST00000318238.4	-	5	1627	c.411G>A	c.(409-411)atG>atA	p.M137I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M137I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M137I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	137										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)			CATTTTCTTTCATAAGAATTG	0.318000													11	38					0	0	0.000978159	0	0
SUV420H1	51111	broad.mit.edu	37	11	67942631	67942631	+	Silent	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:67942631T>G	ENST00000304363.4	-	5	750	c.397A>C	c.(397-399)Agg>Cgg	p.R133R	SUV420H1_ENST00000402185.2_Silent_p.R110R|SUV420H1_ENST00000401547.2_Silent_p.R133R|SUV420H1_ENST00000405515.1_Silent_p.R133R|SUV420H1_ENST00000402789.1_Silent_p.R133R	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCTTCCTGCCTTCCTTTAATA	0.398000													5	33					0	0	0.000602214	0	0
TRANK1	9881	broad.mit.edu	37	3	36897057	36897057	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:36897057C>T	ENST00000429976.2	-	12	4271	c.4024G>A	c.(4024-4026)Gaa>Aaa	p.E1342K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E792K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E792K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1342					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCCGGTCTTCCTTGAAATTG	0.448000													35	99					0	0	0.000692331	0	0
OR11H4	390442	broad.mit.edu	37	14	20711921	20711921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:20711921C>T	ENST00000315409.2	+	1	1024	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CGTCAAAATTCGTGAGCCAAA	0.398000													5	51					0	0	0.000602214	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651908	121651908	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:121651908C>T	ENST00000393386.2	+	12	3219	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	936					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATGAGGGCTCCCAACACATCT	0.453000													22	66					0	0	0.00047179	0	0
C10orf71	118461	broad.mit.edu	37	10	50531539	50531539	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:50531539C>T	ENST00000374144.3	+	3	1237	c.949C>T	c.(949-951)Cct>Tct	p.P317S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P317S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	317										endometrium(1)	1						AGAACCCTGTCCTCCTGAGCG	0.577000													12	32					0	0	0.000219431	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253869	81253869	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:81253869C>T	ENST00000599697.1	-	1	106	c.107G>A	c.(106-108)aGa>aAa	p.R36K	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	36	C-type lectin.				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						GCAAGCATCTCTGAAGGCCAC	0.562000													21	56					0	0	0.000175454	0	0
CHD7	55636	broad.mit.edu	37	8	61654698	61654698	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:61654698C>T	ENST00000423902.2	+	2	1186	c.707C>T	c.(706-708)tCc>tTc	p.S236F	CHD7_ENST00000525508.1_Missense_Mutation_p.S236F|CHD7_ENST00000524602.1_Missense_Mutation_p.S236F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	236					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCCACTTGTCCCACGTGCCC	0.572000													17	57					0	0	0.000175454	0	0
ZNF662	389114	broad.mit.edu	37	3	42950293	42950293	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:42950293C>T	ENST00000541208.1	+	3	412	c.43C>T	c.(43-45)Cca>Tca	p.P15S	ZNF662_ENST00000430067.2_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.P75S|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.P15S|ZNF662_ENST00000422021.1_Missense_Mutation_p.P15S			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGCAGCATTTCCATTTCCCAA	0.577000													41	123					0	0	0.000781405	0	0
OR51A4	401666	broad.mit.edu	37	11	4967442	4967442	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4967442T>G	ENST00000380373.2	-	1	914	c.889A>C	c.(889-891)Act>Cct	p.T297P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTGTTTAGTTTTTACACAA	0.393000													11	122					0	0	0.000219431	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140685	140685	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140685C>T	ENST00000283426.6	+	1	313	c.263C>T	c.(262-264)cCc>cTc	p.P88L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	88					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)		GAAAGGGCACCCAGAAGCTCC	0.662000													7	13					0	0	0.000442599	0	0
RPAP1	26015	broad.mit.edu	37	15	41813125	41813125	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:41813125G>A	ENST00000304330.4	-	22	3375	c.3259C>T	c.(3259-3261)Ctg>Ttg	p.L1087L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1087	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)		GGCAGTAGCAGGGTTGGGACT	0.657000													24	48					0	0	0.000720815	0	0
SYMPK	8189	broad.mit.edu	37	19	46326660	46326660	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:46326660G>A	ENST00000245934.7	-	20	2914	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	890					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGGGATGAGGAAGCGGACGT	0.627000													20	34					0	0	0.000375601	0	0
CAP2	10486	broad.mit.edu	37	6	17543150	17543150	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:17543150C>T	ENST00000229922.2	+	10	1617	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	CAP2_ENST00000493172.1_Missense_Mutation_p.S102L|CAP2_ENST00000465994.1_Missense_Mutation_p.S298L|CAP2_ENST00000489374.1_Missense_Mutation_p.S250L|CAP2_ENST00000378990.2_Missense_Mutation_p.S336L	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	362	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGCGAAAAATCAACTATTCAG	0.338000													48	87					0	0	0.000781405	0	0
KRT82	3888	broad.mit.edu	37	12	52788966	52788966	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:52788966G>A	ENST00000257974.2	-	9	1412	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	445	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGGCGCCTTTGGAGCTGCTCA	0.627000													9	12					0	0	0.000978159	0	0
PRRT3	285368	broad.mit.edu	37	3	9991023	9991023	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:9991023C>T	ENST00000412055.1	-	2	906	c.777G>A	c.(775-777)gaG>gaA	p.E259E	PRRT3_ENST00000411976.2_Silent_p.E259E|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	259	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGTACACCACCTCAACTGGGG	0.617000													12	56					0	0	0.000422831	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138613	101138613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:101138613G>A	ENST00000458570.1	-	9	2603	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	ZMAT1_ENST00000540921.1_Nonsense_Mutation_p.R596*|ZMAT1_ENST00000372782.3_Nonsense_Mutation_p.R596*|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	425						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTTTTTTCGATGCTTAAGC	0.378000													12	28					0	0	0.000422831	0	0
ZNF511	118472	broad.mit.edu	37	10	135165827	135165827	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:135165827C>T	ENST00000368554.4	+	8	838	c.816C>T	c.(814-816)taC>taT	p.Y272Y	PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000423766.1_Silent_p.Y114Y|PRAP1_ENST00000433452.2_Silent_p.Y113Y|PRAP1_ENST00000458230.1_Silent_p.Y104Y			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACAGCCTGTACCACCCTCCGC	0.627000													10	90					0	0	0.000978159	0	0
FGF23	8074	broad.mit.edu	37	12	4479756	4479756	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4479756T>C	ENST00000237837.1	-	3	654	c.509A>G	c.(508-510)aAc>aGc	p.N170S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	170					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TATGGGGGTGTTGAAGTGAAT	0.682000													14	42					0	0	0.000566183	0	0
LOXL2	4017	broad.mit.edu	37	8	23160888	23160888	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:23160888A>G	ENST00000389131.3	-	11	2272	c.1903T>C	c.(1903-1905)Ttc>Ctc	p.F635L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	635	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TAGTGGGTGAACACCTCCATG	0.567000													24	38					0	0	0.000720815	0	0
PAX2	5076	broad.mit.edu	37	10	102566256	102566256	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:102566256G>A	ENST00000370296.2	+	7	1305	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	PAX2_ENST00000556085.1_Missense_Mutation_p.R228Q|PAX2_ENST00000355243.3_Missense_Mutation_p.R229Q|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Missense_Mutation_p.R229Q|PAX2_ENST00000428433.1_Missense_Mutation_p.R252Q			Q02962	PAX2_HUMAN	paired box 2	252					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AAGCACTTGCGAGCTGACACC	0.552000													65	225					0	0	0.000781405	0	0
OR51B4	79339	broad.mit.edu	37	11	5323122	5323122	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5323122C>T	ENST00000380224.1	-	1	104	c.55G>A	c.(55-57)Gag>Aag	p.E19K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAACTGCCTCTGAGCCCAAG	0.463000											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	80					0	0	0.000878237	0	0
CDX4	1046	broad.mit.edu	37	X	72673379	72673379	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:72673379C>T	ENST00000373514.2	+	2	529	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGAAAAGTATCGTGTAGTTTA	0.358000													7	20					0	0	0.000274275	0	0
CPSF3L	54973	broad.mit.edu	37	1	1249237	1249237	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:1249237A>G	ENST00000540437.1	-	11	1305	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	CPSF3L_ENST00000419704.1_Missense_Mutation_p.Y177H|CPSF3L_ENST00000545578.1_Missense_Mutation_p.Y249H|CPSF3L_ENST00000435064.1_Missense_Mutation_p.Y278H|CPSF3L_ENST00000411962.1_Missense_Mutation_p.Y180H|CPSF3L_ENST00000450926.2_Missense_Mutation_p.Y256H|CPSF3L_ENST00000421495.2_Missense_Mutation_p.Y20H|CPSF3L_ENST00000462432.1_5'UTR	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	278						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGCTTGTAGTAGTGGTTGGCC	0.577000													6	62					0	0	3.59834e-05	0	0
DNMT1	1786	broad.mit.edu	37	19	10259681	10259681	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:10259681G>A	ENST00000340748.4	-	26	2786	c.2551C>T	c.(2551-2553)Ccc>Tcc	p.P851S	DNMT1_ENST00000359526.4_Missense_Mutation_p.P867S|DNMT1_ENST00000540357.1_Missense_Mutation_p.P851S			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	851	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGGACTCGGGATCCATGCCT	0.592000													5	35					0	0	3.59834e-05	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589962	140589962	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140589962G>A	ENST00000239450.2	+	1	1672	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D158N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		495	Cadherin 5.				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)			GCCGTCCCAGGACCCGCACCT	0.662000													12	73					0	0	0.00010058	0	0
ADAM29	11086	broad.mit.edu	37	4	175897899	175897899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:175897899G>A	ENST00000359240.3	+	5	1893	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	ADAM29_ENST00000445694.1_Missense_Mutation_p.G408E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G408E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G408E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	408	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGAAGAAGGAGAAGAGTGT	0.428000													24	87					0	0	0.000586117	0	0
LRP1B	53353	broad.mit.edu	37	2	141609313	141609313	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:141609313C>A	ENST00000389484.3	-	28	5590	c.4619G>T	c.(4618-4620)tGc>tTc	p.C1540F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1540					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)		CATGTGAGAGCAGGGGCCTTT	0.443000										TSP Lung(27;0.18)			16	71					2.94398e-08	3.15519e-07	0.000958276	1	0
LSM3	27258	broad.mit.edu	37	3	14239577	14239577	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:14239577T>C	ENST00000306024.3	+	4	773	c.270T>C	c.(268-270)gaT>gaC	p.D90D		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	90					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						TCCGGGGAGATGGCGTTGTCC	0.413000													25	60					0	0	0.00106085	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211505	81211505	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:81211505G>A	ENST00000599697.1	-	14	2343	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	782	REJ.				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						CCCTCCTCTGGGGCAATAGTG	0.592000													8	52					0	0	0.000157383	0	0
OR4K5	79317	broad.mit.edu	37	14	20389309	20389309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:20389309C>T	ENST00000315915.4	+	1	569	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGATCTTCCTCGAGTCAC	0.423000													13	107					0	0	0.000219431	0	0
SQRDL	58472	broad.mit.edu	37	15	45965918	45965918	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:45965918C>T	ENST00000260324.7	+	5	959	c.573C>T	c.(571-573)atC>atT	p.I191I	RP11-96O20.4_ENST00000564080.1_Silent_p.I191I|SQRDL_ENST00000568606.1_Silent_p.I191I	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	191							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GCAATGCCATCTTCACCTTCC	0.463000													10	79					0	0	0.000442599	0	0
ZFP37	7539	broad.mit.edu	37	9	115805958	115805958	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:115805958C>T	ENST00000374227.3	-	4	967	c.940G>A	c.(940-942)Gtt>Att	p.V314I	ZFP37_ENST00000555206.1_Missense_Mutation_p.V315I|ZFP37_ENST00000553380.1_Missense_Mutation_p.V329I			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	314						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGTATGAACTCTCTGATGG	0.403000													7	81					0	0	8.12818e-05	0	0
ASXL2	55252	broad.mit.edu	37	2	25982395	25982395	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:25982395A>G	ENST00000435504.4	-	9	1188	c.895T>C	c.(895-897)Tgc>Cgc	p.C299R	ASXL2_ENST00000272341.4_Missense_Mutation_p.C39R|ASXL2_ENST00000336112.4_Missense_Mutation_p.C271R|ASXL2_ENST00000404843.1_Missense_Mutation_p.C39R			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCTGGCAATCTCCAGGA	0.418000													53	105					0	0	0.000781405	0	0
COIL	8161	broad.mit.edu	37	17	55027324	55027324	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:55027324C>A	ENST00000240316.4	-	2	1313	c.1279G>T	c.(1279-1281)Gta>Tta	p.V427L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	427	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTTCTATTTACAACACAGGAA	0.438000													18	64					3.51602e-12	3.79012e-11	0.000132079	1	0
GRM3	2913	broad.mit.edu	37	7	86394822	86394822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:86394822G>A	ENST00000361669.2	+	2	1460	c.361G>A	c.(361-363)Gat>Aat	p.D121N	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.D121N|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D119N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	121					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACAAAAGTGGATGAAGCTGA	0.438000													5	28					0	0	0.000602214	0	0
NLRP8	126205	broad.mit.edu	37	19	56499234	56499234	+	Silent	SNP	C	C	A	rs142444217	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:56499234C>A	ENST00000291971.3	+	10	3173	c.3102C>A	c.(3100-3102)ccC>ccA	p.P1034P	NLRP8_ENST00000590542.1_Silent_p.P1015P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1034						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCACCCACCCGACTTCACGG	0.502000													12	64					2.61681e-11	2.81103e-10	0.000219431	1	0
FGF6	2251	broad.mit.edu	37	12	4554735	4554735	+	Translation_Start_Site	SNP	A	A	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4554735A>C	ENST00000228837.2	-	1	45	c.2T>G	c.(1-3)aTg>aGg	p.M1R		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	1					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCCAGGGCCATCCACCTTGC	0.562000													4	13					0	0	0.00024832	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350500	89350500	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:89350500T>G	ENST00000301030.4	-	9	2910	c.2450A>C	c.(2449-2451)tAt>tCt	p.Y817S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y817S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	817	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTGTTACAATATTCGTCAAA	0.343000													4	30					0	0	0.00024832	0	0
GLRA3	8001	broad.mit.edu	37	4	175649721	175649721	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:175649721G>A	ENST00000274093.3	-	4	898	c.396C>T	c.(394-396)ttC>ttT	p.F132F	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Silent_p.F132F	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	132					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.F132L(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CATTGGCAAAGAACAAATCAG	0.408000													15	65					0	0	0.000422831	0	0
GBA3	57733	broad.mit.edu	37	4	22749499	22749499	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:22749499C>T	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCAGAATTCACTGAAGAAG	0.403000													5	15					0	0	3.59834e-05	0	0
TTN	7273	broad.mit.edu	37	2	179579889	179579889	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179579889G>A	ENST00000589042.1	-	90	26248	c.26024C>T	c.(26023-26025)tCt>tTt	p.S8675F	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8358F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7431F|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8358	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATACCAAGAAACGTGAAA	0.453000													36	105					0	0	0.00111076	0	0
LILRA5	353514	broad.mit.edu	37	19	54818743	54818743	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:54818743C>T	ENST00000301219.3	-	7	974	c.855G>A	c.(853-855)caG>caA	p.Q285Q	LILRA5_ENST00000346508.3_Silent_p.Q273Q	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	285					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGCCAATCCTGAAATATCA	0.527000													36	49					0	0	0.00058488	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125836892	125836892	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:125836892G>A	ENST00000393434.2	-	17	2287	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.I656I|ALDH1L1_ENST00000452905.2_Silent_p.I545I|ALDH1L1_ENST00000472186.1_Silent_p.I646I	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	646	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTGTGAACCCGATTTTCCTCA	0.637000													6	29					0	0	0.000157383	0	0
SLC1A3	6507	broad.mit.edu	37	5	36684074	36684074	+	Silent	SNP	G	G	A	rs140281779		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:36684074G>A	ENST00000265113.4	+	9	1874	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Intron	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	466					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ACGACATCACGCTCATCATCG	0.597000													20	104					0	0	0.000295444	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323163	79323163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:79323163C>T	ENST00000428286.1	-	8	4150	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1343K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1343					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCGATCACCTCCTCTTCATCA	0.512000													17	41					0	0	0.000958276	0	0
IGLV5-52	28779	broad.mit.edu	37	22	22673458	22673458	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:22673458C>T	ENST00000390289.2	+	0	256				LL22NC03-80A10.6_ENST00000426066.1_RNA																							TCTGGAGTTCCCAGCCGCTTC	0.537000													27	62					0	0	0.000878237	0	0
ROBO1	6091	broad.mit.edu	37	3	78676597	78676597	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:78676597G>A	ENST00000436010.2	-	24	4629	c.3632C>T	c.(3631-3633)cCa>cTa	p.P1211L	ROBO1_ENST00000464233.1_Missense_Mutation_p.P1250L|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1205L|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1150L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1250					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|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			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)		CACGGCAGCTGGAGAAGAAGC	0.557000													7	11					0	0	0.000157383	0	0
ZNF577	84765	broad.mit.edu	37	19	52376878	52376878	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:52376878T>C	ENST00000301399.5	-	7	730	c.365A>G	c.(364-366)aAg>aGg	p.K122R	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTGTCACGCTTGATATGGAG	0.393000													10	80					0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82595332	82595332	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:82595332C>T	ENST00000423517.2	-	4	4109	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1258K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1197					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						TTCTGTTCTTCTGGGGCTGAT	0.413000													47	170					0	0	0.000781405	0	0
HEPH	9843	broad.mit.edu	37	X	65479996	65479996	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:65479996G>A	ENST00000519389.1	+	19	3432	c.3253G>A	c.(3253-3255)Gtt>Att	p.V1085I	HEPH_ENST00000441993.2_Missense_Mutation_p.V1034I|HEPH_ENST00000343002.2_Missense_Mutation_p.V1031I|HEPH_ENST00000419594.1_Missense_Mutation_p.V842I|HEPH_ENST00000374727.3_Missense_Mutation_p.V1034I|HEPH_ENST00000336279.5_Missense_Mutation_p.V764I			Q9BQS7	HEPH_HUMAN	hephaestin	1031	Plastocyanin-like 6.				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						GACTTTTGAGGTTGTGGAGAT	0.522000													12	37					0	0	0.00010058	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908049	12908049	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:12908049C>T	ENST00000317869.6	-	2	319	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCCTCCACATCCGATTTCTTG	0.468000													13	100					0	0	0.00010058	0	0
DENND5A	23258	broad.mit.edu	37	11	9171741	9171741	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:9171741G>A	ENST00000328194.3	-	15	2942	c.2622C>T	c.(2620-2622)atC>atT	p.I874I	DENND5A_ENST00000527700.1_Silent_p.I217I|DENND5A_ENST00000530044.1_Silent_p.I874I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	874	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGATTTCCCCGATGTTCTGGA	0.488000													26	90					0	0	0.000491102	0	0
C9orf171	389799	broad.mit.edu	37	9	135374771	135374771	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:135374771G>C	ENST00000343036.2	+	4	464	c.416G>C	c.(415-417)tGg>tCg	p.W139S	C9orf171_ENST00000393215.3_Missense_Mutation_p.W103S|C9orf171_ENST00000393216.2_Missense_Mutation_p.W103S	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	139										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						ATCGGACGCTGGAACGTGTTC	0.647000													11	35					0	0	0.000673444	0	0
FAM47C	442444	broad.mit.edu	37	X	37028887	37028887	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:37028887G>A	ENST00000358047.3	+	1	2456	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	802										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCTGGAGCCTCCCAA	0.592000													22	39					0	0	0.000229342	0	0
SALL4	57167	broad.mit.edu	37	20	50400964	50400964	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:50400964G>A	ENST00000217086.4	-	4	3113	c.3002C>T	c.(3001-3003)tCc>tTc	p.S1001F	SALL4_ENST00000395997.3_Missense_Mutation_p.S564F|SALL4_ENST00000371539.3_Missense_Mutation_p.S224F	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1001					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCCCAAGGAAACCGGGAG	0.557000													12	43					0	0	0.000219431	0	0
SPATA22	84690	broad.mit.edu	37	17	3343529	3343529	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:3343529G>A	ENST00000573128.1	-	9	1487	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	SPATA22_ENST00000355380.4_Missense_Mutation_p.S292F|SPATA22_ENST00000575375.1_Missense_Mutation_p.S335F|SPATA22_ENST00000572969.1_Missense_Mutation_p.S335F|SPATA22_ENST00000541913.1_Missense_Mutation_p.S319F|SPATA22_ENST00000397168.3_Missense_Mutation_p.S335F			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	335										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTCAGAAACAGACGCCGGTCT	0.373000													18	53					0	0	0.000132079	0	0
DOCK1	1793	broad.mit.edu	37	10	129231674	129231674	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:129231674C>T	ENST00000280333.6	+	48	5088	c.4979C>T	c.(4978-4980)tCc>tTc	p.S1660F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1660					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|guanyl-nucleotide exchange factor activity|SH3 domain binding			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)		AGCACCCCTTCCAGACCAGGC	0.637000													24	44					0	0	0.000375601	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:29284912G>A	ENST00000266943.6	-	4	1498	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377C	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	377					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)		TCAGTCGAACGAACCACTTTT	0.388000													25	116					0	0	0.00106085	0	0
SLC44A1	23446	broad.mit.edu	37	9	108097938	108097938	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:108097938C>T	ENST00000374720.3	+	4	611	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	SLC44A1_ENST00000374724.1_Silent_p.L122L|SLC44A1_ENST00000374723.1_Silent_p.L122L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	122						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AAGGCAAGAACTGAAAACTCT	0.403000													22	70					0	0	0.00047179	0	0
CUX2	23316	broad.mit.edu	37	12	111744811	111744811	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:111744811G>A	ENST00000261726.6	+	11	1099	c.945G>A	c.(943-945)aaG>aaA	p.K315K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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						GGCTGCTGAAGGACGTGCAGC	0.657000													27	49					0	0	0.000720815	0	0
PKD1L1	168507	broad.mit.edu	37	7	47913531	47913531	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:47913531G>C	ENST00000289672.2	-	24	3912	c.3862C>G	c.(3862-3864)Cgc>Ggc	p.R1288G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1288	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCATGGTAGCGGGGCAGCACA	0.512000													8	43					0	0	0.000978159	0	0
CCR1	1230	broad.mit.edu	37	3	46245360	46245360	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:46245360A>T	ENST00000296140.3	-	2	570	c.445T>A	c.(445-447)Ttt>Att	p.F149I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	149					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATGACACCAAAAGTGACGGTC	0.527000													10	44					0	0	0.000673444	0	0
PPM1L	151742	broad.mit.edu	37	3	160786714	160786714	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:160786714C>T	ENST00000498165.1	+	4	953	c.852C>T	c.(850-852)atC>atT	p.I284I	PPM1L_ENST00000295839.9_Silent_p.I157I|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Silent_p.I105I	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	284	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCCAGACATCCTGACCTTTG	0.517000													16	67					0	0	0.000958276	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658824	49658824	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:49658824C>T	ENST00000249601.4	-	9	1644	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E291K|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E341K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E466K|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E456K|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E283K|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E360K	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	450	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGGCACCTCCAGGGATGAG	0.677000													3	3					0	0	6.4e-05	0	0
TEC	7006	broad.mit.edu	37	4	48178188	48178188	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:48178188C>T	ENST00000381501.3	-	3	311	c.154G>A	c.(154-156)Ggg>Agg	p.G52R		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	52	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCAATAAACCCCTTTCTGTAT	0.308000													24	62					0	0	0.000586117	0	0
C8B	732	broad.mit.edu	37	1	57415232	57415232	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:57415232T>C	ENST00000543257.1	-	7	1270	c.704A>G	c.(703-705)cAt>cGt	p.H235R	C8B_ENST00000535057.1_Missense_Mutation_p.H225R|C8B_ENST00000371237.4_Missense_Mutation_p.H287R	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	287	MACPF.				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						ACTTACAGTATGAGAGAATCG	0.338000													11	31					0	0	0.00010058	0	0
AMPD3	272	broad.mit.edu	37	11	10516495	10516495	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:10516495C>T	ENST00000444303.2	+	7	1179	c.707C>T	c.(706-708)cCt>cTt	p.P236L	AMPD3_ENST00000396554.3_Missense_Mutation_p.P404L	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	395					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAATACAACCCTGTGGGGGCC	0.532000													44	112					0	0	0.000680045	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395120	158395120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:158395120G>A	ENST00000243349.7	-	8	1681	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.R391*|ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.R361*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.R284*	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	441	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATACTTGGTCGAAACTTCTGG	0.388000													38	65					0	0	0.000319135	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280067	22280067	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:22280067C>T	ENST00000390431.3	+	0	256																											AGCCATGTACCGTAAAGAAAC	0.473000													11	23					0	0	0.00010058	0	0
TENM1	10178	broad.mit.edu	37	X	124028170	124028170	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:124028170C>T	ENST00000422452.2	-	3	573	c.510G>A	c.(508-510)atG>atA	p.M170I	TENM1_ENST00000371130.3_Missense_Mutation_p.M170I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTGAGCCTCCATGTCACAAC	0.413000													9	42					0	0	0.000673444	0	0
IGF1	3479	broad.mit.edu	37	12	102813337	102813337	+	Missense_Mutation	SNP	C	C	T	rs151098426	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:102813337C>T	ENST00000456098.1	-	3	570	c.352G>A	c.(352-354)Gct>Act	p.A118T	IGF1_ENST00000337514.6_Missense_Mutation_p.A118T|IGF1_ENST00000392904.1_Missense_Mutation_p.A118T|IGF1_ENST00000424202.2_Missense_Mutation_p.A102T|IGF1_ENST00000307046.8_Missense_Mutation_p.A118T	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	118	D.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACAGAGCGAGCTGACTTGGCA	0.607000													9	42					0	0	0.000442599	0	0
NOXA1	10811	broad.mit.edu	37	9	140328737	140328737	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:140328737C>T	ENST00000341349.2	+	14	1557	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	NOXA1_ENST00000392815.2_Silent_p.F403F	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	452			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCAAGTGCTTCGTGGTCCCCG	0.652000													28	97					0	0	0.000279167	0	0
SELP	6403	broad.mit.edu	37	1	169564052	169564052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:169564052C>T	ENST00000263686.6	-	13	2202	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	SELP_ENST00000367788.2_Missense_Mutation_p.G660E|SELP_ENST00000367793.2_Missense_Mutation_p.G660E|SELP_ENST00000367794.2_Missense_Mutation_p.G660E|SELP_ENST00000367791.2_Missense_Mutation_p.G536E|SELP_ENST00000458599.2_Missense_Mutation_p.G538E|SELP_ENST00000367786.2_Missense_Mutation_p.G660E|SELP_ENST00000367792.2_Missense_Mutation_p.G538E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	722	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACTGAAGTTTCCCCAGAGGTT	0.433000													14	11					0	0	0.000219431	0	0
NFXL1	152518	broad.mit.edu	37	4	47912912	47912912	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:47912912C>T	ENST00000507489.1	-	3	511	c.335G>A	c.(334-336)gGa>gAa	p.G112E	NFXL1_ENST00000329043.3_Missense_Mutation_p.G112E|NFXL1_ENST00000381538.3_Missense_Mutation_p.G112E	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	112						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						ATCTTCATCTCCTTCTTCAGA	0.338000													5	44					0	0	0.000602214	0	0
COL6A6	131873	broad.mit.edu	37	3	130284092	130284092	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:130284092G>A	ENST00000358511.6	+	3	947	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A306T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	306	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AACTGGGAAGGCCTATACTGG	0.478000													20	59					0	0	0.000295444	0	0
SNHG14	104472715	broad.mit.edu	37	15	25464012	25464012	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:25464012C>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGCTCCAGTTCCCTGGGGGCA	0.582000													4	10					0	0	0.00024832	0	0
PTPRT	11122	broad.mit.edu	37	20	41306677	41306677	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:41306677G>A	ENST00000373198.3	-	7	1217	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	PTPRT_ENST00000373190.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R328C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R328C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R328C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R328C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	328	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R328C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGGTGGTGCGATATTCCACT	0.562000													17	46					0	0	0.000958276	0	0
SCN5A	6331	broad.mit.edu	37	3	38674787	38674787	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:38674787G>A	ENST00000413689.1	-	2	205	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SCN5A_ENST00000333535.4_Silent_p.F4F|SCN5A_ENST00000414099.2_Silent_p.F4F|SCN5A_ENST00000425664.1_Silent_p.F4F|SCN5A_ENST00000450102.2_Silent_p.F4F|SCN5A_ENST00000451551.2_Silent_p.F4F|SCN5A_ENST00000449557.2_Silent_p.F4F|SCN5A_ENST00000423572.2_Silent_p.F4F|SCN5A_ENST00000443581.1_Silent_p.F4F|SCN5A_ENST00000455624.2_Silent_p.F4F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	4					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)	GAGGTAATAGGAAGTTTGCCA	0.587000													13	36					0	0	0.000308642	0	0
OR51B6	390058	broad.mit.edu	37	11	5372797	5372797	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5372797G>A	ENST00000380219.1	+	1	60	c.60G>A	c.(58-60)aaG>aaA	p.K20K	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGAGAAGGCACATCACT	0.463000													13	35					0	0	0.000308642	0	0
CAMK2D	817	broad.mit.edu	37	4	114378553	114378553	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:114378553G>A	ENST00000454265.2	-	19	2304	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	CAMK2D_ENST00000394524.3_Silent_p.R457R|CAMK2D_ENST00000342666.5_Silent_p.R457R|CAMK2D_ENST00000296402.5_Silent_p.R457R|CAMK2D_ENST00000394522.3_Silent_p.R471R|CAMK2D_ENST00000508738.1_Silent_p.R468R|CAMK2D_ENST00000429180.1_Silent_p.R477R|CAMK2D_ENST00000379773.2_Silent_p.R457R|CAMK2D_ENST00000418639.2_Silent_p.R471R|CAMK2D_ENST00000514328.1_Silent_p.R456R|CAMK2D_ENST00000505990.1_Silent_p.R491R|CAMK2D_ENST00000511664.1_Silent_p.R491R|CAMK2D_ENST00000394526.2_Silent_p.R468R|CAMK2D_ENST00000515496.1_Silent_p.R468R			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	457					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTCCATCCCGGCGGTGCCACA	0.473000													12	38					0	0	0.000219431	0	0
ACE	1636	broad.mit.edu	37	17	61564022	61564022	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:61564022A>G	ENST00000577647.1	+	3	486	c.441A>G	c.(439-441)atA>atG	p.I147M	ACE_ENST00000428043.1_Missense_Mutation_p.I721M|ACE_ENST00000290866.4_Missense_Mutation_p.I721M|ACE_ENST00000490216.2_Missense_Mutation_p.I147M|ACE_ENST00000290863.6_Missense_Mutation_p.I147M|ACE_ENST00000421982.2_Missense_Mutation_p.I31M|ACE_ENST00000413513.3_Missense_Mutation_p.I147M			P12821	ACE_HUMAN	angiotensin I converting enzyme	721	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGCGGATCATAAAGAAGGTTC	0.552000													15	23					0	0	0.000422831	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28454676	28454676	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:28454676G>A	ENST00000383768.2	+	3	305	c.117G>A	c.(115-117)ttG>ttA	p.L39L	ZCWPW2_ENST00000421010.1_Silent_p.L39L			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	39							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAAATTGTTTGAAATGGAGAT	0.348000													10	31					0	0	0.000442599	0	0
PELI3	246330	broad.mit.edu	37	11	66239884	66239884	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:66239884C>T	ENST00000349459.6	+	4	611	c.327C>T	c.(325-327)tcC>tcT	p.S109S	PELI3_ENST00000320740.7_Silent_p.S133S|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Silent_p.S133S	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	133				H -> L (in Ref. 2; BAB85015).		cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ATACACTGTCCCGGAGCCACT	0.547000													9	48					0	0	0.000673444	0	0
C19orf26	255057	broad.mit.edu	37	19	1231091	1231091	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:1231091G>A	ENST00000590083.1	-	9	1455	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	C19orf26_ENST00000382477.2_Intron|C19orf26_ENST00000215376.6_Missense_Mutation_p.S382L			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	408						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCTACTGAAAAATACCT	0.706000										HNSCC(14;0.022)			6	28					0	0	0.000157383	0	0
C12orf60	144608	broad.mit.edu	37	12	14976271	14976271	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:14976271G>A	ENST00000330828.2	+	2	606	c.402G>A	c.(400-402)ggG>ggA	p.G134G	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	134										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ACATCCTTGGGAGTCTGGAAT	0.408000													8	80					0	0	0.000274275	0	0
KRT25	147183	broad.mit.edu	37	17	38904547	38904547	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:38904547C>T	ENST00000312150.4	-	8	1395	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	445	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTTGAGATTTCTCTTCCAGGG	0.443000													16	120					0	0	0.000308642	0	0
FLT4	2324	broad.mit.edu	37	5	180058777	180058777	+	Splice_Site	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:180058777G>C	ENST00000261937.6	-	2	138	c.58_splice	c.e2-1	p.G20_splice	FLT4_ENST00000393347.3_Splice_Site_p.G20_splice|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Splice_Site_p.G20_splice	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	20					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACTCACCAGGCCTGGGGTGG	0.622000													3	20					0	0	6.4e-05	0	0
IMPG2	50939	broad.mit.edu	37	3	100963530	100963530	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:100963530C>T	ENST00000193391.7	-	13	1832	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	549					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCAGAGTCTTCCATGGATGGT	0.383000													14	53					0	0	0.000151284	0	0
DSC2	1824	broad.mit.edu	37	18	28648310	28648310	+	Splice_Site	SNP	C	C	T	rs148735638	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:28648310C>T	ENST00000251081.6	-	16	2541	c.2508_splice	c.e16-1	p.E837_splice	DSC2_ENST00000280904.6_Intron	NM_004949.3	NP_004940.1	Q02487	DSC2_HUMAN	desmocollin 2	837					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTAATGGATTCCTATACATAA	0.289000													8	34					0	0	0.000978159	0	0
BTK	695	broad.mit.edu	37	X	100609665	100609665	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:100609665C>A	ENST00000308731.7	-	16	1747	c.1584G>T	c.(1582-1584)ttG>ttT	p.L528F	BTK_ENST00000372880.1_Missense_Mutation_p.L352F	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	528	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GATCGTTTACCAAACAGTTTC	0.458000									Agammaglobulinemia, X-linked				8	191					0.000274275	0.0028961	0.000274275	1	0
FLT4	2324	broad.mit.edu	37	5	180050949	180050949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:180050949C>T	ENST00000261937.6	-	11	1612	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	FLT4_ENST00000393347.3_Missense_Mutation_p.E512K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E512K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	512	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTCTTTCCCTCCACAAACTCG	0.607000													9	59					0	0	0.000673444	0	0
FAM110B	90362	broad.mit.edu	37	8	59059713	59059713	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:59059713C>T	ENST00000361488.3	+	5	1804	c.924C>T	c.(922-924)ttC>ttT	p.F308F	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	308						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCCTCAACTTCCGCAGCGCAA	0.488000													17	47					0	0	0.000422831	0	0
KDM5C	8242	broad.mit.edu	37	X	53245323	53245323	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:53245323G>A	ENST00000452825.3	-	4	1045	c.513C>T	c.(511-513)atC>atT	p.I171I	KDM5C_ENST00000404049.3_Silent_p.I237I|KDM5C_ENST00000375379.3_Silent_p.I238I|KDM5C_ENST00000375383.3_Silent_p.I197I|KDM5C_ENST00000375401.3_Silent_p.I238I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	238					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						CTGCCCCATAGATCTGTAGCT	0.532000			"""N, F, S"""		clear cell renal carcinoma								29	54					0	0	0.000339439	0	0
GRIA3	2892	broad.mit.edu	37	X	122538601	122538601	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:122538601G>A	ENST00000264357.5	+	10	1628	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	GRIA3_ENST00000371251.1_Missense_Mutation_p.E446K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E446K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E446K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E430K	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	446					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			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)	TGAGCAACTGGAAGGAAATGA	0.378000													5	30					0	0	8.12818e-05	0	0
SPESP1	246777	broad.mit.edu	37	15	69238016	69238016	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69238016C>T	ENST00000310673.3	+	2	297	c.143C>T	c.(142-144)cCc>cTc	p.P48L	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	48					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CGAAGTGTTCCCTCTGGGGAG	0.368000													28	90					0	0	0.000339439	0	0
AOC3	8639	broad.mit.edu	37	17	41003657	41003657	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:41003657G>A	ENST00000308423.2	+	1	457	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	99					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCTTCTCAGTGGAGTTGCAGC	0.672000													7	59					0	0	0.000157383	0	0
KLRC3	3823	broad.mit.edu	37	12	10568306	10568306	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:10568306G>A	ENST00000396439.2	-	6	719	c.675C>T	c.(673-675)atC>atT	p.I225I	NKG2-E_ENST00000539033.1_Silent_p.I225I|KLRC3_ENST00000381903.2_Silent_p.I225I|KLRC3_ENST00000381904.2_Silent_p.I225I	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGCTCACAATGATTCTTGAAG	0.353000													19	27					0	0	0.00074312	0	0
EPHA4	2043	broad.mit.edu	37	2	222321352	222321352	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:222321352C>T	ENST00000281821.2	-	7	1625	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L	EPHA4_ENST00000409854.1_Silent_p.L528L|EPHA4_ENST00000409938.1_Silent_p.L528L|EPHA4_ENST00000392071.4_Silent_p.L477L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	528	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGTAACCTCCAAGGGCTCAC	0.478000													10	53					0	0	0.000978159	0	0
SVIL	6840	broad.mit.edu	37	10	29812462	29812462	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:29812462T>C	ENST00000375398.2	-	17	3530	c.3081A>G	c.(3079-3081)ggA>ggG	p.G1027G	SVIL_ENST00000375400.3_Silent_p.G601G|SVIL_ENST00000355867.4_Silent_p.G1027G			O95425	SVIL_HUMAN	supervillin	1027					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGTCCAAGTTTCCTTGTGCAT	0.507000													20	50					0	0	0.000229342	0	0
CYLC2	1539	broad.mit.edu	37	9	105767362	105767362	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:105767362G>A	ENST00000374798.3	+	5	519	c.449G>A	c.(448-450)gGa>gAa	p.G150E	CYLC2_ENST00000487798.1_Missense_Mutation_p.G150E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	150	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				atagagaaaggaaaagaagaa	0.358000													7	17					0	0	8.12818e-05	0	0
PSPH	5723	broad.mit.edu	37	7	56079562	56079562	+	Splice_Site	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:56079562C>G	ENST00000395471.3	-	8	1376	c.570_splice	c.e8-1	p.D191_splice	PSPH_ENST00000275605.3_Splice_Site_p.D191_splice|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	191					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.D191H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGAAAGCATCCTAAGAAGGA	0.388000													13	54					0	0	0.000151284	0	0
HNRNPK	3190	broad.mit.edu	37	9	86593125	86593125	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:86593125T>G	ENST00000376263.3	-	3	266	c.43A>C	c.(43-45)Acc>Ccc	p.T15P	HNRNPK_ENST00000360384.5_Missense_Mutation_p.T15P|HNRNPK_ENST00000376264.2_Missense_Mutation_p.T15P|HNRNPK_ENST00000376281.4_Missense_Mutation_p.T15P|HNRNPK_ENST00000351839.3_Missense_Mutation_p.T15P	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	15	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCACCATTGGTTTCAGTGTTA	0.333000													14	79					0	0	0.000566183	0	0
SLC22A18	5002	broad.mit.edu	37	11	2943699	2943699	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:2943699C>T	ENST00000380574.1	+	10	1431	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L	SLC22A18_ENST00000449793.2_Silent_p.L236L|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000347936.2_Silent_p.L334L|SLC22A18_ENST00000312221.5_Silent_p.L334L			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	334					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCTGCCTCCTGGTGCCCGG	0.657000													20	84					0	0	0.000586117	0	0
RHBDD1	84236	broad.mit.edu	37	2	227771475	227771475	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:227771475A>G	ENST00000409053.1	+	1	48	c.35A>G	c.(34-36)aAc>aGc	p.N12S	RHBDD1_ENST00000341329.3_Intron|RHBDD1_ENST00000392062.2_Intron			Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	0						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CAGCAGCAGAACAAACACTCA	0.468000													12	52					0	0	0.000978159	0	0
IQCE	23288	broad.mit.edu	37	7	2623876	2623876	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:2623876C>T	ENST00000402050.2	+	11	965	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	IQCE_ENST00000438376.2_Missense_Mutation_p.R245C|IQCE_ENST00000404984.1_Missense_Mutation_p.R210C|IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000325979.7_Missense_Mutation_p.R196C	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	261										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACAGGTGCATCGTCTCCAGAC	0.473000													39	117					0	0	0.000374591	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616254	121616254	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:121616254C>T	ENST00000489711.1	+	3	601	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SLC15A2_ENST00000295605.2_Silent_p.F71F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	71					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)	TCCTGTATTTCCTGTATTTCC	0.418000													35	113					0	0	0.000270559	0	0
OR51V1	283111	broad.mit.edu	37	11	5221055	5221055	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5221055G>A	ENST00000321255.1	-	1	875	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAAGGTGGGAAAAGGATGT	0.433000													9	46					0	0	0.000274275	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369872	20369872	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:20369872G>A	ENST00000593655.1	-	0	199																											GAAGGAGTTGGTGTTGCTGAA	0.408000													10	21					0	0	0.000442599	0	0
AWAT2	158835	broad.mit.edu	37	X	69262222	69262222	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:69262222G>A	ENST00000276101.3	-	6	667	c.662C>T	c.(661-663)cCt>cTt	p.P221L		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	221						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGCATAGGCAGGTATTAGAGG	0.532000													4	29					0	0	0.000602214	0	0
RHPN2	85415	broad.mit.edu	37	19	33490582	33490582	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:33490582C>T	ENST00000254260.3	-	10	1170	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	RHPN2_ENST00000400226.4_Missense_Mutation_p.E228K	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	379	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGGCACTTCTCCTGGTGGTCC	0.577000													11	41					0	0	0.000978159	0	0
OTOF	9381	broad.mit.edu	37	2	26717889	26717889	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:26717889G>T	ENST00000272371.2	-	9	944	c.818C>A	c.(817-819)cCt>cAt	p.P273H	OTOF_ENST00000403946.3_Missense_Mutation_p.P273H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	273	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACACCACAGGGTCCATGTT	0.587000													20	69					1.50039e-11	1.61361e-10	0.000229342	1	0
SKAP1	8631	broad.mit.edu	37	17	46239846	46239846	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:46239846G>A	ENST00000336915.6	-	11	1032	c.963C>T	c.(961-963)atC>atT	p.I321I	SKAP1_ENST00000584924.1_Silent_p.I321I	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	321	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCAGAATACGGATGAGGTCAC	0.438000													10	36					0	0	0.000978159	0	0
DIAPH3	81624	broad.mit.edu	37	13	60737783	60737783	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:60737783C>T	ENST00000400324.4	-	1	338	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	DIAPH3_ENST00000377908.2_Missense_Mutation_p.G40S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.G40S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.G40S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.G40S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.G40S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	40					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGTTGGGGGCCCTTCCTGCGC	0.711000													7	43					0	0	0.000442599	0	0
HMGCL	3155	broad.mit.edu	37	1	24144068	24144068	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:24144068G>A	ENST00000374483.4	-	4	746	c.75C>T	c.(73-75)atC>atT	p.I25I	HMGCL_ENST00000436439.2_Silent_p.I50I|HMGCL_ENST00000374490.3_Silent_p.I50I|HMGCL_ENST00000509389.1_5'UTR			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	50					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GAGTAGATACGATATTCTATA	0.398000													8	45					0	0	0.000274275	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525035	167525035	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:167525035C>T	ENST00000295777.5	+	6	1316	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Silent_p.F295F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	295					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTCCAGGTTCACAGTGGAAC	0.348000													16	51					0	0	0.000422831	0	0
MARCH2	51257	broad.mit.edu	37	19	8486881	8486881	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:8486881C>T	ENST00000602117.1	+	2	612	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	MARCH2_ENST00000393944.1_Missense_Mutation_p.R53C|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.R53C|MARCH2_ENST00000381035.4_Missense_Mutation_p.R53C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	53					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						CACCGTCATCCGTGCCTTGGA	0.617000													11	44					0	0	0.000566183	0	0
CFHR5	81494	broad.mit.edu	37	1	196967338	196967338	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:196967338C>T	ENST00000367414.5	+	7	1179	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	CFHR5_ENST00000256785.4_Missense_Mutation_p.H351Y	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	351	Sushi 6.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAATTTAATCATAATTCTAG	0.333000													7	4					0	0	8.12818e-05	0	0
OR52A5	390054	broad.mit.edu	37	11	5153159	5153159	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5153159G>A	ENST00000307388.1	-	1	713	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAAAGGCCTTGAATCGTGCCT	0.413000													13	31					0	0	0.00010058	0	0
POP1	10940	broad.mit.edu	37	8	99168505	99168505	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:99168505C>T	ENST00000401707.2	+	15	2366	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	POP1_ENST00000349693.3_Missense_Mutation_p.S762F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	762					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTGGGCACATCCATAGAGCAC	0.517000													59	69					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179438423	179438423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179438423G>A	ENST00000589042.1	-	326	72660	c.72436C>T	c.(72436-72438)Cct>Tct	p.P24146S	TTN_ENST00000359218.5_Missense_Mutation_p.P15206S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22505S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15273S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21578S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15081S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22505	Fibronectin type-III 75.						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)			TCCAGTGGAGGGAACCATGAT	0.438000													17	103					0	0	0.000422831	0	0
CDH6	1004	broad.mit.edu	37	5	31323187	31323187	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:31323187C>T	ENST00000265071.2	+	12	2410	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	715					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGAGATTTCATTAACCAAA	0.532000													8	35					0	0	0.000442599	0	0
RYR1	6261	broad.mit.edu	37	19	39010014	39010014	+	Silent	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:39010014G>C	ENST00000355481.4	+	67	10310	c.10179G>C	c.(10177-10179)ctG>ctC	p.L3393L	RYR1_ENST00000359596.3_Silent_p.L3393L|RYR1_ENST00000360985.3_Silent_p.L3393L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3393					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGAGCTGCTGGTGCGGGACG	0.677000													3	4					0	0	6.4e-05	0	0
DUOX1	53905	broad.mit.edu	37	15	45427789	45427789	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:45427789T>A	ENST00000321429.4	+	7	1020	c.613T>A	c.(613-615)Ttt>Att	p.F205I	DUOX1_ENST00000389037.3_Missense_Mutation_p.F205I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	205	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGACCCCGCTTTTCCCCGAGA	0.721000													4	5					0	0	0.00024832	0	0
LILRB2	10288	broad.mit.edu	37	19	54782925	54782925	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:54782925G>A	ENST00000391748.1	-	6	824	c.697C>T	c.(697-699)Cct>Tct	p.P233S	LILRB2_ENST00000391746.1_Missense_Mutation_p.P233S|LILRB2_ENST00000391749.4_Missense_Mutation_p.P233S|LILRB2_ENST00000434421.1_Missense_Mutation_p.P117S|LILRB2_ENST00000314446.5_Missense_Mutation_p.P233S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	233	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCACGACAGGACCCGGCTGC	0.572000													19	45					0	0	0.000295444	0	0
ANO3	63982	broad.mit.edu	37	11	26556094	26556094	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:26556094G>A	ENST00000256737.3	+	9	1813	c.961G>A	c.(961-963)Gga>Aga	p.G321R	ANO3_ENST00000531568.1_Missense_Mutation_p.G175R|ANO3_ENST00000525139.1_Missense_Mutation_p.G305R|ANO3_ENST00000537978.1_Missense_Mutation_p.G305R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	321						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATATGAAAATGGAATATCAAA	0.318000													20	71					0	0	0.000132079	0	0
NPR2	4882	broad.mit.edu	37	9	35806418	35806418	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:35806418T>C	ENST00000342694.2	+	16	2657	c.2402T>C	c.(2401-2403)cTc>cCc	p.L801P		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	801					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTGGACAACCTCCTGCTGCGC	0.532000													10	50					0	0	0.00010058	0	0
TACR3	6870	broad.mit.edu	37	4	104510934	104510934	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:104510934T>C	ENST00000304883.2	-	5	1443	c.1303A>G	c.(1303-1305)Agt>Ggt	p.S435G	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	435						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCATTGAAACTTGGGTCTCTT	0.493000													10	55					0	0	0.000673444	0	0
ERN1	2081	broad.mit.edu	37	17	62135310	62135310	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:62135310G>A	ENST00000433197.2	-	12	1345	c.1250C>T	c.(1249-1251)aCc>aTc	p.T417I		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	417					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCGAGACACGGTGGTAGGTGC	0.562000													4	9					0	0	0.000602214	0	0
CCDC110	256309	broad.mit.edu	37	4	186380286	186380286	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:186380286T>G	ENST00000307588.3	-	6	1530	c.1455A>C	c.(1453-1455)gaA>gaC	p.E485D	CCDC110_ENST00000393540.3_Missense_Mutation_p.E448D|CCDC110_ENST00000510617.1_Missense_Mutation_p.E485D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	485						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TACTCTTTTCTTCAACCAGAT	0.284000													6	47					0	0	0.000157383	0	0
H6PD	9563	broad.mit.edu	37	1	9324115	9324115	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:9324115C>T	ENST00000377403.2	+	5	1865	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	H6PD_ENST00000602477.1_Silent_p.F532F	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	521	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCGGTTGTTCTTTTCCCAGC	0.642000													33	51					0	0	0.000491102	0	0
COA5	493753	broad.mit.edu	37	2	99220599	99220599	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:99220599T>C	ENST00000328709.3	-	2	241	c.155A>G	c.(154-156)tAc>tGc	p.Y52C	COA5_ENST00000483527.1_5'UTR|COA5_ENST00000409997.1_Missense_Mutation_p.Y52C	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	52																	AAAAAATGCGTACTTCAAAGA	0.333000													33	79					0	0	0.000953801	0	0
CWH43	80157	broad.mit.edu	37	4	49052780	49052780	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:49052780C>T	ENST00000226432.4	+	15	2118	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	CWH43_ENST00000513409.1_Silent_p.I618I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	645					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATTTAGGATCCCTGATGACC	0.393000													11	41					0	0	0.00010058	0	0
ZNF236	7776	broad.mit.edu	37	18	74637500	74637500	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:74637500C>T	ENST00000253159.8	+	22	4209	c.4011C>T	c.(4009-4011)gcC>gcT	p.A1337A	ZNF236_ENST00000320610.9_Silent_p.A1339A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1337					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTCCCTGCCTCTGTGTCAG	0.493000													16	20					0	0	0.000566183	0	0
YLPM1	56252	broad.mit.edu	37	14	75248256	75248256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:75248256C>T	ENST00000325680.7	+	4	1634	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*	YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q504*|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAATTCATTTCAGAACATGAA	0.448000													10	28					0	0	0.000978159	0	0
GBA2	57704	broad.mit.edu	37	9	35739703	35739703	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:35739703G>A	ENST00000378094.4	-	9	2017	c.1504C>T	c.(1504-1506)Cta>Tta	p.L502L	GBA2_ENST00000378103.3_Silent_p.L502L|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.L508L			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	502					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCTGGTAGGGAGTCCTCA	0.562000													16	29					0	0	0.000422831	0	0
GAS2	2620	broad.mit.edu	37	11	22747898	22747898	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:22747898A>G	ENST00000454584.2	+	4	633	c.328A>G	c.(328-330)Aga>Gga	p.R110G	GAS2_ENST00000433790.1_Missense_Mutation_p.R110G|GAS2_ENST00000278187.3_Missense_Mutation_p.R110G	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	110	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTTTTTTGCCAGAGACAATAC	0.408000													5	32					0	0	8.12818e-05	0	0
ATF6B	1388	broad.mit.edu	37	6	32083662	32083662	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:32083662G>A	ENST00000375201.4	-	18	2002	c.1957C>T	c.(1957-1959)Cac>Tac	p.H653Y	ATF6B_ENST00000375203.3_Missense_Mutation_p.H656Y			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	656					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GTCTTGATGTGAATCACCCTG	0.617000													87	422					0	0	0.000781405	0	0
AE000661.37	0	broad.mit.edu	37	14	22931924	22931924	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:22931924G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							ATATTTGCAGGAAGTCAGCCT	0.388000													6	10					0	0	3.59834e-05	0	0
TRIM13	10206	broad.mit.edu	37	13	50586282	50586282	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:50586282T>C	ENST00000378182.3	+	2	944	c.206T>C	c.(205-207)cTg>cCg	p.L69P	TRIM13_ENST00000356017.4_Missense_Mutation_p.L72P|TRIM13_ENST00000420995.2_Missense_Mutation_p.L69P|TRIM13_ENST00000298772.5_Missense_Mutation_p.L72P|TRIM13_ENST00000457662.2_Missense_Mutation_p.L69P|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	69					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		ATTAATAGCCTGCAGGTTAAT	0.458000													4	62					0	0	0.00024832	0	0
CD5	921	broad.mit.edu	37	11	60885711	60885711	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:60885711G>A	ENST00000347785.3	+	3	325	c.159G>A	c.(157-159)aaG>aaA	p.K53K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	53	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCTACCTCAAGGACGGATGGC	0.617000													30	57					0	0	0.000339439	0	0
GPKOW	27238	broad.mit.edu	37	X	48979934	48979934	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:48979934C>T	ENST00000156109.5	-	1	217	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	47						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TTCAAGAAATCCTTCTCCTCC	0.632000													5	15					0	0	0.000602214	0	0
CDH10	1008	broad.mit.edu	37	5	24498584	24498584	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:24498584A>C	ENST00000264463.4	-	9	1945	c.1438T>G	c.(1438-1440)Ttg>Gtg	p.L480V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	480	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTAACATCCAAAATTCTCACA	0.398000										HNSCC(23;0.051)			16	42					0	0	0.000566183	0	0
DYRK4	8798	broad.mit.edu	37	12	4722853	4722853	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4722853G>T	ENST00000540757.2	+	13	1657	c.1497G>T	c.(1495-1497)atG>atT	p.M499I	DYRK4_ENST00000543431.1_Missense_Mutation_p.M498I|DYRK4_ENST00000545342.1_Missense_Mutation_p.M136I|DYRK4_ENST00000010132.5_Missense_Mutation_p.M499I	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	499						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGGTGTCCATGACCTCCCCAG	0.547000													13	40					4.93089e-13	5.32766e-12	0.000219431	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508805	106508805	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:106508805G>A	ENST00000359195.3	+	2	1109	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E267K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E267K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	267					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						AAGCCAAAGCGAACAGGATTT	0.557000													11	44					0	0	0.000978159	0	0
ADGRG1	9289	broad.mit.edu	37	16	57689336	57689336	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:57689336A>G	ENST00000562631.1	+	6	1326	c.794A>G	c.(793-795)tAc>tGc	p.Y265C	GPR56_ENST00000567835.1_Missense_Mutation_p.Y265C|GPR56_ENST00000388813.5_Missense_Mutation_p.Y265C|GPR56_ENST00000379694.4_Missense_Mutation_p.Y95C|GPR56_ENST00000379696.3_Missense_Mutation_p.Y265C|GPR56_ENST00000538815.1_Missense_Mutation_p.Y265C|GPR56_ENST00000544297.1_Missense_Mutation_p.Y90C|GPR56_ENST00000456916.1_Missense_Mutation_p.Y265C|GPR56_ENST00000388812.4_Missense_Mutation_p.Y265C|GPR56_ENST00000568908.1_Missense_Mutation_p.Y265C|GPR56_ENST00000568909.1_Missense_Mutation_p.Y265C|GPR56_ENST00000540164.2_Missense_Mutation_p.Y265C|GPR56_ENST00000562558.1_Missense_Mutation_p.Y265C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	265					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCATGGAGTACTCGGTGCTG	0.612000													17	46					0	0	0.000958276	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734861	176734861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:176734861C>T	ENST00000367662.3	+	15	5375	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1404	Sushi 1.				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						CTTGATCATGCTGATGTGGTG	0.507000													31	70					0	0	0.000814825	0	0
TTN	7273	broad.mit.edu	37	2	179644729	179644729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179644729G>A	ENST00000589042.1	-	22	3951	c.3727C>T	c.(3727-3729)Cag>Tag	p.Q1243*	TTN_ENST00000359218.5_Nonsense_Mutation_p.Q1197*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q1243*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q1197*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q1243*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q1243*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q1197*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1243							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)			ATACTCACCTGATCTTCTACA	0.313000													15	84					0	0	0.00074312	0	0
BTD	686	broad.mit.edu	37	3	15686538	15686538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:15686538C>T	ENST00000383778.4	+	4	1473	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	BTD_ENST00000303498.5_Missense_Mutation_p.P392L|BTD_ENST00000449107.1_Missense_Mutation_p.P394L|BTD_ENST00000437172.1_Missense_Mutation_p.P394L			P43251	BTD_HUMAN	biotinidase	392					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						AATGCTCCTCCCACATTTCAC	0.473000													32	119					0	0	0.000339439	0	0
DOCK4	9732	broad.mit.edu	37	7	111430623	111430623	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:111430623G>A	ENST00000428084.1	-	31	3477	c.3205C>T	c.(3205-3207)Ccc>Tcc	p.P1069S	DOCK4_ENST00000437633.1_Missense_Mutation_p.P1069S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1069					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTAGGAAGGGGCCAATCAGG	0.398000													5	28					0	0	8.12818e-05	0	0
ZFAND4	93550	broad.mit.edu	37	10	46159129	46159129	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:46159129C>T	ENST00000344646.5	-	2	260	c.45G>A	c.(43-45)atG>atA	p.M15I	ZFAND4_ENST00000374366.3_5'UTR|ZFAND4_ENST00000374371.2_Missense_Mutation_p.M15I|ZFAND4_ENST00000335258.7_Missense_Mutation_p.M15I	NM_001128324.1|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	15							zinc ion binding										AAAATGGTCCCATGTTATCAT	0.363000													18	29					0	0	0.000295444	0	0
PRMT3	10196	broad.mit.edu	37	11	20417360	20417360	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:20417360C>T	ENST00000331079.6	+	6	629	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F	PRMT3_ENST00000437750.2_Missense_Mutation_p.L76F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	138							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TGTAGAAGATCTTTATGAACC	0.348000													19	55					0	0	0.000175454	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740865	140740865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140740865G>A	ENST00000522605.1	+	1	1163	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTGTTGGGAAATGCCAAG	0.468000													14	94					0	0	0.000151284	0	0
AKR1B10	57016	broad.mit.edu	37	7	134221899	134221899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:134221899G>A	ENST00000359579.4	+	6	969	c.649G>A	c.(649-651)Gat>Aat	p.D217N		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	217					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGGCTCTCCGGATAGACCTTG	0.473000													6	10					0	0	0.000978159	0	0
ZNF778	197320	broad.mit.edu	37	16	89294742	89294742	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:89294742C>T	ENST00000433976.2	+	6	2294	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	ZNF778_ENST00000306502.6_Silent_p.F612F|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGAAAGCCTTCCGTGCCTCCT	0.448000													5	14					0	0	0.000602214	0	0
ERC2	26059	broad.mit.edu	37	3	56330089	56330089	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:56330089C>T	ENST00000288221.6	-	3	1287	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	344						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GATCTAAAATCACTTCCAAGT	0.428000													32	84					0	0	0.000227799	0	0
VIT	5212	broad.mit.edu	37	2	37035854	37035854	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:37035854C>T	ENST00000379242.3	+	15	1931	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	VIT_ENST00000379241.3_Silent_p.S506S|VIT_ENST00000401530.1_Silent_p.S507S|VIT_ENST00000497382.1_Silent_p.S197S|VIT_ENST00000389975.3_Silent_p.S528S|VIT_ENST00000404084.1_Silent_p.S480S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	528	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTGAGATTTCCGACACGGACA	0.577000													30	46					0	0	0.000279167	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226678	23226678	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:23226678C>T	ENST00000300061.2	+	13	1981	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	613					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CACCTGCCTCCAGCCCTAGGA	0.577000													11	48					0	0	0.000978159	0	0
RBM6	10180	broad.mit.edu	37	3	50114528	50114528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:50114528C>T	ENST00000443081.1	+	21	3857	c.2938C>T	c.(2938-2940)Cga>Tga	p.R980*	RBM6_ENST00000442092.1_Nonsense_Mutation_p.R590*|RBM6_ENST00000266022.4_Nonsense_Mutation_p.R1112*|RBM6_ENST00000422955.1_Nonsense_Mutation_p.R590*|RBM6_ENST00000421682.1_Nonsense_Mutation_p.R108*|RBM6_ENST00000539992.1_Nonsense_Mutation_p.R454*			P78332	RBM6_HUMAN	RNA binding motif protein 6	1112					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGATGCTGTTCGAAGAGTCAT	0.463000													14	42					0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179481477	179481477	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179481477C>T	ENST00000589042.1	-	256	48363	c.48139G>A	c.(48139-48141)Gaa>Aaa	p.E16047K	TTN_ENST00000359218.5_Missense_Mutation_p.E7107K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E14406K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7174K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13479K|TTN_ENST00000460472.2_Missense_Mutation_p.E6982K|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14406	Ig-like 99.						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)			ACATCAATTTCCCCAGAAATT	0.358000													9	51					0	0	0.000442599	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441036	37441036	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:37441036C>T	ENST00000374660.1	+	12	1625	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S509F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S509F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	565						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						GAAGAAAATTCTTGGGATTCT	0.323000													10	48					0	0	0.000151284	0	0
GSPT1	2935	broad.mit.edu	37	16	11970009	11970009	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:11970009G>A	ENST00000434724.2	-	13	1825	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S	GSPT1_ENST00000563468.1_Silent_p.S404S|GSPT1_ENST00000439887.2_Silent_p.S541S|GSPT1_ENST00000420576.2_Silent_p.S404S|RP11-166B2.8_ENST00000574364.1_RNA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	404					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGCAGATGATGGATTTGTGCT	0.353000													51	145					0	0	0.000781405	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737737	62737737	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:62737737C>A	ENST00000369768.1	-	1	787	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	150						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)					CGGGACCTCACGGTGGCCAGC	0.637000													7	16					8.12818e-05	0.000862181	8.12818e-05	1	0
GIGYF2	26058	broad.mit.edu	37	2	233612407	233612407	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:233612407C>T	ENST00000373566.3	+	4	321	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	GIGYF2_ENST00000409196.3_Missense_Mutation_p.R42C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R42C|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R42C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R42C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R42C			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	42					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCAGATTATCGTTACGGCAG	0.398000													36	83					0	0	0.00058488	0	0
COL11A1	1301	broad.mit.edu	37	1	103491840	103491840	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:103491840C>T	ENST00000370096.3	-	6	1141	c.829G>A	c.(829-831)Gag>Aag	p.E277K	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Missense_Mutation_p.E277K|COL11A1_ENST00000358392.2_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	277	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTTTATACTCTGCTTCCCCA	0.413000													14	47					0	0	0.000151284	0	0
PIBF1	10464	broad.mit.edu	37	13	73409495	73409495	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:73409495A>G	ENST00000326291.6	+	9	1550	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	404						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAATGTATGAACGAGAAAACA	0.269000													34	91					0	0	0.000814825	0	0
BTBD9	114781	broad.mit.edu	37	6	38160295	38160295	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:38160295C>T	ENST00000481247.1	-	10	1792	c.1641_splice	c.e10+1	p.E547_splice	BTBD9_ENST00000419706.2_Splice_Site_p.E517_splice|BTBD9_ENST00000403056.1_Splice_Site_p.E547_splice|BTBD9_ENST00000314100.6_Splice_Site_p.E479_splice|BTBD9_ENST00000408958.1_Splice_Site_p.E479_splice	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	547					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGACCCTTACCTCATTTGCTG	0.448000													28	31					0	0	0.000279167	0	0
BEST2	54831	broad.mit.edu	37	19	12865695	12865695	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:12865695T>C	ENST00000549706.1	+	5	810	c.486T>C	c.(484-486)ttT>ttC	p.F162F	BEST2_ENST00000553030.1_Silent_p.F162F|BEST2_ENST00000042931.1_Silent_p.F162F			Q8NFU1	BEST2_HUMAN	bestrophin 2	162					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTCCAGGGTTTATGACCCGCG	0.617000													5	11					0	0	3.59834e-05	0	0
KDM4C	23081	broad.mit.edu	37	9	6984218	6984218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:6984218G>T	ENST00000381309.3	+	10	1733	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	KDM4C_ENST00000442236.2_Nonsense_Mutation_p.E209*|KDM4C_ENST00000428870.2_Nonsense_Mutation_p.E77*|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.E412*|KDM4C_ENST00000536108.1_Nonsense_Mutation_p.E209*|KDM4C_ENST00000381306.3_Nonsense_Mutation_p.E390*|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.E390*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	390					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TGAGGAAGAGGAAGTGTCAGA	0.512000													17	51					2.48551e-13	2.68863e-12	0.000566183	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255201	140255201	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140255201C>T	ENST00000398631.2	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCTCAGGACC	0.647000													15	61					0	0	0.000422831	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160312	70160312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:70160312C>T	ENST00000335568.5	+	6	1377	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	459					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GCCCCTGCATCGAGCAGTCTT	0.408000													5	19					0	0	3.59834e-05	0	0
HUWE1	10075	broad.mit.edu	37	X	53595718	53595718	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:53595718C>T	ENST00000342160.3	-	48	7098	c.6641G>A	c.(6640-6642)cGg>cAg	p.R2214Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2214Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2214					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGAAAAGCCGAATGATGTT	0.517000													4	35					0	0	0.00024832	0	0
FLNB	2317	broad.mit.edu	37	3	58135710	58135710	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:58135710C>T	ENST00000357272.4	+	37	6390	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	FLNB_ENST00000358537.3_Silent_p.F2051F|FLNB_ENST00000295956.4_Silent_p.F2075F|FLNB_ENST00000429972.2_Silent_p.F2064F|FLNB_ENST00000493452.1_Silent_p.F1882F|FLNB_ENST00000419752.2_Silent_p.F1895F|FLNB_ENST00000348383.5_Silent_p.F2075F|FLNB_ENST00000490882.1_Silent_p.F2106F			O75369	FLNB_HUMAN	filamin B, beta	2075	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCACCAAATTCGCTGACGAGC	0.552000													35	129					0	0	0.000319135	0	0
NXPH2	11249	broad.mit.edu	37	2	139429090	139429090	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:139429090G>A	ENST00000272641.3	-	2	303	c.197C>T	c.(196-198)cCc>cTc	p.P66L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	66	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCCGGGCTTGGGCACCGGAGA	0.552000													55	127					0	0	0.000781405	0	0
CHRD	8646	broad.mit.edu	37	3	184104890	184104890	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:184104890G>A	ENST00000204604.1	+	18	2588	c.2342G>A	c.(2341-2343)gGa>gAa	p.G781E	CHRD_ENST00000450923.1_Missense_Mutation_p.G781E|CHRD_ENST00000545352.1_Missense_Mutation_p.G323E|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.G741E	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	781					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G781E(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGGACCCAGGAGAGGGTGAG	0.582000													18	50					0	0	0.000175454	0	0
SMCHD1	23347	broad.mit.edu	37	18	2775864	2775864	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:2775864C>T	ENST00000320876.6	+	42	5646	c.5308C>T	c.(5308-5310)Cgt>Tgt	p.R1770C	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1770C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1770					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACCCAAGGTCGTCAGCAGGT	0.408000													9	38					0	0	0.000442599	0	0
SRM	6723	broad.mit.edu	37	1	11115049	11115049	+	Silent	SNP	G	G	C	rs143776030		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:11115049G>C	ENST00000376957.2	-	7	938	c.858C>G	c.(856-858)gcC>gcG	p.A286A		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	286					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCACAAAGGCGGCGCGGTGCA	0.672000													9	53					0	0	0.000673444	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:22382676C>T	ENST00000328795.4	+	1	295	c.204C>T	c.(202-204)ttC>ttT	p.F68F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000													29	267					0	0	0.000374591	0	0
SLC4A8	9498	broad.mit.edu	37	12	51864226	51864226	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:51864226C>T	ENST00000453097.2	+	13	1792	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	SLC4A8_ENST00000358657.3_Silent_p.S552S|SLC4A8_ENST00000514353.3_Silent_p.S472S|SLC4A8_ENST00000535225.2_Silent_p.S472S|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Silent_p.S472S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	525					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGCTTATTCCTTGTTTGCGG	0.423000													17	49					0	0	0.000566183	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455136	70455136	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:70455136G>A	ENST00000503640.1	-	6	1593	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	UGT2A1_ENST00000286604.4_Missense_Mutation_p.S513F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S469F|UGT2A2_ENST00000457664.2_Missense_Mutation_p.S522F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S679F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	513					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						TTTTTGACAGGAAAACAAACA	0.353000													13	40					0	0	0.000151284	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639317	18639317	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:18639317C>T	ENST00000380548.4	+	7	1081	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L248F|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L248F|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L248F	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	248						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)		AGGAACTTTCCTTGTGGACAA	0.443000													6	19					0	0	8.12818e-05	0	0
TRIO	7204	broad.mit.edu	37	5	14394211	14394211	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:14394211G>A	ENST00000344204.4	+	28	4307	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	TRIO_ENST00000509967.2_Missense_Mutation_p.R1379Q|TRIO_ENST00000537187.1_Missense_Mutation_p.R1428Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1428	DH 1.				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|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			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)					CCAGTTCAGCGAATAACGAAG	0.313000													17	72					0	0	0.000132079	0	0
HGF	3082	broad.mit.edu	37	7	81381528	81381528	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:81381528C>T	ENST00000222390.5	-	5	759	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	HGF_ENST00000423064.2_Missense_Mutation_p.R178Q|HGF_ENST00000457544.2_Missense_Mutation_p.R173Q|HGF_ENST00000453411.1_Missense_Mutation_p.R173Q|HGF_ENST00000444829.2_Missense_Mutation_p.R178Q	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	178	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCGAGGATTTCGACAGTAGTT	0.418000													7	35					0	0	0.000157383	0	0
ABCA12	26154	broad.mit.edu	37	2	215866398	215866398	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:215866398G>T	ENST00000272895.7	-	21	2966	c.2747C>A	c.(2746-2748)tCc>tAc	p.S916Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.S598Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	916					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACTGTCAGGGAAGATAGTGT	0.348000													32	51					6.04164e-23	6.55829e-22	0.000339439	1	0
CDH16	1014	broad.mit.edu	37	16	66947440	66947440	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:66947440C>T	ENST00000299752.4	-	8	1050	c.857G>A	c.(856-858)gGa>gAa	p.G286E	CDH16_ENST00000565796.1_Missense_Mutation_p.G286E|CDH16_ENST00000394055.3_Missense_Mutation_p.G286E|CDH16_ENST00000568632.1_Missense_Mutation_p.G189E|CDH16_ENST00000570262.1_Missense_Mutation_p.G206E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	286	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTAGAGGTTTCCCTCTGCATT	0.612000													14	72					0	0	0.000219431	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602210	58602210	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:58602210C>T	ENST00000287275.1	-	6	967	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	GLYATL2_ENST00000532258.1_Missense_Mutation_p.E193K|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	193						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGGCAGCGTTCAATATATTTC	0.458000													12	28					0	0	0.00010058	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033492	82033492	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:82033492C>T	ENST00000328945.5	-	3	533	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	136					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GATTCATCCCCATTTCTGATA	0.498000													14	60					0	0	0.000308642	0	0
GGA2	23062	broad.mit.edu	37	16	23504758	23504758	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:23504758G>A	ENST00000309859.4	-	4	356	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	GGA2_ENST00000567468.1_Missense_Mutation_p.H92Y	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	92	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCCCCACAGTGGTTCATGCAC	0.557000													9	27					0	0	0.000442599	0	0
BICD2	23299	broad.mit.edu	37	9	95481034	95481034	+	Silent	SNP	G	G	A	rs141414055	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:95481034G>A	ENST00000356884.6	-	5	1960	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	BICD2_ENST00000375512.3_Silent_p.I631I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	631					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGATGATAGCGATCAGGTTGT	0.657000													27	59					0	0	0.000586117	0	0
TMEM184B	25829	broad.mit.edu	37	22	38621498	38621498	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:38621498G>A	ENST00000361906.3	-	7	928	c.720C>T	c.(718-720)ctC>ctT	p.L240L	TMEM184B_ENST00000361684.4_Silent_p.L240L	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	240						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGTAGGGGCTGAGCAGCTCCC	0.587000													26	70					0	0	0.00106085	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377306	86377306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:86377306C>T	ENST00000604798.1	-	7	1494	c.290G>A	c.(289-291)aGa>aAa	p.R97K	MGAT4C_ENST00000552435.2_Missense_Mutation_p.R97K|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R97K|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R97K|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R97K|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R126K|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R97K			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	97					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTACGCTTTCTTTGTAAAGG	0.318000													42	145					0	0	0.000781405	0	0
CSMD3	114788	broad.mit.edu	37	8	113256643	113256643	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:113256643C>T	ENST00000297405.5	-	65	10626	c.10382G>A	c.(10381-10383)gGa>gAa	p.G3461E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3421E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3391E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3292E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3461	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGAACTTTTCCAGTCCAGGT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	29					0	0	0.000978159	0	0
SCN2A	6326	broad.mit.edu	37	2	166246021	166246021	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:166246021G>A	ENST00000375437.2	+	27	5995	c.5705G>A	c.(5704-5706)cGc>cAc	p.R1902H	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1902H|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1902H|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1902H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1902			R -> T (associated with autism).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACGTTGAAACGCAAACAAGAG	0.433000													13	29					0	0	0.000219431	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246746	43246746	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:43246746C>T	ENST00000307275.3	+	4	867	c.431C>T	c.(430-432)aCc>aTc	p.T144I	HEXIM2_ENST00000591576.1_Missense_Mutation_p.T144I|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.T144I	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	144					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						TACAACACCACCCAGTTCCTG	0.637000													5	25					0	0	3.59834e-05	0	0
SKIV2L	6499	broad.mit.edu	37	6	31931314	31931314	+	Silent	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:31931314C>A	ENST00000375394.2	+	14	1641	c.1528C>A	c.(1528-1530)Cga>Aga	p.R510R	SKIV2L_ENST00000544581.1_Silent_p.R317R	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	510						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCTGGACTCCCGAGGAGCCTT	0.587000													8	358					0.000673444	0.00707078	0.000673444	1	0
KCNB2	9312	broad.mit.edu	37	8	73480163	73480163	+	Missense_Mutation	SNP	G	G	A	rs140028668		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:73480163G>A	ENST00000523207.1	+	2	782	c.194G>A	c.(193-195)cGa>cAa	p.R65Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	65					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)			GGGAAGCTTCGAGACTGCAAC	0.552000													6	97					0	0	8.12818e-05	0	0
DBH	1621	broad.mit.edu	37	9	136501618	136501618	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:136501618C>T	ENST00000393056.2	+	1	137	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	42					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGCTCGGCTCCCCGTGAGAGC	0.652000													9	26					0	0	0.000274275	0	0
MYH1	4619	broad.mit.edu	37	17	10411857	10411857	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:10411857C>T	ENST00000226207.5	-	16	1814	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	574	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAGGCTTGCCTTTGGCAGGC	0.507000													17	48					0	0	0.000566183	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369351	86369351	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:86369351G>A	ENST00000400286.2	-	2	1891	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	431						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGAGACCAAGGAACATGCCTT	0.348000													6	22					0	0	3.59834e-05	0	0
PTH1R	5745	broad.mit.edu	37	3	46939926	46939926	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:46939926C>T	ENST00000313049.5	+	6	805	c.602C>T	c.(601-603)tCc>tTc	p.S201F	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000418619.1_Missense_Mutation_p.S201F|PTH1R_ENST00000430002.2_Missense_Mutation_p.S201F|PTH1R_ENST00000449590.1_Missense_Mutation_p.S201F			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	201						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						TCCCTGGCGTCCCTCACCGTA	0.682000													13	40					0	0	0.000422831	0	0
ENTPD3	956	broad.mit.edu	37	3	40457369	40457369	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:40457369G>A	ENST00000301825.3	+	7	754	c.636G>A	c.(634-636)gtG>gtA	p.V212V	ENTPD3_ENST00000445129.1_Silent_p.V212V|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.V212V|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	212						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CGCATGGAGTGGAAACCACGG	0.542000													8	38					0	0	0.000157383	0	0
CXorf22	170063	broad.mit.edu	37	X	35974299	35974299	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:35974299G>A	ENST00000297866.5	+	8	1462	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	466										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAAGATTACTGGAGGGGGTAT	0.363000													9	26					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9083352	9083352	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9083352C>T	ENST00000397910.4	-	1	8666	c.8463G>A	c.(8461-8463)atG>atA	p.M2821I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2821	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M2821I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCTGGGTTCATGGTCAGAG	0.502000													9	31					0	0	0.000274275	0	0
BAG6	7917	broad.mit.edu	37	6	31609699	31609699	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:31609699G>A	ENST00000404765.2	-	17	2648	c.2359C>T	c.(2359-2361)Ctt>Ttt	p.L787F	BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000211379.5_Missense_Mutation_p.L751F|BAG6_ENST00000439687.2_Missense_Mutation_p.L625F|BAG6_ENST00000375976.4_Missense_Mutation_p.L751F|BAG6_ENST00000375964.6_Missense_Mutation_p.L757F|BAG6_ENST00000362049.6_Missense_Mutation_p.L751F			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	757					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGGCACAGAAGAGAAAGCAAG	0.542000													55	230					0	0	0.000781405	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462044	50462044	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:50462044C>T	ENST00000447370.2	-	7	1309	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACGGTCTGTCCCCACCGGGTC	0.682000													19	51					0	0	0.000132079	0	0
TREML1	340205	broad.mit.edu	37	6	41121581	41121581	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:41121581C>T	ENST00000373127.4	-	2	339	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TREML1_ENST00000426005.2_Silent_p.E97E|TREML1_ENST00000437044.2_Intron	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	97	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCAGCATCCTCTTCCTGCA	0.602000													12	55					0	0	0.000219431	0	0
UTP14A	10813	broad.mit.edu	37	X	129060059	129060059	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:129060059C>T	ENST00000394422.3	+	13	1942	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.G584G|UTP14A_ENST00000425117.2_Silent_p.G586G|UTP14A_ENST00000371042.3_Silent_p.G470G	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	638					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GTGGTGTGGGCCTAAAGCCCA	0.572000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	27					0	0	0.000566183	0	0
UTRN	7402	broad.mit.edu	37	6	144759886	144759886	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:144759886A>T	ENST00000367545.3	+	11	1247	c.1247A>T	c.(1246-1248)cAc>cTc	p.H416L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	416	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)		GACAGGCTGCACGATGTGCTG	0.517000													16	48					0	0	0.000958276	0	0
NMS	129521	broad.mit.edu	37	2	101093863	101093863	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:101093863C>T	ENST00000376865.1	+	5	255	c.248C>T	c.(247-249)cCa>cTa	p.P83L		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	83					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GCAACACATCCAGTTAAAACT	0.378000													13	25					0	0	0.000308642	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			54	109					1.95512e-22	2.11983e-21	0.000781405	1	0
CPT1A	1374	broad.mit.edu	37	11	68542792	68542792	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:68542792G>A	ENST00000265641.5	-	13	1721	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	CPT1A_ENST00000376618.2_Missense_Mutation_p.P523S|CPT1A_ENST00000540367.1_Missense_Mutation_p.P523S|CPT1A_ENST00000539743.1_Missense_Mutation_p.P523S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	523					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTCCCCCGGGATGTCCCAC	0.522000													22	80					0	0	0.000878237	0	0
F8	2157	broad.mit.edu	37	X	154157027	154157027	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:154157027C>T	ENST00000360256.4	-	14	5238	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1680					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGTCAATTTCCTCTTGATCT	0.408000													7	58					0	0	0.000274275	0	0
COLEC12	81035	broad.mit.edu	37	18	346919	346919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:346919G>A	ENST00000400256.3	-	5	910	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	235					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGATTCGCTGGATAGCCTGG	0.507000													33	78					0	0	0.000692331	0	0
GCDH	2639	broad.mit.edu	37	19	13007022	13007022	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:13007022C>T	ENST00000222214.5	+	8	850	c.639C>T	c.(637-639)atC>atT	p.I213I	GCDH_ENST00000591470.1_Silent_p.I213I|GCDH_ENST00000422947.2_Silent_p.I169I|GCDH_ENST00000457854.1_Silent_p.I213I			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	213					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TCCCCAGGATCACGAACTCGC	0.612000													8	37					0	0	0.000157383	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253522	48253522	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:48253522C>T	ENST00000246802.5	+	3	415	c.377C>T	c.(376-378)tCc>tTc	p.S126F	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	126						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GAGAACACATCCAAAGTCCCT	0.542000													10	21					0	0	0.000151284	0	0
SLIT2	9353	broad.mit.edu	37	4	20555511	20555511	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:20555511G>A	ENST00000504154.1	+	26	2897	c.2645G>A	c.(2644-2646)gGa>gAa	p.G882E	SLIT2_ENST00000273739.5_Missense_Mutation_p.G886E|SLIT2_ENST00000503823.1_Missense_Mutation_p.G874E|SLIT2_ENST00000503837.1_Missense_Mutation_p.G878E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	882	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGGAGCCTGGAATTGCTCGT	0.423000													15	57					0	0	0.000566183	0	0
ASRGL1	80150	broad.mit.edu	37	11	62123802	62123802	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:62123802G>A	ENST00000415229.2	+	3	411	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	ASRGL1_ENST00000301776.5_Missense_Mutation_p.G66R|ASRGL1_ENST00000535727.1_Intron	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	66					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTAGGTTGTGGGTCTGTCTT	0.532000													25	50					0	0	0.000184323	0	0
ABCC10	89845	broad.mit.edu	37	6	43416634	43416634	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:43416634C>T	ENST00000244533.3	+	17	4250	c.3891C>T	c.(3889-3891)atC>atT	p.I1297I	ABCC10_ENST00000372530.4_Silent_p.I1325I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1325	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTGGCTATCATCCCCCAGG	0.562000													24	34					0	0	0.00106085	0	0
CMYA5	202333	broad.mit.edu	37	5	79032417	79032417	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:79032417G>T	ENST00000446378.2	+	2	7860	c.7829G>T	c.(7828-7830)aGa>aTa	p.R2610I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2610						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)		CCAGAAATCAGAGAAGCAAAG	0.428000													6	26					1.12685e-05	0.000119939	0.000274275	1	0
KLB	152831	broad.mit.edu	37	4	39439522	39439522	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:39439522A>G	ENST00000257408.4	+	3	1609	c.1512A>G	c.(1510-1512)cgA>cgG	p.R504R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	504	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGATCATACGAGAAAATGGTT	0.428000													13	41					0	0	0.000219431	0	0
KCNIP4	80333	broad.mit.edu	37	4	21699110	21699110	+	Translation_Start_Site	SNP	A	A	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:21699110A>C	ENST00000382148.3	-	0	287				RP11-556G22.2_ENST00000511835.1_RNA|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382152.2_Intron	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTTTGCCaataataataataa	0.403000													9	16					0	0	0.000274275	0	0
TTBK2	146057	broad.mit.edu	37	15	43045125	43045125	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:43045125G>A	ENST00000267890.6	-	14	2427	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	773					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTCCCCAGGGAGATTTTCAA	0.398000													43	95					0	0	0.000374591	0	0
CPNE7	27132	broad.mit.edu	37	16	89662951	89662951	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:89662951G>A	ENST00000268720.5	+	17	1954	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.E533E	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	608					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGGTGGTGGAGTACTACAGCC	0.667000													17	38					0	0	0.00074312	0	0
ZNF653	115950	broad.mit.edu	37	19	11609136	11609136	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:11609136G>A	ENST00000585656.1	-	2	229	c.230C>T	c.(229-231)tCc>tTc	p.S77F	ZNF653_ENST00000593191.1_5'UTR|ZNF653_ENST00000293771.5_Silent_p.V106V																							GCTTTTTGGGGACCTGCTCCC	0.587000													31	110					0	0	0.000953801	0	0
C3orf72	401089	broad.mit.edu	37	3	138668406	138668406	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:138668406C>T	ENST00000383165.3	+	2	276	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	49										large_intestine(1)|lung(3)	4						TGCGTGCACCCTGGGAAGGGC	0.532000													5	33					0	0	0.000602214	0	0
RPAP1	26015	broad.mit.edu	37	15	41819162	41819162	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:41819162G>A	ENST00000304330.4	-	14	1967	c.1851C>T	c.(1849-1851)ccC>ccT	p.P617P	RPAP1_ENST00000561603.1_Silent_p.P617P	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	617						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)		CAGTAGCACAGGGTACTTTGT	0.567000													37	74					0	0	0.000814825	0	0
KCNH5	27133	broad.mit.edu	37	14	63316527	63316527	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:63316527G>A	ENST00000322893.7	-	8	1681	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	KCNH5_ENST00000420622.2_Silent_p.F471F|KCNH5_ENST00000394968.1_Silent_p.F413F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	471					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATTTGCTGGAAAATTGTTG	0.348000													10	51					0	0	0.000673444	0	0
CTXN3	613212	broad.mit.edu	37	5	126993360	126993360	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:126993360C>T	ENST00000379445.3	+	3	698	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Silent_p.F49F	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	49						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCCGGTGCTTCCGGATTCTTT	0.468000													15	42					0	0	0.000308642	0	0
ZFAT	57623	broad.mit.edu	37	8	135577646	135577646	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:135577646G>A	ENST00000520727.1	-	12	3169	c.2870C>T	c.(2869-2871)aCg>aTg	p.T957M	ZFAT_ENST00000520214.1_Missense_Mutation_p.T957M|ZFAT_ENST00000523399.1_Missense_Mutation_p.T907M|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.T957M|ZFAT_ENST00000377838.3_Missense_Mutation_p.T969M|ZFAT_ENST00000520356.1_Missense_Mutation_p.T957M	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCACACACCGTGCACTTAAA	0.567000													7	63					0	0	0.000157383	0	0
ARID2	196528	broad.mit.edu	37	12	46244796	46244796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:46244796G>T	ENST00000334344.6	+	15	3062	c.2890G>T	c.(2890-2892)Gga>Tga	p.G964*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.G574*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.G815*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	964	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)		TCAGCTAACTGGACAACCTAA	0.483000			"""N, S, F"""		hepatocellular carcinoma								26	80					2.41591e-17	2.61639e-16	0.000720815	1	0
CA2	760	broad.mit.edu	37	8	86389382	86389382	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:86389382C>T	ENST00000285379.5	+	6	771	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	181					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTTCGATCCTCGTGGCCTCCT	0.507000													19	148					0	0	0.000175454	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014159	58014159	+	Silent	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:58014159G>T	ENST00000379218.2	+	1	467	c.156G>T	c.(154-156)ccG>ccT	p.P52P	SLC26A10_ENST00000320442.4_Silent_p.P52P			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	52						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCGTGCCCCCGGTGTTTGGAC	0.562000													8	484					0.000442599	0.00466285	0.000442599	1	0
C10orf68	79741	broad.mit.edu	37	10	33103331	33103331	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:33103331G>A	ENST00000375028.3	+	10	942	c.872G>A	c.(871-873)gGa>gAa	p.G291E	C10orf68_ENST00000375025.4_Missense_Mutation_p.G351E|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	315										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GATGCATTTGGAAGAGATATA	0.328000													31	231					0	0	0.00058488	0	0
CD14	929	broad.mit.edu	37	5	140011580	140011580	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140011580G>A	ENST00000302014.6	-	2	1618	c.989C>T	c.(988-990)cCc>cTc	p.P330L	CD14_ENST00000401743.2_Missense_Mutation_p.P330L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	330					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAGGAAGGGATTCCCGTC	0.642000													5	18					0	0	0.000602214	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055707	68055707	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:68055707G>A	ENST00000496687.1	+	0	335				FAM19A1_ENST00000478136.1_Intron			Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1							endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CATCAGTGGGGCTGACTGAGC	0.507000													5	22					0	0	0.000602214	0	0
ENPP5	59084	broad.mit.edu	37	6	46135640	46135640	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:46135640C>T	ENST00000371383.2	-	3	620	c.360G>A	c.(358-360)gcG>gcA	p.A120A	ENPP5_ENST00000230565.3_Silent_p.A120A			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	120						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATATTGGTGTCGCTTCTTCCC	0.408000													10	115					0	0	0.000442599	0	0
GPHN	10243	broad.mit.edu	37	14	67490378	67490378	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:67490378A>G	ENST00000478722.1	+	10	2113	c.992A>G	c.(991-993)aAc>aGc	p.N331S	GPHN_ENST00000315266.5_Missense_Mutation_p.N298S|GPHN_ENST00000543237.1_Missense_Mutation_p.N344S|GPHN_ENST00000459628.1_Missense_Mutation_p.N313S|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.N267S	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	298	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGCAAGGAGAACATTCTCAGA	0.378000			T	MLL	AL								6	21					0	0	0.000157383	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802432	185802432	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:185802432G>A	ENST00000302277.6	+	4	2903	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	770						intracellular	zinc ion binding	p.R770Q(2)		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						AGATTCTATCGAAAACGTAGA	0.333000													22	77					0	0	0.000295444	0	0
TCERG1	10915	broad.mit.edu	37	5	145872509	145872509	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:145872509G>A	ENST00000296702.5	+	15	2177	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	TCERG1_ENST00000394421.2_Silent_p.R692R	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	713					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGACCAGGGCAGAGGAAG	0.313000													4	26					0	0	0.00024832	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114968	124114968	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:124114968G>A	ENST00000424014.2	-	3	436	c.228C>T	c.(226-228)atC>atT	p.I76I	EIF2B1_ENST00000539951.1_Silent_p.I63I|EIF2B1_ENST00000537073.1_Silent_p.I76I|EIF2B1_ENST00000543940.1_5'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	76					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGGCAAGACTGATGAAGCGGA	0.537000													6	37					0	0	8.12818e-05	0	0
DNAH3	55567	broad.mit.edu	37	16	21011627	21011627	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:21011627C>T	ENST00000261383.3	-	43	6339	c.6340G>A	c.(6340-6342)Gat>Aat	p.D2114N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2114	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGATGATATCCTGGGTCTGA	0.512000													15	49					0	0	0.000308642	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994088	140994088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:140994088C>T	ENST00000285879.4	+	4	1184	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	300							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCCTCT	0.488000										HNSCC(15;0.026)			50	153					0	0	0.000781405	0	0
PELI3	246330	broad.mit.edu	37	11	66239885	66239885	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:66239885C>T	ENST00000349459.6	+	4	612	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PELI3_ENST00000320740.7_Missense_Mutation_p.R134W|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Missense_Mutation_p.R134W	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	134						cytosol	protein binding	p.R134R(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TACACTGTCCCGGAGCCACTC	0.542000													9	46					0	0	0.000673444	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532481	76532481	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:76532481T>C	ENST00000307431.8	+	16	2637	c.2252T>C	c.(2251-2253)tTg>tCg	p.L751S	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L703S|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L755S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L679S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	752	Fibrinogen C-terminal.				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						GACACTGGATTGCTTGCTTAT	0.383000													11	48					0	0	0.000219431	0	0
ERAL1	26284	broad.mit.edu	37	17	27185489	27185489	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:27185489C>T	ENST00000254928.5	+	6	793	c.696C>T	c.(694-696)gtC>gtT	p.V232V		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	232	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TCCCTAGTGTCCTGGTCATGA	0.547000													10	53					0	0	0.000442599	0	0
MXD1	4084	broad.mit.edu	37	2	70164402	70164402	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:70164402A>G	ENST00000264444.2	+	5	614	c.354A>G	c.(352-354)caA>caG	p.Q118Q	MXD1_ENST00000540449.1_Silent_p.Q108Q	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	118					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CCGTTCACCAAATCGACCAGC	0.557000													37	110					0	0	0.000814825	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034789	16034789	+	Missense_Mutation	SNP	G	G	A	rs147948717		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:16034789G>A	ENST00000326742.7	-	6	752	c.751C>T	c.(751-753)Cct>Tct	p.P251S	CYP4F11_ENST00000248041.7_Missense_Mutation_p.P251S|CYP4F11_ENST00000402119.3_Missense_Mutation_p.P251S			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	251					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						TGCCCATCAGGAGTGAGATAA	0.557000													26	74					0	0	0.000586117	0	0
KCNH3	23416	broad.mit.edu	37	12	49938144	49938144	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:49938144G>A	ENST00000257981.6	+	7	1428	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	390					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGAGAGCAGCGAATCCGAGCT	0.622000													10	40					0	0	0.000673444	0	0
MEGF6	1953	broad.mit.edu	37	1	3511917	3511917	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:3511917C>T	ENST00000356575.4	-	3	587	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	121	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGGCAGCCCTCCTCGTCGGGC	0.667000													7	46					0	0	0.000274275	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031079	52031079	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:52031079C>T	ENST00000346477.3	-	6	1130	c.1062G>A	c.(1060-1062)gtG>gtA	p.V354V	SIGLEC6_ENST00000436458.1_Silent_p.V318V|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000425629.3_Silent_p.V370V	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	370					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TTCTAGTCTTCACTCTGAGGG	0.502000													18	84					0	0	0.000958276	0	0
CUX2	23316	broad.mit.edu	37	12	111779730	111779730	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:111779730G>A	ENST00000261726.6	+	21	3686	c.3532G>A	c.(3532-3534)Gag>Aag	p.E1178K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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						GCTGGCACCCGAGGAGAAGGA	0.652000													12	52					0	0	0.000219431	0	0
MUC17	140453	broad.mit.edu	37	7	100677404	100677404	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:100677404C>A	ENST00000306151.4	+	3	2771	c.2707C>A	c.(2707-2709)Cgt>Agt	p.R903S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	903	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)					TACTGAAGCCCGTTCGTCTCC	0.527000													8	291					0.000442599	0.00466285	0.000442599	1	0
F8	2157	broad.mit.edu	37	X	154156856	154156856	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:154156856G>A	ENST00000360256.4	-	14	5409	c.5209C>T	c.(5209-5211)Cta>Tta	p.L1737L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1737	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGTTTCTTAGAACATGTGGG	0.428000													6	19					0	0	8.12818e-05	0	0
TRPV6	55503	broad.mit.edu	37	7	142571240	142571240	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142571240C>G	ENST00000359396.3	-	13	1994	c.1749G>C	c.(1747-1749)tgG>tgC	p.W583C		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	583					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGGCCACTCGCCAGTGAGTGT	0.597000													24	72					0	0	0.00047179	0	0
WDR49	151790	broad.mit.edu	37	3	167272581	167272581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:167272581C>T	ENST00000308378.3	-	6	962	c.657G>A	c.(655-657)tgG>tgA	p.W219*	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Nonsense_Mutation_p.W272*|WDR49_ENST00000476376.1_Nonsense_Mutation_p.W44*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	219										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						CATTGAAGTCCCATATCTTTA	0.318000													9	61					0	0	0.000442599	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095473	107095473	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:107095473G>A	ENST00000390630.2	-	0	147																											TGGGATCAGAGGCACCTCCCA	0.597000													4	43					0	0	0.00024832	0	0
OR10A3	26496	broad.mit.edu	37	11	7960357	7960357	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:7960357G>A	ENST00000360759.3	-	1	784	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGGAAAAGGCCTTTTGTC	0.443000													20	38					0	0	0.000175454	0	0
GSDMC	56169	broad.mit.edu	37	8	130789704	130789704	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:130789704C>T	ENST00000276708.4	-	2	1011	c.130G>A	c.(130-132)Gat>Aat	p.D44N		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	44						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAACGAGAATCCTTCTTCTTT	0.398000													9	77					0	0	0.000442599	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941212	52941212	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:52941212T>C	ENST00000394752.3	-	19	2586	c.2204A>G	c.(2203-2205)aAg>aGg	p.K735R	SFMBT1_ENST00000296295.6_Missense_Mutation_p.K735R|SFMBT1_ENST00000358080.2_Missense_Mutation_p.K735R|SFMBT1_ENST00000394750.1_Missense_Mutation_p.K735R	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	735					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGAGCATGACTTTTTTTCTGA	0.468000													34	110					0	0	0.000953801	0	0
SYT3	84258	broad.mit.edu	37	19	51129210	51129210	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51129210G>A	ENST00000338916.4	-	5	1979	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	SYT3_ENST00000600079.1_Missense_Mutation_p.T449I|SYT3_ENST00000593901.1_Missense_Mutation_p.T449I|SYT3_ENST00000544769.1_Missense_Mutation_p.T449I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	449	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GATGGTCACGGTGAGGCGCCC	0.587000													9	38					0	0	0.000978159	0	0
COL4A4	1286	broad.mit.edu	37	2	227922198	227922198	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:227922198C>T	ENST00000396625.3	-	29	2709	c.2502G>A	c.(2500-2502)ggG>ggA	p.G834G	COL4A4_ENST00000329662.7_Silent_p.G834G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	834	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCCTGGTATCCCTGGAGCAC	0.542000													8	13					0	0	0.000274275	0	0
CRIM1	51232	broad.mit.edu	37	2	36706774	36706774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:36706774G>A	ENST00000280527.2	+	7	1676	c.1309G>A	c.(1309-1311)Gtc>Atc	p.V437I		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	437	VWFC 2.				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)				CGTTGCGACCGTCTGCGGACA	0.577000													24	45					0	0	0.000227799	0	0
ALPK2	115701	broad.mit.edu	37	18	56202686	56202686	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:56202686C>G	ENST00000361673.3	-	5	4946	c.4733G>C	c.(4732-4734)cGt>cCt	p.R1578P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1578							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						CACATACTGACGCTTTCTGGG	0.468000													11	94					0	0	0.000151284	0	0
IGSF10	285313	broad.mit.edu	37	3	151166395	151166395	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:151166395G>A	ENST00000282466.3	-	4	1373	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	458					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)			TTGGTAAAGTGATTTGAGCAT	0.423000													22	70					0	0	0.000295444	0	0
KRT8	3856	broad.mit.edu	37	12	53292506	53292506	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:53292506C>T	ENST00000552551.1	-	7	1591	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	KRT8_ENST00000546897.1_Missense_Mutation_p.E387K|KRT8_ENST00000552150.1_Missense_Mutation_p.E415K|KRT8_ENST00000293308.6_Missense_Mutation_p.E387K			P05787	K2C8_HUMAN	keratin 8	387	Coil 2.|Rod.			E -> D (in Ref. 2; AAA35748).	cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGCGATCTCGATGTCCAGG	0.667000													13	62					0	0	0.000566183	0	0
PIPSL	266971	broad.mit.edu	37	10	95720581	95720581	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:95720581C>T	ENST00000480546.1	-	0	716					NR_002319.2																						AAAGATTGTTCATCACCACAA	0.463000													19	34					0	0	0.000175454	0	0
TNXB	7148	broad.mit.edu	37	6	32017064	32017064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:32017064G>A	ENST00000375244.3	-	28	9941	c.9740C>T	c.(9739-9741)tCc>tTc	p.S3247F	TNXB_ENST00000375247.2_Missense_Mutation_p.S3245F			P22105	TENX_HUMAN	tenascin XB	3292	Fibronectin type-III 24.				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						GCCCACGGTGGACACTGGGCC	0.647000													29	122					0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9056883	9056883	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9056883G>A	ENST00000397910.4	-	3	30766	c.30563C>T	c.(30562-30564)tCt>tTt	p.S10188F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10190	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						CCCAGGAGAAGAAGGTGTATT	0.463000													5	35					0	0	3.59834e-05	0	0
KCNT1	57582	broad.mit.edu	37	9	138660731	138660731	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:138660731C>T	ENST00000298480.5	+	15	1532	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	KCNT1_ENST00000491806.2_Silent_p.P453P|KCNT1_ENST00000371757.2_Silent_p.P486P|KCNT1_ENST00000263604.3_Silent_p.P467P|KCNT1_ENST00000490355.2_Silent_p.P467P|KCNT1_ENST00000487664.1_Silent_p.P441P|KCNT1_ENST00000488444.2_Silent_p.P467P|KCNT1_ENST00000486577.2_Silent_p.P447P			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	486						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAACTGCCCCCTCTACGTCC	0.627000													5	30					0	0	3.59834e-05	0	0
ASPM	259266	broad.mit.edu	37	1	197073111	197073111	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:197073111G>A	ENST00000367409.4	-	18	5526	c.5270C>T	c.(5269-5271)tCa>tTa	p.S1757L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1757	IQ 6.|IQ 7.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGACTGTAGTGAAATAACAGC	0.358000													18	14					0	0	0.000958276	0	0
MYO15A	51168	broad.mit.edu	37	17	18023624	18023624	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:18023624C>T	ENST00000205890.5	+	2	1848	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	504	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			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)					TCTGGACATTCCTCTCCCCTT	0.647000													12	26					0	0	0.000151284	0	0
UTP14A	10813	broad.mit.edu	37	X	129058844	129058844	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:129058844G>A	ENST00000394422.3	+	12	1450	c.1422G>A	c.(1420-1422)agG>agA	p.R474R	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.R420R|UTP14A_ENST00000425117.2_Silent_p.R422R|UTP14A_ENST00000371042.3_Silent_p.R306R	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	474					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ATCAGTCCAGGAAGCAAAAAG	0.493000													52	152					0	0	0.000781405	0	0
MGAT2	4247	broad.mit.edu	37	14	50089149	50089149	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:50089149C>T	ENST00000305386.2	+	1	1661	c.1163C>T	c.(1162-1164)cCa>cTa	p.P388L	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	388					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACCTGTAGACCATCCACTCAG	0.393000													14	64					0	0	0.000151284	0	0
SCN2A	6326	broad.mit.edu	37	2	166179817	166179817	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:166179817G>A	ENST00000375437.2	+	12	2113	c.1823G>A	c.(1822-1824)aGa>aAa	p.R608K	SCN2A_ENST00000375427.2_Missense_Mutation_p.R608K|SCN2A_ENST00000357398.3_Missense_Mutation_p.R608K|SCN2A_ENST00000283256.6_Missense_Mutation_p.R608K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	608					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GACAGCCGAAGAGACTCTCTG	0.562000													5	33					0	0	0.000602214	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211469	35211469	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:35211469G>A	ENST00000274938.7	+	16	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D686N	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	670					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCTCTCCTGCGACCTTTGCCC	0.622000													23	49					0	0	0.000878237	0	0
DNAH6	1768	broad.mit.edu	37	2	84784929	84784929	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:84784929C>T	ENST00000389394.3	+	11	1810	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	DNAH6_ENST00000398278.2_Missense_Mutation_p.S558L|DNAH6_ENST00000237449.6_Missense_Mutation_p.S558L	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	558	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S558*(1)|p.S137*(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGCCTGATTCGTATTTTGAT	0.378000													53	98					0	0	0.000781405	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519297	50519297	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:50519297A>T	ENST00000267842.5	+	7	1611	c.1379A>T	c.(1378-1380)tAt>tTt	p.Y460F	SLC27A2_ENST00000380902.4_Missense_Mutation_p.Y407F|SLC27A2_ENST00000544960.1_Missense_Mutation_p.Y225F	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	460					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGAGACCTCTATTTCAACAGT	0.383000													23	38					0	0	0.000375601	0	0
PLXNA3	55558	broad.mit.edu	37	X	153693375	153693375	+	Silent	SNP	C	C	T	rs111936718		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:153693375C>T	ENST00000369682.3	+	11	2233	c.2058C>T	c.(2056-2058)atC>atT	p.I686I		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	686					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCTGAGATCCTGCCCAGTG	0.612000													6	7					0	0	0.000157383	0	0
GRIN3A	116443	broad.mit.edu	37	9	104340058	104340058	+	Silent	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:104340058C>A	ENST00000361820.3	-	8	3600	c.3000G>T	c.(2998-3000)gtG>gtT	p.V1000V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1000					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	ACCTCTTTTCCACACGTTTGG	0.343000													21	73					5.26018e-13	5.67684e-12	0.000229342	1	0
TRHDE	29953	broad.mit.edu	37	12	73015511	73015511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:73015511G>A	ENST00000261180.4	+	15	2616	c.2520G>A	c.(2518-2520)tgG>tgA	p.W840*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	840					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.W840C(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						TTTCAGATTGGATTTCCAGCA	0.388000													6	18					0	0	3.59834e-05	0	0
THSD7B	80731	broad.mit.edu	37	2	138417269	138417269	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:138417269C>T	ENST00000409968.1	+	25	4589	c.4411C>T	c.(4411-4413)Cgg>Tgg	p.R1471W	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1443W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1474W|THSD7B_ENST00000543459.1_Silent_p.F305F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCTGCCATTCGGCAGTGCAT	0.443000													6	7					0	0	0.000274275	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515473	140515473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140515473C>T	ENST00000231134.5	+	1	674	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		153	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTGTGTTTCCCTTAAAAAT	0.463000													9	52					0	0	0.000673444	0	0
TMEM87A	25963	broad.mit.edu	37	15	42523438	42523438	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:42523438G>A	ENST00000389834.4	-	12	1347	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	TMEM87A_ENST00000448392.1_Silent_p.S300S	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	361						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TAAAGGCCAAGGAAGCAAGAT	0.458000													8	43					0	0	0.000274275	0	0
NOS1	4842	broad.mit.edu	37	12	117693801	117693801	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:117693801G>A	ENST00000338101.4	-	16	2577	c.2573C>T	c.(2572-2574)cCc>cTc	p.P858L	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATTGGGGAGGGGAGGCCCTTT	0.592000													23	69					0	0	0.00106085	0	0
GLG1	2734	broad.mit.edu	37	16	74508513	74508513	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:74508513C>T	ENST00000422840.2	-	13	1982	c.1983G>A	c.(1981-1983)caG>caA	p.Q661Q	GLG1_ENST00000447066.2_Silent_p.Q650Q|GLG1_ENST00000205061.5_Silent_p.Q661Q	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	661						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						CCAGATGGTCCTGAAGGCACT	0.463000													29	149					0	0	0.000409698	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456106	84456106	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:84456106C>T	ENST00000416219.2	+	8	824	c.735C>T	c.(733-735)atC>atT	p.I245I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I245I			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	245					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCAGCAACATCGTCTTCATGG	0.602000													6	54					0	0	3.59834e-05	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661001	8661001	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:8661001G>A	ENST00000270328.4	-	10	1559	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	ADAMTS10_ENST00000597188.1_Silent_p.F431F			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	431	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATGACCACACGAATGGGTTGG	0.592000													22	71					0	0	0.000375601	0	0
OR4M2	390538	broad.mit.edu	37	15	22369022	22369022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:22369022G>A	ENST00000332663.2	+	1	545	c.447G>A	c.(445-447)tgG>tgA	p.W149*	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTCTCCTGGAGGGGGGGCT	0.502000													10	147					0	0	0.000442599	0	0
XIST	7503	broad.mit.edu	37	X	73065887	73065887	+	RNA	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:73065887C>G	ENST00000429829.1	-	0	6701					NR_001564.2																						ATTGTCCAAACGTAAGCGTCT	0.502000													20	66					0	0	0.000586117	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462043	50462043	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:50462043C>T	ENST00000447370.2	-	7	1310	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACGGTCTGTCCCCACCGGGT	0.682000													19	50					0	0	0.000132079	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	16					0	0	0.00024832	0	0
NISCH	11188	broad.mit.edu	37	3	52506374	52506374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:52506374C>T	ENST00000345716.4	+	6	763	c.629C>T	c.(628-630)cCg>cTg	p.P210L	NISCH_ENST00000479054.1_Missense_Mutation_p.P210L|NISCH_ENST00000488380.1_Missense_Mutation_p.P210L|NISCH_ENST00000420808.2_Missense_Mutation_p.P210L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	210	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGCTCCTGCCGTTCGACCTA	0.527000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	88					0	0	0.000692331	0	0
THOC2	57187	broad.mit.edu	37	X	122820484	122820484	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:122820484A>T	ENST00000245838.8	-	8	713	c.682T>A	c.(682-684)Ttt>Att	p.F228I	THOC2_ENST00000491737.1_Missense_Mutation_p.F113I|THOC2_ENST00000355725.4_Missense_Mutation_p.F228I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	228					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAGATATAAAGAAGTCATCG	0.368000													37	147					0	0	0.000814825	0	0
HNF1B	6928	broad.mit.edu	37	17	36093634	36093634	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:36093634G>A	ENST00000225893.4	-	3	1086	c.725C>T	c.(724-726)tCc>tTc	p.S242F	HNF1B_ENST00000427275.2_Missense_Mutation_p.S216F|HNF1B_ENST00000560016.1_Missense_Mutation_p.S242F|HNF1B_ENST00000561193.1_Missense_Mutation_p.S216F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	242					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GATTTGCTGGGACGCGGGCCC	0.567000													51	284					0	0	0.000781405	0	0
LMF1	64788	broad.mit.edu	37	16	920852	920852	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:920852G>A	ENST00000262301.11	-	8	1127	c.1109C>T	c.(1108-1110)tCg>tTg	p.S370L	LMF1_ENST00000543238.1_Missense_Mutation_p.S133L|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Missense_Mutation_p.S153L|LMF1_ENST00000399843.2_Missense_Mutation_p.S370L	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	370						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)				GACGCCCAGCGAGACGTTGGC	0.657000													6	14					0	0	3.59834e-05	0	0
CACHD1	57685	broad.mit.edu	37	1	65145291	65145291	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:65145291C>T	ENST00000371073.2	+	24	3258	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	CACHD1_ENST00000290039.5_Silent_p.I1035I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1086					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATGAGGTGATCACATTAAACA	0.493000													28	72					0	0	0.000279167	0	0
CDH26	60437	broad.mit.edu	37	20	58562670	58562670	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:58562670G>A	ENST00000348616.4	+	8	1300	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CDH26_ENST00000244047.5_Missense_Mutation_p.E334K	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGAGACCAACGAAGGGATATT	0.438000													7	42					0	0	0.000442599	0	0
ITM2C	81618	broad.mit.edu	37	2	231742169	231742169	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:231742169G>A	ENST00000326427.6	+	5	742	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ITM2C_ENST00000335005.6_Missense_Mutation_p.E159K|ITM2C_ENST00000409704.2_Missense_Mutation_p.E144K|ITM2C_ENST00000326407.6_Missense_Mutation_p.E169K	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	206	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGTGGTCACGGAGCATGTCAG	0.627000													14	41					0	0	0.000219431	0	0
OR5P2	120065	broad.mit.edu	37	11	7817638	7817638	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:7817638C>T	ENST00000329434.2	-	1	882	c.852G>A	c.(850-852)ctG>ctA	p.L284L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCTGTAGATCAGGGGGTTCA	0.413000													14	40					0	0	0.000219431	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930827	54930827	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:54930827C>T	ENST00000474759.1	+	26	2346	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	CACNA2D3_ENST00000288197.5_Silent_p.F766F|CACNA2D3_ENST00000490478.1_Silent_p.F672F|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.F766F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	766						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGACCATTTCCCTCTCTGGT	0.512000													33	75					0	0	0.000491102	0	0
CLTCL1	8218	broad.mit.edu	37	22	19195804	19195804	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:19195804C>G	ENST00000263200.10	-	22	3532	c.3460G>C	c.(3460-3462)Gtt>Ctt	p.V1154L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.V1154L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.V1154L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1154	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGAAATTTAACTAGATCCTCC	0.423000			T	?	ALCL								20	91					0	0	0.000295444	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22670507	22670507	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:22670507C>T	ENST00000390460.1	+	0	31																											TACTGTACTCCTATCTTTGGG	0.443000													6	24					0	0	3.59834e-05	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645383	122645383	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:122645383A>C	ENST00000195173.4	-	9	1295	c.992T>G	c.(991-993)cTg>cGg	p.L331R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.L385R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.L331R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	331	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTCCTCCAGCAGGAATCGGCC	0.617000													4	19					0	0	0.000602214	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832350	45832350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:45832350C>T	ENST00000314134.3	+	2	1955	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	SLC35C1_ENST00000456334.1_Nonsense_Mutation_p.Q174*|SLC35C1_ENST00000442528.2_Nonsense_Mutation_p.Q174*	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	187						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTGTGGACCAGGAGGGGGC	0.627000													9	38					0	0	0.000442599	0	0
KSR2	283455	broad.mit.edu	37	12	117962863	117962863	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:117962863G>A	ENST00000425217.1	-	14	1980	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	KSR2_ENST00000339824.5_Silent_p.L671L|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.L368L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	671					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTTCCAATGAGCTCGCCGA	0.622000													8	33					0	0	0.000274275	0	0
OR8H2	390151	broad.mit.edu	37	11	55873002	55873002	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55873002T>C	ENST00000313503.1	+	1	484	c.484T>C	c.(484-486)Tcc>Ccc	p.S162P		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAACGTGGTTTCCATGAGCAG	0.428000										HNSCC(53;0.14)			37	125					0	0	0.000953801	0	0
GABRG2	2566	broad.mit.edu	37	5	161520913	161520913	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:161520913G>A	ENST00000356592.3	+	2	647	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.E63K|GABRG2_ENST00000361925.4_Missense_Mutation_p.E63K	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	63					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.E63K(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAAAGTTCCTGAGGGTGATGT	0.388000													5	37					0	0	3.59834e-05	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360237	71360237	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:71360237A>G	ENST00000244230.2	+	2	651	c.299A>G	c.(298-300)aAt>aGt	p.N100S	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N100S|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	100					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAACAATTAATGATGAAGAT	0.373000													12	43					0	0	0.000978159	0	0
ATP13A5	344905	broad.mit.edu	37	3	193080362	193080362	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:193080362T>A	ENST00000342358.4	-	4	566	c.449A>T	c.(448-450)aAa>aTa	p.K150I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	150					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|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;0.000307)		TTACCCAACTTTCTGAAACCG	0.443000													43	103					0	0	0.000781405	0	0
OGT	8473	broad.mit.edu	37	X	70779216	70779216	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:70779216C>T	ENST00000373719.3	+	13	1919	c.1702C>T	c.(1702-1704)Cat>Tat	p.H568Y	OGT_ENST00000373701.3_Missense_Mutation_p.H558Y	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	568					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTTGGGAATCATCCTACTTC	0.388000													17	52					0	0	0.00074312	0	0
CPA2	1358	broad.mit.edu	37	7	129909563	129909563	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:129909563C>T	ENST00000222481.4	+	3	263	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	70					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CGTCCGAGTTCCCTTCGTCAA	0.498000													23	45					0	0	0.000586117	0	0
KCTD19	146212	broad.mit.edu	37	16	67327570	67327570	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:67327570G>A	ENST00000304372.5	-	12	2150	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	699						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTGCCTGTGGTCCTGGATCC	0.617000													11	67					0	0	0.000151284	0	0
PKP2	5318	broad.mit.edu	37	12	32945371	32945371	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:32945371G>A	ENST00000340811.4	-	13	2609	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	PKP2_ENST00000070846.6_Missense_Mutation_p.S878F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	878					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCTTTAAGGGAGTGGTAGGC	0.423000													6	65					0	0	0.000274275	0	0
CA10	56934	broad.mit.edu	37	17	50008490	50008490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:50008490G>A	ENST00000451037.2	-	3	1079	c.139C>T	c.(139-141)Cct>Tct	p.P47S	CA10_ENST00000340813.6_Missense_Mutation_p.P53S|CA10_ENST00000285273.4_Missense_Mutation_p.P47S|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.P47S	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	47					brain development			p.P47S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CAGAAAGAAGGAACTAGAAAC	0.428000													4	22					0	0	0.00024832	0	0
ARMC4	55130	broad.mit.edu	37	10	28149619	28149619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:28149619C>T	ENST00000305242.5	-	19	3048	c.2956G>A	c.(2956-2958)Gcc>Acc	p.A986T	ARMC4_ENST00000545014.1_Missense_Mutation_p.A511T|ARMC4_ENST00000537576.1_Missense_Mutation_p.A678T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	986							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGTACAAGGCCTGAGCTGTC	0.493000													14	54					0	0	0.000422831	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443520	5443520	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5443520C>T	ENST00000300778.4	+	1	180	c.90C>T	c.(88-90)tcC>tcT	p.S30S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGATCTCCATCCCCGTCT	0.517000													31	112					0	0	0.000227799	0	0
PSG6	5675	broad.mit.edu	37	19	43411155	43411155	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:43411155G>A	ENST00000187910.2	-	5	1224	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	PSG6_ENST00000402603.4_Missense_Mutation_p.H294Y|PSG6_ENST00000292125.2_Missense_Mutation_p.H387Y	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGCCCGCTATGATTTGTAGTA	0.453000													103	209					0	0	0.000781405	0	0
TAC3	6866	broad.mit.edu	37	12	57406635	57406635	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:57406635C>T	ENST00000458521.2	-	5	422	c.263G>A	c.(262-264)gGa>gAa	p.G88E	TAC3_ENST00000415231.1_Missense_Mutation_p.G88E|TAC3_ENST00000441881.1_Intron	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	88					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GCCCATAAGTCCCACAAAGAA	0.517000													14	58					0	0	0.000422831	0	0
TRIM2	23321	broad.mit.edu	37	4	154256063	154256063	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:154256063T>C	ENST00000338700.5	+	12	2326	c.2261T>C	c.(2260-2262)gTt>gCt	p.V754A	TRIM2_ENST00000437508.2_Missense_Mutation_p.V727A	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	727						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GATGGTCATGTTGTGGTTGCA	0.468000													6	31					0	0	0.000157383	0	0
TDP1	55775	broad.mit.edu	37	14	90429640	90429640	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:90429640C>T	ENST00000335725.4	+	3	432	c.182C>T	c.(181-183)tCa>tTa	p.S61L	TDP1_ENST00000555880.1_Missense_Mutation_p.S61L|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.S61L|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.S61L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	61					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGGAAAATATCACCTGTGAAA	0.507000								Repair of DNA-protein crosslinks					24	58					0	0	0.000586117	0	0
ARSF	416	broad.mit.edu	37	X	3007547	3007547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:3007547G>A	ENST00000381127.1	+	7	1062	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ARSF_ENST00000359361.2_Missense_Mutation_p.E281K|ARSF_ENST00000537104.1_Missense_Mutation_p.E281K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	281						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACAGTAAGGAAACTTTCCT	0.428000													17	90					0	0	0.000566183	0	0
DSC3	1825	broad.mit.edu	37	18	28609493	28609493	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:28609493G>A	ENST00000434452.1	-	4	610	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DSC3_ENST00000360428.4_Silent_p.F152F	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	152	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAACAATGGGAAAGGGCCCA	0.408000													10	43					0	0	0.000978159	0	0
FAM47B	170062	broad.mit.edu	37	X	34962878	34962878	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:34962878G>A	ENST00000329357.5	+	1	1966	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	644										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGCATCAAAAGAAGATTAGAT	0.383000													30	96					0	0	0.000339439	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206625	74206625	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:74206625G>A	ENST00000286523.5	-	2	869	c.87C>T	c.(85-87)ccC>ccT	p.P29P	ELMSAN1_ENST00000394071.2_Silent_p.P29P	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GCAGGGGAGGGGGCTGCTCCT	0.652000													10	40					0	0	0.000673444	0	0
CD5	921	broad.mit.edu	37	11	60885712	60885712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:60885712G>A	ENST00000347785.3	+	3	326	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	54	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTACCTCAAGGACGGATGGCA	0.617000													30	56					0	0	0.000339439	0	0
PAFAH2	5051	broad.mit.edu	37	1	26316033	26316033	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:26316033G>A	ENST00000374282.3	-	3	329	c.150C>T	c.(148-150)ccC>ccT	p.P50P	PAFAH2_ENST00000493892.1_Intron|PAFAH2_ENST00000374284.1_Silent_p.P50P	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	50					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GAATCCACAGGGGCTGCTCCA	0.582000													6	10					0	0	3.59834e-05	0	0
CFI	3426	broad.mit.edu	37	4	110663746	110663746	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:110663746C>T	ENST00000394634.2	-	12	1642	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	CFI_ENST00000394635.3_Missense_Mutation_p.E487K|CFI_ENST00000512148.1_Missense_Mutation_p.E472K	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	479	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTCTTTCGTTATCTAAA	0.338000													7	46					0	0	8.12818e-05	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211427	74211427	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:74211427G>A	ENST00000405086.2	-	16	2613	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	GTF2IRD2_ENST00000451013.2_Silent_p.T355T	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ccaatttcagggtgggaaagt	0.478000													50	149					0	0	0.000781405	0	0
TPD52L2	7165	broad.mit.edu	37	20	62500746	62500746	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:62500746G>T	ENST00000217121.5	+	2	189	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TPD52L2_ENST00000369927.4_Missense_Mutation_p.E16D|TPD52L2_ENST00000351424.4_Missense_Mutation_p.E39D|TPD52L2_ENST00000358548.4_Missense_Mutation_p.E39D|TPD52L2_ENST00000348257.5_Missense_Mutation_p.E39D|TPD52L2_ENST00000346249.4_Missense_Mutation_p.E39D|TPD52L2_ENST00000352482.4_Missense_Mutation_p.E39D	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	39					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTGCTGTTGAGGGTCTGACAG	0.552000													7	76					8.12818e-05	0.000862181	8.12818e-05	1	0
PHKA1	5255	broad.mit.edu	37	X	71813013	71813013	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:71813013C>T	ENST00000373545.3	-	29	3496	c.3058G>A	c.(3058-3060)Ggg>Agg	p.G1020R	PHKA1_ENST00000541944.1_Missense_Mutation_p.G990R|PHKA1_ENST00000373539.3_Missense_Mutation_p.G1079R|PHKA1_ENST00000339490.3_Missense_Mutation_p.G1049R|PHKA1_ENST00000373542.4_Missense_Mutation_p.G1062R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1062					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTCAGTGCCCCATCCAGCCTT	0.433000													17	54					0	0	0.000566183	0	0
SKP2	6502	broad.mit.edu	37	5	36181928	36181928	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:36181928G>A	ENST00000274255.6	+	10	1266	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	SKP2_ENST00000508514.1_Missense_Mutation_p.G150E|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Missense_Mutation_p.G143E	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	357					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGAACTTGGAGAAATTCCC	0.368000													38	126					0	0	0.000509022	0	0
PSG7	5676	broad.mit.edu	37	19	43433850	43433850	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:43433850G>A	ENST00000406070.2	-	0	549				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGTT	0.517000													58	99					0	0	0.000781405	0	0
SYNJ1	8867	broad.mit.edu	37	21	34045783	34045783	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr21:34045783C>T	ENST00000382499.2	-	14	1709	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K	SYNJ1_ENST00000357345.3_Silent_p.K531K|SYNJ1_ENST00000382491.3_Silent_p.K526K|SYNJ1_ENST00000433931.2_Silent_p.K570K|SYNJ1_ENST00000322229.7_Silent_p.K531K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	531	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCGAATTTTCTTAGGCTTTG	0.378000													11	13					0	0	0.000673444	0	0
CADPS2	93664	broad.mit.edu	37	7	122091462	122091462	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:122091462A>G	ENST00000334010.7	-	14	2678	c.2257T>C	c.(2257-2259)Tct>Cct	p.S753P	CADPS2_ENST00000449022.2_Missense_Mutation_p.S752P|CADPS2_ENST00000313070.7_Missense_Mutation_p.S749P|CADPS2_ENST00000412584.2_Missense_Mutation_p.S749P	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	752					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AAAAGGGAAGAGAGTCTCTCT	0.299000													5	25					0	0	8.12818e-05	0	0
C19orf45	374877	broad.mit.edu	37	19	7570468	7570468	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:7570468G>C	ENST00000361664.2	+	6	1102	c.961G>C	c.(961-963)Ggc>Cgc	p.G321R		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	321										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TTGGTGCCCCGGCCCCGGCAG	0.577000													7	36					0	0	0.000157383	0	0
FMNL2	114793	broad.mit.edu	37	2	153484861	153484861	+	Silent	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:153484861G>C	ENST00000288670.9	+	18	2581	c.2214G>C	c.(2212-2214)cgG>cgC	p.R738R	FMNL2_ENST00000475377.2_Silent_p.R113R	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	738	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase 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						GCTTGATGCGGTTCCTACCAA	0.463000													17	111					0	0	0.000958276	0	0
DNAH10	196385	broad.mit.edu	37	12	124325997	124325997	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:124325997G>A	ENST00000409039.3	+	29	4936	c.4911G>A	c.(4909-4911)gtG>gtA	p.V1637V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1637	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V229V(1)|p.V1637V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGGCGCGTGGAGGACTGGA	0.453000													30	110					0	0	0.000227799	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:168101234C>T	ENST00000409195.1	+	9	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S889L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1111L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	936					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAAGTTTCGTTAATGACC	0.368000													7	19					0	0	0.000157383	0	0
LAMB2	3913	broad.mit.edu	37	3	49167662	49167662	+	Splice_Site	SNP	A	A	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:49167662A>C	ENST00000418109.1	-	10	1390		c.e10+1		LAMB2_ENST00000305544.4_Splice_Site	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)						cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCAGCCTCACAGCGGCACA	0.592000													10	22					0	0	0.000442599	0	0
OR51A7	119687	broad.mit.edu	37	11	4929383	4929383	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4929383C>T	ENST00000359350.4	+	1	784	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCATGCATCACTTTGCCAA	0.488000													44	163					0	0	0.000781405	0	0
JUP	3728	broad.mit.edu	37	17	39775938	39775938	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:39775938C>T	ENST00000540235.1	-	11	1683	c.1684G>A	c.(1684-1686)Gtg>Atg	p.V562M	KRT17_ENST00000311208.8_Missense_Mutation_p.V403M			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGGGTGGTCACCGCTGCAGGA	0.627000													7	52					0	0	8.12818e-05	0	0
MYOCD	93649	broad.mit.edu	37	17	12666442	12666442	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:12666442G>C	ENST00000425538.1	+	14	2642	c.2442G>C	c.(2440-2442)aaG>aaC	p.K814N	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.K766N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	766					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	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|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)		AAGTCCCAAAGATACCCAGAT	0.483000													13	94					0	0	0.00010058	0	0
SCN7A	6332	broad.mit.edu	37	2	167319026	167319026	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:167319026C>T	ENST00000409855.1	-	9	1082	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	319					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACACATATCCTTCAGGACA	0.378000													10	40					0	0	0.000151284	0	0
VAT1L	57687	broad.mit.edu	37	16	78005767	78005767	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:78005767G>A	ENST00000302536.2	+	8	1251	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	366							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCATGCAGCGGATTCACGACC	0.517000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	206					0	0	0.000781405	0	0
CNTN1	1272	broad.mit.edu	37	12	41333180	41333180	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:41333180C>T	ENST00000551295.2	+	12	1389	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	CNTN1_ENST00000348761.2_Silent_p.I413I|CNTN1_ENST00000547849.1_Silent_p.I424I|CNTN1_ENST00000360099.3_Silent_p.I424I|CNTN1_ENST00000347616.1_Silent_p.I424I|CNTN1_ENST00000547702.1_Silent_p.I424I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	424	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				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)				AGAAAAAGATCCTGGCTGCTA	0.378000													8	26					0	0	0.000274275	0	0
CCNF	899	broad.mit.edu	37	16	2488085	2488085	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:2488085C>T	ENST00000397066.4	+	6	643	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	185					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACAAAGCATCCATATTGCACT	0.498000													15	50					0	0	0.00074312	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22780198	22780198	+	RNA	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:22780198G>A	ENST00000600260.1	+	0	276					NR_033899.1																						CACTCACCTGGAGATGTGAGT	0.517000													8	34					0	0	0.000442599	0	0
C2orf71	388939	broad.mit.edu	37	2	29293482	29293482	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:29293482C>T	ENST00000331664.5	-	1	3645	c.3646G>A	c.(3646-3648)Gaa>Aaa	p.E1216K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1216					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGCTGGGATTCATAAGAGGTG	0.602000													21	68					0	0	0.000375601	0	0
DEFB128	245939	broad.mit.edu	37	20	168682	168682	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:168682C>T	ENST00000334391.4	-	2	184	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	43					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CATCCTATTTCATATCTTTCT	0.373000													14	93					0	0	0.000566183	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144805	25144805	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:25144805C>T	ENST00000453498.1	+	0	346																											GGGTCCTGGTCCTGCCATGGG	0.463000													15	43					0	0	0.000219431	0	0
ROBO4	54538	broad.mit.edu	37	11	124765755	124765755	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:124765755C>T	ENST00000306534.3	-	5	1218	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.E100K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	245					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCACATTTTCCAGCTGAATT	0.597000													12	27					0	0	0.000978159	0	0
FRAS1	80144	broad.mit.edu	37	4	79173607	79173607	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:79173607G>A	ENST00000264895.6	+	5	811	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	FRAS1_ENST00000264899.6_Missense_Mutation_p.R124Q|FRAS1_ENST00000325942.6_Missense_Mutation_p.R124Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	124	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R124Q(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGGAAGTCCGATGTACCCCC	0.532000													7	45					0	0	0.000157383	0	0
PHF10	55274	broad.mit.edu	37	6	170110373	170110373	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:170110373G>A	ENST00000339209.4	-	9	1195	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	PHF10_ENST00000366780.4_Missense_Mutation_p.P356S	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	358					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GAACGTTTGGGACCATCTTTT	0.473000													29	72					0	0	0.000692331	0	0
PCLO	27445	broad.mit.edu	37	7	82581191	82581191	+	Silent	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:82581191A>G	ENST00000423517.2	-	5	9415	c.9078T>C	c.(9076-9078)acT>acC	p.T3026T	PCLO_ENST00000333891.8_Silent_p.T3026T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2957					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						CTCTCCCTGAAGTCAGATCTA	0.388000													8	42					0	0	0.000157383	0	0
ESRP1	54845	broad.mit.edu	37	8	95677408	95677408	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:95677408C>T	ENST00000433389.2	+	9	1105	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ESRP1_ENST00000358397.5_Silent_p.F305F|ESRP1_ENST00000423620.2_Silent_p.F305F|ESRP1_ENST00000454170.2_Silent_p.F305F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	305					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTGAAGATTTCCTTAAAATTG	0.358000													56	567					0	0	0.000781405	0	0
SERPINF2	5345	broad.mit.edu	37	17	1649093	1649093	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:1649093T>C	ENST00000324015.3	+	5	334	c.257T>C	c.(256-258)aTg>aCg	p.M86T	SERPINF2_ENST00000450523.2_Intron|SERPINF2_ENST00000382061.4_Missense_Mutation_p.M86T	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	86					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GCCCGGGCCATGATGGCCTTC	0.657000													15	39					0	0	0.000422831	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6981711	6981711	+	RNA	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:6981711C>T	ENST00000600751.1	-	0	453					NR_024075.1																						CCAGCTGTTTCCCAAATCCAG	0.418000													5	24					0	0	0.000602214	0	0
PDE3A	5139	broad.mit.edu	37	12	20833091	20833091	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:20833091G>A	ENST00000359062.3	+	16	3352	c.3312G>A	c.(3310-3312)ctG>ctA	p.L1104L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1104					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATCAATCCCTGGACCAGACCC	0.473000													13	86					0	0	0.000151284	0	0
PRKACG	5568	broad.mit.edu	37	9	71628457	71628457	+	Silent	SNP	C	C	T	rs3750373		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:71628457C>T	ENST00000377276.2	-	1	582	c.552G>A	c.(550-552)acG>acA	p.T184T		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	184	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACCGAAGTCCGTCACCTGCA	0.617000													5	14					0	0	3.59834e-05	0	0
PARP12	64761	broad.mit.edu	37	7	139728475	139728475	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:139728475G>A	ENST00000263549.3	-	9	2308	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	479						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCGGGCCTGGAAACTTGGTA	0.488000													3	5					0	0	0.00024832	0	0
TEP1	7011	broad.mit.edu	37	14	20854292	20854292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:20854292G>A	ENST00000262715.5	-	20	2964	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	TEP1_ENST00000556935.1_Missense_Mutation_p.S867F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	975					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)		TCCATAACGGGAGCCCAGAAT	0.557000													27	51					0	0	0.000184323	0	0
SDC1	6382	broad.mit.edu	37	2	20403831	20403831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:20403831G>A	ENST00000381150.1	-	4	760	c.370C>T	c.(370-372)Cga>Tga	p.R124*	SDC1_ENST00000254351.4_Nonsense_Mutation_p.R124*|SDC1_ENST00000403076.1_Nonsense_Mutation_p.R124*|SDC1_ENST00000482879.1_5'UTR	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	124					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.R124*(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TCCCTGGGTCGGGGGGTGGCC	0.701000													27	55					0	0	0.000409698	0	0
NCOR2	9612	broad.mit.edu	37	12	124816908	124816908	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:124816908G>C	ENST00000356219.3	-	44	7037	c.6882C>G	c.(6880-6882)atC>atG	p.I2294M	NCOR2_ENST00000397355.1_Missense_Mutation_p.I2278M|NCOR2_ENST00000404621.1_Missense_Mutation_p.I2277M|NCOR2_ENST00000429285.2_Missense_Mutation_p.I2277M|NCOR2_ENST00000404121.2_Missense_Mutation_p.I1848M|NCOR2_ENST00000405201.1_Missense_Mutation_p.I2287M	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2298					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTTCTTGTTGATCTCTTGCT	0.602000											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	91					0	0	0.000442599	0	0
PEX26	55670	broad.mit.edu	37	22	18567993	18567993	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:18567993C>T	ENST00000329627.6	+	5	989	c.783C>T	c.(781-783)atC>atT	p.I261I	PEX26_ENST00000399744.3_Silent_p.I261I|PEX26_ENST00000428061.2_Intron	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	261					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGCCTTGATCCTCTGTCTCC	0.557000													30	89					0	0	0.000491102	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42302357	42302357	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:42302357C>T	ENST00000413860.2	-	1	88	c.89G>A	c.(88-90)gGt>gAt	p.G30D	PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CTGGACCACACCCTTCAGGTC	0.597000													10	46					0	0	0.000442599	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560940	44560940	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:44560940C>T	ENST00000332567.4	-	1	1048	c.696G>A	c.(694-696)caG>caA	p.Q232Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	232					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCGTTTTTCCTGGCGAGACG	0.612000													4	32					0	0	0.00024832	0	0
AHDC1	27245	broad.mit.edu	37	1	27878356	27878356	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:27878356G>T	ENST00000374011.2	-	6	1239	c.271C>A	c.(271-273)Cct>Act	p.P91T	AHDC1_ENST00000247087.5_Missense_Mutation_p.P91T|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	91	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTGAGACAGGACGGGCTGCC	0.736000													7	42					2.0095e-06	2.14624e-05	8.12818e-05	1	0
TEKT3	64518	broad.mit.edu	37	17	15234598	15234598	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:15234598G>A	ENST00000395930.1	-	3	491	c.305C>T	c.(304-306)tCc>tTc	p.S102F	TEKT3_ENST00000338696.2_Missense_Mutation_p.S102F	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	102					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGTTAAATTGGACCTGTACCA	0.433000													26	93					0	0	0.000184323	0	0
COL3A1	1281	broad.mit.edu	37	2	189868984	189868984	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:189868984G>A	ENST00000304636.3	+	40	2995	c.2823_splice	c.e40-1	p.G942_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	942	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGTATTAGGGAGCTCCAGGC	0.458000													7	20					0	0	0.000274275	0	0
VPS13A	23230	broad.mit.edu	37	9	79974297	79974297	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:79974297A>C	ENST00000360280.3	+	58	8344	c.8084A>C	c.(8083-8085)cAt>cCt	p.H2695P	VPS13A_ENST00000376634.4_Missense_Mutation_p.H2695P|VPS13A_ENST00000376636.3_Missense_Mutation_p.H2656P|VPS13A_ENST00000357409.5_Missense_Mutation_p.H2695P	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2695					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTGCAGGACATTCCCAGATA	0.299000													11	38					0	0	0.000219431	0	0
LEPREL4	10609	broad.mit.edu	37	17	39964117	39964117	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:39964117G>A	ENST00000355468.3	-	6	1522	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	LEPREL4_ENST00000393928.1_Silent_p.P352P			Q92791	SC65_HUMAN	leprecan-like 4	352	Asp/Glu-rich (acidic).				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCACCTCCCGGGGCTGGAAGT	0.597000													6	25					0	0	3.59834e-05	0	0
RYR1	6261	broad.mit.edu	37	19	39001302	39001302	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:39001302C>T	ENST00000355481.4	+	60	9134	c.9003C>T	c.(9001-9003)atC>atT	p.I3001I	RYR1_ENST00000359596.3_Silent_p.I3001I|RYR1_ENST00000360985.3_Silent_p.I3001I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3001					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCTCCAGATCCTGCTCCCTT	0.577000													52	192					0	0	0.000781405	0	0
MAP1A	4130	broad.mit.edu	37	15	43822318	43822318	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:43822318C>G	ENST00000382031.1	+	7	9053	c.9022C>G	c.(9022-9024)Caa>Gaa	p.Q3008E	MAP1A_ENST00000399453.1_Missense_Mutation_p.Q2772E|MAP1A_ENST00000300231.5_Missense_Mutation_p.Q2770E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2770						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTGGTACCAACAAACTCATGA	0.498000													9	76					0	0	0.000274275	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134454895	134454895	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:134454895C>G	ENST00000372195.1	-	24	3517	c.3274G>C	c.(3274-3276)Gag>Cag	p.E1092Q	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E1075Q|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E1093Q			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1075					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TAGGTCTTCTCTTCCCGGTCT	0.557000													20	163					0	0	0.000229342	0	0
USP33	23032	broad.mit.edu	37	1	78207390	78207390	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:78207390G>A	ENST00000370793.1	-	3	432	c.86C>T	c.(85-87)cCt>cTt	p.P29L	USP33_ENST00000370794.3_5'UTR|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.P29L|USP33_ENST00000370792.3_Missense_Mutation_p.P29L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	29					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATTTTGTTAGGAATTTTTTC	0.318000													7	39					0	0	0.000157383	0	0
BRE	9577	broad.mit.edu	37	2	28210913	28210913	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:28210913G>T	ENST00000344773.2	+	4	397	c.259G>T	c.(259-261)Gga>Tga	p.G87*	BRE_ENST00000379624.1_Nonsense_Mutation_p.G87*|BRE_ENST00000379632.2_Nonsense_Mutation_p.G87*|BRE_ENST00000361704.2_Nonsense_Mutation_p.G87*|BRE_ENST00000342045.2_Nonsense_Mutation_p.G87*|BRE_ENST00000603461.1_3'UTR	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	87	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTTTATCTTTGGAGAAGATGC	0.403000													8	308					0.000219431	0.00231963	0.000219431	1	0
TLE6	79816	broad.mit.edu	37	19	2994037	2994037	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:2994037G>A	ENST00000246112.4	+	16	1759	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	TLE6_ENST00000452088.1_Missense_Mutation_p.G397R	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	397					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GGCAAGCGTTGGAATGGACGA	0.592000													6	7					0	0	0.000442599	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844902	93844902	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:93844902G>A	ENST00000315765.9	+	20	3330	c.3322G>A	c.(3322-3324)Ggt>Agt	p.G1108S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1108					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAAGAATCTGGGTCCAACAGG	0.473000													9	28					0	0	0.000673444	0	0
CNST	163882	broad.mit.edu	37	1	246810539	246810539	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:246810539A>G	ENST00000366513.4	+	9	1305	c.1036A>G	c.(1036-1038)Aca>Gca	p.T346A	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.T346A	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	346					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGACGTGCAAACAGATTCCCC	0.547000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	60					0	0	0.000781405	0	0
MGAT2	4247	broad.mit.edu	37	14	50089148	50089148	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:50089148C>T	ENST00000305386.2	+	1	1660	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	388					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AACCTGTAGACCATCCACTCA	0.388000													12	65					0	0	0.000978159	0	0
SMAP2	64744	broad.mit.edu	37	1	40881029	40881029	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:40881029C>T	ENST00000539317.1	+	7	610	c.417C>T	c.(415-417)tcC>tcT	p.S139S	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	219					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CTGTTCCATCCCCTTCTTCTT	0.448000													48	149					0	0	0.000781405	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389870	77389870	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:77389870G>A	ENST00000282849.5	-	9	1845	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	476	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCGGCTGCAGGAAGACCATGA	0.483000													10	66					0	0	0.000442599	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931674	11931674	+	Silent	SNP	G	G	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:11931674G>T	ENST00000571133.1	-	9	1515	c.1443C>A	c.(1441-1443)ccC>ccA	p.P481P	RSL1D1_ENST00000542106.1_Silent_p.P261P	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	481					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TGGGTTTTTTGGGCCATTTTT	0.453000													8	159					0.000157383	0.00166561	0.000157383	1	0
PTCHD2	57540	broad.mit.edu	37	1	11579925	11579925	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:11579925T>C	ENST00000294484.6	+	9	2326	c.2188T>C	c.(2188-2190)Tgg>Cgg	p.W730R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.W730R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	730					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAAGAGCCGCTGGGTGATTGT	0.657000													5	41					0	0	8.12818e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092753	147092753	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:147092753C>A	ENST00000361727.3	+	10	2067	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	517	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCCTTCATTCCAAGGATGCA	0.423000										HNSCC(39;0.1)			17	64					2.94398e-08	3.15519e-07	0.000958276	1	0
GPRASP1	9737	broad.mit.edu	37	X	101910184	101910184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:101910184G>A	ENST00000537097.1	+	6	2156	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E	GPRASP1_ENST00000444152.1_Missense_Mutation_p.G448E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G448E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G448E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	448						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAGTATGGGGACTGGGGCT	0.502000													30	111					0	0	0.000279167	0	0
CST1	1469	broad.mit.edu	37	20	23731457	23731457	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:23731457G>A	ENST00000304749.2	-	1	117	c.47C>T	c.(46-48)gCt>gTt	p.A16V	CST1_ENST00000398402.1_Missense_Mutation_p.A16V	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	16						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGGGCCACAGCTAGGGTGGC	0.597000													5	14					0	0	0.000602214	0	0
ACMSD	130013	broad.mit.edu	37	2	135625155	135625155	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:135625155G>A	ENST00000356140.5	+	6	629	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000428857.1_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.E107K|ACMSD_ENST00000283054.4_Missense_Mutation_p.E107K|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	165					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GAAGGCAGCCGAAAGGCTGAA	0.493000													31	68					0	0	0.000409698	0	0
DSC3	1825	broad.mit.edu	37	18	28598176	28598176	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:28598176C>T	ENST00000434452.1	-	9	1278	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	DSC3_ENST00000360428.4_Missense_Mutation_p.R375Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	375	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATAGGTATTCGTAAGATTTC	0.289000													12	52					0	0	0.000151284	0	0
COL5A1	1289	broad.mit.edu	37	9	137715262	137715262	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:137715262G>A	ENST00000371817.3	+	61	5059	c.4644_splice	c.e61-1	p.G1549_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1549	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCTCCCCAGGGTCCAACTGG	0.602000													20	71					0	0	0.000586117	0	0
FARS2	10667	broad.mit.edu	37	6	5613428	5613428	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:5613428C>T	ENST00000324331.6	+	6	1428	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	FARS2_ENST00000274680.4_Silent_p.I364I			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	364	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CGGCTGTGATCAATGATATTT	0.353000													14	90					0	0	0.000422831	0	0
DNAH9	1770	broad.mit.edu	37	17	11687793	11687793	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:11687793C>T	ENST00000262442.3	+	41	8066	c.7998C>T	c.(7996-7998)ttC>ttT	p.F2666F	DNAH9_ENST00000454412.2_Silent_p.F2666F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2666	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTACCACCTTCCTACCCACAG	0.522000													32	90					0	0	0.00058488	0	0
GOT1L1	137362	broad.mit.edu	37	8	37795255	37795255	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:37795255G>A	ENST00000307599.4	-	3	409	c.310C>T	c.(310-312)Cac>Tac	p.H104Y		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	104					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCAACAGTGTGTACACCCCCT	0.517000													9	8					0	0	0.000442599	0	0
CGNL1	84952	broad.mit.edu	37	15	57731026	57731026	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:57731026C>T	ENST00000281282.5	+	2	907	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	277	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATGTTCTTCCCTTCCGGCG	0.612000													8	33					0	0	0.000274275	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272697	186272697	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:186272697A>G	ENST00000424280.1	-	5	1515	c.1036T>C	c.(1036-1038)Tct>Cct	p.S346P	TBCCD1_ENST00000338733.5_Missense_Mutation_p.S346P|TBCCD1_ENST00000446782.1_Missense_Mutation_p.S250P	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	346	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CGTAAGGGAGAGAGCAGATAT	0.408000													19	55					0	0	0.000586117	0	0
ASTN2	23245	broad.mit.edu	37	9	119976717	119976717	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:119976717T>A	ENST00000313400.4	-	3	1035	c.935A>T	c.(934-936)gAc>gTc	p.D312V	ASTN2_ENST00000373996.3_Missense_Mutation_p.D312V|ASTN2_ENST00000361209.2_Missense_Mutation_p.D312V|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	312						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCAAACTCGTCCTCGCGGGA	0.582000													6	49					0	0	8.12818e-05	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397198	38397198	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:38397198T>C	ENST00000377698.3	+	2	1606	c.1453T>C	c.(1453-1455)Ttt>Ctt	p.F485L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	485					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ATTTGGAGGGTTTAAGGAATC	0.547000													15	33					0	0	0.000308642	0	0
OGG1	4968	broad.mit.edu	37	3	9798520	9798520	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:9798520C>T	ENST00000339511.5	+	6	1274	c.968C>T	c.(967-969)cCt>cTt	p.P323L	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302003.7_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000344629.7_Intron	NM_016819.3	NP_058212.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CCTAGGTGTCCTCCCTAGGTT	0.572000								Base excision repair (BER), DNA glycosylases					12	34					0	0	0.000978159	0	0
TRRAP	8295	broad.mit.edu	37	7	98592250	98592250	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:98592250C>T	ENST00000359863.4	+	66	10255	c.10046C>T	c.(10045-10047)tCc>tTc	p.S3349F	TRRAP_ENST00000446306.3_Missense_Mutation_p.S3338F|TRRAP_ENST00000355540.3_Missense_Mutation_p.S3320F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3349					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATGTTACTCCGTGGCGTTT	0.537000													41	138					0	0	0.000589545	0	0
ARID2	196528	broad.mit.edu	37	12	46230571	46230571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:46230571C>T	ENST00000334344.6	+	8	992	c.820C>T	c.(820-822)Cga>Tga	p.R274*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.R125*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	274					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)		TCATCCACCTCGAAAGCTGGG	0.363000			"""N, S, F"""		hepatocellular carcinoma								13	61					0	0	0.000151284	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268074	25268074	+	Silent	SNP	T	T	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:25268074T>C	ENST00000328086.7	-	1	1178	c.375A>G	c.(373-375)aaA>aaG	p.K125K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	125	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCCAGTCTCTTTCTCCAAAT	0.473000													24	69					0	0	0.00106085	0	0
PDZD2	23037	broad.mit.edu	37	5	32074135	32074135	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:32074135G>C	ENST00000438447.1	+	18	3311	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.E975Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	975					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGATGAGGAAGAGTTTGACAG	0.602000													4	45					0	0	0.00024832	0	0
SLC39A14	23516	broad.mit.edu	37	8	22267571	22267571	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:22267571C>T	ENST00000359741.5	+	4	745	c.570C>T	c.(568-570)ttC>ttT	p.F190F	SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Intron	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	190						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TCACTTACTTCATCGCCCTGT	0.547000													51	48					0	0	0.000781405	0	0
EFHB	151651	broad.mit.edu	37	3	19956845	19956845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:19956845C>T	ENST00000295824.9	-	5	1399	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	EFHB_ENST00000344838.4_Missense_Mutation_p.G283E|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	413					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTTCATTTCCTTCTTTAAA	0.368000													19	64					0	0	0.000375601	0	0
AKAP3	10566	broad.mit.edu	37	12	4736228	4736228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4736228C>T	ENST00000545990.2	-	5	2364	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	AKAP3_ENST00000228850.1_Missense_Mutation_p.E614K	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	614					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ACCTTGGGTTCAGGGCTCTGG	0.478000													9	55					0	0	0.000673444	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147811	100147811	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:100147811G>A	ENST00000231461.5	-	5	1130	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	274					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTTTTGATAGGAACTTTGTTG	0.378000													20	39					0	0	0.00047179	0	0
GPT2	84706	broad.mit.edu	37	16	46943703	46943703	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:46943703C>T	ENST00000440783.2	+	6	1049	c.384C>T	c.(382-384)gcC>gcT	p.A128A	GPT2_ENST00000340124.4_Silent_p.A228A	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	228					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCTCGACGCCATCCAGGTGA	0.572000													22	55					0	0	0.000375601	0	0
ADPRH	141	broad.mit.edu	37	3	119306413	119306413	+	Silent	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:119306413G>A	ENST00000478399.1	+	4	2167	c.762G>A	c.(760-762)agG>agA	p.R254R	ADPRH_ENST00000357003.3_Silent_p.R254R|ADPRH_ENST00000465513.1_Silent_p.R254R|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Silent_p.R254R			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	254					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TGAAGGAGAGGGATCAGTTCT	0.517000													15	40					0	0	0.000219431	0	0
RBAK	57786	broad.mit.edu	37	7	5105071	5105071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:5105071C>T	ENST00000396912.1	+	5	2503	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Nonsense_Mutation_p.Q662*|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	662	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGTCTTTTCTCAGAAGTCATA	0.418000													18	97					0	0	0.000132079	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335888	20335888	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:20335888G>A	ENST00000377252.3	+	3	1256	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	139						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						AGACCAAATGGAAAAAGATAA	0.383000													5	69					0	0	0.000602214	0	0
NAV2	89797	broad.mit.edu	37	11	20057619	20057619	+	Silent	SNP	C	C	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:20057619C>T	ENST00000396085.1	+	12	3244	c.2883C>T	c.(2881-2883)tcC>tcT	p.S961S	NAV2_ENST00000349880.4_Silent_p.S961S|NAV2_ENST00000396087.3_Silent_p.S984S|NAV2_ENST00000311043.8_Silent_p.S47S|NAV2_ENST00000540292.1_Silent_p.S915S|NAV2_ENST00000533917.1_Silent_p.S47S|NAV2_ENST00000360655.4_Silent_p.S897S|NAV2_ENST00000527559.2_Silent_p.S913S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	984						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCTGCCTCCTCTCGAAAAA	0.582000													14	40					0	0	0.000151284	0	0
DHX30	22907	broad.mit.edu	37	3	47891505	47891506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:47891505_47891506insC	ENST00000446256.2	+	23	3935_3936	c.3363_3364insC	c.(3361-3366)ctccccfs	p.LP1121fs	DHX30_ENST00000348968.4_Frame_Shift_Ins_p.LP1132fs|DHX30_ENST00000445061.1_Frame_Shift_Ins_p.LP1160fs|DHX30_ENST00000457607.1_Frame_Shift_Ins_p.LP1188fs	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1160						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGCTGCACTTCCCCCCAGCGT	0.683											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10	---	---	---	---					
THEMIS	387357	broad.mit.edu	37	6	128150677	128150680	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:128150677_128150680delTCTT	ENST00000368250.1	-	4	911_914	c.413_416delAAGA	c.(412-417)acfs	p.KD138fs	THEMIS_ENST00000537166.1_Frame_Shift_Del_p.KD182fs|THEMIS_ENST00000368248.2_Frame_Shift_Del_p.KD217fs|THEMIS_ENST00000543064.1_Frame_Shift_Del_p.KD217fs			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	217	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.D218N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACCATAAAAGTCTTTAGGAAATGG	0.358													19	59	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150831524	150831524	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:150831524delT	ENST00000397238.2	+	11	1364	c.1364delT	c.(1363-1365)cgfs	p.L456fs	AGAP3_ENST00000463381.1_Frame_Shift_Del_p.L228fs	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	420	PH.				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						GAGATTGACCTGCTGCGGACA	0.637													15	53	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													5	3	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													6	5	---	---	---	---					
SNRPD1	6632	broad.mit.edu	37	18	19209027	19209038	+	In_Frame_Del	DEL	AGGAAGAGGCAG	AGGAAGAGGCAG	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:19209027_19209038delAGGAAGAGGCAG	ENST00000300413.4	+	4	451_462	c.288_299delAGGAAGAGGCAG	c.(286-300)gca>gc	p.AGRGR96del	SNRPD1_ENST00000579618.1_3'UTR|SNRPD1_ENST00000582475.1_In_Frame_Del_p.AGRGR52del	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa	96	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding			lung(2)|prostate(1)	3						CTTCAGTTGCaggaagaggcagaggaagagga	0.453													11	105	---	---	---	---					
MFSD12	126321	broad.mit.edu	37	19	3542865	3542866	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:3542865_3542866insT	ENST00000398558.4	-	10	1529_1530	c.1530_1531insA	c.(1528-1533)gaccccfs	p.D510fs	C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron	NM_021731.2	NP_068377.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCCAGGGGGGCTTCCCAGAGGA	0.634													15	50	---	---	---	---					
TM6SF2	53345	broad.mit.edu	37	19	19380541	19380549	+	In_Frame_Del	DEL	AACCCAGCC	AACCCAGCC	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:19380541_19380549delAACCCAGCC	ENST00000389363.4	-	5	503_511	c.431_439delGGCTGGGTT	c.(430-441)tcc>t	p.WLGS144del	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	144						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			ATGGCGAAGGAACCCAGCCAGTAGAGTCC	0.550													8	181	---	---	---	---					
SMC1A	8243	broad.mit.edu	37	X	53423149	53423152	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:53423149_53423152delCTTC	ENST00000322213.4	-	18	2984_2987	c.2857_2860delGAAG	c.(2857-2862)agfs	p.EE953fs		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	953					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATACTCACCTCTTCCTGACTAATA	0.495													19	132	---	---	---	---