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
BCORL1	63035	broad.mit.edu	37	X	129147471	129147471	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:129147471T>C	ENST00000540052.1	+	3	767	c.723T>C	c.(721-723)gtT>gtC	p.V241V	BCORL1_ENST00000218147.7_Silent_p.V241V|BCORL1_ENST00000359304.2_Silent_p.V241V|BCORL1_ENST00000303743.5_Silent_p.V241V	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	241	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTCCAAGTTGCCACTTCGG	0.637000													33	75					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679224	100679224	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:100679224T>C	ENST00000306151.4	+	3	4591	c.4527T>C	c.(4525-4527)ccT>ccC	p.P1509P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1509	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)					TCTCAACGCCTAGTGAAGGAA	0.478000													134	149					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513512	99513512	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:99513512C>A	ENST00000261037.3	+	5	1147	c.767C>A	c.(766-768)cCt>cAt	p.P256H	COL8A1_ENST00000273342.4_Missense_Mutation_p.P256H	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	256	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GTAAAGGGGCCTCCAGGGATG	0.652000													15	52					1.15088e-07	1.24559e-07	1	1	0
SLC16A14	151473	broad.mit.edu	37	2	230910726	230910726	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:230910726G>A	ENST00000295190.4	-	4	1574	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	372						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGTCGGCTATGACGCCCAGGA	0.428000													19	26					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227198	42227198	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:42227198C>T	ENST00000541110.1	-	9	2776	c.2208G>A	c.(2206-2208)ccG>ccA	p.P736P	TRERF1_ENST00000340840.2_Silent_p.P633P|TRERF1_ENST00000354325.2_Silent_p.P633P|TRERF1_ENST00000372922.4_Silent_p.P716P|TRERF1_ENST00000372917.4_Silent_p.P633P			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	716	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTGGCGCACCGGGCTCAGCA	0.731000													3	13					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47950538	47950538	+	Silent	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:47950538C>G	ENST00000426837.2	-	10	5511	c.5424G>C	c.(5422-5424)ctG>ctC	p.L1808L	MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Silent_p.L391L|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Silent_p.L398L			P27816	MAP4_HUMAN	microtubule-associated protein 4	663					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CAGCGGACTTCAGTTGCTTAT	0.483000													47	199					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563498	140563498	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:140563498C>A	ENST00000361016.2	+	1	2519	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		455					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.562000													34	65					2.40579e-17	2.79175e-17	1	1	0
CTLA4	1493	broad.mit.edu	37	2	204735345	204735345	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:204735345G>A	ENST00000302823.3	+	2	303	c.146G>A	c.(145-147)aGc>aAc	p.S49N	CTLA4_ENST00000472206.1_Missense_Mutation_p.S49N|CTLA4_ENST00000427473.2_Missense_Mutation_p.S12N|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000295854.6_Missense_Mutation_p.S49N	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	49	Homodimerization.|Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	GTACTGGCCAGCAGCCGAGGC	0.582000													14	22					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699334	43699334	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:43699334C>G	ENST00000405312.3	-	4	1038	c.801G>C	c.(799-801)aaG>aaC	p.K267N	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.K174N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	267	Ig-like C2-type 2.		K -> E (in dbSNP:rs1058718).		defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGTGTAGTTCTTACTCTTAG	0.458000													57	248					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216262457	216262457	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:216262457C>A	ENST00000354785.4	-	22	3832	c.3463G>T	c.(3463-3465)Gtc>Ttc	p.V1155F	FN1_ENST00000336916.4_Missense_Mutation_p.V1155F|FN1_ENST00000432072.2_Missense_Mutation_p.V1155F|FN1_ENST00000359671.1_Missense_Mutation_p.V1155F|FN1_ENST00000357009.2_Missense_Mutation_p.V1155F|FN1_ENST00000345488.5_Missense_Mutation_p.V1155F|FN1_ENST00000357867.4_Missense_Mutation_p.V1155F|FN1_ENST00000446046.1_Missense_Mutation_p.V1155F|FN1_ENST00000443816.1_Missense_Mutation_p.V1155F|FN1_ENST00000346544.3_Missense_Mutation_p.V1155F|FN1_ENST00000323926.6_Missense_Mutation_p.V1155F|FN1_ENST00000356005.4_Missense_Mutation_p.V1155F|FN1_ENST00000421182.1_Missense_Mutation_p.V1155F			P02751	FINC_HUMAN	fibronectin 1	1155	Fibronectin type-III 6.				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)	TCTCTCAGGACTTGGATGGTG	0.448000													58	11					5.19286e-32	6.27772e-32	1	1	0
ASAP1	50807	broad.mit.edu	37	8	131072893	131072893	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:131072893C>G	ENST00000357668.1	-	27	3151	c.3124G>C	c.(3124-3126)Gaa>Caa	p.E1042Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.E1042Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1042					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGGAGTCTTCAGATGCTTGC	0.537000													51	144					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37864603	37864603	+	Silent	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:37864603C>G	ENST00000406381.2	+	5	675	c.165C>G	c.(163-165)ctC>ctG	p.L55L	ERBB2_ENST00000584450.1_Silent_p.L85L|ERBB2_ENST00000540042.1_Silent_p.L55L|ERBB2_ENST00000269571.5_Silent_p.L85L|ERBB2_ENST00000540147.1_Silent_p.L55L|ERBB2_ENST00000541774.1_Silent_p.L70L|ERBB2_ENST00000578199.1_Silent_p.L55L|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.L55L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	85					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTACGTGCTCATCGCTCACA	0.622000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			15	64					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215489	46215489	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:46215489G>T	ENST00000317683.3	-	2	1398	c.1265C>A	c.(1264-1266)cCa>cAa	p.P422Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	422							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCGGGGGTGGCTCCGGGGG	0.731000													5	11					1.23904e-05	1.318e-05	1	1	0
MOCOS	55034	broad.mit.edu	37	18	33779834	33779834	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr18:33779834T>C	ENST00000261326.5	+	4	509	c.488T>C	c.(487-489)aTg>aCg	p.M163T		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	163					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AACGTGACCATGGCTATAAAT	0.592000													9	9					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192459	132192459	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:132192459C>T	ENST00000359827.3	-	2	1956	c.994G>A	c.(994-996)Gat>Aat	p.D332N	PLXNA4_ENST00000423507.2_Missense_Mutation_p.D332N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.D332N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.D332N			Q9HCM2	PLXA4_HUMAN	plexin A4	332	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCAGGTCATCATCTGGATGG	0.572000													10	40					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146608	42146608	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:42146608C>T	ENST00000394237.1	+	5	1396	c.420C>T	c.(418-420)ttC>ttT	p.F140F	GUCA1A_ENST00000053469.4_Silent_p.F140F|GUCA1A_ENST00000372958.1_Silent_p.F140F|GUCA1A_ENST00000541991.1_Silent_p.F140F			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	140	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATACAGTGTTCTCCAAGATTG	0.612000													34	69					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33217181	33217181	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:33217181T>C	ENST00000242067.6	+	5	941	c.420T>C	c.(418-420)taT>taC	p.Y140Y	BBS9_ENST00000425508.2_Silent_p.Y95Y|BBS9_ENST00000354265.4_Silent_p.Y140Y|BBS9_ENST00000396127.2_Silent_p.Y140Y|BBS9_ENST00000355070.2_Silent_p.Y140Y|BBS9_ENST00000350941.3_Silent_p.Y140Y	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	140					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATATGACCTATGGATCATTTG	0.343000									Bardet-Biedl syndrome				12	38					0	0	1	0	0
PSMD8	5714	broad.mit.edu	37	19	38871637	38871637	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:38871637C>G	ENST00000592035.1	+	5	942	c.300C>G	c.(298-300)atC>atG	p.I100M	PSMD8_ENST00000602911.1_Missense_Mutation_p.I204M|PSMD8_ENST00000215071.4_Missense_Mutation_p.I267M			P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	267					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCGACACTATCAGGTGCGTAG	0.552000													5	13					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46633784	46633784	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:46633784C>A	ENST00000303383.3	-	9	1570	c.1304G>T	c.(1303-1305)gGc>gTc	p.G435V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	435										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AAATTTTATGCCTGAGATTTT	0.388000													11	14					6.40141e-05	6.74323e-05	1	1	0
CASK	8573	broad.mit.edu	37	X	41524686	41524686	+	Silent	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:41524686A>G	ENST00000318588.9	-	7	597	c.552T>C	c.(550-552)caT>caC	p.H184H	CASK_ENST00000378154.1_Silent_p.H184H|CASK_ENST00000442742.2_Silent_p.H184H|CASK_ENST00000361962.4_Silent_p.H184H|CASK_ENST00000378166.4_Silent_p.H184H|CASK_ENST00000378163.1_Silent_p.H184H|CASK_ENST00000378158.1_Silent_p.H184H|CASK_ENST00000421587.2_Silent_p.H184H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	184	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GTGCCATAAAATGAGGTGTTC	0.383000													9	25					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102750757	102750757	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:102750757G>C	ENST00000370228.1	+	4	1909	c.1724G>C	c.(1723-1725)gGc>gCc	p.G575A	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Missense_Mutation_p.G575A	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	575	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCCATTTTTGGCTCAGCCAAA	0.493000													7	48					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637492	23637492	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:23637492C>A	ENST00000478691.1	-	10	1334	c.1063G>T	c.(1063-1065)Ggg>Tgg	p.G355W	HNRNPR_ENST00000427764.2_Missense_Mutation_p.G415W|HNRNPR_ENST00000606561.1_Missense_Mutation_p.G314W|HNRNPR_ENST00000426846.2_Missense_Mutation_p.G293W|HNRNPR_ENST00000374612.1_Missense_Mutation_p.G453W|HNRNPR_ENST00000374616.3_Missense_Mutation_p.G456W|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G453W|HNRNPR_ENST00000476660.1_5'UTR	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	453	RRM 3.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCTCTCCCCCCACCACGACCC	0.458000													6	88					0.248553	0.249127	1	1	0
USP38	84640	broad.mit.edu	37	4	144135447	144135447	+	Missense_Mutation	SNP	A	A	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:144135447A>C	ENST00000307017.4	+	9	2824	c.2318A>C	c.(2317-2319)aAg>aCg	p.K773T	USP38_ENST00000510377.1_Missense_Mutation_p.K773T	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	773					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TATGATCAGAAGTATCATGTG	0.368000													7	117					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128694575	128694575	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:128694575T>C	ENST00000281154.4	+	6	962	c.794T>C	c.(793-795)tTa>tCa	p.L265S		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	265					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AAAGGAACCTTAGACTGCTTT	0.398000													19	135					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7248956	7248956	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:7248956A>G	ENST00000379938.2	+	13	5521	c.4984A>G	c.(4984-4986)Aat>Gat	p.N1662D	RREB1_ENST00000334984.6_Missense_Mutation_p.N1396D|RREB1_ENST00000379933.3_Missense_Mutation_p.N1607D|RREB1_ENST00000349384.6_Missense_Mutation_p.N1607D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1607					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCTGGCTCCCAATGCCAGCAA	0.637000													7	22					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159777975	159777975	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:159777975G>A	ENST00000321935.6	+	4	167	c.81G>A	c.(79-81)ctG>ctA	p.L27L	FCRL6_ENST00000368106.3_Silent_p.L20L|FCRL6_ENST00000392235.3_Silent_p.L20L|FCRL6_ENST00000339348.5_Silent_p.L20L	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	20	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CAGTCTGGCTGTACCTCCAAG	0.572000													16	117					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771774	90771774	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:90771774A>G	ENST00000411539.2	+	14	2673	c.2413A>G	c.(2413-2415)Aag>Gag	p.K805E	SEMA4B_ENST00000332496.6_Missense_Mutation_p.K805E|SEMA4B_ENST00000379122.3_Intron	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGAGTCAGAGAAGAGGCCACT	0.652000													9	5					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432900	10432900	+	Missense_Mutation	SNP	A	A	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:10432900A>C	ENST00000245503.5	-	24	3482	c.3098T>G	c.(3097-3099)cTt>cGt	p.L1033R	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1033R|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1033					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						TTGTTGTTCAAGTTTGATTTT	0.423000													44	80					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36930758	36930758	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:36930758A>T	ENST00000373674.3	+	5	968	c.640A>T	c.(640-642)Act>Tct	p.T214S		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	214						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTACCTGGTAACTGAGGCCCC	0.537000													20	15					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789177	80789177	+	Missense_Mutation	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:80789177T>G	ENST00000269394.3	-	2	1987	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	385						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAGGAGTCTTTAGCCTCAGG	0.607000													132	110					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122318437	122318437	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:122318437T>C	ENST00000264357.5	+	1	342	c.50T>C	c.(49-51)tTt>tCt	p.F17S	GRIA3_ENST00000371256.5_Missense_Mutation_p.F17S|GRIA3_ENST00000371251.1_Missense_Mutation_p.F17S|GRIA3_ENST00000371264.3_Missense_Mutation_p.F17S|GRIA3_ENST00000542149.1_Missense_Mutation_p.F17S|GRIA3_ENST00000371266.1_Missense_Mutation_p.F17S|GRIA3_ENST00000479118.1_3'UTR	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	17					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)	GCGGTCTTCTTTTTAGTCCTG	0.572000													29	64					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30821785	30821785	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:30821785C>A	ENST00000318217.5	-	22	3317	c.3013G>T	c.(3013-3015)Ggg>Tgg	p.G1005W	MYO1D_ENST00000394649.4_Missense_Mutation_p.G917W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	1005						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGTCAGTTCCCGGGCACGCTG	0.682000													4	12					0.00909568	0.00933221	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200974749	200974749	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:200974749A>T	ENST00000332129.2	-	4	837	c.521T>A	c.(520-522)aTc>aAc	p.I174N	KIF21B_ENST00000461742.2_Missense_Mutation_p.I174N|KIF21B_ENST00000422435.2_Missense_Mutation_p.I174N|KIF21B_ENST00000360529.5_Missense_Mutation_p.I174N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	174	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTGGATCTTGATGTTGGACCT	0.577000													10	37					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9570977	9570977	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:9570977T>C	ENST00000460593.1	+	4	1336	c.198T>C	c.(196-198)taT>taC	p.Y66Y	CPSF3_ENST00000238112.3_Silent_p.Y103Y			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	103					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAGCTATTTATAGATGGCTTC	0.363000													74	92					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55984846	55984846	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:55984846C>T	ENST00000263923.4	-	3	578	c.283G>A	c.(283-285)Gga>Aga	p.G95R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	95	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTCATTTCCGATCACTTTT	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			27	130					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30110113	30110113	+	Silent	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr13:30110113C>G	ENST00000380752.5	-	3	599	c.213G>C	c.(211-213)ctG>ctC	p.L71L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	71					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCGCAGCGATCAGGAAGGAGA	0.632000													6	37					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12533663	12533663	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:12533663G>A	ENST00000444864.1	+	3	605	c.218G>A	c.(217-219)aGa>aAa	p.R73K	TSEN2_ENST00000415684.1_Missense_Mutation_p.R73K|TSEN2_ENST00000402228.3_Missense_Mutation_p.R73K|TSEN2_ENST00000284995.6_Missense_Mutation_p.R73K|TSEN2_ENST00000454502.2_Missense_Mutation_p.R73K|TSEN2_ENST00000314571.7_Missense_Mutation_p.R73K|TSEN2_ENST00000383797.5_Missense_Mutation_p.R73K	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	73					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTCTTTCAAGAAGCCGTCCA	0.343000													17	59					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729669	162729669	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:162729669C>T	ENST00000367922.3	+	9	1193	c.755C>T	c.(754-756)cCc>cTc	p.P252L	DDR2_ENST00000367921.3_Missense_Mutation_p.P252L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CACGTGTGGCCCGGCTATGAC	0.527000													17	84					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70341532	70341532	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:70341532C>G	ENST00000333646.6	+	7	1166	c.967C>G	c.(967-969)Cag>Gag	p.Q323E	MED12_ENST00000374102.1_Missense_Mutation_p.Q323E|MED12_ENST00000374080.3_Missense_Mutation_p.Q323E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	323					androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TATATCTGCTCAGTCAACAAG	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						17	31					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195538607	195538607	+	Splice_Site	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:195538607C>T	ENST00000463781.3	-	1	541	c.82G>A	c.(82-84)Gga>Aga	p.G28R	MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000475231.1_Splice_Site_p.G28R|MUC4_ENST00000349607.4_Splice_Site_p.G28R|MUC4_ENST00000346145.4_Splice_Site_p.G28R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	28					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATCACTTACCTGGGACCACA	0.632000													7	37					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445166	85445166	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:85445166T>C	ENST00000316356.4	-	7	1770	c.1206A>G	c.(1204-1206)gtA>gtG	p.V402V	SYTL2_ENST00000389960.4_Silent_p.V401V|SYTL2_ENST00000528231.1_Silent_p.V401V|SYTL2_ENST00000524452.1_Silent_p.V401V|SYTL2_ENST00000527523.1_Silent_p.V353V			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	401					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CACTTTTTGATACATATGGGC	0.418000													20	77					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94214786	94214786	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:94214786C>T	ENST00000428696.2	-	11	1346	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	SGCE_ENST00000437425.2_3'UTR|SGCE_ENST00000445866.2_3'UTR|SGCE_ENST00000447873.1_3'UTR|SGCE_ENST00000265735.7_3'UTR	NM_001099400.1	NP_001092870.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	0					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTATAAATTCATTGCTTCAG	0.353000													36	120					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396571	154396571	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:154396571C>G	ENST00000435029.4	+	1	3312	c.3152C>G	c.(3151-3153)tCt>tGt	p.S1051C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1051	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGAGCATTCTGTGAATGAG	0.423000													15	19					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108881679	108881679	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr13:108881679A>G	ENST00000375898.3	+	2	414	c.113A>G	c.(112-114)cAt>cGt	p.H38R		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	38						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GTGACTTTTCATCTGTATGGA	0.368000													14	72					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163798	150163798	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:150163798G>T	ENST00000307271.3	+	2	586	c.12G>T	c.(10-12)caG>caT	p.Q4H		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	4						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTCAGAGCAGAGCTGCCAGA	0.507000													10	41					0.000673444	0.000700899	1	1	0
GCK	2645	broad.mit.edu	37	7	44186118	44186118	+	Silent	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:44186118G>T	ENST00000403799.3	-	8	1432	c.963C>A	c.(961-963)tcC>tcA	p.S321S	GCK_ENST00000345378.2_Silent_p.S322S|GCK_ENST00000395796.3_Silent_p.S320S|GCK_ENST00000437084.1_Silent_p.S304S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	321					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGCTGCTCGGAGGCCTCCC	0.647000													12	52					5.50884e-06	5.9033e-06	1	1	0
CFH	3075	broad.mit.edu	37	1	196682868	196682868	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:196682868C>T	ENST00000367429.4	+	10	1580	c.1340C>T	c.(1339-1341)aCa>aTa	p.T447I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	447	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTTTAGAAACATGTTCCAAA	0.254000													8	19					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434363	118434363	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:118434363T>C	ENST00000369209.3	-	12	2061	c.1957A>G	c.(1957-1959)Atc>Gtc	p.I653V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	653							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTGGCTTTGATCTCGGTGTCC	0.582000													22	32					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2795275	2795275	+	Missense_Mutation	SNP	A	A	C	rs145468285		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:2795275A>C	ENST00000381163.3	+	11	1553	c.1271A>C	c.(1270-1272)gAg>gCg	p.E424A	GYG2_ENST00000338623.5_Intron|GYG2_ENST00000542787.1_Intron|GYG2_ENST00000381161.1_Intron|GYG2_ENST00000398806.3_Missense_Mutation_p.E393A	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	424					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCTCATCCGAGGAAACCTTC	0.517000													4	29					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426416	71426416	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:71426416G>T	ENST00000373657.1	-	3	2434	c.1832C>A	c.(1831-1833)cCt>cAt	p.P611H	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P734H			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	734	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGGAAATACAGGTTCTCTTAG	0.403000													36	95					6.05902e-23	7.24412e-23	1	1	0
VSX1	30813	broad.mit.edu	37	20	25059443	25059443	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr20:25059443G>A	ENST00000376707.3	-	3	683	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCTTTGGAGCGGAGAAAAGGG	0.527000													35	147					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86813796	86813796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:86813796C>T	ENST00000414194.2	+	11	1898	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	DMTF1_ENST00000413276.2_Nonsense_Mutation_p.Q302*|DMTF1_ENST00000432937.2_Nonsense_Mutation_p.Q214*|DMTF1_ENST00000394703.5_Nonsense_Mutation_p.Q302*|DMTF1_ENST00000411766.2_3'UTR|DMTF1_ENST00000331242.7_Nonsense_Mutation_p.Q302*			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	302	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CATAGTCACACAGGGTGTGTC	0.473000													13	37					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120673523	120673523	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:120673523C>G	ENST00000527524.2	+	4	491	c.204C>G	c.(202-204)atC>atG	p.I68M	GRIK4_ENST00000438375.2_Missense_Mutation_p.I68M	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	68					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AAGTGGACATCTTTGAGCTTC	0.592000											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	38					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5781006	5781006	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:5781006C>G	ENST00000425013.2	-	4	695	c.471G>C	c.(469-471)gaG>gaC	p.E157D	RNF216_ENST00000389902.3_Missense_Mutation_p.E214D	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	157					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GAGCAGCTGACTCTCCTAGAT	0.463000													14	183					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505529	157505529	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:157505529G>A	ENST00000346085.5	+	13	3511	c.3510G>A	c.(3508-3510)ggG>ggA	p.G1170G	ARID1B_ENST00000275248.4_Silent_p.G1152G|ARID1B_ENST00000367148.1_Silent_p.G1210G|ARID1B_ENST00000350026.5_Silent_p.G1157G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1157					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAGCACCGGGGACACCAAAA	0.607000													11	31					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615304	7615304	+	Silent	SNP	C	C	T	rs138023728	byFrequency	TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:7615304C>T	ENST00000221249.6	+	18	2249	c.1818C>T	c.(1816-1818)cgC>cgT	p.R606R	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Silent_p.R606R|PNPLA6_ENST00000545201.2_Silent_p.R580R|PNPLA6_ENST00000414982.3_Silent_p.R654R|PNPLA6_ENST00000600737.1_Silent_p.R645R	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	645					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGCGGGACGCGCGCTGTACA	0.692000													10	16					0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39272286	39272286	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:39272286C>A	ENST00000453413.2	-	3	638	c.498G>T	c.(496-498)ctG>ctT	p.L166L	KCNK17_ENST00000373231.4_Silent_p.L166L	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	166						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AGGTGCCCCCCAGCCTGCTGG	0.602000													16	38					4.7546e-09	5.25063e-09	1	1	0
GFPT2	9945	broad.mit.edu	37	5	179762833	179762833	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:179762833C>T	ENST00000253778.8	-	4	504	c.335G>A	c.(334-336)gGc>gAc	p.G112D		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	112	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CATACCGTTGCCTTTGTCTGA	0.622000													12	11					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430949	36430949	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:36430949C>T	ENST00000588831.1	+	3	1676	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	LRFN3_ENST00000246529.3_Missense_Mutation_p.R208W			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	208					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAAGCTGGCCCGGCTGGACAT	0.706000													33	119					0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238484105	238484105	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:238484105C>A	ENST00000264601.3	-	5	1083	c.454G>T	c.(454-456)Gac>Tac	p.D152Y	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Missense_Mutation_p.D25Y|RAB17_ENST00000538644.1_Missense_Mutation_p.D25Y	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	152					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TTCTGGCTGTCGGCAAACTCC	0.507000													3	5					0.115264	0.116066	1	1	0
VPS16	64601	broad.mit.edu	37	20	2842491	2842491	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr20:2842491G>A	ENST00000380445.3	+	10	1012	c.940G>A	c.(940-942)Gat>Aat	p.D314N	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	314					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCCTGAGCTCGATGGGGTCCG	0.592000													3	12					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078670	78078670	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:78078670C>T	ENST00000302262.3	+	2	504	c.285C>T	c.(283-285)gaC>gaT	p.D95D	GAA_ENST00000390015.3_Silent_p.D95D	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	95	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCGCCCCTGACAAGGCCATCA	0.687000													4	17					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32703874	32703874	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:32703874G>C	ENST00000421745.2	+	36	7374	c.7240G>C	c.(7240-7242)Gat>Cat	p.D2414H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2414					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATGCTACAAGATATTTTAGC	0.388000													16	53					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77574706	77574706	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr13:77574706G>C	ENST00000377453.3	+	4	2118	c.826G>C	c.(826-828)Gat>Cat	p.D276H		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	227					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GACATGGTTTGATTCCTACGA	0.393000													17	35					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122622380	122622380	+	Silent	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:122622380T>A	ENST00000263461.6	+	5	906	c.660T>A	c.(658-660)ggT>ggA	p.G220G		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	220						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGCCACAGGTGCCAAGAAAG	0.418000													35	75					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119694179	119694179	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:119694179G>A	ENST00000371322.5	-	1	376	c.315C>T	c.(313-315)gaC>gaT	p.D105D	CUL4B_ENST00000336592.6_Silent_p.D110D|CUL4B_ENST00000404115.3_Silent_p.D123D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	123	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						ACTCCAGGGTGTCTTCAAAAC	0.547000													11	39					0	0	1	0	0
BHLHE23	128408	broad.mit.edu	37	20	61637593	61637593	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr20:61637593C>T	ENST00000370346.2	-	1	794	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	162					transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						CCACCAGGCGCCGCATCTCGT	0.687000													14	14					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043265	56043265	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:56043265C>G	ENST00000313033.2	+	1	237	c.151C>G	c.(151-153)Cta>Gta	p.L51V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTATTCACTCTAATAGGCAA	0.343000													26	78					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12613570	12613570	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:12613570C>G	ENST00000170447.7	+	4	477	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	MKRN2_ENST00000448482.1_Missense_Mutation_p.L112V|MKRN2_ENST00000411987.1_Missense_Mutation_p.L71V	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	114						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GTTTTCAGATCTCTCTGGCAT	0.517000													5	18					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476711	28476711	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:28476711G>T	ENST00000383768.2	+	4	631	c.443G>T	c.(442-444)aGa>aTa	p.R148I	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.R148I			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	148	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CCCCATTCAAGATCATGGATA	0.353000													7	50					2.7689e-08	3.02695e-08	1	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4448452	4448452	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:4448452C>T	ENST00000254718.4	-	17	2485	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E727K			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	727	Glu-rich.				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTGTTGTCCTCACCTTCCTCG	0.657000													6	9					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763755	44763755	+	Missense_Mutation	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:44763755T>G	ENST00000296091.4	+	4	1702	c.1446T>G	c.(1444-1446)caT>caG	p.H482Q	ZNF502_ENST00000436624.2_Missense_Mutation_p.H482Q|ZNF502_ENST00000449836.1_Missense_Mutation_p.H482Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTGAACATCATAGAACTCACA	0.413000													13	28					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1876769	1876769	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:1876769G>A	ENST00000518288.1	+	25	3109	c.2946G>A	c.(2944-2946)gtG>gtA	p.V982V	ARHGEF10_ENST00000262112.6_Silent_p.V954V|ARHGEF10_ENST00000398564.1_Silent_p.V983V|ARHGEF10_ENST00000349830.3_Silent_p.V958V|ARHGEF10_ENST00000520359.1_Silent_p.V920V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	983					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCCGGCCGTGAGAGCTTCTG	0.612000													10	57					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95850690	95850690	+	Splice_Site	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:95850690G>C	ENST00000523731.1	+	8	994		c.e8-1		INTS8_ENST00000447247.1_Splice_Site	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8						snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTACTTTACAGATAGGTTCAT	0.368000													37	121					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88633681	88633681	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:88633681A>T	ENST00000361671.5	+	21	2115	c.1982A>T	c.(1981-1983)aAg>aTg	p.K661M		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	661					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GCAGCTAGTAAGCACTTTCAA	0.423000													26	70					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37503044	37503044	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:37503044A>G	ENST00000377792.3	+	11	1579	c.1291A>G	c.(1291-1293)Atg>Gtg	p.M431V	POLR1E_ENST00000442009.2_Missense_Mutation_p.M299V|POLR1E_ENST00000377798.4_Missense_Mutation_p.M369V			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	431					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCTTAGGATGATGGAGATAGC	0.527000													33	92					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180165815	180165815	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:180165815G>C	ENST00000367602.3	+	12	1961	c.1887G>C	c.(1885-1887)caG>caC	p.Q629H	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	629					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGAGCTTCAGAGGAATGAGC	0.637000													31	89					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096183	167096183	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:167096183G>A	ENST00000361200.2	+	6	1981	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.K605K|DUSP27_ENST00000443333.1_Silent_p.K605K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	605					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGAGAACAAGGAGGAGGTGG	0.612000													6	41					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158369974	158369974	+	Nonsense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:158369974C>G	ENST00000486715.1	+	6	1136	c.779C>G	c.(778-780)tCa>tGa	p.S260*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.S279*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.S260*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	260					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTGCCAATTCAGATGAACAG	0.413000													19	68					0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943099	76943099	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:76943099G>C	ENST00000306602.1	-	4	346	c.281C>G	c.(280-282)tCt>tGt	p.S94C	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	94					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGATCTTTTAGACCTGTAAGA	0.448000													18	181					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162546750	162546750	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:162546750G>T	ENST00000271469.3	+	3	766	c.464G>T	c.(463-465)gGc>gTc	p.G155V	UAP1_ENST00000367924.1_Missense_Mutation_p.G155V|UAP1_ENST00000367926.4_Missense_Mutation_p.G155V|UAP1_ENST00000367925.1_Missense_Mutation_p.G155V			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	155					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AAATATTATGGCAACAAATGC	0.353000													18	101					3.32936e-07	3.59438e-07	1	1	0
CUX2	23316	broad.mit.edu	37	12	111785392	111785392	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:111785392G>A	ENST00000261726.6	+	22	3878	c.3724G>A	c.(3724-3726)Ggg>Agg	p.G1242R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1242						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						TGATCCAAGCGGGGGTCCTGG	0.657000													47	59					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090547	184090547	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:184090547C>G	ENST00000421442.2	-	6	699	c.700G>C	c.(700-702)Gga>Cga	p.G234R	THPO_ENST00000445696.2_Silent_p.P268P|THPO_ENST00000204615.7_Silent_p.P272P|EIF2B5_ENST00000444495.1_Intron			P40225	TPO_HUMAN	thrombopoietin	0					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAAATGTCCGGGGCTCCTA	0.562000													34	110					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667698	70667698	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:70667698T>C	ENST00000260126.4	-	4	1925	c.1219A>G	c.(1219-1221)Aaa>Gaa	p.K407E	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K407E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K407E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAAACTTTTTTGTCCGCTTGT	0.368000													18	52					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151680135	151680135	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:151680135G>A	ENST00000392800.2	+	4	687	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.E145K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	145	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTCTATAATGAAGAATGTAA	0.428000													26	99					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861857	25861857	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:25861857A>G	ENST00000397060.4	-	5	729	c.620T>C	c.(619-621)tTa>tCa	p.L207S	SLC17A3_ENST00000360657.3_Missense_Mutation_p.L129S|SLC17A3_ENST00000361703.6_Missense_Mutation_p.L129S	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	129					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CTTACCTGATAAAGCAATGCT	0.423000													24	62					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696609	68696609	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:68696609C>T	ENST00000303145.7	-	12	1849	c.1763G>A	c.(1762-1764)gGt>gAt	p.G588D	MDM1_ENST00000411698.2_Missense_Mutation_p.G553D|MDM1_ENST00000540418.1_Missense_Mutation_p.G308D	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	588						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGTTTTTATACCAGCAGCTGG	0.348000													20	81					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100988255	100988255	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:100988255T>C	ENST00000369162.2	-	37	5903	c.5559A>G	c.(5557-5559)gaA>gaG	p.E1853E		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1853	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTGTATATTCTTCTGCATCCT	0.338000													10	20					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489396	128489396	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:128489396G>A	ENST00000325888.8	+	30	5224	c.4963G>A	c.(4963-4965)Ggc>Agc	p.G1655S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1655S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1655					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCCTGCCTGGGCCCTCGAAT	0.682000													8	40					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115392859	115392859	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:115392859G>T	ENST00000369358.4	-	16	1860	c.1616C>A	c.(1615-1617)gCc>gAc	p.A539D	NRAP_ENST00000369360.3_Missense_Mutation_p.A504D|NRAP_ENST00000360478.3_Missense_Mutation_p.A504D|NRAP_ENST00000359988.3_Missense_Mutation_p.A539D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	539						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GAAGAGTTTGGCATTGGTTTT	0.458000													16	46					5.01169e-05	5.29215e-05	1	1	0
LAD1	3898	broad.mit.edu	37	1	201351435	201351435	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:201351435G>C	ENST00000391967.2	-	9	1794	c.1493C>G	c.(1492-1494)tCt>tGt	p.S498C	LAD1_ENST00000367313.3_Missense_Mutation_p.S512C	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	498						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTCGGTTGCAGATGATGCTTT	0.612000													14	52					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362896	49362896	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:49362896G>A	ENST00000263265.6	-	7	1077	c.522C>T	c.(520-522)ccC>ccT	p.P174P	PLEKHA4_ENST00000355496.5_Silent_p.P174P|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	174	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGGGGCCGCCGGGGCCCTCCC	0.622000													11	27					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22750545	22750545	+	RNA	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:22750545G>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_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						ACTCAACGCTGGGAGTATTTC	0.363000													3	9					0.115264	0.116066	1	1	0
MYOC	4653	broad.mit.edu	37	1	171621560	171621560	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:171621560C>T	ENST00000037502.6	-	1	263	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response						anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCTGGCTCTGCTCTGGGC	0.582000													10	123					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129196976	129196976	+	Missense_Mutation	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:129196976T>G	ENST00000296266.3	+	13	1610	c.1418T>G	c.(1417-1419)aTg>aGg	p.M473R	IFT122_ENST00000507564.1_Missense_Mutation_p.M414R|IFT122_ENST00000440957.2_Missense_Mutation_p.M213R|IFT122_ENST00000347300.2_Missense_Mutation_p.M363R|IFT122_ENST00000431818.2_Missense_Mutation_p.M272R|IFT122_ENST00000348417.2_Missense_Mutation_p.M422R|IFT122_ENST00000504021.1_Missense_Mutation_p.M316R|IFT122_ENST00000349441.2_Missense_Mutation_p.M311R	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	422					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTATCAGACATGCATTACCGG	0.458000													17	50					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653440	6653440	+	Silent	SNP	G	G	A	rs141252990	byFrequency	TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:6653440G>A	ENST00000377658.4	-	4	1830	c.1779C>T	c.(1777-1779)ccC>ccT	p.P593P	KLHL21_ENST00000377663.3_3'UTR|KLHL21_ENST00000467612.1_Silent_p.P226P	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	593					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCAGCTCATCGGGGTCCCGCG	0.682000													6	21					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1079965	1079965	+	Silent	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:1079965G>T	ENST00000313093.2	+	13	1782	c.1551G>T	c.(1549-1551)acG>acT	p.T517T	HMHA1_ENST00000543365.1_Silent_p.T400T|HMHA1_ENST00000590214.1_Silent_p.T544T|HMHA1_ENST00000539243.2_Silent_p.T533T|HMHA1_ENST00000590577.1_Silent_p.T152T|HMHA1_ENST00000536472.1_Silent_p.T357T|HMHA1_ENST00000586866.1_Silent_p.T521T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	517					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ATATGCAGACGGCGCCGCTGC	0.677000													25	83					3.28513e-13	3.76186e-13	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48389067	48389067	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:48389067G>A	ENST00000380518.3	-	11	897	c.733C>T	c.(733-735)Cct>Tct	p.P245S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P176S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	245	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGGACCAGGAGGACCACGG	0.498000													7	49					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:53852082G>A	ENST00000315251.6	-	9	1944	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase						alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTTTTGCCCGCACAAAGGCA	0.582000													4	94					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110685755	110685755	+	Silent	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:110685755T>A	ENST00000394634.2	-	3	627	c.420A>T	c.(418-420)atA>atT	p.I140I	CFI_ENST00000510800.1_Silent_p.I140I|CFI_ENST00000394635.3_Silent_p.I140I|CFI_ENST00000512148.1_Silent_p.I140I	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	140	SRCR.				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)		TGCTTTTGCATATGAACATTG	0.418000													19	103					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936536	150936536	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:150936536C>G	ENST00000392811.2	-	13	1779	c.1305G>C	c.(1303-1305)gaG>gaC	p.E435D	SMARCD3_ENST00000262188.8_Missense_Mutation_p.E448D|SMARCD3_ENST00000356800.2_Missense_Mutation_p.E435D	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	448					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGTAGAACTCAGCCCGGC	0.627000													14	43					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902070	51902070	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:51902070A>T	ENST00000268919.4	+	1	1832	c.1676A>T	c.(1675-1677)cAt>cTt	p.H559L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	559					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCGATTGGACATGAGGCACCA	0.383000													16	102					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12311926	12311926	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:12311926C>T	ENST00000261349.4	-	12	2704	c.2628G>A	c.(2626-2628)gtG>gtA	p.V876V	LRP6_ENST00000543091.1_Silent_p.V876V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	876	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGATGTCCATCACATAATCCA	0.522000													16	35					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208600	53208600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:53208600C>A	ENST00000543227.1	-	6	1982	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	ZNF611_ENST00000540744.1_Nonsense_Mutation_p.E570*|ZNF611_ENST00000595798.1_Nonsense_Mutation_p.E501*|ZNF611_ENST00000319783.1_Nonsense_Mutation_p.E570*|ZNF611_ENST00000453741.2_Nonsense_Mutation_p.E501*|ZNF611_ENST00000602162.1_Nonsense_Mutation_p.E501*	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTGCTGCACTCATTACACTTG	0.408000													68	233					8.73484e-25	1.05012e-24	1	1	0
CMKLR1	1240	broad.mit.edu	37	12	108686265	108686265	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:108686265C>G	ENST00000397688.2	-	3	838	c.469G>C	c.(469-471)Gcc>Ccc	p.A157P	CMKLR1_ENST00000550402.1_Missense_Mutation_p.A159P|CMKLR1_ENST00000412676.1_Missense_Mutation_p.A159P|CMKLR1_ENST00000312143.7_Missense_Mutation_p.A159P|CMKLR1_ENST00000552995.1_Missense_Mutation_p.A157P	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	159					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCATGCAGGCCATGTAAGCC	0.562000													7	42					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675473	17675473	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:17675473C>T	ENST00000262077.2	-	4	709	c.710G>A	c.(709-711)gGa>gAa	p.G237E	NUP153_ENST00000537253.1_Missense_Mutation_p.G237E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	237					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGAAAGTGTTCCAAAGGCAGA	0.413000													26	80					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	48					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23207528	23207528	+	Silent	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:23207528G>T	ENST00000339077.5	+	9	1494	c.1251G>T	c.(1249-1251)ctG>ctT	p.L417L	KLHL7_ENST00000545443.1_Silent_p.L395L|KLHL7_ENST00000322231.7_Silent_p.L395L|KLHL7_ENST00000409689.1_Silent_p.L369L|KLHL7_ENST00000542558.1_Silent_p.L192L|KLHL7_ENST00000539124.1_Silent_p.L341L	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCAGCATGCTGACCCAGCGCT	0.463000													20	52					1.01871e-10	1.14539e-10	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36897260	36897260	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:36897260C>T	ENST00000429976.2	-	12	4068	c.3821G>A	c.(3820-3822)cGg>cAg	p.R1274Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.R724Q|TRANK1_ENST00000301807.6_Missense_Mutation_p.R724Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1274					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						CACGTACACCCGGGGGTCACT	0.478000													33	115					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955754	51955754	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:51955754G>A	ENST00000321424.3	-	7	1445	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P367L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P351L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	460					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTGTCCCTGCGGGTCCTGAGG	0.567000													23	74					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32198145	32198145	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:32198145C>A	ENST00000373658.3	-	27	4034	c.3693G>T	c.(3691-3693)tcG>tcT	p.S1231S	BAI2_ENST00000440175.2_Silent_p.S840S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.S1198S|BAI2_ENST00000398538.1_Silent_p.S1219S|BAI2_ENST00000398542.1_Silent_p.S1131S|BAI2_ENST00000373655.2_Silent_p.S1231S|BAI2_ENST00000398556.3_Silent_p.S1146S|BAI2_ENST00000398547.1_Silent_p.S1164S|BAI2_ENST00000527361.1_Silent_p.S1198S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1231					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGTTCTTACACGAGTCAGGGG	0.652000													12	24					2.32078e-09	2.58926e-09	1	1	0
RP1	6101	broad.mit.edu	37	8	55533959	55533959	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:55533959G>A	ENST00000220676.1	+	2	581	c.433G>A	c.(433-435)Gct>Act	p.A145T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	145					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)			CGTAGCCGTCGCTGCTCCCGG	0.701000													14	51					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	124036744	124036744	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:124036744C>A	ENST00000306315.5	-	2	1560	c.1125G>T	c.(1123-1125)gtG>gtT	p.V375V	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	375						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTTCCAAATTCACACTGGTCC	0.443000													20	23					2.37509e-13	2.72696e-13	1	1	0
UBR5	51366	broad.mit.edu	37	8	103324700	103324700	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:103324700T>C	ENST00000520539.1	-	17	2627	c.2021A>G	c.(2020-2022)gAt>gGt	p.D674G	UBR5_ENST00000521922.1_Missense_Mutation_p.D668G|UBR5_ENST00000220959.4_Missense_Mutation_p.D674G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	674					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATAGGCACCATCTACTTTTAG	0.373000													27	66					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95862308	95862308	+	Missense_Mutation	SNP	A	A	G	rs144127105		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:95862308A>G	ENST00000523731.1	+	12	1629	c.1496A>G	c.(1495-1497)tAt>tGt	p.Y499C	INTS8_ENST00000447247.1_Missense_Mutation_p.Y499C	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	499					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACTTCATTTTATGATATCCCA	0.373000													18	64					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934656	49934656	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:49934656G>A	ENST00000221485.3	-	10	1371	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	SLC17A7_ENST00000600601.1_Silent_p.S333S|SLC17A7_ENST00000543531.1_Silent_p.S388S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	400					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCACGCCCTTGGAGTGCGAGT	0.677000													21	43					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31828351	31828351	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:31828351C>A	ENST00000375631.4	-	4	792	c.663G>T	c.(661-663)ggG>ggT	p.G221G		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	221						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GCTCCAGCGTCCCATGGCCAC	0.632000													15	39					2.31682e-05	2.45844e-05	1	1	0
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													3	52					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417584	150417584	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:150417584T>C	ENST00000307194.5	+	3	632	c.492T>C	c.(490-492)gaT>gaC	p.D164D		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTGCACGATTACGTGAGCA	0.652000													11	45					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147796039	147796039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:147796039G>A	ENST00000513335.1	-	8	905	c.706C>T	c.(706-708)Caa>Taa	p.Q236*	TTC29_ENST00000325106.4_Nonsense_Mutation_p.Q210*|TTC29_ENST00000398886.4_Nonsense_Mutation_p.Q236*			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	210							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTGTCAATTGATGGAATGCT	0.453000													4	52					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348000													4	130					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401753	89401753	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:89401753T>C	ENST00000439576.2	+	12	6311	c.5937T>C	c.(5935-5937)tcT>tcC	p.S1979S	ACAN_ENST00000352105.7_Silent_p.S1979S|ACAN_ENST00000561243.1_Silent_p.S1979S|ACAN_ENST00000559004.1_Silent_p.S1979S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1979					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGAGCATTCTGGATTTCTGG	0.557000													3	43					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804871	22804871	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr18:22804871A>G	ENST00000361524.3	-	4	3159	c.3011T>C	c.(3010-3012)tTa>tCa	p.L1004S	ZNF521_ENST00000538137.2_Missense_Mutation_p.L1004S|ZNF521_ENST00000584787.1_Missense_Mutation_p.L784S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1004					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCAATGCTCTAAAAACTCCTC	0.468000			T	PAX5	ALL								16	17					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32636230	32636230	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:32636230A>T	ENST00000335185.5	-	16	1677	c.1634T>A	c.(1633-1635)aTa>aAa	p.I545K		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	545										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTGTTTCTATTGCTGTATC	0.299000													21	18					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013504	133013504	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:133013504C>G	ENST00000367928.4	-	5	1059	c.1046G>C	c.(1045-1047)gGa>gCa	p.G349A		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	349					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TCCTGCAACTCCTGTGAGCTT	0.408000													16	46					0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43214494	43214494	+	Silent	SNP	A	A	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:43214494A>C	ENST00000431281.1	+	7	872	c.403A>C	c.(403-405)Aga>Cga	p.R135R	ACBD4_ENST00000591859.1_Silent_p.R135R|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000376955.4_Silent_p.R135R|ACBD4_ENST00000321854.8_Silent_p.R135R|ACBD4_ENST00000586346.1_Silent_p.R135R|ACBD4_ENST00000592162.1_Silent_p.R135R|ACBD4_ENST00000398322.3_Silent_p.R135R	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	135							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GACCTTCCTGAGAAGGGTCAC	0.612000													15	42					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116798054	116798054	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:116798054C>A	ENST00000375300.1	-	4	502	c.497G>T	c.(496-498)cGt>cTt	p.R166L	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.R108L|SIK3_ENST00000292055.4_Missense_Mutation_p.R108L|SIK3_ENST00000446921.2_Missense_Mutation_p.R166L|SIK3_ENST00000434315.2_Missense_Mutation_p.R7L			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	108	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTTCCGACGTGCCTCCTT	0.408000													70	42					5.94106e-25	7.16228e-25	1	1	0
UFL1	23376	broad.mit.edu	37	6	96971031	96971031	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:96971031G>A	ENST00000369278.4	+	2	153	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	29	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										GGTTGTCCGAGCGGAACTGCA	0.353000													26	55					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43195397	43195397	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:43195397C>T	ENST00000322765.5	-	7	1337	c.1224G>A	c.(1222-1224)cgG>cgA	p.R408R	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	408	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GGACCACGTCCCGGAAGAGAA	0.662000													6	20					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90360540	90360540	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:90360540C>G	ENST00000369393.3	-	96	16057	c.15942G>C	c.(15940-15942)caG>caC	p.Q5314H	MDN1_ENST00000428876.1_Missense_Mutation_p.Q5314H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5314					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAGGTAACTCTGCCACATCT	0.468000													5	31					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353089	23353089	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:23353089G>A	ENST00000379361.4	+	1	957	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	33					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTCGGCGCCGGTGCTCATCTC	0.647000													6	18					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4002313	4002313	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:4002313G>T	ENST00000404826.2	+	9	1398	c.1259G>T	c.(1258-1260)tGg>tTg	p.W420L	SDK1_ENST00000389531.3_Missense_Mutation_p.W420L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	420	Ig-like C2-type 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCCTCCAGTGGTACAAGGAT	0.522000													3	15					1	1	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112903520	112903520	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:112903520C>G	ENST00000161863.4	+	23	3431	c.3218C>G	c.(3217-3219)gCt>gGt	p.A1073G		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1073							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCAAGTAATGCTCTTCAGGAA	0.323000													24	25					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79312680	79312680	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:79312680C>A	ENST00000305089.3	-	5	451	c.371G>T	c.(370-372)tGg>tTg	p.W124L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin.				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						TCCAGTGTCCCAGGACTTGTA	0.547000													20	25					7.88262e-20	9.34716e-20	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75823318	75823318	+	Splice_Site	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:75823318G>A	ENST00000322507.8	-	50	8149	c.7840C>T	c.(7840-7842)Cct>Tct	p.P2614S	COL12A1_ENST00000345356.6_Splice_Site_p.P1450S|COL12A1_ENST00000416123.2_Splice_Site_p.P2614S|COL12A1_ENST00000483888.2_Splice_Site_p.P2614S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2614	Nonhelical region (NC3).|TSP N-terminal.			P -> S (in Ref. 5; AAB23937).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATTCTTACGATCTGCAATC	0.313000													18	40					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421195	1421195	+	Missense_Mutation	SNP	G	G	T	rs141667597		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:1421195G>T	ENST00000308647.7	+	9	1056	c.940G>T	c.(940-942)Gtg>Ttg	p.V314L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	314							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCCCAGGACGTGCTGGAGGG	0.677000													10	34					1.5842e-08	1.74062e-08	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20698699	20698699	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:20698699G>A	ENST00000443026.2	+	6	929	c.383G>A	c.(382-384)aGg>aAg	p.R128K	ABCB5_ENST00000406935.1_Intron|ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000258738.6_Intron	NM_001163942.1	NP_001157414.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	0	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATACCCCCAGGTATTCATTT	0.478000													41	128					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33700373	33700373	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr22:33700373C>T	ENST00000354992.2	-	13	2143	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	LARGE_ENST00000452586.2_Missense_Mutation_p.M323I|LARGE_ENST00000397394.2_Missense_Mutation_p.M524I|LARGE_ENST00000437602.2_Missense_Mutation_p.M524I|LARGE_ENST00000402320.1_Missense_Mutation_p.M472I|LARGE_ENST00000337431.2_Missense_Mutation_p.M472I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	524					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGTGGCGGCTCATAAGCACCT	0.622000													17	28					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29187495	29187495	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:29187495G>A	ENST00000321990.4	+	10	3379	c.3001G>A	c.(3001-3003)Gta>Ata	p.V1001I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1001					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGGAAACTCGTAGAAGCAGA	0.348000													7	70					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96341143	96341143	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:96341143C>T	ENST00000348459.5	+	11	1198	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	HELLS_ENST00000394045.1_Intron|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.R365C|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	365	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TATGAAGTGCCGTCTAATCAG	0.328000													3	39					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19969209	19969209	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr22:19969209C>T	ENST00000263207.3	-	5	712	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406259.1_Missense_Mutation_p.V141M|ARVCF_ENST00000344269.3_Missense_Mutation_p.V78M|ARVCF_ENST00000406522.1_Missense_Mutation_p.V78M|ARVCF_ENST00000401994.1_Missense_Mutation_p.V78M	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	141					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGGGCCCACGGGCACCTGG	0.637000													18	22					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952707	54952707	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:54952707G>A	ENST00000273286.5	-	3	979	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L197F|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	273						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTGGGTTTGAGCTCGCACTCC	0.607000													18	42					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723962	38723962	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:38723962C>A	ENST00000342213.2	-	1	1612	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	422						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAAGCAGAGCTTGACAAGCC	0.562000													18	29					1.37522e-17	1.60875e-17	1	1	0
LPA	4018	broad.mit.edu	37	6	160998207	160998207	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:160998207G>A	ENST00000447678.1	-	29	4712	c.4592C>T	c.(4591-4593)cCa>cTa	p.P1531L	LPA_ENST00000316300.5_Missense_Mutation_p.P1531L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4039	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATGCCAGTGTGGTATCATAGA	0.458000													38	149					0	0	1	0	0
CSRP2	1466	broad.mit.edu	37	12	77254128	77254128	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:77254128G>T	ENST00000311083.5	-	4	470	c.347C>A	c.(346-348)gCt>gAt	p.A116D	CSRP2_ENST00000547435.1_Missense_Mutation_p.A116D|CSRP2_ENST00000546966.1_Missense_Mutation_p.A116D|CSRP2_ENST00000552330.1_Missense_Mutation_p.A166D	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	116					multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ACACTTCTCAGCACCTCCATA	0.398000													33	82					9.17885e-22	1.0944e-21	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10291225	10291225	+	Silent	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:10291225G>T	ENST00000340748.4	-	4	481	c.246C>A	c.(244-246)gtC>gtA	p.V82V	DNMT1_ENST00000540357.1_Silent_p.V82V|DNMT1_ENST00000359526.4_Silent_p.V82V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	82	Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				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)	AAAGGGATTTGACTTTAGCCA	0.423000													4	102					0.014758	0.0150351	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477197	110477197	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:110477197T>C	ENST00000378402.5	+	49	8240	c.8136T>C	c.(8134-8136)caT>caC	p.H2712H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2712					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGTCGGCCATCTTGATGAAC	0.468000										HNSCC(38;0.096)			69	85					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385791	54385791	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:54385791C>T	ENST00000263431.3	+	1	325	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	PRKCG_ENST00000536044.1_Missense_Mutation_p.P15S|PRKCG_ENST00000540413.1_Missense_Mutation_p.P15S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	15					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AGAGGGGGGACCCCGGCCCCT	0.617000													17	95					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2005857	2005857	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:2005857C>A	ENST00000262113.4	+	5	660	c.519C>A	c.(517-519)ctC>ctA	p.L173L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	173	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGAAACTCTGCTTCACCG	0.562000													9	17					0.000673444	0.000700899	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36332721	36332721	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:36332721A>T	ENST00000378910.5	-	20	2710	c.2711T>A	c.(2710-2712)cTg>cAg	p.L904Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.L904Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	904	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCAATGGTCAGGAGGCTGCT	0.562000													3	13					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26669438	26669438	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:26669438C>T	ENST00000226225.2	+	6	951	c.684C>T	c.(682-684)atC>atT	p.I228I	TNFAIP1_ENST00000544907.2_Silent_p.I124I|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	228					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTACCTCCATCGTGTATGCCA	0.607000													8	20					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237804286	237804286	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:237804286G>C	ENST00000366574.2	+	47	7522	c.7205G>C	c.(7204-7206)tGt>tCt	p.C2402S	RYR2_ENST00000542537.1_Missense_Mutation_p.C2386S|RYR2_ENST00000360064.6_Missense_Mutation_p.C2400S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2402	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGGACGCTGTGCTCCTGAG	0.463000													4	6					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116403161	116403161	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:116403161C>A	ENST00000397752.3	+	11	2622	c.2422C>A	c.(2422-2424)Cag>Aag	p.Q808K	MET_ENST00000318493.6_Missense_Mutation_p.Q826K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	808	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCCTGCAACAGCTGAATCT	0.393000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				17	94					1.87028e-06	2.01415e-06	1	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168396	142168396	+	RNA	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:142168396G>A	ENST00000454561.2	-	0	527																											TGCTGGCACAGAGATACAGGG	0.527000													21	67					0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483101	54483101	+	Missense_Mutation	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:54483101T>A	ENST00000317802.7	-	1	308	c.188A>T	c.(187-189)gAt>gTt	p.D63V	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	63					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						ATCTGCGGGATCCTGGGGCGC	0.617000													41	42					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338919	54338919	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:54338919G>A	ENST00000243056.3	+	2	1028	c.872G>A	c.(871-873)cGg>cAg	p.R291Q		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	291						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GAGAAGCGCCGGCGCATCTCC	0.582000			T	NUP98	AML								18	50					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146747884	146747884	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:146747884T>C	ENST00000369258.4	+	14	1522	c.1502T>C	c.(1501-1503)cTg>cCg	p.L501P	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.L220P|CHD1L_ENST00000431239.1_Missense_Mutation_p.L407P|CHD1L_ENST00000369259.3_Missense_Mutation_p.L297P	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	501	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CATTTTACTCTGGGAGCCCAG	0.468000													10	118					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553886	84553886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:84553886C>T	ENST00000286744.5	+	10	1218	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q332*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	332						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.Q332E(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGCGTGGTTCAGTTCTTCTT	0.493000													11	32					0	0	1	0	0
PGAM5	192111	broad.mit.edu	37	12	133294075	133294075	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:133294075A>G	ENST00000498926.2	+	3	479	c.421A>G	c.(421-423)Aag>Gag	p.K141E	PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.K141E	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	141						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CTTGGGGTTGAAGTTTAATAA	0.612000													10	32					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256509	63256509	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:63256509C>A	ENST00000323865.3	-	1	1271	c.1038G>T	c.(1036-1038)acG>acT	p.T346T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	346					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGATGCCCAGCGTCTTCACTG	0.607000													22	35					2.37509e-13	2.72696e-13	1	1	0
CDYL2	124359	broad.mit.edu	37	16	80718994	80718994	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:80718994C>T	ENST00000570137.2	-	2	212	c.57G>A	c.(55-57)aaG>aaA	p.K19K	CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Silent_p.K19K|CDYL2_ENST00000562812.1_Silent_p.K19K|CDYL2_ENST00000566173.1_Silent_p.K19K	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2		Chromo.					nucleus	catalytic activity|protein binding	p.K19N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATTTTCCTTTCTTGTTCTTCC	0.488000													24	50					0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105478227	105478227	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:105478227C>G	ENST00000336219.3	-	2	195	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	CDCA4_ENST00000392590.3_Missense_Mutation_p.E14Q	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	14						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		ACGTCTTCCTCGTGGCCAACA	0.567000													8	50					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933444	70933444	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:70933444G>A	ENST00000264436.4	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C|ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCGAAGGCGCATGTACTCG	0.647000													6	34					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210382	37210382	+	Missense_Mutation	SNP	A	A	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:37210382A>C	ENST00000585696.1	+	3	1893	c.663A>C	c.(661-663)aaA>aaC	p.K221N	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.K221N|ZNF567_ENST00000536254.2_Missense_Mutation_p.K252N|ZNF567_ENST00000588311.1_Missense_Mutation_p.K221N|ZNF567_ENST00000392163.2_Missense_Mutation_p.K221N			Q8N184	ZN567_HUMAN	zinc finger protein 567	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGAAAAAAAACATACATGCA	0.353000													18	40					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093007	30093007	+	RNA	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr18:30093007C>T	ENST00000567636.1	+	0	1382					NR_003558.1																						ACAAGCACCTCCCATGCTTCA	0.572000													3	6					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088077	43088077	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:43088077T>C	ENST00000359467.3	-	5	2435	c.2321A>G	c.(2320-2322)gAa>gGa	p.E774G	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	774						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATAAGGTTTTTCTCCTATGTG	0.408000													14	76					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49200362	49200362	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:49200362C>A	ENST00000321895.6	-	2	1386	c.1280G>T	c.(1279-1281)cGt>cTt	p.R427L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	427										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTTATGGCACGGAACTTCAG	0.582000													6	35					0.0215528	0.0218549	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162050	90162050	+	RNA	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:90162050G>C	ENST00000564451.1	+	0	1403				TUBB8P7_ENST00000567960.1_RNA																							CCGTTTCCCCGGCTGCATTTC	0.612000													8	13					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42491761	42491761	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:42491761G>A	ENST00000398675.3	-	6	1171	c.939C>T	c.(937-939)atC>atT	p.I313I	GXYLT1_ENST00000280876.6_Silent_p.I282I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	313					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CACCCCATGTGATGTTTAGTT	0.289000													25	97					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903519	112903519	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:112903519G>T	ENST00000161863.4	+	23	3430	c.3217G>T	c.(3217-3219)Gct>Tct	p.A1073S		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1073							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGCAAGTAATGCTCTTCAGGA	0.318000													24	27					4.22769e-11	4.79065e-11	1	1	0
BEST4	266675	broad.mit.edu	37	1	45253100	45253100	+	Missense_Mutation	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:45253100T>G	ENST00000372207.3	-	2	190	c.191A>C	c.(190-192)cAg>cCg	p.Q64P		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	64						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CCGGGCCACCTGAGCATACAC	0.582000													36	125					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87902658	87902658	+	Missense_Mutation	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:87902658T>A	ENST00000261622.4	-	1	436	c.371A>T	c.(370-372)tAc>tTc	p.Y124F		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	124					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CAGCGAGCCGTAGACCTCCAG	0.642000													11	11					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21939644	21939644	+	Silent	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:21939644A>G	ENST00000328843.6	+	82	13261	c.13230A>G	c.(13228-13230)aaA>aaG	p.K4410K	DNAH11_ENST00000409508.3_Silent_p.K4403K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4410					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCTGGATAAAACGCGCTTGA	0.433000									Kartagener syndrome				4	28					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19341607	19341607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr22:19341607G>A	ENST00000263208.5	-	22	2852	c.2596C>T	c.(2596-2598)Cag>Tag	p.Q866*	HIRA_ENST00000541063.1_Nonsense_Mutation_p.Q822*|HIRA_ENST00000340170.4_Nonsense_Mutation_p.Q659*|HIRA_ENST00000546308.1_Silent_p.L786L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	866	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCTGCACACTGAGCCAGTGAG	0.572000													3	7					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961229	30961229	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr21:30961229G>T	ENST00000399914.1	-	10	1975	c.1454C>A	c.(1453-1455)cCc>cAc	p.P485H	GRIK1_ENST00000535441.1_Missense_Mutation_p.P502H|GRIK1_ENST00000327783.4_Missense_Mutation_p.P500H|GRIK1_ENST00000309434.7_Missense_Mutation_p.P502H|GRIK1_ENST00000399907.1_Missense_Mutation_p.P500H|GRIK1_ENST00000399909.1_Missense_Mutation_p.P485H|GRIK1_ENST00000389124.2_Missense_Mutation_p.P500H|GRIK1_ENST00000399913.1_Missense_Mutation_p.P500H|GRIK1_ENST00000389125.3_Missense_Mutation_p.P485H			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	500					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTGCCATCGGGAACTAGTTT	0.383000													28	106					1.30988e-24	1.57041e-24	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113111554	113111554	+	Splice_Site	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:113111554T>G	ENST00000401611.2	+	16	1884	c.1884T>G	c.(1882-1884)gaT>gaG	p.D628E	NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000397957.4_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	353	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTCCACCAGATAGTGAGTATC	0.438000													26	76					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99470168	99470168	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:99470168C>G	ENST00000370188.3	-	1	420	c.60G>C	c.(58-60)atG>atC	p.M20I	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Missense_Mutation_p.M20I	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		20						integral to membrane	hydrolase activity										CCGTCCCTGCCATGATCACCA	0.652000													19	64					0	0	1	0	0
ATP5F1	515	broad.mit.edu	37	1	112003611	112003611	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:112003611A>G	ENST00000369722.3	+	7	1372	c.766A>G	c.(766-768)Atg>Gtg	p.M256V	ATP5F1_ENST00000483994.1_Missense_Mutation_p.M195V|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	256					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACAGCCAGTTATGTAAATGTA	0.408000													5	24					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445669	42445669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:42445669C>T	ENST00000381668.5	-	33	3267	c.3036G>A	c.(3034-3036)tgG>tgA	p.W1012*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.W997*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1012					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CGATGCTCCCCCATATCGCTA	0.453000													16	71					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49731071	49731071	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:49731071C>A	ENST00000451037.2	-	5	1432	c.492G>T	c.(490-492)gaG>gaT	p.E164D	CA10_ENST00000570565.1_Missense_Mutation_p.E89D|CA10_ENST00000442502.2_Missense_Mutation_p.E164D|CA10_ENST00000285273.4_Missense_Mutation_p.E164D|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.E170D	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	164					brain development					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)			TCGTATATAGCTCATGGTTAT	0.398000													6	47					0.00307968	0.00317478	1	1	0
HR	55806	broad.mit.edu	37	8	21978627	21978627	+	Missense_Mutation	SNP	T	T	A	rs150013665		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:21978627T>A	ENST00000381418.4	-	10	3798	c.2318A>T	c.(2317-2319)cAt>cTt	p.H773L	HR_ENST00000312841.8_Missense_Mutation_p.H773L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	773							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TATTCGCTCATGGCCCAAGCA	0.662000													17	91					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16701233	16701233	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:16701233T>C	ENST00000443824.1	-	9	1732	c.989A>G	c.(988-990)cAc>cGc	p.H330R	CTPS2_ENST00000380241.3_Missense_Mutation_p.H330R|CTPS2_ENST00000359276.4_Missense_Mutation_p.H330R	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	330	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATTCAACTTGTGGTTGATGGC	0.483000													4	180					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066249	106066249	+	RNA	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:106066249C>T	ENST00000412518.1	-	0	107				IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA																							CAGCCCTGCCCGCTCCCAAGA	0.642000													4	12					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244390	141244390	+	Silent	SNP	G	G	A	rs151258191		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:141244390G>A	ENST00000287008.3	-	3	1653	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N	PCDH1_ENST00000394536.3_Silent_p.N502N|PCDH1_ENST00000456271.1_Silent_p.N490N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.N480N|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	502	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGACAGGTGCGTTGTCATTGA	0.532000													32	46					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360761	42360761	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:42360761A>G	ENST00000298119.4	+	4	2883	c.1694A>G	c.(1693-1695)aAg>aGg	p.K565R	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	565						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGGTCACCAAGGTTAGCAAT	0.443000										HNSCC(30;0.082)			26	81					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010732	73010732	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:73010732G>T	ENST00000313375.3	-	12	1947	c.1900C>A	c.(1900-1902)Caa>Aaa	p.Q634K	MLXIPL_ENST00000414749.2_Missense_Mutation_p.Q634K|MLXIPL_ENST00000434326.1_Missense_Mutation_p.Q540K|MLXIPL_ENST00000429400.2_Missense_Mutation_p.Q634K|MLXIPL_ENST00000395189.1_Missense_Mutation_p.Q541K|MLXIPL_ENST00000354613.1_Missense_Mutation_p.Q634K	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	634					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGATGGGTTGCGGGGGAGAG	0.667000													8	48					0.000157383	0.000165386	1	1	0
DRP2	1821	broad.mit.edu	37	X	100497446	100497446	+	Missense_Mutation	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:100497446T>A	ENST00000395209.3	+	8	1488	c.961T>A	c.(961-963)Tgg>Agg	p.W321R	DRP2_ENST00000538510.1_Missense_Mutation_p.W321R|DRP2_ENST00000541709.1_Missense_Mutation_p.W243R|DRP2_ENST00000402866.1_Missense_Mutation_p.W321R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	321					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAACGTCCGATGGAAACAACT	0.493000													26	87					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126432808	126432808	+	Splice_Site	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:126432808C>G	ENST00000525144.2	-	2	305		c.e2-1		KIRREL3_ENST00000529097.2_Splice_Site|KIRREL3_ENST00000533026.2_Splice_Site|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000525704.2_Splice_Site	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)						hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGGCCCAGCTCTGGAAGAGAA	0.547000													29	13					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38901777	38901777	+	Silent	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:38901777T>A	ENST00000454404.2	-	15	1941	c.1728A>T	c.(1726-1728)acA>acT	p.T576T	RASGRP4_ENST00000426920.2_Silent_p.T421T|RASGRP4_ENST00000586305.1_Silent_p.T596T|RASGRP4_ENST00000433821.2_Silent_p.T518T|RASGRP4_ENST00000587738.1_Silent_p.T610T|RASGRP4_ENST00000293062.9_Silent_p.T513T|RASGRP4_ENST00000587753.1_Silent_p.T541T	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	610					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGGAGCTGGTGTGGATGGGA	0.602000													14	19					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848389	117848389	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:117848389G>T	ENST00000350763.4	-	3	2032	c.1621C>A	c.(1621-1623)Cgc>Agc	p.R541S	TNC_ENST00000346706.3_Missense_Mutation_p.R541S|TNC_ENST00000345230.3_Missense_Mutation_p.R541S|TNC_ENST00000341037.4_Missense_Mutation_p.R541S|TNC_ENST00000423613.2_Missense_Mutation_p.R541S|TNC_ENST00000542877.1_Missense_Mutation_p.R541S|TNC_ENST00000535648.1_Missense_Mutation_p.R541S|TNC_ENST00000340094.3_Missense_Mutation_p.R541S|TNC_ENST00000537320.1_Missense_Mutation_p.R541S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	541	EGF-like 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.R541C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCACACAGCGACCCTGGCCA	0.592000													10	20					0.000442599	0.000462863	1	1	0
SCAF11	9169	broad.mit.edu	37	12	46322635	46322635	+	Silent	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:46322635A>G	ENST00000369367.3	-	11	1082	c.849T>C	c.(847-849)tcT>tcC	p.S283S	SCAF11_ENST00000419565.2_Silent_p.S283S|SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000549162.1_Silent_p.S91S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	283					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATCCCTTGCAAGAAGTACCta	0.299000													26	94					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227496	39227496	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:39227496G>A	ENST00000340369.3	-	2	3669	c.3441C>T	c.(3439-3441)ccC>ccT	p.P1147P	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1147							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGTCCTCACGGGATGAGCGG	0.622000													13	37					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129694847	129694847	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:129694847A>G	ENST00000302649.3	+	2	715	c.188A>G	c.(187-189)cAa>cGa	p.Q63R	TRH_ENST00000507066.1_Missense_Mutation_p.Q63R	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	63					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CAGCGGCTGCAAGGGGACCAG	0.667000													3	26					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961900	34961900	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:34961900A>T	ENST00000329357.5	+	1	988	c.952A>T	c.(952-954)Agt>Tgt	p.S318C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	318	Pro-rich.									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						TCAGGTGTCCAGTCTCTGCCC	0.612000													37	108					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134999801	134999801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:134999801G>T	ENST00000304613.3	+	6	970	c.949G>T	c.(949-951)Gag>Tag	p.E317*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.E317*|KNDC1_ENST00000368571.2_Nonsense_Mutation_p.E252*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	317					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGACAGCCCCGAGGCCACCCT	0.642000													15	20					6.72482e-11	7.58071e-11	1	1	0
PDK4	5166	broad.mit.edu	37	7	95221903	95221903	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:95221903A>G	ENST00000005178.5	-	5	733	c.536T>C	c.(535-537)aTa>aCa	p.I179T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	179	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GTCACTAAATATAAGAACTGT	0.358000													29	95					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172579289	172579289	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:172579289C>G	ENST00000367723.4	+	23	4232	c.4108C>G	c.(4108-4110)Cta>Gta	p.L1370V	SUCO_ENST00000263688.3_Missense_Mutation_p.L1219V|SUCO_ENST00000608151.1_Missense_Mutation_p.L1371V|SUCO_ENST00000610051.1_Missense_Mutation_p.L848V	NM_016227.2	NP_057311.3			SUN domain containing ossification factor									p.L1371V(1)|p.L1219V(1)									GATAAAAACTCTAATACAGAC	0.418000													7	71					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26634118	26634118	+	Silent	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:26634118C>G	ENST00000381340.3	-	43	6485	c.6069G>C	c.(6067-6069)ctG>ctC	p.L2023L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2023					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTATGTCATTCAGAATCAAAG	0.378000													13	40					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111321986	111321986	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:111321986C>T	ENST00000308208.5	+	8	1248	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	CCDC63_ENST00000552694.1_Missense_Mutation_p.R257W|CCDC63_ENST00000545036.1_Missense_Mutation_p.R296W	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	336										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAATTTTGCTCGGTTCACGTA	0.552000													14	48					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112115551	112115551	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:112115551G>A	ENST00000403825.3	+	12	1594	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T	IFRD1_ENST00000535603.1_Missense_Mutation_p.A395T|IFRD1_ENST00000005558.4_Missense_Mutation_p.A445T	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	445					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGATAAGAGAGCAGATGTTGG	0.313000													12	42					0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122353786	122353786	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:122353786C>T	ENST00000541212.1	+	5	706	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	PSMD9_ENST00000542602.1_Missense_Mutation_p.R89C|PSMD9_ENST00000261817.2_Missense_Mutation_p.R193C|RP11-87C12.2_ENST00000546333.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	194	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GACAGTGATCCGCAGGGGGGA	0.478000													9	29					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70120328	70120328	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:70120328G>T	ENST00000245479.2	+	3	1702	c.1330G>T	c.(1330-1332)Gac>Tac	p.D444Y		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	444					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CGACTACACCGACCACCAGAA	0.632000													70	60					5.80444e-35	7.03666e-35	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188021	57188021	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:57188021G>T	ENST00000331162.4	-	5	1371	c.1101C>A	c.(1099-1101)aaC>aaA	p.N367K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTCTCATAAGGTTCGAGGATA	0.433000													25	73					4.26978e-12	4.87653e-12	1	1	0
SLIRP	81892	broad.mit.edu	37	14	78174474	78174474	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:78174474G>C	ENST00000557623.1	+	1	29	c.20G>C	c.(19-21)aGa>aCa	p.R7T	SLIRP_ENST00000238688.5_Missense_Mutation_p.R7T|SLIRP_ENST00000557431.1_Missense_Mutation_p.R7T|SLIRP_ENST00000557342.1_Missense_Mutation_p.R7T			Q9GZT3	SLIRP_HUMAN	SRA stem-loop interacting RNA binding protein	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	nucleotide binding|RNA binding			kidney(1)|prostate(1)	2						TCAGCAGCGAGAGGTGCTGCG	0.557000													10	46					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018296	176018296	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:176018296C>A	ENST00000510636.1	+	29	3899	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	CDHR2_ENST00000261944.5_Missense_Mutation_p.P1209T|CDHR2_ENST00000506348.1_Missense_Mutation_p.P1209T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1209					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCCTGCCATCCCAGGGACTAA	0.597000													6	16					0.0215528	0.0218549	1	1	0
CNKSR2	22866	broad.mit.edu	37	X	21534645	21534645	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:21534645G>C	ENST00000425654.2	+	9	1333	c.853G>C	c.(853-855)Gac>Cac	p.D285H	CNKSR2_ENST00000379510.3_Missense_Mutation_p.D285H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.D285H|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	285	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ACTACGAGAGGACCCGAGTGG	0.413000													33	121					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													4	80					0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133095418	133095418	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:133095418A>G	ENST00000275227.4	-	9	1028	c.932T>C	c.(931-933)tTa>tCa	p.L311S	SLC18B1_ENST00000367918.1_3'UTR|SLC18B1_ENST00000538764.1_Missense_Mutation_p.L185S	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	311					transmembrane transport	integral to membrane											GGCTGTGATTAAGTTGCCAAA	0.403000													28	66					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17232380	17232380	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:17232380G>C	ENST00000261381.6	-	8	1680	c.1596C>G	c.(1594-1596)ttC>ttG	p.F532L	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	532					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGACCGTATGGAAGAAGGACT	0.582000													8	27					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74042242	74042242	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:74042242G>C	ENST00000307877.2	-	11	1337	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.I354M|SRP68_ENST00000602720.1_Missense_Mutation_p.I53M|SRP68_ENST00000355113.5_Missense_Mutation_p.I291M	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	392					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CATTACGCTTGATTGCCGTTG	0.547000													39	244					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386816	89386816	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:89386816G>A	ENST00000439576.2	+	6	1362	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	ACAN_ENST00000352105.7_Missense_Mutation_p.V330M|ACAN_ENST00000561243.1_Missense_Mutation_p.V330M|ACAN_ENST00000558207.1_Missense_Mutation_p.V330M|ACAN_ENST00000559004.1_Missense_Mutation_p.V330M	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	330					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCGTCTACGTGCATGCCAA	0.687000													17	36					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131909	91131909	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:91131909G>C	ENST00000373094.1	+	2	1515	c.670G>C	c.(670-672)Ggt>Cgt	p.G224R	PCDH11X_ENST00000361655.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G224R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G224R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G224R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	224	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGTTGAAGATGGTGGCTTTCC	0.413000													36	106					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102494116	102494116	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:102494116C>T	ENST00000360184.4	+	47	9373	c.9209C>T	c.(9208-9210)cCg>cTg	p.P3070L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3070	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCATGAACCCGTCCTCGGAG	0.567000													26	70					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230690	91230690	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:91230690A>T	ENST00000509176.1	+	2	1543	c.1255A>T	c.(1255-1257)Ata>Tta	p.I419L	CCSER1_ENST00000432775.2_Missense_Mutation_p.I419L|CCSER1_ENST00000333691.8_Missense_Mutation_p.I419L	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TTCAAAGATAATACCTACTTC	0.353000													13	80					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159495	39159495	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:39159495C>A	ENST00000359534.3	-	5	1009	c.671G>T	c.(670-672)cGc>cTc	p.R224L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	224					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CACGAAGTAGCGGTACAGGGC	0.567000													22	68					0.00278032	0.00287985	1	1	0
REG1P	5969	broad.mit.edu	37	2	79364255	79364255	+	RNA	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:79364255T>C	ENST00000444841.1	-	0	285																											GGGAGGGGATTAGTCTCATCT	0.512000													4	11					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54971912	54971912	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:54971912C>T	ENST00000375006.3	-	10	1128	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	PFKFB1_ENST00000545676.1_Missense_Mutation_p.R288Q|PFKFB1_ENST00000374992.2_Missense_Mutation_p.R153Q	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	353	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ATCTTGGTCTCGCAGTGCAAA	0.473000													10	47					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38812722	38812722	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:38812722C>G	ENST00000476049.1	-	6	861	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q	KRT222_ENST00000394052.3_Missense_Mutation_p.E274Q			Q8N1A0	KT222_HUMAN	keratin 222	274						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGCCTGACTTCTATATCTGGT	0.368000													27	136					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379918	10379918	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:10379918C>T	ENST00000397077.1	-	21	3802	c.3227G>A	c.(3226-3228)cGg>cAg	p.R1076Q	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R1076Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R1107Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R1121Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R1121Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1121					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCGCAGCTCCCGCTCCGCGTG	0.657000													8	44					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152679950	152679950	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:152679950C>G	ENST00000263985.6	-	2	341	c.301G>C	c.(301-303)Gat>Cat	p.D101H	PET112_ENST00000515812.1_Missense_Mutation_p.D101H|PET112_ENST00000512306.1_Missense_Mutation_p.D101H|PET112_ENST00000508611.1_Missense_Mutation_p.D101H	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	101						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGAGATGCATCAAAAAAAGAA	0.328000													30	143					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1564678	1564678	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:1564678C>G	ENST00000572621.1	-	26	4490	c.4225G>C	c.(4225-4227)Gaa>Caa	p.E1409Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1409Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1409						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CATGAATCTTCTAGGTCTTCT	0.453000													34	59					0	0	1	0	0
FAM127A	8933	broad.mit.edu	37	X	134166690	134166690	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:134166690G>A	ENST00000257013.7	+	1	358	c.277G>A	c.(277-279)Gat>Aat	p.D93N	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	93										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTCCTCAATGATTACCGGGG	0.637000													3	39					0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97817951	97817951	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:97817951C>A	ENST00000265992.5	+	6	1439	c.1072C>A	c.(1072-1074)Cag>Aag	p.Q358K	CCNJ_ENST00000534974.1_Missense_Mutation_p.Q358K|CCNJ_ENST00000465148.2_Missense_Mutation_p.Q369K|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.Q357K|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	358						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CCGGAGTTATCAGATAAATGA	0.438000													33	60					1.22384e-17	1.43553e-17	1	1	0
RUSC1	23623	broad.mit.edu	37	1	155296779	155296779	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:155296779G>A	ENST00000368352.5	+	8	2421	c.2270G>A	c.(2269-2271)cGt>cAt	p.R757H	RUSC1_ENST00000368347.4_Missense_Mutation_p.R347H|RUSC1_ENST00000368354.3_Missense_Mutation_p.R651H|RUSC1_ENST00000368349.4_Missense_Mutation_p.R288H|RUSC1_ENST00000292254.4_Missense_Mutation_p.R288H|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	757						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCACCGGGGCGTCATGGGACT	0.632000													10	75					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878938	131878938	+	Splice_Site	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:131878938C>A	ENST00000359827.3	-	14	3701	c.2739G>T	c.(2737-2739)caG>caT	p.Q913H	PLXNA4_ENST00000321063.4_Splice_Site_p.Q913H			Q9HCM2	PLXA4_HUMAN	plexin A4	913	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACACACGATCCTGCAGGGAG	0.602000													18	50					1.67942e-08	1.84057e-08	1	1	0
TNS1	7145	broad.mit.edu	37	2	218750467	218750467	+	Splice_Site	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:218750467C>T	ENST00000171887.4	-	13	1193	c.741G>A	c.(739-741)ttG>ttA	p.L247L	TNS1_ENST00000419504.1_Splice_Site_p.L247L|TNS1_ENST00000310858.6_Splice_Site_p.L278L|TNS1_ENST00000430930.1_Splice_Site_p.L247L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	247	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGCACTCACCAAGATGTCTC	0.517000													22	36					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46177994	46177994	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:46177994G>A	ENST00000590918.1	+	7	642	c.543G>A	c.(541-543)atG>atA	p.M181I	GIPR_ENST00000263281.3_Missense_Mutation_p.M181I|GIPR_ENST00000304207.8_Missense_Mutation_p.M145I	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	181					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CGTCTTTCATGCTGCGAGCTG	0.597000													10	44					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451595	37451595	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:37451595C>G	ENST00000374660.1	+	16	1850	c.1751C>G	c.(1750-1752)tCt>tGt	p.S584C	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S584C|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S584C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	640						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						GGGAAGCCATCTGCCTTCGAG	0.323000													28	139					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843242	4843242	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:4843242C>T	ENST00000322110.5	+	1	692	c.627C>T	c.(625-627)aaC>aaT	p.N209N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGGATCAACAGCATCCTTG	0.463000													31	35					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117568227	117568227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:117568227C>A	ENST00000256652.4	+	8	2583	c.2525C>A	c.(2524-2526)tCa>tAa	p.S842*	CD101_ENST00000369470.1_Nonsense_Mutation_p.S842*|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	842	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTAGGCAGCTCAGCCACTCTG	0.502000													11	57					3.86212e-05	4.08819e-05	1	1	0
MST1L	11223	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:17085189A>G	ENST00000455405.2	-	0	87																		p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572000													4	40					0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20716691	20716691	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr13:20716691G>A	ENST00000241125.3	-	2	913	c.737C>T	c.(736-738)cCg>cTg	p.P246L		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	246					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		TGTCCCCAGCGGGGCCTCGGA	0.721000													3	3					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903398	90903398	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:90903398A>T	ENST00000354377.3	+	4	521	c.335A>T	c.(334-336)gAg>gTg	p.E112V	ZNF774_ENST00000379090.5_Intron|ZNF774_ENST00000558115.1_3'UTR	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGAAACTGGGAGCAAGGCCTA	0.468000													18	25					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	62					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110222886	110222886	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:110222886A>G	ENST00000399132.1	-	2	820	c.290T>C	c.(289-291)cTg>cCg	p.L97P	COL25A1_ENST00000399127.1_Missense_Mutation_p.L97P|COL25A1_ENST00000399126.1_Missense_Mutation_p.L97P	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	97						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CACCTGAGCCAGAAGTCGCTC	0.537000													17	140					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967351	106967351	+	RNA	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:106967351C>A	ENST00000390622.2	-	0	352																											TGGGAGTGAGCACCTGCGGAG	0.557000													29	87					7.41945e-09	8.1727e-09	1	1	0
ZNF608	57507	broad.mit.edu	37	5	123982616	123982616	+	Nonsense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:123982616G>C	ENST00000306315.5	-	4	3896	c.3461C>G	c.(3460-3462)tCa>tGa	p.S1154*	ZNF608_ENST00000504926.1_Nonsense_Mutation_p.S727*	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1154						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGGAGCTTTTGAGATTGTGGC	0.473000													30	38					0	0	1	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165605	23165605	+	RNA	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr22:23165605A>G	ENST00000390317.2	+	0	338																											TGGTACCAACAGCACCCAGGC	0.577000													84	192					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286929	130286929	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:130286929G>C	ENST00000358511.6	+	5	1913	c.1882G>C	c.(1882-1884)Gac>Cac	p.D628H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D628H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	628	Nonhelical region.|VWFA 4.				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						GTTTCTGGTGGACAGTTCTGG	0.388000													19	48					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170003519	170003519	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:170003519T>C	ENST00000367765.1	-	7	2117	c.616A>G	c.(616-618)Aaa>Gaa	p.K206E	KIFAP3_ENST00000538366.1_Missense_Mutation_p.K168E|KIFAP3_ENST00000361580.2_Missense_Mutation_p.K246E|KIFAP3_ENST00000367767.1_Missense_Mutation_p.K202E	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	246					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATATCAGCTTTCTTCTTCTTT	0.328000													13	104					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46010025	46010025	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:46010025G>A	ENST00000296137.2	-	8	1006	c.801C>T	c.(799-801)gtC>gtT	p.V267V	FYCO1_ENST00000535325.1_Silent_p.V267V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	267					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTGCTGGCTGACAGCTGCCC	0.617000													16	31					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64718971	64718971	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:64718971G>A	ENST00000338957.4	+	3	908	c.841G>A	c.(841-843)Gac>Aac	p.D281N	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D270N	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	270							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCTATGATGACCGGTTCAT	0.423000													37	141					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148594962	148594962	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:148594962G>A	ENST00000322396.6	-	3	644	c.402C>T	c.(400-402)ttC>ttT	p.F134F	PRMT10_ENST00000541232.1_Silent_p.F21F	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	134						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTGCATCACTGAAATCAGGGT	0.363000													39	132					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034005	150034005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:150034005C>T	ENST00000359623.4	+	3	643	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	LRRC61_ENST00000323078.7_Nonsense_Mutation_p.Q19*|LRRC61_ENST00000493307.1_Nonsense_Mutation_p.Q19*	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	19										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GATCACACCCCAGCTGCTGAA	0.637000													21	48					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551482	99551482	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:99551482G>A	ENST00000373034.4	-	6	4915	c.3240C>T	c.(3238-3240)tcC>tcT	p.S1080S	PCDH19_ENST00000255531.7_Silent_p.S1033S|PCDH19_ENST00000420881.2_Silent_p.S1032S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1080					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTAAGACACGGAAGGCTTGG	0.592000													20	33					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													5	43					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169680185	169680185	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:169680185C>T	ENST00000046794.5	-	18	1798	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S	LCP2_ENST00000521416.1_Missense_Mutation_p.G190S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	395					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AAGTTTCTGCCTTCGGCTCTG	0.438000													3	5					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955359	113955359	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:113955359G>A	ENST00000482457.2	-	1	1066	c.563C>T	c.(562-564)cCc>cTc	p.P188L		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GCACTTGCAGGGCTTCTCTCC	0.478000													76	84					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94532600	94532600	+	Missense_Mutation	SNP	A	A	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:94532600A>C	ENST00000433060.2	+	3	385	c.244A>C	c.(244-246)Atc>Ctc	p.I82L	AMOTL1_ENST00000317837.9_Missense_Mutation_p.I82L|AMOTL1_ENST00000317829.8_Missense_Mutation_p.I32L	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	82						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTTCCTGAGGATCTCAGAGGT	0.478000													3	12					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153818	5153818	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:5153818C>T	ENST00000252321.3	+	1	734	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	169						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CGACCGCAACCGGCCCAGCTT	0.657000													5	50					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631237	11631237	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:11631237C>A	ENST00000262442.4	+	28	5880	c.5812C>A	c.(5812-5814)Cag>Aag	p.Q1938K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1938K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 1 (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)		GGTGGCAGTGCAGGTAAGGGC	0.502000													6	18					0.217242	0.218248	1	1	0
NRP2	8828	broad.mit.edu	37	2	206588552	206588552	+	Silent	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:206588552T>A	ENST00000360409.3	+	5	1499	c.708T>A	c.(706-708)tcT>tcA	p.S236S	NRP2_ENST00000417189.1_Silent_p.S236S|NRP2_ENST00000540841.1_Silent_p.S236S|NRP2_ENST00000272849.3_Silent_p.S236S|NRP2_ENST00000357118.4_Silent_p.S236S|NRP2_ENST00000540178.1_Silent_p.S236S|NRP2_ENST00000355117.4_Silent_p.S236S|NRP2_ENST00000357785.5_Silent_p.S236S|NRP2_ENST00000412873.2_Silent_p.S236S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	236	CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AAACACCCTCTGAACTTCGTT	0.512000													11	13					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197525	132197525	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:132197525G>T	ENST00000378673.2	-	3	1987	c.1121C>A	c.(1120-1122)cCg>cAg	p.P374Q	GDF9_ENST00000296875.2_Missense_Mutation_p.P374Q			O60383	GDF9_HUMAN	growth differentiation factor 9	374					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTACCTGTGCGGAGCCACAAT	0.468000													23	30					9.95505e-16	1.14907e-15	1	1	0
FKBP9	11328	broad.mit.edu	37	7	33014899	33014899	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:33014899G>T	ENST00000242209.4	+	3	642	c.473G>T	c.(472-474)aGt>aTt	p.S158I	FKBP9_ENST00000538336.1_Missense_Mutation_p.S211I|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.S20I	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	158					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AAGCCCCCGAGTTGCCCTCGG	0.483000													18	53					1.33834e-09	1.50087e-09	1	1	0
SELP	6403	broad.mit.edu	37	1	169572312	169572312	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:169572312C>T	ENST00000263686.6	-	10	1694	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N	SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.D491N|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.D491N|SELP_ENST00000367791.2_Missense_Mutation_p.D429N|SELP_ENST00000367794.2_Missense_Mutation_p.D491N|SELP_ENST00000367788.2_Missense_Mutation_p.D491N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	553	Sushi 6.				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)	CGAGTACAATCCAATCTTTCT	0.443000													31	57					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3649148	3649148	+	Silent	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:3649148T>A	ENST00000263087.4	-	18	2327	c.2229A>T	c.(2227-2229)tcA>tcT	p.S743S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	743					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCTTACGTCTGAACACTGCA	0.592000													25	49					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25470112	25470112	+	Translation_Start_Site	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:25470112A>T	ENST00000330688.4	+	0	311				RARB_ENST00000404969.1_Intron|RARB_ENST00000437042.2_Intron	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta						embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCAACAGCCTACGTGCCAAAA	0.448000													11	43					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959281	25959281	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:25959281C>T	ENST00000356865.6	-	10	1995	c.1884G>A	c.(1882-1884)ctG>ctA	p.L628L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	628					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTTGGCGGCCAGGCTCCCGA	0.632000													17	21					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43255097	43255097	+	Splice_Site	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr20:43255097T>A	ENST00000372874.4	-	4	496	c.362A>T	c.(361-363)gAa>gTa	p.E121V	ADA_ENST00000537820.1_Splice_Site_p.E121V|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	121					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CATCACTCACTCAGCCTGGTT	0.607000									Adenosine Deaminase Deficiency				12	48					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16331677	16331677	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:16331677T>C	ENST00000338560.7	+	9	1796	c.1397T>C	c.(1396-1398)aTa>aCa	p.I466T	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.I36T|AC093484.4_ENST00000441875.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	466				FI -> YT (in Ref. 2; AAD41724).	sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTCGTTCATAGACAGCTAC	0.567000											OREG0024202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	47					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13975504	13975504	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:13975504G>A	ENST00000343495.5	-	7	1067	c.329C>T	c.(328-330)cCa>cTa	p.P110L	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Missense_Mutation_p.P128L|ETV1_ENST00000430479.1_Missense_Mutation_p.P128L|ETV1_ENST00000403685.1_Missense_Mutation_p.P110L|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405358.4_Missense_Mutation_p.P142L|ETV1_ENST00000420159.2_Missense_Mutation_p.P70L|ETV1_ENST00000242066.5_Missense_Mutation_p.P110L|ETV1_ENST00000405218.2_Missense_Mutation_p.P128L|ETV1_ENST00000403527.1_Missense_Mutation_p.P88L			P50549	ETV1_HUMAN	ets variant 1	128					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCCACTTGTGGCTTCTGATC	0.463000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								28	28					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174848	63174848	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:63174848A>G	ENST00000322893.7	-	11	2613	c.2345T>C	c.(2344-2346)aTg>aCg	p.M782T	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	782					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)		CTTGAGTTCCATGGCATCACG	0.488000													20	83					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115589295	115589295	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:115589295A>G	ENST00000310836.6	+	5	1619	c.1097A>G	c.(1096-1098)gAa>gGa	p.E366G	UGT8_ENST00000394511.3_Missense_Mutation_p.E366G	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	366					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGTATTTTTGAAACTATATAT	0.378000													56	122					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21657295	21657295	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:21657295G>A	ENST00000328843.6	+	23	4200	c.4169G>A	c.(4168-4170)gGc>gAc	p.G1390D	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1385D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1390	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCCTGGAAGGCACAGTTAAG	0.512000									Kartagener syndrome				4	25					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35253090	35253090	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:35253090C>T	ENST00000360310.1	-	15	2442	c.1875G>A	c.(1873-1875)ctG>ctA	p.L625L	BAZ1A_ENST00000382422.2_Silent_p.L625L|BAZ1A_ENST00000358716.4_Silent_p.L593L	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	625					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAACTAGGGTCAGTAGCTTTC	0.358000													12	41					0	0	1	0	0
C13orf35	400165	broad.mit.edu	37	13	113333783	113333783	+	Silent	SNP	C	C	G	rs150373081		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr13:113333783C>G	ENST00000356049.1	+	2	848	c.90C>G	c.(88-90)gcC>gcG	p.A30A		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	30										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GTGCCTGGGCCTCTTCCCTGA	0.602000													9	27					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499758	75499758	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:75499758C>T	ENST00000360639.2	+	2	1689	c.1369C>T	c.(1369-1371)Cac>Tac	p.H457Y	C15orf39_ENST00000394987.4_Missense_Mutation_p.H457Y|C15orf39_ENST00000567617.1_Missense_Mutation_p.H457Y			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	457										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCTCAGTGAGCACTCTGGGCC	0.647000													6	25					0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398204	38398204	+	RNA	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:38398204G>C	ENST00000390346.2	-	0	445																											GGGTGTATGAGTATAATACTT	0.493000													22	98					0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134126451	134126451	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:134126451G>C	ENST00000281182.4	+	2	225	c.119G>C	c.(118-120)gGa>gCa	p.G40A	ACAD8_ENST00000537423.1_Intron|ACAD8_ENST00000543332.1_5'UTR|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	40					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GCTTCCATGGGACTTAATGAA	0.478000													10	33					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411507	43411507	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr21:43411507C>G	ENST00000310826.5	-	3	2881	c.2698G>C	c.(2698-2700)Gcg>Ccg	p.A900P	ZBTB21_ENST00000398511.3_Missense_Mutation_p.A900P|ZBTB21_ENST00000398505.3_Missense_Mutation_p.A699P|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A900P	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CTAGGACCCGCTTCTTTGGGG	0.562000													11	70					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679596	104679596	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:104679596C>T	ENST00000369878.4	+	1	1547	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	CNNM2_ENST00000369875.3_Silent_p.L453L|CNNM2_ENST00000433628.2_Silent_p.L453L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGACCCCACTCCGGGACTGCT	0.577000													13	22					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15332510	15332510	+	Silent	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:15332510A>G	ENST00000537676.1	-	1	171	c.99T>C	c.(97-99)atT>atC	p.I33I	ASB11_ENST00000344384.4_Silent_p.I33I|ASB11_ENST00000480796.1_Intron|ASB11_ENST00000380470.3_Intron			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	0					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					ATGTGTGACAAATATAATCCC	0.333000													25	111					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	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.Q76Q(4)		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)		agcaacagcagcagcagcagc	0.572000													8	27					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26512836	26512836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:26512836C>T	ENST00000376261.3	+	5	1044	c.541C>T	c.(541-543)Caa>Taa	p.Q181*	GAD2_ENST00000376248.1_Nonsense_Mutation_p.Q67*|GAD2_ENST00000259271.3_Nonsense_Mutation_p.Q181*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	181	Substrate binding.				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATACTTCAATCAACTTTCTAC	0.368000													12	46					0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129269651	129269651	+	Splice_Site	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:129269651A>G	ENST00000324382.2	+	4	811	c.806A>G	c.(805-807)aAg>aGg	p.K269R	H1FOO_ENST00000503977.1_Splice_Site_p.K130R	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	269					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						ACGGCCAGCAAGGTAGGTGCC	0.552000													5	14					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155567710	155567710	+	Missense_Mutation	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:155567710T>G	ENST00000401878.3	+	18	3686	c.3488T>G	c.(3487-3489)aTa>aGa	p.I1163R	RBM33_ENST00000341148.3_Missense_Mutation_p.I99R	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1163	RRM.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TTGTCCCACATAAATGTGGCC	0.483000													15	41					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150261	92150261	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:92150261C>G	ENST00000256343.3	-	11	1047	c.891G>C	c.(889-891)tgG>tgC	p.W297C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	297					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTTCATTATACCACAGTTTTC	0.269000													13	84					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23640966	23640966	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:23640966C>T	ENST00000261584.4	-	5	2661	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	837					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTACCTGTTCGACGGAATGT	0.448000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					7	31					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380265	78380265	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:78380265C>G	ENST00000278550.7	-	32	7587	c.7125G>C	c.(7123-7125)ttG>ttC	p.L2375F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCTTGATCATCAAACCTGTTC	0.473000													20	46					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91517839	91517839	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:91517839C>G	ENST00000361188.5	-	10	2537	c.1326G>C	c.(1324-1326)gaG>gaC	p.E442D	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E442D|PRC1_ENST00000394249.3_Missense_Mutation_p.E442D|PRC1_ENST00000442656.2_Missense_Mutation_p.E401D			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	442	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTCTCTCTTTCTCCAATCGAT	0.453000													42	98					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685668	125685668	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:125685668A>T	ENST00000371126.1	-	1	1166	c.924T>A	c.(922-924)gaT>gaA	p.D308E		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	308										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGCACACATTATCCCGGAAGT	0.582000													16	37					0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15342650	15342650	+	Missense_Mutation	SNP	T	T	C	rs142332224	byFrequency	TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:15342650T>C	ENST00000221730.3	-	2	486	c.266A>G	c.(265-267)tAt>tGt	p.Y89C	EPHX3_ENST00000602233.1_Missense_Mutation_p.Y89C|EPHX3_ENST00000435261.1_Missense_Mutation_p.Y89C	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	89						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGCCGAGACATAGTGCAGACG	0.662000													4	34					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84644381	84644381	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:84644381G>A	ENST00000284136.6	-	14	1740	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	566	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTACCTTTTAGAAGTAGGAGC	0.413000													15	48					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132445452	132445452	+	Splice_Site	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:132445452C>A	ENST00000370828.3	-	4	1236		c.e4-1		GPC4_ENST00000535467.1_Splice_Site	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4						anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TGGGGTTTACCTAATGTGTGA	0.468000													19	46					2.35188e-11	2.67203e-11	1	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70594549	70594549	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:70594549A>T	ENST00000260126.4	-	7	2358	c.1652T>A	c.(1651-1653)cTg>cAg	p.L551Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L551Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L496Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1		Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCTTCCTGTCAGATTCCTATG	0.418000													16	70					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833701	67833701	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:67833701G>A	ENST00000262345.1	+	10	2092	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	IL12RB2_ENST00000544434.1_Silent_p.L484L|IL12RB2_ENST00000541374.1_Silent_p.L484L|IL12RB2_ENST00000371000.1_Silent_p.L484L	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	484	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGTCTGCTCTGATTTCAGGTA	0.493000													9	40					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471047	8471047	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:8471047C>T	ENST00000381196.4	-	28	3995	c.3452G>A	c.(3451-3453)cGc>cAc	p.R1151H	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1151H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R730H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R737H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1138H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1129H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R740H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R740H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R737H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R730H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1151H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1151					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1151H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAATTTCCCGCGAGATTTCTT	0.373000										TSP Lung(15;0.13)			16	46					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16876880	16876880	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:16876880G>T	ENST00000380087.2	-	4	760	c.400C>A	c.(400-402)Cag>Aag	p.Q134K	RBBP7_ENST00000380084.4_Missense_Mutation_p.Q178K|RBBP7_ENST00000404022.1_Missense_Mutation_p.Q125K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	134					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TGAGGATTCTGCGGCATGTAA	0.368000													38	148					1.49673e-21	1.77968e-21	1	1	0
MAGEB10	139422	broad.mit.edu	37	X	27840024	27840024	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:27840024A>G	ENST00000356790.2	+	3	846	c.601A>G	c.(601-603)Act>Gct	p.T201A		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	201	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CGTGCCCAAGACTGGCCTGCT	0.463000													20	63					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043075	34043075	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:34043075G>A	ENST00000382065.3	-	1	862	c.156C>T	c.(154-156)tcC>tcT	p.S52S	C1QTNF3_ENST00000231338.7_Intron|RP11-1084J3.4_ENST00000382079.3_Intron	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0	Collagen-like.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCTCCCTCCTGGAGCCGCTAC	0.498000													45	131					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91099412	91099412	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:91099412G>A	ENST00000371818.4	+	2	1180	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	IFIT3_ENST00000371811.4_Missense_Mutation_p.D334N|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	334					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TGCATACTCCGATCTCGCTGA	0.428000													23	56					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11783735	11783735	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:11783735G>A	ENST00000337339.2	+	9	1085	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	MSL3_ENST00000361672.2_Missense_Mutation_p.R204H|MSL3_ENST00000398527.2_Missense_Mutation_p.R341H|MSL3_ENST00000380693.3_Missense_Mutation_p.R187H|MSL3_ENST00000312196.4_Missense_Mutation_p.R353H	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	353					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						CGGTCCACGCGCCACAGTGCC	0.622000													39	67					0	0	1	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													6	168					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817487	26817487	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:26817487C>G	ENST00000444914.3	+	3	814	c.394C>G	c.(394-396)Ctt>Gtt	p.L132V	SLC13A2_ENST00000314669.5_Missense_Mutation_p.L83V|SLC13A2_ENST00000537681.1_Missense_Mutation_p.L12V|SLC13A2_ENST00000545060.1_Missense_Mutation_p.L40V	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	83						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CGTCGAGTATCTTAAGGACTC	0.612000													28	140					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109670585	109670585	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:109670585C>T	ENST00000338432.7	+	29	4232	c.4113C>T	c.(4111-4113)gcC>gcT	p.A1371A	ACACB_ENST00000377848.3_Silent_p.A1371A|ACACB_ENST00000377854.5_Silent_p.A1301A|ACACB_ENST00000543201.1_Silent_p.A37A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1371					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCATGGTAGCCTTCAGGAGAT	0.607000													10	41					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	434672	434672	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:434672G>C	ENST00000316418.5	+	12	1927	c.1883G>C	c.(1882-1884)aGg>aCg	p.R628T	AHRR_ENST00000506456.1_Missense_Mutation_p.R466T|AHRR_ENST00000505113.1_Missense_Mutation_p.R610T|AHRR_ENST00000512529.1_Missense_Mutation_p.R456T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	610	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGCGCAGCAGGGAGCTGACC	0.682000													3	8					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95063854	95063854	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:95063854C>G	ENST00000545558.1	-	13	3646	c.3154G>C	c.(3154-3156)Gac>Cac	p.D1052H	NOL8_ENST00000442668.2_Missense_Mutation_p.D1052H|NOL8_ENST00000358855.4_Missense_Mutation_p.D984H|NOL8_ENST00000535387.1_Missense_Mutation_p.D1014H|NOL8_ENST00000542053.1_Missense_Mutation_p.D984H			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1052					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTTAGTGTCTGAATCAAAA	0.398000													5	13					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924313	44924313	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:44924313C>T	ENST00000395699.2	-	1	647	c.635G>A	c.(634-636)gGg>gAg	p.G212E		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	212	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CAggccgccccctgggccccc	0.667000													20	49					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117568229	117568229	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:117568229G>A	ENST00000256652.4	+	8	2585	c.2527G>A	c.(2527-2529)Gcc>Acc	p.A843T	CD101_ENST00000369470.1_Missense_Mutation_p.A843T|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	843	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.A843T(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGCAGCTCAGCCACTCTGTA	0.502000													10	54					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86249213	86249213	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:86249213C>G	ENST00000370571.2	-	51	4616	c.4250G>C	c.(4249-4251)gGg>gCg	p.G1417A	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1417A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1417					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCTGATATCCCAACAATGCC	0.373000													28	71					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532647	84532647	+	RNA	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:84532647C>T	ENST00000527857.1	+	0	2669					NR_026851.1																						ACATCAAAATCTGGTAGCATT	0.438000													13	14					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395169	109395169	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:109395169C>T	ENST00000370001.3	-	2	386	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	AKNAD1_ENST00000369994.1_Missense_Mutation_p.G40S|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.G40S	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	40								p.G40C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ACTTCAAGGCCATCCTTTTTT	0.403000													13	91					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47587923	47587923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:47587923C>T	ENST00000172229.3	+	4	843	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Nonsense_Mutation_p.Q146*	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	240	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GGGCAGCTCCCAGCCCGTGGT	0.617000													18	78					0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80203720	80203720	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:80203720C>A	ENST00000450142.2	-	10	1576	c.1310G>T	c.(1309-1311)aGg>aTg	p.R437M	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R350M|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R437M|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R437M|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R437M	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	437						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AAGTCCTAACCTCCAAGTTGC	0.393000													12	13					2.80697e-09	3.10772e-09	1	1	0
CDH26	60437	broad.mit.edu	37	20	58562663	58562663	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr20:58562663G>C	ENST00000348616.4	+	8	1293	c.993G>C	c.(991-993)gaG>gaC	p.E331D	CDH26_ENST00000244047.5_Missense_Mutation_p.E331D	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	331	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)			CTGACCCTGAGACCAACGAAG	0.438000													21	89					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107846960	107846960	+	Silent	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:107846960A>G	ENST00000285311.3	-	2	1074	c.369T>C	c.(367-369)aaT>aaC	p.N123N	DKK2_ENST00000510463.1_Silent_p.N77N|DKK2_ENST00000513208.1_Silent_p.N23N	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	123	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTTTACCATTATTGCAGCGGG	0.507000													25	98					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154124391	154124391	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:154124391C>A	ENST00000360256.4	-	22	6590	c.6390G>T	c.(6388-6390)aaG>aaT	p.K2130N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2130	F5/8 type C 1.				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)	AAGTCTGCCACTTCTTCCCAT	0.403000													53	92					1.35996e-42	1.65329e-42	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77671968	77671968	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr13:77671968T>C	ENST00000407578.2	-	56	9587	c.9321A>G	c.(9319-9321)ccA>ccG	p.P3107P	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.P3069P|MYCBP2_ENST00000544440.2_Silent_p.P3069P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGATATATCTGGTCCATGGG	0.373000													27	61					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161309624	161309624	+	Missense_Mutation	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:161309624T>G	ENST00000428797.2	+	8	975	c.620T>G	c.(619-621)gTt>gGt	p.V207G	GABRA1_ENST00000420560.1_Missense_Mutation_p.V207G|GABRA1_ENST00000444819.1_Missense_Mutation_p.V207G|GABRA1_ENST00000437025.2_Missense_Mutation_p.V207G|GABRA1_ENST00000393943.4_Missense_Mutation_p.V207G|GABRA1_ENST00000023897.6_Missense_Mutation_p.V207G	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	207					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CGCTCAGTGGTTGTAGCAGAA	0.398000													11	16					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032868	108032868	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:108032868G>A	ENST00000278612.8	-	16	3155	c.3050C>T	c.(3049-3051)tCa>tTa	p.S1017L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1017					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACATCCAACTGAATGACCTGA	0.318000													57	28					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100061959	100061959	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:100061959A>G	ENST00000369215.4	+	4	1753	c.1448A>G	c.(1447-1449)aAa>aGa	p.K483R		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TACCCGCTCAAATTGCACTTC	0.657000													7	18					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41416283	41416283	+	Splice_Site	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:41416283A>G	ENST00000318588.9	-	19	1852		c.e19+1		CASK_ENST00000472704.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Splice_Site|CASK_ENST00000378166.4_Splice_Site|CASK_ENST00000378163.1_Splice_Site|CASK_ENST00000378158.1_Splice_Site|CASK_ENST00000421587.2_Intron			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)						cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TAAAGTTCTTACCGAAACAGA	0.428000													12	61					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21869102	21869102	+	Missense_Mutation	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:21869102T>A	ENST00000399982.2	-	21	4366	c.4302A>T	c.(4300-4302)agA>agT	p.R1434S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.R1434S|CHD8_ENST00000430710.3_Missense_Mutation_p.R1155S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1434					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACGGTCATGTCTGCGGGAGC	0.502000													14	29					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175899081	175899081	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:175899081C>T	ENST00000359240.3	+	5	3075	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.S802F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S802F|ADAM29_ENST00000514159.1_Missense_Mutation_p.S802F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	802	9 X 9 AA approximate repeats.				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)		GTGACACCCTCCCAGAGGCAA	0.567000													48	177					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102247604	102247604	+	Missense_Mutation	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:102247604T>A	ENST00000369138.1	+	7	1523	c.1033T>A	c.(1033-1035)Ttg>Atg	p.L345M	GRIK2_ENST00000369134.4_Missense_Mutation_p.L296M|GRIK2_ENST00000318991.6_Missense_Mutation_p.L345M|GRIK2_ENST00000421544.1_Missense_Mutation_p.L345M|GRIK2_ENST00000369137.3_Missense_Mutation_p.L345M|GRIK2_ENST00000413795.1_Missense_Mutation_p.L345M	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	345					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGTCAGTTCCTTGCAGTGTAA	0.463000													20	40					0	0	1	0	0
SOCS3	9021	broad.mit.edu	37	17	76354643	76354643	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:76354643C>T	ENST00000330871.2	-	2	949	c.534G>A	c.(532-534)ttG>ttA	p.L178L		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	178	SOCS box.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GGGGCCGGCTCAACACCAGGG	0.637000													23	72					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27202918	27202918	+	Silent	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:27202918T>C	ENST00000380036.4	+	13	2452	c.2010T>C	c.(2008-2010)atT>atC	p.I670I	TEK_ENST00000519097.1_Silent_p.I523I|TEK_ENST00000406359.4_Silent_p.I627I	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	670	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTTCTTCTATTACTATCCGTT	0.413000													24	45					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36594302	36594302	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:36594302A>G	ENST00000401500.2	+	30	3607	c.3572A>G	c.(3571-3573)gAc>gGc	p.D1191G	WDR62_ENST00000270301.7_Missense_Mutation_p.D1186G	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1186					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGCCCACAGACAGGAATCTC	0.627000													8	49					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802497	237802497	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:237802497A>G	ENST00000366574.2	+	46	7428	c.7111A>G	c.(7111-7113)Aca>Gca	p.T2371A	RYR2_ENST00000542537.1_Missense_Mutation_p.T2355A|RYR2_ENST00000360064.6_Missense_Mutation_p.T2369A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2371	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCCAGTAAAACACTGTAGGT	0.408000													7	15					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18188763	18188763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:18188763T>A	ENST00000321105.5	-	14	1883	c.1669A>T	c.(1669-1671)Aag>Tag	p.K557*	TOP3A_ENST00000542570.1_Nonsense_Mutation_p.K462*|TOP3A_ENST00000540524.1_Nonsense_Mutation_p.K87*	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	557					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGGAACCGCTTGTCTGGGGTG	0.607000													14	17					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135642	51135642	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:51135642C>T	ENST00000338916.4	-	2	1208	c.575G>A	c.(574-576)gGg>gAg	p.G192E	SYT3_ENST00000593901.1_Missense_Mutation_p.G192E|SYT3_ENST00000544769.1_Missense_Mutation_p.G192E|SYT3_ENST00000600079.1_Missense_Mutation_p.G192E	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	192						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)		GCCTGCTCCCCCCTCAGAGGG	0.647000													8	38					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61325746	61325746	+	Splice_Site	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr18:61325746C>T	ENST00000283752.5	-	5	613		c.e5+1		SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Splice_Site	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3						regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGCTCTCCTACCATTCGTTTG	0.448000													12	22					0	0	1	0	0
GPKOW	27238	broad.mit.edu	37	X	48976104	48976104	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:48976104C>T	ENST00000156109.5	-	4	598	c.520G>A	c.(520-522)Ggc>Agc	p.G174S		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	174	G-patch.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CAGCCCATGCCCCGCAGCATG	0.597000													12	8					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695570	45695570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:45695570C>T	ENST00000305560.6	+	1	1042	c.943C>T	c.(943-945)Cga>Tga	p.R315*	SPATA5L1_ENST00000559860.1_Nonsense_Mutation_p.R315*	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	315						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCGGGGCAGTCGAGCACCCGA	0.711000													10	6					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56094295	56094295	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:56094295C>A	ENST00000394555.2	-	11	1830	c.1395G>T	c.(1393-1395)ctG>ctT	p.L465L	EFEMP1_ENST00000355426.3_Silent_p.L465L|EFEMP1_ENST00000394554.1_Silent_p.L465L|EFEMP1_ENST00000424836.2_Silent_p.L327L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	465	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCAGCATCTCCAGGTCCACGA	0.408000													23	91					5.35356e-11	6.05064e-11	1	1	0
SOS1	6654	broad.mit.edu	37	2	39249777	39249777	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:39249777T>C	ENST00000426016.1	-	11	1878	c.1792A>G	c.(1792-1794)Att>Gtt	p.I598V	SOS1_ENST00000395038.2_Missense_Mutation_p.I598V|SOS1_ENST00000402219.2_Missense_Mutation_p.I598V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	598	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATAATTGGAATTCCAGCCTTG	0.403000									Noonan syndrome				21	60					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114179276	114179276	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:114179276A>G	ENST00000357077.4	+	12	1312	c.1259A>G	c.(1258-1260)tAt>tGt	p.Y420C	ANK2_ENST00000394537.3_Missense_Mutation_p.Y420C|ANK2_ENST00000264366.6_Missense_Mutation_p.Y420C|ANK2_ENST00000506722.1_Missense_Mutation_p.Y399C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	420					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGGTGAAATATGGGGCTTCA	0.398000													15	140					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183267866	183267866	+	Missense_Mutation	SNP	T	T	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:183267866T>G	ENST00000511685.1	+	3	418	c.295T>G	c.(295-297)Ttt>Gtt	p.F99V	TENM3_ENST00000406950.2_Missense_Mutation_p.F99V					teneurin transmembrane protein 3																		AGGACTGGCATTTTGTGCGGA	0.453000													4	24					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450711	85450711	+	Nonsense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:85450711A>T	ENST00000393217.2	+	8	2201	c.2140A>T	c.(2140-2142)Aaa>Taa	p.K714*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	714										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TATTTCAGAAAAATGCCATGA	0.383000													75	251					0	0	1	0	0
SIKE1	80143	broad.mit.edu	37	1	115319072	115319072	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:115319072C>G	ENST00000369528.5	-	4	506	c.429G>C	c.(427-429)gaG>gaC	p.E143D	SIKE1_ENST00000060969.5_Missense_Mutation_p.E139D|SIKE1_ENST00000506320.1_5'UTR	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	139						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAATCTGACTCTCAATTTCCT	0.358000													11	54					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178981042	178981042	+	Silent	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:178981042A>G	ENST00000286070.5	+	2	446	c.354A>G	c.(352-354)gaA>gaG	p.E118E		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	118					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.E118E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TTGAAGATGAAGAACTTACAA	0.338000													30	40					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18220286	18220286	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:18220286C>A	ENST00000406438.3	+	1	1663	c.1183C>A	c.(1183-1185)Caa>Aaa	p.Q395K		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	395										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TAAGCCCAGTCAAGACAGGCC	0.423000													17	30					0.0332995	0.0336876	1	1	0
MYEF2	50804	broad.mit.edu	37	15	48460843	48460843	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:48460843G>T	ENST00000324324.7	-	2	634	c.355C>A	c.(355-357)Cta>Ata	p.L119I	MYEF2_ENST00000267836.6_Missense_Mutation_p.L119I	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	119	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCTCTCATTAGATCTTTAATA	0.393000													20	47					1.15919e-05	1.23913e-05	1	1	0
RRH	10692	broad.mit.edu	37	4	110763785	110763785	+	Missense_Mutation	SNP	A	A	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:110763785A>C	ENST00000317735.4	+	6	915	c.881A>C	c.(880-882)tAt>tCt	p.Y294S		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	294					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCCTGCATTTATGTGGTTGCT	0.368000													32	115					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61838273	61838273	+	Splice_Site	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:61838273C>G	ENST00000225726.5	-	6	1118		c.e6+1		CCDC47_ENST00000582252.1_Splice_Site|CCDC47_ENST00000403162.3_Splice_Site	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47							integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGAATACATACCACTTGATCA	0.378000													12	48					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256823	63256823	+	Missense_Mutation	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:63256823G>T	ENST00000323865.3	-	1	957	c.724C>A	c.(724-726)Cat>Aat	p.H242N	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	242					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GATGCTCCATGGCGGGTGTCC	0.627000													23	26					2.32416e-17	2.70425e-17	1	1	0
POT1	25913	broad.mit.edu	37	7	124503532	124503532	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:124503532C>T	ENST00000357628.3	-	8	1016	c.418G>A	c.(418-420)Gca>Aca	p.A140T	POT1_ENST00000393329.1_Missense_Mutation_p.A9T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	140					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGAGTAGATGCCCAAACACGT	0.438000													25	75					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637541	46637541	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:46637541C>A	ENST00000326737.3	-	2	494	c.247G>T	c.(247-249)Ggt>Tgt	p.G83C		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	83						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TGGAAGGAACCTGAGGTATAA	0.527000													22	23					2.70639e-06	2.90736e-06	1	1	0
PEG3	5178	broad.mit.edu	37	19	57326731	57326731	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:57326731C>G	ENST00000326441.9	-	10	3442	c.3079G>C	c.(3079-3081)Gag>Cag	p.E1027Q	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1027Q|PEG3_ENST00000593695.1_Missense_Mutation_p.E901Q|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E903Q|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1027					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCGCTTGCTCTTTAGCATAC	0.468000													10	60					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175346	51175346	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:51175346C>A	ENST00000440970.1	-	2	927	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D263Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	263					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTTGGCAAGTCTGCATTCTGA	0.488000													22	31					2.32416e-17	2.70425e-17	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141050085	141050085	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr5:141050085G>A	ENST00000239440.4	-	14	2166	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R363W|ARAP3_ENST00000508305.1_Missense_Mutation_p.R603W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	701					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCACCATCCCGGCCCCTGCGA	0.602000													17	33					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5399961	5399961	+	Silent	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:5399961G>T	ENST00000282908.5	+	5	884	c.462G>T	c.(460-462)ctG>ctT	p.L154L	STK32B_ENST00000512636.1_Silent_p.L107L|STK32B_ENST00000510398.1_Silent_p.L107L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	154	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ATATCCTGCTGGATGAACACG	0.493000													26	151					1.7881e-09	2.00009e-09	1	1	0
BDKRB2	624	broad.mit.edu	37	14	96707244	96707244	+	Silent	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:96707244G>A	ENST00000542454.2	+	3	3586	c.498G>A	c.(496-498)ctG>ctA	p.L166L	BDKRB2_ENST00000306005.3_Silent_p.L193L|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.L166L|BDKRB2_ENST00000554311.1_Silent_p.L193L			P30411	BKRB2_HUMAN	bradykinin receptor B2	193					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	p.V194L(1)|p.L193L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CACCCATGCTGGTGTTCCGGA	0.587000													13	67					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189932969	189932969	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:189932969C>A	ENST00000374866.3	-	20	1559	c.1285G>T	c.(1285-1287)Ggt>Tgt	p.G429C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	429					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTTTGGCACCAGGAGTACCA	0.403000													30	51					4.3181e-19	5.09254e-19	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41337449	41337449	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:41337449A>T	ENST00000551295.2	+	13	1547	c.1430A>T	c.(1429-1431)aAt>aTt	p.N477I	CNTN1_ENST00000547702.1_Missense_Mutation_p.N477I|CNTN1_ENST00000360099.3_Missense_Mutation_p.N477I|CNTN1_ENST00000347616.1_Missense_Mutation_p.N477I|CNTN1_ENST00000348761.2_Missense_Mutation_p.N466I|CNTN1_ENST00000547849.1_Missense_Mutation_p.N477I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	477	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)				ATTACAAGGAATGATGGAGGT	0.338000													16	64					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52942979	52942979	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:52942979C>T	ENST00000295213.4	+	7	1167	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	SPATA18_ENST00000419395.2_Missense_Mutation_p.R233C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	265	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CCCTGCCCCTCGCAGCCGTAG	0.592000													3	59					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39868597	39868597	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:39868597C>T	ENST00000303538.8	-	23	3065	c.2526G>A	c.(2524-2526)ctG>ctA	p.L842L		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	842					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GCCACCTTACCAGAAGTTTAA	0.338000													6	43					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74318173	74318173	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:74318173C>T	ENST00000395792.2	+	12	1584	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L	AFP_ENST00000226359.2_Missense_Mutation_p.P495L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	495	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAGTAAACCCTGGTGTTGGC	0.448000									Alpha-Fetoprotein, Hereditary Persistence of				37	102					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130305459	130305459	+	Silent	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:130305459C>A	ENST00000358511.6	+	10	4111	c.4080C>A	c.(4078-4080)ctC>ctA	p.L1360L	COL6A6_ENST00000453409.2_Silent_p.L1360L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1360	Nonhelical region.|VWFA 7.				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						GGACACAGCTCTCTATTGGCA	0.413000													20	60					2.94398e-08	3.20223e-08	1	1	0
USP49	25862	broad.mit.edu	37	6	41767574	41767574	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:41767574C>A	ENST00000394253.3	-	5	1993	c.1664G>T	c.(1663-1665)aGa>aTa	p.R555I	USP49_ENST00000297229.2_Missense_Mutation_p.R555I|USP49_ENST00000373006.1_Missense_Mutation_p.R555I|USP49_ENST00000373010.1_Missense_Mutation_p.R555I|USP49_ENST00000373009.3_Missense_Mutation_p.R555I			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	555					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCACCTGAATCTTTTAAGGTG	0.493000													32	72					8.88839e-20	1.05111e-19	1	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4448465	4448465	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:4448465C>A	ENST00000254718.4	-	17	2472	c.2166G>T	c.(2164-2166)aaG>aaT	p.K722N	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.K722N			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	722	Glu-rich.				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTTCCTCGCTCTTGTCCTGTG	0.657000													6	11					0.00116845	0.00121317	1	1	0
TRPC3	7222	broad.mit.edu	37	4	122801035	122801035	+	Splice_Site	SNP	T	T	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:122801035T>A	ENST00000264811.5	-	11	2823		c.e11-2		TRPC3_ENST00000379645.3_Splice_Site|TRPC3_ENST00000513531.1_Splice_Site	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3						axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTAATTCACCTATAGTATTGA	0.308000													13	91					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123222535	123222535	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:123222535C>G	ENST00000264501.4	+	55	9842	c.9469C>G	c.(9469-9471)Cta>Gta	p.L3157V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L3157V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3157V			Q2LD37	K1109_HUMAN	KIAA1109	3157					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCTCTATTCCCTAAACTTGCA	0.323000													7	61					0	0	1	0	0
GTF2A1	2957	broad.mit.edu	37	14	81658906	81658906	+	Missense_Mutation	SNP	T	T	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:81658906T>C	ENST00000553612.1	-	7	1293	c.890A>G	c.(889-891)gAa>gGa	p.E297G	GTF2A1_ENST00000434192.2_Missense_Mutation_p.E258G	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	297					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ctctttgtcttcctcctcatc	0.368000													33	82					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70896062	70896062	+	Missense_Mutation	SNP	C	C	T	rs139166171	byFrequency	TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:70896062C>T	ENST00000411986.2	+	6	811	c.613C>T	c.(613-615)Cgt>Tgt	p.R205C	CTH_ENST00000464926.1_3'UTR|CTH_ENST00000370938.3_Missense_Mutation_p.R237C|CTH_ENST00000346806.2_Missense_Mutation_p.R193C	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	237					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TAATAGACTTCGTTTCTTGCA	0.348000													14	34					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67031829	67031829	+	Missense_Mutation	SNP	G	G	A	rs141266533		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:67031829G>A	ENST00000340001.4	-	7	1125	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ABCA9_ENST00000370732.2_Missense_Mutation_p.T305I|ABCA9_ENST00000453985.2_Missense_Mutation_p.T305I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	305					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAGAAAGAGGGTGAAGACCAT	0.383000													7	61					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9016680	9016680	+	Missense_Mutation	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:9016680G>A	ENST00000397910.4	-	28	38260	c.38057C>T	c.(38056-38058)tCc>tTc	p.S12686F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12688					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						GGGGAGGGAGGATGGAGTCCC	0.478000													11	24					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049593	11049593	+	RNA	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr21:11049593G>T	ENST00000470054.1	-	0	515									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGGGCTGTCGCACACTGCAC	0.383000													12	161					1.15088e-07	1.24559e-07	1	1	0
GDF2	2658	broad.mit.edu	37	10	48414502	48414502	+	Silent	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:48414502G>C	ENST00000249598.1	-	2	525	c.366C>G	c.(364-366)gcC>gcG	p.A122A		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	122					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGTCCTCTGTGGCAGTTATGG	0.507000													5	26					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628264	187628264	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:187628264C>A	ENST00000441802.2	-	2	2927	c.2718G>T	c.(2716-2718)caG>caT	p.Q906H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	906	Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGAGAACAGCTGAGGCTCTT	0.483000										HNSCC(5;0.00058)			4	243					0.00909568	0.00933221	1	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50473721	50473721	+	RNA	SNP	G	G	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:50473721G>A	ENST00000602139.1	+	0	591									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CTCTCCCCTAGAAGAACCAGA	0.602000													4	19					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72755996	72755996	+	Missense_Mutation	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr8:72755996C>T	ENST00000325509.4	-	1	707	c.418G>A	c.(418-420)Gac>Aac	p.D140N	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	140	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			AGCTTAGTGTCGGGGGGCACC	0.652000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	41					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23917260	23917260	+	Silent	SNP	G	G	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr22:23917260G>T	ENST00000330377.2	-	2	333	c.216C>A	c.(214-216)ctC>ctA	p.L72L	IGLL1_ENST00000249053.3_Intron	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	72					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						AGCCGCGCTGGAGCAGGAACC	0.657000													11	23					2.80697e-09	3.10772e-09	1	1	0
UROC1	131669	broad.mit.edu	37	3	126202239	126202239	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:126202239C>T	ENST00000290868.2	-	19	1916	c.1863G>A	c.(1861-1863)ctG>ctA	p.L621L	UROC1_ENST00000383579.3_Silent_p.L681L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	621					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGCTGAGCATCAGCCTGGCTC	0.622000													6	17					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947252	237947252	+	Silent	SNP	C	C	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:237947252C>T	ENST00000366574.2	+	90	12557	c.12240C>T	c.(12238-12240)taC>taT	p.Y4080Y	RYR2_ENST00000542537.1_Silent_p.Y4064Y|RYR2_ENST00000360064.6_Silent_p.Y4086Y|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4080					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCTCGACTACGAAGAGTTCG	0.512000													4	14					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5333027	5333027	+	Missense_Mutation	SNP	A	A	T			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:5333027A>T	ENST00000282908.5	+	4	763	c.341A>T	c.(340-342)cAg>cTg	p.Q114L	STK32B_ENST00000512636.1_Missense_Mutation_p.Q67L|STK32B_ENST00000510398.1_Missense_Mutation_p.Q67L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	114	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CATCTGCAGCAGAATGTGCAT	0.542000													20	59					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134940773	134940773	+	Missense_Mutation	SNP	C	C	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:134940773C>G	ENST00000607359.1	+	15	2598	c.2598C>G	c.(2596-2598)atC>atG	p.I866M	GPR123_ENST00000392606.2_Missense_Mutation_p.I49M|GPR123_ENST00000392607.3_Missense_Mutation_p.I146M			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	146						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTTTATCATCTGTGGGGTCA	0.642000													3	12					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007781	130007781	+	Missense_Mutation	SNP	A	A	G			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:130007781A>G	ENST00000485477.1	+	11	2202	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C	CPA5_ENST00000466363.2_Missense_Mutation_p.Y358C|CPA5_ENST00000461828.1_Missense_Mutation_p.Y358C|CPA5_ENST00000355388.3_Missense_Mutation_p.Y358C|CPA5_ENST00000431780.2_Intron|CPA5_ENST00000474905.1_Missense_Mutation_p.Y358C|CPA5_ENST00000393213.3_Missense_Mutation_p.Y358C			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	358					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GAGGCCTTGTATAAGGTCCAT	0.602000													16	44					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951542	235951542	+	Missense_Mutation	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:235951542G>C	ENST00000409212.1	+	4	2636	c.2129G>C	c.(2128-2130)aGg>aCg	p.R710T	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R710T|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R710T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	710					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TACCAGGGCAGGGTGGGCCTC	0.687000													8	23					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152490339	152490339	+	Missense_Mutation	SNP	C	C	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:152490339C>A	ENST00000397345.3	-	65	9445	c.9243G>T	c.(9241-9243)aaG>aaT	p.K3081N	NEB_ENST00000172853.10_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.K3081N|NEB_ENST00000603639.1_Missense_Mutation_p.K3081N|NEB_ENST00000427231.2_Missense_Mutation_p.K3081N|NEB_ENST00000409198.1_Intron	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3081					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)		TGGTCTTCCACTTCTCAAAGT	0.512000													64	115					1.98135e-44	2.41547e-44	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40847786	40847786	+	Silent	SNP	G	G	C			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:40847786G>C	ENST00000264638.4	+	19	3457	c.3240G>C	c.(3238-3240)acG>acC	p.T1080T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1080					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACAACGTTACGGGAGAGGAGG	0.627000													11	26					0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	RNA	DEL	A	A	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:700514delA	ENST00000428504.1	-	0	1039					NR_033908.1																						actccatctcaaaaaaaaaaa	0.453													3	5	---	---	---	---					
TRIM45	80263	broad.mit.edu	37	1	117663809	117663810	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:117663809_117663810delTC	ENST00000256649.4	-	1	540_541	c.14_15delGA	c.(13-15)agafs	p.R5fs	TRIM45_ENST00000369461.3_Intron|TRIM45_ENST00000369464.3_Frame_Shift_Del_p.R5fs	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	5						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCAGCGGTTTTCTGTTTTCTGA	0.495													9	114	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182849729	182849729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:182849729delG	ENST00000367549.3	+	22	2720	c.2610delG	c.(2608-2610)atgfs	p.M870fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	870					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGATGATAATGGGGTGTATTT	0.408													18	40	---	---	---	---					
SMYD3	64754	broad.mit.edu	37	1	246021967	246021967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr1:246021967delC	ENST00000490107.1	-	10	946	c.730delG	c.(730-732)gagfs	p.E244fs	SMYD3_ENST00000541742.1_Frame_Shift_Del_p.E244fs|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Frame_Shift_Del_p.E303fs	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	303	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AGAACCTGCTCCCACTCTGTT	0.438													14	55	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73650043	73650043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr2:73650043delC	ENST00000264448.6	+	4	816	c.705delC	c.(703-705)gacfs	p.D235fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.D193fs|ALMS1_ENST00000377715.1_Frame_Shift_Del_p.D235fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	235					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGACACAAGACCAAGAATTTG	0.363													75	110	---	---	---	---					
DUSP7	1849	broad.mit.edu	37	3	52088365	52088366	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr3:52088365_52088366delCT	ENST00000495880.1	-	2	725_726	c.542_543delAG	c.(541-543)gagfs	p.E181fs	DUSP7_ENST00000296483.6_Frame_Shift_Del_p.E130fs			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	181	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTCAGAGTACTCTGTTTGAAA	0.614													9	16	---	---	---	---					
ABCA11P	79963	broad.mit.edu	37	4	419824	419825	+	RNA	DEL	TC	TC	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr4:419824_419825delTC	ENST00000451020.2	-	0	1213_1214					NR_002451.2																						AGCTTCAAAATCTCTGTGTGGA	0.416													13	30	---	---	---	---					
ZBTB12	221527	broad.mit.edu	37	6	31868953	31868956	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:31868953_31868956delACTT	ENST00000375527.2	-	2	302_305	c.127_130delAAGT	c.(127-132)aagtttfs	p.KF43fs	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TGGCCTCGAAACTTGAGGCTGTCG	0.637													10	25	---	---	---	---					
FUCA2	2519	broad.mit.edu	37	6	143823086	143823087	+	Frame_Shift_Del	DEL	AG	AG	-	rs139022968		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr6:143823086_143823087delAG	ENST00000002165.6	-	5	1191_1192	c.1136_1137delCT	c.(1135-1137)actfs	p.T379fs	FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|FUCA2_ENST00000367585.1_5'UTR	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTGGGGTGACAGTGTCATTCTG	0.391													21	39	---	---	---	---					
STEAP2	261729	broad.mit.edu	37	7	89861931	89861932	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:89861931_89861932insA	ENST00000287908.3	+	5	1859_1860	c.1466_1467insA	c.(1465-1470)gtaatgfs	p.M490fs	STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394622.2_Frame_Shift_Ins_p.M490fs|STEAP2_ENST00000394629.2_Intron|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394626.1_Intron|STEAP2_ENST00000394621.2_Frame_Shift_Ins_p.M490fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	490					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGGGTCACAGTAATGTGATGAC	0.396													8	36	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91632048	91632049	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr7:91632048_91632049delAG	ENST00000359028.2	+	9	3078_3079	c.2853_2854delAG	c.(2851-2856)acagaafs	p.E952fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E940fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E952fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	952	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)			AGGATACAACAGAACTCATGGA	0.371			T	BRAF	papillary thyroid								15	47	---	---	---	---					
ZDHHC21	340481	broad.mit.edu	37	9	14619086	14619086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:14619086delG	ENST00000380916.4	-	10	1142	c.676delC	c.(676-678)cgafs	p.R226fs		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21						nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		CATGGCTTTCGGGGCCTCGAT	0.488													18	29	---	---	---	---					
TAF1L	138474	broad.mit.edu	37	9	32634266	32634266	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:32634266delC	ENST00000242310.4	-	1	1401	c.1312delG	c.(1312-1314)gagfs	p.E438fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	438					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGATATCCTCCCCATCCCAG	0.468													51	111	---	---	---	---					
LOC403323	403323	broad.mit.edu	37	9	66517561	66517563	+	RNA	DEL	TGT	TGT	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:66517561_66517563delTGT	ENST00000590130.1	-	0	622_624																											CCTGAAGGGCTGTTGTTCTTAAA	0.463													7	79	---	---	---	---					
C9orf84	158401	broad.mit.edu	37	9	114480550	114480551	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr9:114480550_114480551delTC	ENST00000394779.3	-	12	2084_2085	c.1840_1841delGA	c.(1840-1842)gaafs	p.E614fs	C9orf84_ENST00000394777.4_Intron|C9orf84_ENST00000318737.4_Frame_Shift_Del_p.E653fs|C9orf84_ENST00000374287.3_Frame_Shift_Del_p.E653fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	653										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAAAGTCATTTCTCTTTCATCA	0.351													28	51	---	---	---	---					
RP11-525A16.4	0	broad.mit.edu	37	10	112211015	112211016	+	RNA	INS	-	-	C	rs7089104	by1000genomes	TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr10:112211015_112211016insC	ENST00000609514.1	-	0	69																											aaaaaaaaaaaaaaaaaaaaCC	0.406													7	53	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.230													4	5	---	---	---	---					
APAF1	317	broad.mit.edu	37	12	99109219	99109219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:99109219delA	ENST00000357310.1	+	21	3421	c.2844delA	c.(2842-2844)gtafs	p.V948fs	APAF1_ENST00000549007.1_Frame_Shift_Del_p.V948fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.V980fs|APAF1_ENST00000551964.1_Frame_Shift_Del_p.V991fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.V948fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Frame_Shift_Del_p.V948fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.V937fs|APAF1_ENST00000552268.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	991					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TAGAACTTGTAAACAATAGAA	0.343													30	38	---	---	---	---					
NAA25	80018	broad.mit.edu	37	12	112528553	112528554	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr12:112528553_112528554delAT	ENST00000261745.4	-	3	507_508	c.259_260delAT	c.(259-261)atcfs	p.I87fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	87						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCGGTAAAGGATAGTCAGTGCC	0.441													29	87	---	---	---	---					
CTAGE5	4253	broad.mit.edu	37	14	39790138	39790138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:39790138delC	ENST00000553728.1	+	23	3368	c.3155delC	c.(3154-3156)tccfs	p.S1052fs	CTAGE5_ENST00000396165.4_Frame_Shift_Del_p.S488fs|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000280083.3_Frame_Shift_Del_p.S517fs|CTAGE5_ENST00000553352.1_Frame_Shift_Del_p.S488fs|CTAGE5_ENST00000396158.2_Frame_Shift_Del_p.S522fs|CTAGE5_ENST00000557038.1_Frame_Shift_Del_p.S437fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Del_p.S488fs|CTAGE5_ENST00000341502.5_Frame_Shift_Del_p.S517fs|CTAGE5_ENST00000556148.1_Frame_Shift_Del_p.S442fs|CTAGE5_ENST00000341749.3_Frame_Shift_Del_p.S505fs																							CCAGAGCATTCCCCATATGGT	0.418													18	83	---	---	---	---					
TCL6	27004	broad.mit.edu	37	14	96135766	96135766	+	RNA	DEL	C	C	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr14:96135766delC	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cagggtttcaccgtgttagcc	0.473			T	TRA@	T-ALL								7	8	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25479394	25479394	+	RNA	DEL	G	G	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:25479394delG	ENST00000453082.2	+	0	1891				SNORD115-35_ENST00000365122.1_RNA	NR_003343.1																						GCCCTGGGTTGGGTCAATGAT	0.498													51	144	---	---	---	---					
CILP	8483	broad.mit.edu	37	15	65496876	65496877	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr15:65496876_65496877delCA	ENST00000261883.4	-	6	814_815	c.648_649delTG	c.(646-651)tgtgatfs	p.CD216fs		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	216					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATGCAGGCATCACAGTCAGCAT	0.584													11	26	---	---	---	---					
ZSCAN32	54925	broad.mit.edu	37	16	3440134	3440144	+	Splice_Site	DEL	CTGTAACAACA	CTGTAACAACA	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr16:3440134_3440144delCTGTAACAACA	ENST00000396852.4	-	5	935		c.e5-1		ZSCAN32_ENST00000574940.1_Splice_Site|ZSCAN32_ENST00000422427.2_5'UTR|ZSCAN32_ENST00000396846.3_Splice_Site|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000304926.3_5'UTR	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1			zinc finger and SCAN domain containing 32																		TGGCTGGTCCCTGTAACAACACTGGAGCTGC	0.578													5	6	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25753405	25753405	+	RNA	DEL	A	A	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr17:25753405delA	ENST00000586223.1	+	0	1495					NR_033892.1																						GGGGAAGGTCACTGAAGCCCC	0.622													12	21	---	---	---	---					
ZNF546	339327	broad.mit.edu	37	19	40521566	40521567	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chr19:40521566_40521567delAG	ENST00000347077.4	+	7	2605_2606	c.2389_2390delAG	c.(2389-2391)agafs	p.R797fs	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Frame_Shift_Del_p.R771fs	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGACATCACAGAATTCATACT	0.361													20	58	---	---	---	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YF-AA3L-01A-11D-A38G-08	TCGA-YF-AA3L-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3931f7c-49e5-459a-80bd-ccabc3dc2438	121519e9-6003-4893-8c78-501f1196c57e	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													8	102	---	---	---	---