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
PRDM16	63976	broad.mit.edu	37	1	3335280	3335280	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:3335280A>T	uc001akf.2	+	12	2991	c.2911A>T	c.(2911-2913)AGG>TGG	p.R971W	PRDM16_uc001akc.2_Missense_Mutation_p.R970W|PRDM16_uc001akd.2_Missense_Mutation_p.R970W|PRDM16_uc001ake.2_Missense_Mutation_p.R971W|PRDM16_uc009vlh.2_Missense_Mutation_p.R671W	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	971	Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CAGACACCTGAGGACGCACAC	0.652			T	EVI1	MDS|AML							
MEGF6	1953	broad.mit.edu	37	1	3409280	3409280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:3409280C>T	uc001akl.2	-	35	4666	c.4439G>A	c.(4438-4440)GGG>GAG	p.G1480E	MEGF6_uc001akk.2_Missense_Mutation_p.G1168E	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1480	EGF-like 27.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCCCCACCCCCGCAGTCACA	0.642												
HSPG2	3339	broad.mit.edu	37	1	22188486	22188486	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:22188486C>A	uc001bfj.2	-	38	4903	c.4863G>T	c.(4861-4863)GAG>GAT	p.E1621D	HSPG2_uc009vqd.2_Missense_Mutation_p.E1622D	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1621	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCACATGTTCTCTGGGTTGG	0.602												
PTPRU	10076	broad.mit.edu	37	1	29639111	29639111	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:29639111G>A	uc001bru.2	+	23	3260	c.3150G>A	c.(3148-3150)GCG>GCA	p.A1050A	PTPRU_uc001brv.2_Silent_p.A1046A|PTPRU_uc001brw.2_Silent_p.A1040A|PTPRU_uc009vtq.2_Silent_p.A1046A|PTPRU_uc009vtr.2_Silent_p.A1037A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1050	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACTTCACAGCGTGGCCAGAGC	0.617												
HIVEP3	59269	broad.mit.edu	37	1	42047444	42047444	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:42047444G>A	uc001cgz.3	-	4	4238	c.3025C>T	c.(3025-3027)CGC>TGC	p.R1009C	HIVEP3_uc001cha.3_Missense_Mutation_p.R1009C|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1009	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATTTGCTGCGTGTCTCGGTC	0.612												
CYP4A22	284541	broad.mit.edu	37	1	47610317	47610317	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:47610317C>T	uc001cqv.1	+	8	1044	c.993C>T	c.(991-993)TCC>TCT	p.S331S	CYP4A22_uc009vyo.2_Silent_p.S331S|CYP4A22_uc009vyp.2_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	331						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						GTGGGATCTCCTGGATCCTCT	0.592												
ELAVL4	1996	broad.mit.edu	37	1	50666696	50666696	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:50666696G>A	uc001csb.2	+	7	1257	c.989G>A	c.(988-990)CGT>CAT	p.R330H	ELAVL4_uc001cry.3_Missense_Mutation_p.R319H|ELAVL4_uc001crz.3_Missense_Mutation_p.R316H|ELAVL4_uc001csa.3_Missense_Mutation_p.R333H|ELAVL4_uc001csc.3_Missense_Mutation_p.R316H|ELAVL4_uc010omz.1_Missense_Mutation_p.R321H	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	330	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						AAGGTGATTCGTGACTTCAAC	0.542												
DENND2C	163259	broad.mit.edu	37	1	115130565	115130565	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:115130565G>A	uc001efd.1	-	19	3142	c.2440C>T	c.(2440-2442)CTC>TTC	p.L814F	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.L757F	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	814	dDENN.									skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAGTTGAGTGTCACATCT	0.423												
TSHB	7252	broad.mit.edu	37	1	115576036	115576036	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:115576036C>T	uc001efs.1	+	2	121	c.53C>T	c.(52-54)GCG>GTG	p.A18V		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	18					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGTGGGCAAGCGATGTCTTTT	0.383												
BCL9	607	broad.mit.edu	37	1	147084944	147084944	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:147084944G>A	uc001epq.2	+	5	1056	c.316G>A	c.(316-318)GAC>AAC	p.D106N	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	106					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TATTTCCGCCGACTCCTTTGA	0.517			T	IGH@|IGL@	B-ALL							
CD1C	911	broad.mit.edu	37	1	158259915	158259915	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:158259915G>A	uc001fru.2	+	1	353	c.61G>A	c.(61-63)GCA>ACA	p.A21T	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	21	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CAATGCAGACGGTAAGAACAT	0.473												
SPTA1	6708	broad.mit.edu	37	1	158650415	158650415	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:158650415C>T	uc001fst.1	-	5	835	c.636G>A	c.(634-636)GGG>GGA	p.G212G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	212	Spectrin 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAACAACTCTCCCTTCTTTAG	0.458												
NCSTN	23385	broad.mit.edu	37	1	160321051	160321051	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:160321051C>T	uc001fvx.2	+	6	746	c.622C>T	c.(622-624)CCA>TCA	p.P208S	NCSTN_uc001fvy.2_Missense_Mutation_p.P188S|NCSTN_uc010pjf.1_Intron|NCSTN_uc001fvz.2_Intron|NCSTN_uc010pjg.1_Intron	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	208	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTCAGCACCAACCTTCCC	0.542												
ZBTB41	360023	broad.mit.edu	37	1	197168618	197168618	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:197168618T>C	uc001gtx.1	-	1	1055	c.986A>G	c.(985-987)AAT>AGT	p.N329S	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TTCTGCATCATTATGATCCTT	0.413												
CR2	1380	broad.mit.edu	37	1	207642548	207642548	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:207642548T>C	uc001hfw.2	+	5	882	c.788T>C	c.(787-789)GTT>GCT	p.V263A	CR2_uc001hfv.2_Missense_Mutation_p.V263A|CR2_uc009xch.2_Missense_Mutation_p.V263A|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	263	Sushi 4.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GGACAGGGAGTTGCTTGGACC	0.463												
PTPN14	5784	broad.mit.edu	37	1	214556785	214556785	+	Missense_Mutation	SNP	C	C	T	rs146980027		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:214556785C>T	uc001hkk.1	-	13	2684	c.2413G>A	c.(2413-2415)GGC>AGC	p.G805S	PTPN14_uc010pty.1_Missense_Mutation_p.G706S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	805					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATGGATGGGCCGAGAGAGGCC	0.602												
HEATR1	55127	broad.mit.edu	37	1	236735824	236735824	+	Silent	SNP	T	T	C	rs149288116		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:236735824T>C	uc001hyd.1	-	26	3719	c.3594A>G	c.(3592-3594)GAA>GAG	p.E1198E	HEATR1_uc009xgh.1_Silent_p.E360E	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1198					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACCTCCAACTTCCTGAACAG	0.393												
OR1C1	26188	broad.mit.edu	37	1	247920825	247920825	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:247920825C>T	uc010pza.1	-	1	884	c.884G>A	c.(883-885)AGG>AAG	p.R295K		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTTCATATCCCTGTTCCTTAG	0.438												
OR1C1	26188	broad.mit.edu	37	1	247921329	247921329	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:247921329C>A	uc010pza.1	-	1	380	c.380G>T	c.(379-381)TGC>TTC	p.C127F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TAAGGGGTGGCAAATCGCCAC	0.502												
CUBN	8029	broad.mit.edu	37	10	17061890	17061890	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:17061890G>A	uc001ioo.2	-	28	4162	c.4110C>T	c.(4108-4110)CTC>CTT	p.L1370L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1370	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCTGTAAGGAGCAGCACTT	0.507												
MKX	283078	broad.mit.edu	37	10	28023604	28023604	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:28023604G>A	uc001ity.3	-	5	844	c.619C>T	c.(619-621)CGG>TGG	p.R207W	MKX_uc001itx.3_Missense_Mutation_p.R207W	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	207					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCACTGGCCCGTGACTCTGGC	0.498												
CHAT	1103	broad.mit.edu	37	10	50830161	50830161	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:50830161C>T	uc001jhz.2	+	5	870	c.717C>T	c.(715-717)ATC>ATT	p.I239I	CHAT_uc001jhv.1_Silent_p.I121I|CHAT_uc001jhx.1_Silent_p.I121I|CHAT_uc001jhy.1_Silent_p.I121I|CHAT_uc001jia.2_Silent_p.I121I|CHAT_uc010qgs.1_Silent_p.I121I	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	239					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGCCTCATCTCTGGTGTAC	0.483												
TET1	80312	broad.mit.edu	37	10	70333412	70333412	+	Silent	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:70333412A>G	uc001jok.3	+	2	1822	c.1317A>G	c.(1315-1317)CCA>CCG	p.P439P		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	439					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CTCCAAATCCAATTGCTACCT	0.468												
P4HA1	5033	broad.mit.edu	37	10	74804763	74804763	+	Missense_Mutation	SNP	G	G	A	rs145054165	by1000genomes	TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:74804763G>A	uc010qka.1	-	10	1458	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	P4HA1_uc001jtg.2_Missense_Mutation_p.T375M|P4HA1_uc001jth.2_Intron|P4HA1_uc010qkb.1_Intron|P4HA1_uc001jti.2_Intron	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	375						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAATGTACCGTCTCCAAGTC	0.373												
NRG3	10718	broad.mit.edu	37	10	84744956	84744956	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:84744956C>T	uc001kco.2	+	9	1713	c.1686C>T	c.(1684-1686)GAC>GAT	p.D562D	NRG3_uc010qlz.1_Silent_p.D561D|NRG3_uc001kcp.2_Silent_p.D365D|NRG3_uc001kcq.2_Silent_p.D212D|NRG3_uc001kcr.2_Silent_p.D236D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	586	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCAAAAGGACCTGGTGGGCT	0.443												
LRIT2	340745	broad.mit.edu	37	10	85982145	85982145	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:85982145G>A	uc001kcy.2	-	3	1192	c.1184C>T	c.(1183-1185)ACC>ATC	p.T395I	LRIT2_uc010qmc.1_Missense_Mutation_p.T405I	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	395	Fibronectin type-III.					integral to membrane				ovary(2)	2						AATGTAGAGGGTGAACCACTC	0.522												
GRID1	2894	broad.mit.edu	37	10	87615903	87615903	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:87615903G>A	uc001kdl.1	-	7	1097	c.996C>T	c.(994-996)AAC>AAT	p.N332N	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	332	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGTGAAAGGCGTTGGCCAGCA	0.517										Multiple Myeloma(13;0.14)		
HPSE2	60495	broad.mit.edu	37	10	100503772	100503772	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:100503772C>T	uc001kpn.1	-	4	712	c.652G>A	c.(652-654)GGA>AGA	p.G218R	HPSE2_uc009xwc.1_Missense_Mutation_p.G208R|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	218					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AGGTGGAGTCCAGAGCAATCA	0.433												
SEMA4G	57715	broad.mit.edu	37	10	102740027	102740027	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:102740027G>A	uc010qpt.1	+	11	1720	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.R426H|SEMA4G_uc001krx.2_Missense_Mutation_p.R426H|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	426	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCAACATACGCTACACACAC	0.582												
PSD	5662	broad.mit.edu	37	10	104176654	104176654	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:104176654G>A	uc001kvg.1	-	2	669	c.142C>T	c.(142-144)CGG>TGG	p.R48W	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R48W|PSD_uc001kvi.1_Missense_Mutation_p.R48W|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	48	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCACTCGCCGTAGCAAGGAG	0.692												
SCUBE2	57758	broad.mit.edu	37	11	9047254	9047254	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:9047254T>C	uc001mhh.1	-	20	2842	c.2762A>G	c.(2761-2763)TAT>TGT	p.Y921C	SCUBE2_uc001mhi.1_Missense_Mutation_p.Y893C|SCUBE2_uc001mhj.1_Missense_Mutation_p.Y729C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	921	CUB.					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTTACCATCATATGTCACGTA	0.532												
KCNA4	3739	broad.mit.edu	37	11	30033593	30033593	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:30033593G>A	uc001msk.2	-	2	1785	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	211						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAGGGTCAAAGTACTGAGTCC	0.473												
MYBPC3	4607	broad.mit.edu	37	11	47361309	47361309	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:47361309G>A	uc001nfa.3	-	20	2015	c.1960C>T	c.(1960-1962)CGC>TGC	p.R654C	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	653	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		TCTGGTATGCGGCCTGGGCAG	0.567												
OR4C46	119749	broad.mit.edu	37	11	51515980	51515980	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:51515980A>T	uc010ric.1	+	1	699	c.699A>T	c.(697-699)AAA>AAT	p.K233N		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAAGGCACAAAGCCCTCTCCA	0.473												
OR5W2	390148	broad.mit.edu	37	11	55681708	55681708	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:55681708C>T	uc010rir.1	-	1	351	c.351G>A	c.(349-351)GTG>GTA	p.V117V		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CAAAGGCCATCACTGACAGCA	0.458												
OR5M1	390168	broad.mit.edu	37	11	56380614	56380614	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:56380614C>T	uc001nja.1	-	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GGCTACATAGCGATCCAATGC	0.463												
TMEM132A	54972	broad.mit.edu	37	11	60702763	60702763	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:60702763G>A	uc001nqj.2	+	10	2069	c.1876G>A	c.(1876-1878)GCG>ACG	p.A626T	TMEM132A_uc001nqi.2_Missense_Mutation_p.A627T|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	626	Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGGGGAGCAGGCGCTGGCTGT	0.662												
AHNAK	79026	broad.mit.edu	37	11	62293791	62293791	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:62293791T>C	uc001ntl.2	-	5	8398	c.8098A>G	c.(8098-8100)ATG>GTG	p.M2700V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2700					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTGATATTCATCTCTGGCATC	0.453												
AHNAK	79026	broad.mit.edu	37	11	62297323	62297323	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:62297323G>A	uc001ntl.2	-	5	4866	c.4566C>T	c.(4564-4566)GGC>GGT	p.G1522G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1522					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTCCTTTAAAGCCAGGCATGC	0.507												
GPR152	390212	broad.mit.edu	37	11	67219257	67219257	+	Silent	SNP	G	G	A	rs144851549		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:67219257G>A	uc001olm.2	-	1	944	c.939C>T	c.(937-939)TTC>TTT	p.F313F	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	313	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGCTGCCGCGAAGGACGAGA	0.652												
CLNS1A	1207	broad.mit.edu	37	11	77340917	77340917	+	Silent	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:77340917T>C	uc001oyk.2	-	2	245	c.153A>G	c.(151-153)GGA>GGG	p.G51G	CLNS1A_uc001oyl.2_Silent_p.G51G	NM_001293	NP_001284	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	51					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			ovary(1)	1	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			AGAATCCTAATCCAGAGCCAT	0.383												
POU2F3	25833	broad.mit.edu	37	11	120168972	120168972	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:120168972A>G	uc001pxc.2	+	4	235	c.133_splice	c.e4-2	p.I45_splice	POU2F3_uc010rzk.1_Splice_Site|POU2F3_uc010rzl.1_Splice_Site	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCCACTTGCAGATTAAAACC	0.547												
PANX3	116337	broad.mit.edu	37	11	124481615	124481615	+	Missense_Mutation	SNP	G	G	A	rs142639637	byFrequency	TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:124481615G>A	uc001qah.2	+	1	163	c.163G>A	c.(163-165)GCC>ACC	p.A55T		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	55	Helical; (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCTGGCATTCGCCCAGGAGTT	0.587												
CLEC4E	26253	broad.mit.edu	37	12	8689759	8689759	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:8689759G>A	uc001quo.1	-	4	489	c.324C>T	c.(322-324)TGC>TGT	p.C108C		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	108	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					CCATGGCTGAGCAGTTCTTTA	0.478												
RECQL	5965	broad.mit.edu	37	12	21644547	21644547	+	Silent	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:21644547T>C	uc001rex.2	-	4	468	c.120A>G	c.(118-120)AAA>AAG	p.K40K	RECQL_uc001rey.2_Silent_p.K40K	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	40					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TTGTCAGGACTTTTTTTTTCT	0.383								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
CCNT1	904	broad.mit.edu	37	12	49087819	49087819	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:49087819C>T	uc001rse.1	-	9	1501	c.1178G>A	c.(1177-1179)CGC>CAC	p.R393H	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.R108H	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	393	Potential.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						ATGCTTCGCGCGGTATTCTTT	0.448												
SDR9C7	121214	broad.mit.edu	37	12	57317711	57317711	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:57317711G>T	uc010sqw.1	-	4	848	c.848C>A	c.(847-849)GCC>GAC	p.A283D		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	283						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						GAGGAGTTTGGCATCCAGGCC	0.557												
GRIP1	23426	broad.mit.edu	37	12	66765682	66765682	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:66765682A>T	uc001stk.2	-	22	2889	c.2648T>A	c.(2647-2649)ATG>AAG	p.M883K	GRIP1_uc010sta.1_Missense_Mutation_p.M827K|GRIP1_uc001stj.2_Missense_Mutation_p.M650K|GRIP1_uc001stl.1_Missense_Mutation_p.M760K|GRIP1_uc001stm.2_Missense_Mutation_p.M868K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	935					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTCAAACTCATCGTGCTCCC	0.517												
CAND1	55832	broad.mit.edu	37	12	67696319	67696319	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:67696319G>A	uc001stn.2	+	8	1654	c.1217G>A	c.(1216-1218)CGT>CAT	p.R406H	CAND1_uc001sto.2_Missense_Mutation_p.R84H	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	406	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AAGCAAACTCGTCCTGTACAA	0.413												
GALNT4	8693	broad.mit.edu	37	12	89917407	89917407	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:89917407G>C	uc001tbd.2	-	1	1129	c.920C>G	c.(919-921)CCT>CGT	p.P307R	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.P304R|GALNT4_uc010suo.1_5'UTR	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	307	Catalytic subdomain B.|Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0						AGCCATGGTAGGTGATCTGAT	0.468												
NUAK1	9891	broad.mit.edu	37	12	106461416	106461416	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:106461416C>A	uc001tlj.1	-	7	2530	c.1150G>T	c.(1150-1152)GCA>TCA	p.A384S		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	384							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						TCAGGCACTGCATCCTGACCA	0.547												
WSCD2	9671	broad.mit.edu	37	12	108634186	108634186	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:108634186G>A	uc001tms.2	+	8	1954	c.1210G>A	c.(1210-1212)GGC>AGC	p.G404S	WSCD2_uc001tmt.2_Missense_Mutation_p.G404S|WSCD2_uc001tmu.2_Missense_Mutation_p.G152S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	404						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GCACGAAAGCGGCCAGAAAGA	0.607												
UBE3B	89910	broad.mit.edu	37	12	109945375	109945375	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:109945375C>T	uc001top.2	+	15	2060	c.1457C>T	c.(1456-1458)ACT>ATT	p.T486I	UBE3B_uc001toq.2_Missense_Mutation_p.T486I|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.T486I	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	486					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CCAGGTCTCACTTACCTTGAT	0.478												
ATXN2	6311	broad.mit.edu	37	12	111908438	111908438	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:111908438G>A	uc001tsj.2	-	19	3269	c.3107C>T	c.(3106-3108)ACG>ATG	p.T1036M	ATXN2_uc001tsh.2_Missense_Mutation_p.T771M|ATXN2_uc001tsi.2_Missense_Mutation_p.T747M|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.T224M|ATXN2_uc001tsl.1_Missense_Mutation_p.T55M	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1036	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						AACATATTGCGTGGAGTAAGC	0.557												
SDSL	113675	broad.mit.edu	37	12	113866986	113866986	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:113866986C>A	uc001tvi.2	+	5	446	c.236C>A	c.(235-237)GCT>GAT	p.A79D	SDSL_uc009zwh.2_Missense_Mutation_p.A79D	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	serine dehydratase-like	79					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	GGCATCGCTGCTGCCTATGCT	0.632												
GCN1L1	10985	broad.mit.edu	37	12	120621399	120621399	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:120621399C>T	uc001txo.2	-	5	412	c.399G>A	c.(397-399)AAG>AAA	p.K133K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	133					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCTTGTCGCTTGGCTCTCG	0.552												
ULK1	8408	broad.mit.edu	37	12	132396496	132396496	+	Missense_Mutation	SNP	G	G	A	rs138390533		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:132396496G>A	uc001uje.2	+	13	1226	c.958G>A	c.(958-960)GAG>AAG	p.E320K		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	320	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTCCCTGGGCGAGATGCAGCA	0.647												
WASF3	10810	broad.mit.edu	37	13	27255334	27255334	+	Missense_Mutation	SNP	G	G	T	rs146594472		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:27255334G>T	uc001uqv.2	+	8	1085	c.860G>T	c.(859-861)CGG>CTG	p.R287L	WASF3_uc001uqw.2_Missense_Mutation_p.R284L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	287					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CATGAGTACCGGCCCCCATCT	0.692												
WASF3	10810	broad.mit.edu	37	13	27256945	27256945	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:27256945G>A	uc001uqv.2	+	9	1410	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	WASF3_uc001uqw.2_Silent_p.P392P	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	395	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TCACAGCCCCGCCACCCCCGG	0.701												
SLITRK6	84189	broad.mit.edu	37	13	86368839	86368839	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:86368839G>A	uc001vll.1	-	2	2264	c.1805C>T	c.(1804-1806)ACG>ATG	p.T602M	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	602	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CACAGCGTCCGTAAGAGATCG	0.423												
MYH7	4625	broad.mit.edu	37	14	23887536	23887536	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:23887536G>A	uc001wjx.2	-	30	4158	c.4052C>T	c.(4051-4053)ACG>ATG	p.T1351M	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGGCCTCCGTCTCCTCCTC	0.672												
RDH12	145226	broad.mit.edu	37	14	68191269	68191269	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:68191269G>A	uc001xjz.3	+	4	472	c.148G>A	c.(148-150)GGC>AGC	p.G50S		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	50	NADP (By similarity).				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CGCCAACACGGGCATTGGCAA	0.557												
KIAA0317	9870	broad.mit.edu	37	14	75140795	75140795	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:75140795A>C	uc001xqb.2	-	9	1605	c.1100T>G	c.(1099-1101)TTC>TGC	p.F367C	KIAA0317_uc010tut.1_Missense_Mutation_p.F206C|KIAA0317_uc001xqc.2_Missense_Mutation_p.F367C	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	367					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CTTCAGGTAGAACTCCTTCAC	0.413												
TMEM63C	57156	broad.mit.edu	37	14	77710781	77710781	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:77710781C>T	uc001xtf.2	+	16	1643	c.1431C>T	c.(1429-1431)CTC>CTT	p.L477L	TMEM63C_uc010asq.1_Silent_p.L477L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	477	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCGCCTTCCTCGAGGCCCACT	0.612												
NRXN3	9369	broad.mit.edu	37	14	79175849	79175849	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:79175849A>T	uc001xun.2	+	4	883	c.392A>T	c.(391-393)AAA>ATA	p.K131I	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K265I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	504	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGAATACAAAAGTAGACTTC	0.512												
MKRN3	7681	broad.mit.edu	37	15	23812235	23812235	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:23812235G>T	uc001ywh.3	+	1	1782	c.1306G>T	c.(1306-1308)GGG>TGG	p.G436W	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	436						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCCAGGTGGTGGGTCATTCAG	0.527												
CASC5	57082	broad.mit.edu	37	15	40914746	40914746	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:40914746A>G	uc010bbs.1	+	11	2523	c.2362A>G	c.(2362-2364)ATG>GTG	p.M788V	CASC5_uc010ucq.1_Missense_Mutation_p.M612V|CASC5_uc001zme.2_Missense_Mutation_p.M762V|CASC5_uc010bbt.1_Missense_Mutation_p.M762V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	788					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGAGCAAAATATGGATCTAAC	0.403												
SPATA5L1	79029	broad.mit.edu	37	15	45697549	45697549	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:45697549G>A	uc001zve.2	+	2	1230	c.1121G>A	c.(1120-1122)AGA>AAA	p.R374K	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	374						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		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)		CTTAAACAAAGAAAGGAAATT	0.358												
AP4E1	23431	broad.mit.edu	37	15	51250863	51250863	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:51250863A>T	uc001zyx.1	+	14	1753	c.1723A>T	c.(1723-1725)ATC>TTC	p.I575F		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	575					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGAGAGATTAATCCATGAATT	0.368												
ZNF609	23060	broad.mit.edu	37	15	64968058	64968058	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:64968058G>A	uc002ann.2	+	4	3005	c.3005G>A	c.(3004-3006)CGG>CAG	p.R1002Q		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1002						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACGGCTTACCGGCAGCAGTAC	0.567												
PML	5371	broad.mit.edu	37	15	74290464	74290464	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:74290464G>A	uc002awv.2	+	2	389	c.249G>A	c.(247-249)GCG>GCA	p.A83A	PML_uc002awm.2_Silent_p.A83A|PML_uc002awl.2_Silent_p.A83A|PML_uc002awj.1_Silent_p.A83A|PML_uc002awk.2_Silent_p.A83A|PML_uc002awn.2_Silent_p.A83A|PML_uc002awo.2_Silent_p.A83A|PML_uc002awp.2_Silent_p.A83A|PML_uc002awq.2_Silent_p.A83A|PML_uc002awr.2_Silent_p.A83A|PML_uc002aws.2_Silent_p.A83A|PML_uc002awt.2_Silent_p.A83A|PML_uc002awu.2_Silent_p.A83A|PML_uc010ule.1_Intron|PML_uc002aww.1_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	83	RING-type.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCCTGGAGGCGTCGGGCATGC	0.637			T	RARA|PAX5	APL|ALL							
CPEB1	64506	broad.mit.edu	37	15	83218340	83218340	+	Silent	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:83218340G>T	uc002bit.2	-	9	1601	c.1464C>A	c.(1462-1464)CCC>CCA	p.P488P	CPEB1_uc002biq.2_Silent_p.P348P|CPEB1_uc002bir.2_Silent_p.P353P|CPEB1_uc002bis.2_Silent_p.P348P|CPEB1_uc010uod.1_Silent_p.P197P|CPEB1_uc010uoe.1_Silent_p.P426P|CPEB1_uc002biu.2_Silent_p.P450P|CPEB1_uc010uof.1_Silent_p.P348P|CPEB1_uc002biv.2_Silent_p.P423P|CPEB1_uc002bip.2_Silent_p.P197P	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	428	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGTCCTGCTGGGGTCAAGCC	0.557												
CACNA1H	8912	broad.mit.edu	37	16	1245065	1245065	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:1245065G>C	uc002cks.2	+	3	641	c.393G>C	c.(391-393)GAG>GAC	p.E131D	CACNA1H_uc002ckt.2_Missense_Mutation_p.E131D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	131	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCTCCGAGCGCTGCAACA	0.343											OREG0023543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CREBBP	1387	broad.mit.edu	37	16	3786141	3786141	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:3786141C>T	uc002cvv.2	-	28	4828	c.4624G>A	c.(4624-4626)GGT>AGT	p.G1542S	CREBBP_uc002cvw.2_Missense_Mutation_p.G1504S	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1542	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGAAATCACCTTCAAAATAG	0.463			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
GLIS2	84662	broad.mit.edu	37	16	4384894	4384894	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:4384894C>T	uc002cwc.1	+	3	495	c.438C>T	c.(436-438)GCC>GCT	p.A146A		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	146	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						ACCTGCCTGCCTCCTCCTTCC	0.667												
LONP2	83752	broad.mit.edu	37	16	48385682	48385682	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:48385682C>T	uc002efi.1	+	15	2617	c.2528C>T	c.(2527-2529)ACC>ATC	p.T843I	LONP2_uc002efj.1_Missense_Mutation_p.T799I	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	843					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						ACTGTCAAGACCAGACCTGGT	0.398												
ZNF423	23090	broad.mit.edu	37	16	49670153	49670153	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:49670153C>T	uc002efs.2	-	5	3208	c.2910G>A	c.(2908-2910)TCG>TCA	p.S970S	ZNF423_uc010vgn.1_Silent_p.S853S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	970	C2H2-type 23.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCGTCAGCAGCGAAGGGAAGC	0.612												
TOX3	27324	broad.mit.edu	37	16	52473731	52473731	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:52473731G>A	uc002egw.2	-	7	1308	c.1137C>T	c.(1135-1137)CTC>CTT	p.L379L	TOX3_uc010vgt.1_Silent_p.L374L|TOX3_uc010vgu.1_Silent_p.L379L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	379					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						TTGACCTAGGGAGGGATTGCT	0.522												
IRX5	10265	broad.mit.edu	37	16	54966510	54966510	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:54966510G>A	uc002ehv.2	+	2	350	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	IRX5_uc010cca.1_Missense_Mutation_p.R169Q|IRX5_uc002ehw.2_Missense_Mutation_p.R51Q	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	117	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CCAGCGTACCGGAAGAACGCC	0.657												
DVL2	1856	broad.mit.edu	37	17	7130478	7130478	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:7130478C>T	uc002gez.1	-	13	1756	c.1474G>A	c.(1474-1476)GTC>ATC	p.V492I	DVL2_uc010vtr.1_Missense_Mutation_p.V486I	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	492	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						ATCTTGTTGACGGTGTGTCGG	0.592												
NCOR1	9611	broad.mit.edu	37	17	15973507	15973507	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:15973507G>A	uc002gpo.2	-	31	4725	c.4485C>T	c.(4483-4485)GGC>GGT	p.G1495G	NCOR1_uc002gpn.2_Silent_p.G1511G|NCOR1_uc002gpp.1_Silent_p.G1402G|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Silent_p.G79G|NCOR1_uc010coy.2_Silent_p.G403G|NCOR1_uc010vwc.1_Silent_p.G306G	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1495	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATGGGTGAGCCTCTGGACA	0.413												
EFCAB5	374786	broad.mit.edu	37	17	28419089	28419089	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:28419089C>T	uc002het.2	+	21	4330	c.4138C>T	c.(4138-4140)CGT>TGT	p.R1380C	EFCAB5_uc010cse.2_Missense_Mutation_p.R1135C|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1380							calcium ion binding			ovary(1)|skin(1)	2						GAAACTAGTGCGTGACATCCT	0.388												
ERBB2	2064	broad.mit.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	T	rs121913468		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:37880261G>T	uc002hso.2	+	19	2543	c.2305G>T	c.(2305-2307)GAC>TAC	p.D769Y	ERBB2_uc002hsm.2_Missense_Mutation_p.D739Y|ERBB2_uc010cwa.2_Missense_Mutation_p.D754Y|ERBB2_uc002hsp.2_Missense_Mutation_p.D572Y|ERBB2_uc010cwb.2_Missense_Mutation_p.D769Y|ERBB2_uc010wek.1_Missense_Mutation_p.D493Y	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	769	Cytoplasmic (Potential).|Protein kinase.				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	p.D769H(3)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	AGAAATCTTAGACGTAAGCCC	0.532		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
CACNA1G	8913	broad.mit.edu	37	17	48684262	48684262	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:48684262C>G	uc002irk.1	+	24	4796	c.4424C>G	c.(4423-4425)GCC>GGC	p.A1475G	CACNA1G_uc002irj.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irl.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irm.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irn.1_Missense_Mutation_p.A1452G|CACNA1G_uc002iro.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irp.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irq.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irr.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irs.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irt.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irv.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irw.1_Missense_Mutation_p.A1452G|CACNA1G_uc002iru.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irx.1_Missense_Mutation_p.A1388G|CACNA1G_uc002iry.1_Missense_Mutation_p.A1388G|CACNA1G_uc002irz.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isa.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isb.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isc.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isd.1_Missense_Mutation_p.A1388G|CACNA1G_uc002ise.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isf.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isg.1_Missense_Mutation_p.A1388G|CACNA1G_uc002ish.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isi.1_Missense_Mutation_p.A1365G|CACNA1G_uc002isj.2_Missense_Mutation_p.A199G	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1475	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCATCAGGCCCTGATGTCC	0.562												
DNAI2	64446	broad.mit.edu	37	17	72305439	72305439	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:72305439C>T	uc002jkf.2	+	10	1358	c.1259C>T	c.(1258-1260)CCG>CTG	p.P420L	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_Missense_Mutation_p.R99Q|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	420	WD 5.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CCCGTGAGGCCGACCGTTTTC	0.572									Kartagener_syndrome			
RECQL5	9400	broad.mit.edu	37	17	73626708	73626708	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:73626708G>A	uc010dgl.2	-	13	1865	c.1709C>T	c.(1708-1710)ACC>ATC	p.T570I	RECQL5_uc010dgk.2_Missense_Mutation_p.T543I|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	570					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCATCAGCGGTACGTGTTGA	0.627								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
FOXJ1	2302	broad.mit.edu	37	17	74134139	74134139	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:74134139G>A	uc002jqw.2	-	2	651	c.561C>T	c.(559-561)GAC>GAT	p.D187D	FOXJ1_uc002jqx.2_Silent_p.D187D|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	187	Fork-head.				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TGCCTGGTTCGTCCTTCTCCC	0.597												
HGS	9146	broad.mit.edu	37	17	79660574	79660574	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:79660574C>T	uc002kbg.2	+	9	781	c.704C>T	c.(703-705)CCC>CTC	p.P235L		NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	235	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GAGCTGCCCCCCGAGTACCTG	0.687												
EPB41L3	23136	broad.mit.edu	37	18	5397321	5397321	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:5397321C>T	uc002kmt.1	-	18	2663	c.2577G>A	c.(2575-2577)GAG>GAA	p.E859E	EPB41L3_uc010wzh.1_Silent_p.E690E|EPB41L3_uc002kmu.1_Silent_p.E637E|EPB41L3_uc010dkq.1_Silent_p.E528E|EPB41L3_uc002kms.1_Silent_p.E94E|EPB41L3_uc010wze.1_Silent_p.E164E|EPB41L3_uc010wzf.1_Silent_p.E156E|EPB41L3_uc010wzg.1_Silent_p.E131E|EPB41L3_uc010dkr.2_Silent_p.E251E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	859	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CACGCCGCTCCTCCACCAACA	0.602												
ROCK1	6093	broad.mit.edu	37	18	18586552	18586552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:18586552C>A	uc002kte.2	-	16	2586	c.1645G>T	c.(1645-1647)GAA>TAA	p.E549*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	549	Interaction with FHOD1.|Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TCATTGGCTTCTTCTAGCTAT	0.333												
CDH20	28316	broad.mit.edu	37	18	59195252	59195252	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:59195252A>C	uc010dps.1	+	6	1082	c.1070A>C	c.(1069-1071)AAT>ACT	p.N357T	CDH20_uc002lif.2_Missense_Mutation_p.N351T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	357	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				GAGGGAGCCAATCCTCACCTA	0.473												
SERPINB5	5268	broad.mit.edu	37	18	61170871	61170871	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:61170871G>C	uc002liz.3	+	7	1186	c.1044G>C	c.(1042-1044)TTG>TTC	p.L348F		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	348					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						AGGATGAATTGAATGCTGACC	0.413												
ADNP2	22850	broad.mit.edu	37	18	77893967	77893967	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:77893967C>G	uc002lnw.2	+	4	1126	c.671C>G	c.(670-672)GCC>GGC	p.A224G		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	224	C2H2-type 2.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AACGCCAATGCCAGCAGCCAG	0.398												
MAST1	22983	broad.mit.edu	37	19	12975973	12975973	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:12975973G>A	uc002mvm.2	+	14	1747	c.1619G>A	c.(1618-1620)CGA>CAA	p.R540Q		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	540	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AAGGACGCCCGAGAGTTCCTG	0.602												
BRD4	23476	broad.mit.edu	37	19	15354170	15354170	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:15354170G>A	uc002nar.2	-	14	2932	c.2710C>T	c.(2710-2712)CCC>TCC	p.P904S		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	904					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGGCCATGGGGGGCTGTGGG	0.677			T	NUT|C15orf55	lethal midline carcinoma of young people							
PIK3R2	5296	broad.mit.edu	37	19	18273827	18273827	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:18273827A>G	uc002nia.1	+	10	1672	c.1160A>G	c.(1159-1161)TAT>TGT	p.Y387C	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	387	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						GATGGGCACTATGGCTTCTCA	0.597												
KIAA1683	80726	broad.mit.edu	37	19	18378193	18378193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:18378193G>A	uc002nin.2	-	3	373	c.157C>T	c.(157-159)CAG>TAG	p.Q53*	KIAA1683_uc010ebn.2_Nonsense_Mutation_p.Q53*|KIAA1683_uc010xqe.1_Nonsense_Mutation_p.Q7*	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	53						mitochondrion				ovary(2)	2						TGCTGGGGCTGTGGAGGCGCT	0.652												
FFAR1	2864	broad.mit.edu	37	19	35842694	35842694	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:35842694C>T	uc002nzc.2	+	1	250	c.240C>T	c.(238-240)CCC>CCT	p.P80P		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	80	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CGCTGTGCCCCGTCTTCGCGG	0.706												
LRFN3	79414	broad.mit.edu	37	19	36431007	36431007	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:36431007G>A	uc002oco.2	+	2	1132	c.680G>A	c.(679-681)CGC>CAC	p.R227H		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	227	Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			CTCTTCTCCCGCCTGCCCCTG	0.701												
ZNF345	25850	broad.mit.edu	37	19	37368219	37368219	+	Silent	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:37368219C>A	uc002oex.2	+	3	865	c.487C>A	c.(487-489)CGA>AGA	p.R163R	ZNF345_uc002oey.3_Silent_p.R163R|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	163	C2H2-type 4.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGCCTTATTCGACATCAGAT	0.423												
MEGF8	1954	broad.mit.edu	37	19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:42873066G>A	uc002otl.3	+	36	6987	c.6352G>A	c.(6352-6354)GGG>AGG	p.G2118R	MEGF8_uc002otm.3_Missense_Mutation_p.G1726R|MEGF8_uc002otn.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2185	Extracellular (Potential).|EGF-like 5.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622												
SIGLEC8	27181	broad.mit.edu	37	19	51958738	51958738	+	Nonsense_Mutation	SNP	G	G	A	rs141833256		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:51958738G>A	uc002pwt.2	-	4	1052	c.985C>T	c.(985-987)CGA>TGA	p.R329*	SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	329	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.R329Q(1)		ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCTGAGCTCGGCAGGTGAAT	0.637												
FPR3	2359	broad.mit.edu	37	19	52327945	52327945	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:52327945G>A	uc002pxt.1	+	2	1128	c.944G>A	c.(943-945)CGC>CAC	p.R315H		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	315	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						AGACTGATTCGCTCTTTGCCC	0.512												
EIF2B4	8890	broad.mit.edu	37	2	27592028	27592028	+	Missense_Mutation	SNP	C	C	T	rs146262118		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:27592028C>T	uc002rkb.2	-	4	406	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	EIF2B4_uc002rjz.2_Missense_Mutation_p.R108Q|EIF2B4_uc002rka.2_Missense_Mutation_p.R73Q|EIF2B4_uc002rkc.2_Missense_Mutation_p.R87Q|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.R57Q|EIF2B4_uc002rkf.1_Missense_Mutation_p.R57Q|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	88					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTTCTCCCGAGGAGTGCC	0.547												
FAM179A	165186	broad.mit.edu	37	2	29274846	29274846	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:29274846C>T	uc010ezl.2	+	20	3298	c.2947C>T	c.(2947-2949)CTC>TTC	p.L983F	FAM179A_uc010ymm.1_Missense_Mutation_p.L928F|FAM179A_uc002rmr.3_Missense_Mutation_p.L510F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	983							binding			ovary(3)|skin(1)	4						CCTCAAGACGCTCCAGGAACT	0.637												
PRKCE	5581	broad.mit.edu	37	2	46203658	46203658	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:46203658A>T	uc002rut.2	+	3	700	c.503A>T	c.(502-504)AAC>ATC	p.N168I		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	168					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CATCAGGTCAACGGCCACAAG	0.577												
MITD1	129531	broad.mit.edu	37	2	99790441	99790441	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:99790441T>G	uc002szs.1	-	2	238	c.190A>C	c.(190-192)AAA>CAA	p.K64Q	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport,	64	MIT.				protein transport	late endosome membrane				large_intestine(1)|ovary(1)	2						TTGGAAATTTTTTCTCTGAGA	0.279												
NCKAP5	344148	broad.mit.edu	37	2	133542904	133542904	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:133542904G>T	uc002ttp.2	-	14	1854	c.1480C>A	c.(1480-1482)CAG>AAG	p.Q494K	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	494							protein binding				0						CTGCAGCTCTGGTTTGGAACT	0.488												
DHRS9	10170	broad.mit.edu	37	2	169938324	169938324	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:169938324G>A	uc002uep.2	+	5	1737	c.233G>A	c.(232-234)CGT>CAT	p.R78H	DHRS9_uc002ueq.2_Missense_Mutation_p.R78H|DHRS9_uc010zdc.1_Missense_Mutation_p.R138H|DHRS9_uc002uer.1_Missense_Mutation_p.R78H|DHRS9_uc010zdd.1_Missense_Mutation_p.R78H|DHRS9_uc010zde.1_Missense_Mutation_p.R78H	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	78					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0						GAGAGACTTCGTACTGTGCTT	0.483												
CIR1	9541	broad.mit.edu	37	2	175252479	175252479	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:175252479T>C	uc002uim.2	-	2	194	c.101A>G	c.(100-102)TAT>TGT	p.Y34C	CIR1_uc002uin.2_Translation_Start_Site|CIR1_uc002uio.2_Translation_Start_Site|CIR1_uc002uip.2_Translation_Start_Site	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	34	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						CTTCTTATCATATGATATTTT	0.269												
SESTD1	91404	broad.mit.edu	37	2	180008385	180008385	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:180008385G>A	uc002uni.3	-	9	933	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	261					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAACTTCCTGGTAGCGGGTAT	0.423												
ASNSD1	54529	broad.mit.edu	37	2	190535319	190535319	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:190535319C>T	uc002uqt.2	+	6	2233	c.1799C>T	c.(1798-1800)CCC>CTC	p.P600L		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	600	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GCTCTTCTGCCCAAACGGGCC	0.418												
STAT1	6772	broad.mit.edu	37	2	191864393	191864393	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:191864393T>C	uc002usj.2	-	7	888	c.500A>G	c.(499-501)CAA>CGA	p.Q167R	STAT1_uc010fse.1_Missense_Mutation_p.Q167R|STAT1_uc002usk.2_Missense_Mutation_p.Q167R|STAT1_uc002usl.2_Missense_Mutation_p.Q169R|STAT1_uc010fsf.1_Missense_Mutation_p.K10E	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	167					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATATTCATCTTGTAAATCTTC	0.388												
INO80D	54891	broad.mit.edu	37	2	206869610	206869610	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:206869610T>C	uc002vaz.3	-	11	2971	c.2566A>G	c.(2566-2568)ATG>GTG	p.M856V		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	856					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GTAGCTGCCATATTATCACCA	0.527												
ZNF343	79175	broad.mit.edu	37	20	2463941	2463941	+	Nonsense_Mutation	SNP	G	G	A	rs143248617		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:2463941G>A	uc002wge.1	-	6	2154	c.1666C>T	c.(1666-1668)CGA>TGA	p.R556*	ZNF343_uc010gao.1_Nonsense_Mutation_p.R556*|ZNF343_uc002wgd.1_Nonsense_Mutation_p.R466*	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	556	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTAAAGCCTCGGCCACACTCA	0.517												
PLCB4	5332	broad.mit.edu	37	20	9402067	9402067	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:9402067C>G	uc002wnf.2	+	25	2378	c.2242C>G	c.(2242-2244)CTC>GTC	p.L748V	PLCB4_uc010gbw.1_Missense_Mutation_p.L748V|PLCB4_uc010gbx.2_Missense_Mutation_p.L760V|PLCB4_uc002wne.2_Missense_Mutation_p.L748V|PLCB4_uc002wnh.2_Missense_Mutation_p.L595V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	748	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						GAATAATGGACTCAATCCAGT	0.403												
NFS1	9054	broad.mit.edu	37	20	34278407	34278407	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:34278407G>A	uc002xdw.1	-	5	553	c.489C>T	c.(487-489)TGC>TGT	p.C163C	NFS1_uc002xdt.1_Silent_p.C103C|NFS1_uc002xdu.1_Silent_p.C103C|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Intron	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	163					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCAGTGAACGGCAGGAGTCCA	0.527												
RPN2	6185	broad.mit.edu	37	20	35857114	35857114	+	Silent	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:35857114T>C	uc002xgp.2	+	12	1765	c.1461T>C	c.(1459-1461)GAT>GAC	p.D487D	RPN2_uc002xgo.3_Silent_p.D487D|RPN2_uc010gfw.2_Silent_p.D330D|RPN2_uc002xgq.2_Silent_p.D455D	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	487	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TCATTGGAGATGCCACTTTGA	0.473												
CTNNBL1	56259	broad.mit.edu	37	20	36374931	36374931	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:36374931A>G	uc010zvw.1	+	4	479	c.388A>G	c.(388-390)ATG>GTG	p.M130V	CTNNBL1_uc002xhh.2_5'UTR|CTNNBL1_uc010zvv.1_Missense_Mutation_p.M103V	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	130					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				GGTGGCCACCATGCCAGACCT	0.502												
SLC2A10	81031	broad.mit.edu	37	20	45354009	45354009	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:45354009A>G	uc002xsl.2	+	2	431	c.334A>G	c.(334-336)ATT>GTT	p.I112V		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	112	Helical; Name=4; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TGGCTTCGCCATTTCCCTCTC	0.657												
KCNB1	3745	broad.mit.edu	37	20	47989981	47989981	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:47989981C>T	uc002xur.1	-	2	2280	c.2116G>A	c.(2116-2118)GCT>ACT	p.A706T	KCNB1_uc002xus.1_Missense_Mutation_p.A706T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	706	Poly-Ala.|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCAGTCCAGCGACAGCAGCC	0.592												
GNAS	2778	broad.mit.edu	37	20	57415346	57415346	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:57415346G>A	uc002xzt.2	+	1	552	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	62					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAACAGCGCCGGAGCTTCCTT	0.692			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
TH1L	51497	broad.mit.edu	37	20	57568760	57568760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:57568760C>T	uc002yag.2	+	13	1576	c.1549C>T	c.(1549-1551)CGA>TGA	p.R517*	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	517					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			CAGTTACATCCGAAAGTGTCT	0.458												
CHRNA4	1137	broad.mit.edu	37	20	61990990	61990990	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:61990990G>A	uc002yes.2	-	2	316	c.138C>T	c.(136-138)TCC>TCT	p.S46S	CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	46	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGTTGTAACCGGAGAAGAGTT	0.652												
ZGPAT	84619	broad.mit.edu	37	20	62365998	62365998	+	Silent	SNP	G	G	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:62365998G>C	uc002ygk.2	+	5	1051	c.873G>C	c.(871-873)GTG>GTC	p.V291V	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Intron|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_Intron|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	291					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTCTTGCAGTGGTGGGGTCGG	0.622												
MYT1	4661	broad.mit.edu	37	20	62836422	62836422	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:62836422G>A	uc002yii.2	+	5	485	c.121G>A	c.(121-123)GTC>ATC	p.V41I	MYT1_uc002yih.2_Missense_Mutation_p.V41I|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	41	C2HC-type 1.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTCAGGGCACGTCCGGGGCAA	0.602												
UMODL1	89766	broad.mit.edu	37	21	43496205	43496205	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr21:43496205G>A	uc002zaf.1	+	2	168	c.168G>A	c.(166-168)ACG>ACA	p.T56T	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Silent_p.T56T|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	56	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CGTCCTACACGTCCTATGTGT	0.597												
GAB4	128954	broad.mit.edu	37	22	17472957	17472957	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:17472957T>C	uc002zlw.2	-	2	392	c.284A>G	c.(283-285)AAC>AGC	p.N95S	GAB4_uc010gqs.1_Missense_Mutation_p.N95S	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	95	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GAGGTTCAGGTTGATGGTGCG	0.493												
ZNF74	7625	broad.mit.edu	37	22	20754927	20754927	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:20754927G>A	uc010gsm.2	+	4	338	c.126G>A	c.(124-126)TCG>TCA	p.S42S	ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Silent_p.S42S|ZNF74_uc002zsi.2_5'UTR|ZNF74_uc010gsn.2_5'UTR	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCAGGAATCGGTGAGTTTCA	0.498												
PIWIL3	440822	broad.mit.edu	37	22	25124344	25124344	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:25124344T>C	uc003abd.1	-	15	2149	c.1732A>G	c.(1732-1734)AAG>GAG	p.K578E	PIWIL3_uc011ajx.1_Intron|PIWIL3_uc011ajy.1_Intron|PIWIL3_uc010gut.1_Intron	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	578	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						CAAATCACCTTGAAAACCAGC	0.408												
PLA2G3	50487	broad.mit.edu	37	22	31533765	31533765	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:31533765T>C	uc003aka.2	-	4	1126	c.997A>G	c.(997-999)ATG>GTG	p.M333V		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	333					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						GGAGAGACCATAGGGTCCTGG	0.617												
MYH9	4627	broad.mit.edu	37	22	36708139	36708139	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:36708139C>A	uc003apg.2	-	14	1914	c.1683G>T	c.(1681-1683)CAG>CAT	p.Q561H	MYH9_uc003aph.1_Missense_Mutation_p.Q425H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	561	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TGTCCTTCAGCTGCTTGGGCT	0.582			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
WDR48	57599	broad.mit.edu	37	3	39107333	39107333	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:39107333A>G	uc003cit.2	+	3	231	c.221A>G	c.(220-222)CAT>CGT	p.H74R	WDR48_uc011ayt.1_Missense_Mutation_p.H74R|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	74	WD 2.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGGAACACCATACTGATTGG	0.284												
RHOA	387	broad.mit.edu	37	3	49405954	49405954	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:49405954C>T	uc003cwu.2	-	3	460	c.184G>A	c.(184-186)GGG>AGG	p.G62R	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	62	GTP (By similarity).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TCTTCCTGCCCAGCTGTGTCC	0.473												
STXBP5L	9515	broad.mit.edu	37	3	120871364	120871364	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:120871364A>G	uc003eec.3	+	8	850	c.710A>G	c.(709-711)GAC>GGC	p.D237G	STXBP5L_uc011bji.1_Missense_Mutation_p.D237G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	237	WD 4.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GTATTCTGGGACTTGAAATCT	0.318												
MED12L	116931	broad.mit.edu	37	3	151073819	151073819	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:151073819G>A	uc003eyp.2	+	17	2586	c.2548G>A	c.(2548-2550)GCA>ACA	p.A850T	MED12L_uc011bnz.1_Missense_Mutation_p.A710T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A14T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	850					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTGACTTCGCAATACAGGT	0.403												
PIK3CA	5290	broad.mit.edu	37	3	178922370	178922370	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:178922370A>G	uc003fjk.2	+	6	1296	c.1139A>G	c.(1138-1140)AAT>AGT	p.N380S		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	380	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTTGTTCCAATCCCAGGTAA	0.303		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
FGF12	2257	broad.mit.edu	37	3	192125831	192125831	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:192125831G>A	uc003fsx.2	-	1	1008	c.182C>T	c.(181-183)CCG>CTG	p.P61L	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	61					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCGCCTCACCGGCCTCTTGCG	0.672												
MUC20	200958	broad.mit.edu	37	3	195451990	195451990	+	Silent	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:195451990G>T	uc010hzo.2	+	2	642	c.516G>T	c.(514-516)CTG>CTT	p.L172L	MUC20_uc010hzp.2_Silent_p.L137L|MUC20_uc011bte.1_5'Flank	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTAAGGGCCTGTCCTCAGAGA	0.577												
FAT4	79633	broad.mit.edu	37	4	126372362	126372362	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr4:126372362T>A	uc003ifj.3	+	9	10191	c.10191T>A	c.(10189-10191)GAT>GAA	p.D3397E	FAT4_uc011cgp.1_Missense_Mutation_p.D1695E|FAT4_uc003ifi.1_Missense_Mutation_p.D875E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3397	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCGTGCTTGATGCAAATGACC	0.433												
PCDH10	57575	broad.mit.edu	37	4	134073070	134073070	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr4:134073070G>A	uc003iha.2	+	1	2601	c.1775G>A	c.(1774-1776)CGC>CAC	p.R592H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R592H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	592	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGCTGCCCCGCTCGGCGGAG	0.657												
DCHS2	54798	broad.mit.edu	37	4	155219548	155219548	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr4:155219548G>T	uc003inw.2	-	18	4553	c.4553C>A	c.(4552-4554)ACT>AAT	p.T1518N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1518	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCCTCATCAGTCAGAAAATA	0.473												
PRDM9	56979	broad.mit.edu	37	5	23526774	23526774	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:23526774A>G	uc003jgo.2	+	11	1759	c.1577A>G	c.(1576-1578)TAT>TGT	p.Y526C		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	526	C2H2-type 2; degenerate.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AAAGTCAAGTATGGAGAGTGT	0.453										HNSCC(3;0.000094)		
CDH10	1008	broad.mit.edu	37	5	24593377	24593377	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:24593377C>T	uc003jgr.1	-	2	555	c.223G>A	c.(223-225)GTA>ATA	p.V75I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	75	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACCTTGCCTACGTACTGATAA	0.333										HNSCC(23;0.051)		
FST	10468	broad.mit.edu	37	5	52780919	52780919	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:52780919G>A	uc003jpd.2	+	5	841	c.814G>A	c.(814-816)GAG>AAG	p.E272K	FST_uc003jpc.2_Missense_Mutation_p.E272K	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	272	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CCTCTGTGATGAGCTGTGCCC	0.517												
CD180	4064	broad.mit.edu	37	5	66478868	66478868	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:66478868G>A	uc003juy.2	-	3	1951	c.1803C>T	c.(1801-1803)GGC>GGT	p.G601G		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	601	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TCTCCTCCGAGCCTTCAAGTT	0.448												
RASGRF2	5924	broad.mit.edu	37	5	80369248	80369248	+	Silent	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:80369248C>T	uc003kha.1	+	5	864	c.864C>T	c.(862-864)GAC>GAT	p.D288D	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.D116D	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	288	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCCACGACGACGTCAGCAGTA	0.448												
MEF2C	4208	broad.mit.edu	37	5	88018547	88018547	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:88018547G>A	uc003kjj.2	-	11	1969	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D	MEF2C_uc003kji.2_Silent_p.D424D|MEF2C_uc003kjk.2_Silent_p.D432D|MEF2C_uc003kjm.2_Silent_p.D422D|MEF2C_uc003kjl.2_Silent_p.D442D	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	432		Cleavage (Probable).		D->A: Abolishes cleavage by caspase 7.	apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GGTCGCTCCCGTCGTACGAAC	0.597										HNSCC(66;0.2)		
NR2F1	7025	broad.mit.edu	37	5	92923850	92923850	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:92923850G>A	uc003kkj.2	+	2	2378	c.691G>A	c.(691-693)GTC>ATC	p.V231I		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	231					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTTCAGCGCCGTCGAGTGGGC	0.637												
PSD2	84249	broad.mit.edu	37	5	139189211	139189211	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:139189211G>T	uc003leu.1	+	2	391	c.186G>T	c.(184-186)AAG>AAT	p.K62N		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	62					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCACGAAGGACCCAGATG	0.627												
PCDHGA5	56110	broad.mit.edu	37	5	140745174	140745174	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:140745174A>G	uc003lju.1	+	1	1277	c.1277A>G	c.(1276-1278)GAC>GGC	p.D426G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D426G	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	426	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGTCATGGACCATGGAACC	0.448												
PCDHGC4	56098	broad.mit.edu	37	5	140864960	140864960	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:140864960C>T	uc003lky.1	+	1	220	c.220C>T	c.(220-222)CAC>TAC	p.H74Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.H74Y	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	74	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCAAAGACACTTCCGTGT	0.572												
POU4F3	5459	broad.mit.edu	37	5	145719209	145719209	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:145719209G>A	uc003loa.2	+	2	308	c.219G>A	c.(217-219)CCG>CCA	p.P73P		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	73					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCATCCGTTCAAGCCCG	0.607												
POU4F3	5459	broad.mit.edu	37	5	145719700	145719700	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:145719700C>T	uc003loa.2	+	2	799	c.710C>T	c.(709-711)TCG>TTG	p.S237L		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	237	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACTCTCTCGCACAACAAC	0.617												
JAKMIP2	9832	broad.mit.edu	37	5	147012306	147012306	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:147012306T>A	uc003loq.1	-	13	2095	c.1713A>T	c.(1711-1713)CAA>CAT	p.Q571H	JAKMIP2_uc011dbx.1_Missense_Mutation_p.Q529H|JAKMIP2_uc003lor.1_Missense_Mutation_p.Q550H|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Q571H	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	571	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGTTCTTGTTGTAACCGGT	0.378												
SOX30	11063	broad.mit.edu	37	5	157073704	157073704	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:157073704C>T	uc003lxb.1	-	3	1670	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H	SOX30_uc003lxc.1_Missense_Mutation_p.R443H|SOX30_uc011dds.1_Missense_Mutation_p.R138H	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	443					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTAGGTGAGCGGTAAGGATA	0.393												
SOX30	11063	broad.mit.edu	37	5	157078519	157078519	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:157078519C>T	uc003lxb.1	-	1	910	c.568G>A	c.(568-570)GAG>AAG	p.E190K	SOX30_uc003lxc.1_Missense_Mutation_p.E190K|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	190					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCATGACCTCCTCCGCCTCC	0.637												
GABRG2	2566	broad.mit.edu	37	5	161569188	161569188	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:161569188C>T	uc003lyz.3	+	7	1146	c.788C>T	c.(787-789)TCT>TTT	p.S263F	GABRG2_uc010jjc.2_Missense_Mutation_p.S303F|GABRG2_uc003lyy.3_Missense_Mutation_p.S263F|GABRG2_uc011dej.1_Missense_Mutation_p.S168F	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	263	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTGGTCATGTCTGTCTACTTT	0.403												
VARS2	57176	broad.mit.edu	37	6	30882769	30882769	+	Silent	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:30882769A>G	uc003nsc.1	+	1	788	c.156A>G	c.(154-156)CGA>CGG	p.R52R	GTF2H4_uc003nsb.1_3'UTR|VARS2_uc003nsd.2_Silent_p.R52R|VARS2_uc011dmx.1_Silent_p.R52R|VARS2_uc011dmy.1_Intron|VARS2_uc011dmz.1_Silent_p.R82R|VARS2_uc011dna.1_Silent_p.R52R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	52					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						AGCGCCTGCGAGAGAAGCAGG	0.597												
LTA	4049	broad.mit.edu	37	6	31541465	31541465	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:31541465C>A	uc011dnu.1	+	4	826	c.613C>A	c.(613-615)CTG>ATG	p.L205M	LTA_uc003nue.1_Missense_Mutation_p.L205M|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_3'UTR|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank|TNF_uc003nuj.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	205					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	AGCCTTCGCTCTGTAGAACTT	0.502												
CLIC5	53405	broad.mit.edu	37	6	45917087	45917087	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:45917087C>T	uc003oxv.3	-	3	788	c.682G>A	c.(682-684)GGC>AGC	p.G228S	CLIC5_uc003oxu.3_Missense_Mutation_p.G69S|CLIC5_uc003oxx.2_Missense_Mutation_p.G69S	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	228					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						GGGTGCGTGCCGGGGGCTAGG	0.542												
KLHL31	401265	broad.mit.edu	37	6	53516915	53516915	+	Silent	SNP	C	C	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:53516915C>G	uc003pcb.3	-	3	1527	c.1386G>C	c.(1384-1386)GCG>GCC	p.A462A	uc003pcc.1_Missense_Mutation_p.R103G	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	462	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					CGTCGGCGACCGCGCTAGCGT	0.692												
BAI3	577	broad.mit.edu	37	6	70037747	70037747	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:70037747T>G	uc003pev.3	+	22	3449	c.3001T>G	c.(3001-3003)TTC>GTC	p.F1001V	BAI3_uc010kak.2_Missense_Mutation_p.F1001V|BAI3_uc011dxx.1_Missense_Mutation_p.F207V|BAI3_uc003pex.1_Missense_Mutation_p.F131V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1001	Helical; Name=4; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATCAGTAGGCTTCACCAGAAC	0.383												
C6orf221	154288	broad.mit.edu	37	6	74073551	74073551	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:74073551G>A	uc003pgt.3	+	3	675	c.622G>A	c.(622-624)GAG>AAG	p.E208K		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	208										skin(2)	2						GCGGTTTCGCGAGGATGCCCG	0.617												
SNAP91	9892	broad.mit.edu	37	6	84269910	84269910	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:84269910G>A	uc011dze.1	-	27	2861	c.2544C>T	c.(2542-2544)GGC>GGT	p.G848G	SNAP91_uc011dzd.1_Silent_p.G346G|SNAP91_uc003pkb.2_Silent_p.G757G|SNAP91_uc003pkc.2_Silent_p.G818G|SNAP91_uc003pkd.2_Silent_p.G541G|SNAP91_uc003pka.2_Silent_p.G846G	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	848	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCATGGGCATGCCTGTCCCAG	0.542												
TBX18	9096	broad.mit.edu	37	6	85472321	85472321	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:85472321G>A	uc003pkl.1	-	2	438	c.438C>T	c.(436-438)GCC>GCT	p.A146A	TBX18_uc010kbq.1_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	146	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCCAGAGCTCGGCTCCCTGCA	0.697												
POU3F2	5454	broad.mit.edu	37	6	99283682	99283682	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:99283682T>A	uc003ppe.2	+	1	1103	c.933T>A	c.(931-933)TTT>TTA	p.F311L		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	311	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TCTGCAGGTTTGAGGCCCTGC	0.592												
REV3L	5980	broad.mit.edu	37	6	111701366	111701366	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:111701366C>T	uc003puy.3	-	11	1596	c.1273G>A	c.(1273-1275)GGA>AGA	p.G425R	REV3L_uc003pux.3_Missense_Mutation_p.G347R|REV3L_uc003puz.3_Missense_Mutation_p.G347R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	425					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCCCGATATCCATCACTTTCC	0.368								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
HEBP2	23593	broad.mit.edu	37	6	138734166	138734166	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:138734166A>G	uc003qhw.1	+	4	866	c.569A>G	c.(568-570)AAT>AGT	p.N190S		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	190						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AATAGAAATAATGAAGTGTGG	0.353												
MLLT4	4301	broad.mit.edu	37	6	168265408	168265408	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:168265408G>C	uc003qwd.2	+	2	425	c.283G>C	c.(283-285)GAA>CAA	p.E95Q	MLLT4_uc003qwb.1_Missense_Mutation_p.E95Q|MLLT4_uc003qwc.1_Missense_Mutation_p.E95Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	95	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTCACTCTATGAAGTGCATGT	0.493			T	MLL	AL							
HDAC9	9734	broad.mit.edu	37	7	18625092	18625092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:18625092C>T	uc003suh.2	+	2	252	c.211C>T	c.(211-213)CAG>TAG	p.Q71*	HDAC9_uc003sue.2_Nonsense_Mutation_p.Q71*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003sui.2_Nonsense_Mutation_p.Q71*|HDAC9_uc003suj.2_Nonsense_Mutation_p.Q71*|HDAC9_uc011jya.1_Nonsense_Mutation_p.Q112*|HDAC9_uc003sua.1_Nonsense_Mutation_p.Q90*|HDAC9_uc011jyb.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003sud.1_Nonsense_Mutation_p.Q71*|HDAC9_uc011jyc.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003suf.1_Nonsense_Mutation_p.Q99*|HDAC9_uc010kud.1_Nonsense_Mutation_p.Q71*|HDAC9_uc011jye.1_Nonsense_Mutation_p.Q40*|HDAC9_uc011jyf.1_Nonsense_Mutation_p.Q40*	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	71					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GTTTCAGAAACAGCATGAGAA	0.488												
PKD1L1	168507	broad.mit.edu	37	7	47947797	47947797	+	Missense_Mutation	SNP	C	C	T	rs141974473		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:47947797C>T	uc003tny.1	-	9	1279	c.1279G>A	c.(1279-1281)GAA>AAA	p.E427K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	427	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGCTCCACTTCGGTTCCATGA	0.423												
CLDN12	9069	broad.mit.edu	37	7	90042693	90042693	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:90042693A>G	uc003ukp.2	+	5	1339	c.703A>G	c.(703-705)ATT>GTT	p.I235V	CLDN12_uc003ukq.2_Missense_Mutation_p.I235V|CLDN12_uc010leq.2_Missense_Mutation_p.I235V|CLDN12_uc003ukr.2_Missense_Mutation_p.I235V|CLDN12_uc003uks.2_Missense_Mutation_p.I235V	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	235	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TGCCATTGAAATTGACATTCC	0.438												
SLC25A13	10165	broad.mit.edu	37	7	95822490	95822490	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:95822490T>C	uc003uof.3	-	6	665	c.474A>G	c.(472-474)ATA>ATG	p.I158M	SLC25A13_uc003uog.3_Missense_Mutation_p.I158M|SLC25A13_uc011kik.1_Missense_Mutation_p.I50M	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	158	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCTCCAGTTGTATTTCCTACA	0.393												
SSPO	23145	broad.mit.edu	37	7	149493689	149493689	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:149493689C>T	uc010lpk.2	+	46	6685	c.6685C>T	c.(6685-6687)CCA>TCA	p.P2229S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2229					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACAGGGTCCCCACCGGCACC	0.667												
VPS37A	137492	broad.mit.edu	37	8	17137897	17137897	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:17137897C>A	uc003wxj.2	+	9	1267	c.914C>A	c.(913-915)ACA>AAA	p.T305K	VPS37A_uc003wxk.2_Missense_Mutation_p.T280K|VPS37A_uc003wxl.2_Intron	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	305					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GAATTACTTACACAGATGAAG	0.274												
FGF17	8822	broad.mit.edu	37	8	21903764	21903764	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:21903764G>A	uc003xag.2	+	3	224	c.212G>A	c.(211-213)CGT>CAT	p.R71H	FGF17_uc003xah.2_Missense_Mutation_p.R60H|FGF17_uc003xai.2_Missense_Mutation_p.R94H	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	71					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GTCACCGGGCGTCGCATCTCC	0.662												
MYST3	7994	broad.mit.edu	37	8	41790128	41790128	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:41790128G>C	uc010lxb.2	-	18	6154	c.5610C>G	c.(5608-5610)CAC>CAG	p.H1870Q	MYST3_uc010lxc.2_Missense_Mutation_p.H1870Q|MYST3_uc003xon.3_Missense_Mutation_p.H1870Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1870					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GCTGCTGCTGGTGAGCAGCCG	0.597												
LYN	4067	broad.mit.edu	37	8	56866415	56866415	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:56866415G>A	uc003xsk.3	+	8	944	c.662G>A	c.(661-663)AGA>AAA	p.R221K	LYN_uc003xsl.3_Missense_Mutation_p.R200K	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	221	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTGTGCAGAAGATTGGAGAAG	0.438												
CNGB3	54714	broad.mit.edu	37	8	87680379	87680379	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:87680379G>C	uc003ydx.2	-	5	557	c.511C>G	c.(511-513)CCA>GCA	p.P171A	CNGB3_uc010maj.2_Missense_Mutation_p.P33A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	171	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TTTACTGGTGGTACAGCCGTG	0.333												
VPS13B	157680	broad.mit.edu	37	8	100790949	100790949	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:100790949A>G	uc003yiv.2	+	42	7655	c.7544A>G	c.(7543-7545)AAT>AGT	p.N2515S	VPS13B_uc003yiw.2_Missense_Mutation_p.N2490S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2515					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCGACAGAAATATGCCATCT	0.388												
PKHD1L1	93035	broad.mit.edu	37	8	110464495	110464495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:110464495G>A	uc003yne.2	+	42	6597	c.6493G>A	c.(6493-6495)GGC>AGC	p.G2165S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2165	IPT/TIG 14.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGGTGTCGGCATGGCCAA	0.438										HNSCC(38;0.096)		
OR13C8	138802	broad.mit.edu	37	9	107331805	107331805	+	Silent	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr9:107331805A>G	uc011lvo.1	+	1	357	c.357A>G	c.(355-357)GCA>GCG	p.A119A		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCACGATGGCACTGGACCGCT	0.532												
DMD	1756	broad.mit.edu	37	X	32398721	32398721	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:32398721G>T	uc004dda.1	-	34	4995	c.4751C>A	c.(4750-4752)ACA>AAA	p.T1584K	DMD_uc004dcw.2_Missense_Mutation_p.T240K|DMD_uc004dcx.2_Missense_Mutation_p.T243K|DMD_uc004dcz.2_Missense_Mutation_p.T1461K|DMD_uc004dcy.1_Missense_Mutation_p.T1580K|DMD_uc004ddb.1_Missense_Mutation_p.T1576K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1584	Spectrin 11.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCCATTCTGTCAAGACATT	0.383												
IRS4	8471	broad.mit.edu	37	X	107977572	107977572	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:107977572T>G	uc004eoc.2	-	1	2036	c.2003A>C	c.(2002-2004)AAA>ACA	p.K668T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	668						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TTTGGCTTCTTTGCATTCTTT	0.507												
MCF2	4168	broad.mit.edu	37	X	138708381	138708381	+	Silent	SNP	G	G	A			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:138708381G>A	uc004fau.2	-	6	952	c.658C>T	c.(658-660)CTA>TTA	p.L220L	MCF2_uc004fav.2_Silent_p.L220L|MCF2_uc011mwl.1_Silent_p.L181L|MCF2_uc010nsh.1_Silent_p.L220L|MCF2_uc011mwm.1_Silent_p.L181L|MCF2_uc011mwn.1_Silent_p.L365L|MCF2_uc004faw.2_Silent_p.L280L|MCF2_uc011mwo.1_Silent_p.L280L	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	220					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AACTTCCATAGTTGCAGATAC	0.333												
SLITRK2	84631	broad.mit.edu	37	X	144905049	144905049	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:144905049A>T	uc004fcd.2	+	5	2096	c.1106A>T	c.(1105-1107)GAC>GTC	p.D369V	SLITRK2_uc010nsp.2_Missense_Mutation_p.D369V|SLITRK2_uc010nso.2_Missense_Mutation_p.D369V|SLITRK2_uc011mwq.1_Missense_Mutation_p.D369V|SLITRK2_uc011mwr.1_Missense_Mutation_p.D369V|SLITRK2_uc011mws.1_Missense_Mutation_p.D369V|SLITRK2_uc004fcg.2_Missense_Mutation_p.D369V|SLITRK2_uc011mwt.1_Missense_Mutation_p.D369V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	369	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AATATCTCTGACCTGCAGCCC	0.458												
AFF2	2334	broad.mit.edu	37	X	148055009	148055009	+	Silent	SNP	A	A	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:148055009A>G	uc004fcp.2	+	16	3755	c.3276A>G	c.(3274-3276)AAA>AAG	p.K1092K	AFF2_uc004fcq.2_Silent_p.K1082K|AFF2_uc004fcr.2_Silent_p.K1053K|AFF2_uc011mxb.1_Silent_p.K1057K|AFF2_uc004fcs.2_Silent_p.K1057K|AFF2_uc011mxc.1_Silent_p.K733K	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1092					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCGAGAAATTTGGCAAAG	0.378												
SGIP1	84251	broad.mit.edu	37	1	67098778	67098781	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:67098777_67098780TGTAA>T	uc001dcr.3	+	3	316	c.99_splice	c.e3+1	p.I33_splice		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	33					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAGATGGAATTGTAAGTATTTAAA	0.299												
GJA8	2703	broad.mit.edu	37	1	147381125	147381127	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:147381125_147381127delAGA	uc001epu.1	+	2	1106_1108	c.1043_1045delAGA	c.(1042-1047)GAGAAG>GAG	p.K350del		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	350	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GAGGTGGGAGAGAAGAAGGAGGA	0.635												
TRPC6	7225	broad.mit.edu	37	11	101454132	101454132	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:101454132delC	uc001pgk.3	-	1	528	c.103delG	c.(103-105)GACfs	p.D35fs	TRPC6_uc009ywy.2_Frame_Shift_Del_p.D35fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.D35fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	35	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGCTCCGAGTCCATGAGCAGA	0.726												
DSG2	1829	broad.mit.edu	37	18	29100918	29100919	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:29100918_29100919insT	uc002kwu.3	+	4	557_558	c.369_370insT	c.(367-372)CCATTTfs	p.P123fs		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	123_124	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AAGAAACACCATTTTTTCTGGT	0.297												
SGIP1	84251	broad.mit.edu	37	1	67098778	67098781	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:67098777_67098780TGTAA>T	uc001dcr.3	+	3	316	c.99_splice	c.e3+1	p.I33_splice		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	33					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAGATGGAATTGTAAGTATTTAAA	0.299												
PCDH9	5101	broad.mit.edu	37	13	67799994	67799994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:67799993_67799993GT>G	uc001vik.3	-	1	3272	c.2580_2580AC>C	c.(2578-2580)aacfs	p.N860fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.N860fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.N860fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.N860fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	860					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTTCTCCTGGTTTGGGGACA	0.458												
RSPRY1	89970	broad.mit.edu	37	16	57243062	57243063	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:57243061_57243062A>AT	uc002elb.3	+	3	756_757	c.478_479A>AT	c.(478-480)atafs	p.I160fs	RSPRY1_uc002elc.3_Frame_Shift_Ins_p.I160fs|RSPRY1_uc002eld.3_Frame_Shift_Ins_p.I160fs	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	160						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						ACCAGCTGTTATAACATTGTTA	0.347												
CCDC9	26093	broad.mit.edu	37	19	47774761	47774762	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:47774760_47774761A>AG	uc010xym.2	+	11	1628_1629	c.1421_1422A>AG	c.(1420-1422)gagfs	p.E474fs	PRR24_uc021uwm.1_5'Flank	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	474										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		TTCAGTCCGGAGGAGCCCCTGC	0.683												
